Medicine › Surgery

Congenital Anomalies and Fetal Surgery

Works Count: 37583

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Description

This cluster of papers focuses on the etiology, prenatal diagnosis, surgical management, and outcomes of abdominal wall defects such as gastroschisis and omphalocele. It explores maternal risk factors, epidemiological trends, fetal and neonatal outcomes, and advancements in surgical techniques for the treatment of these congenital anomalies.

Keywords

Gastroschisis; Omphalocele; Abdominal Wall Defects; Prenatal Diagnosis; Surgical Management; Epidemiology; Fetal Outcome; Maternal Risk Factors; Congenital Anomalies; Neonatal Surgery

Muscle development in large and small pig fetuses.

1983-09-01

Peter Wigmore , N. C. Stickland

The largest and smallest littermates were chosen by weight from litters of 38 days' gestation to 1 day post partum. Complete frozen sections of the semitendinosus muscle were used to … The largest and smallest littermates were chosen by weight from litters of 38 days' gestation to 1 day post partum. Complete frozen sections of the semitendinosus muscle were used to provide a qualitative and quantitative account of the development of the primary and secondary generations of muscle fibres. The results showed that the time of formation of primary and secondary fibres, and the numbers of primary fibres formed, were the same in both large and small littermates. The number of secondary fibres formed, however, was lower in the smaller fetuses and resulted in there being a 17% difference in total fibre number at birth. Primary fibres in small fetuses were smaller, due to the smaller central myofibril-free region. This small size may have restricted the available surface area for secondary fibre formation. Fibre hyperplasia was found to cease between 85 and 95 days' gestation, and so the fibre number difference is likely to be permanent.

Human Malformations and Related Anomalies

2015-10-01

Roger E. Stevenson , Judith G. Hall

Abstract Malformations are found in 2%-3% of all infants born in the United States. An additional equal number of infants are later found to have malformations that were not obvious … Abstract Malformations are found in 2%-3% of all infants born in the United States. An additional equal number of infants are later found to have malformations that were not obvious at birth. The third edition of Human Malformations and Related Anomalies is a comprehensive compilation of significant human malformations authored by 40 authorities in the field of genetics and dysmorphology. It introduces a new format that allows easy access to essential information on each major human malformation. The abbreviated text on clinical presentation, associated anomalies, treatment, and prognosis is combined with the liberal use of line drawings, photographs, radiographs, and other images to give a succinct composite view of each malformation. The anatomical and molecular embryology is set out in a consistent manner in the introduction to each organ system. An appendix provides a synopsis of the 500 syndromes that are most commonly associated with structural birth defects. The volume utilizes a blend of time-tested terminology and the nomenclature recommended by an international group of clinical geneticists and dysmorphologists. Where available, advances in the understanding of the causes of malformations acquired through the new and emerging genetic and genomic technologies are recognized.

Thomson's special veterinary pathology

2016-02-15

edited by William W. Carlton , Μ. D. McGavin

Thomson's special veterinary pathology , Thomson's special veterinary pathology , مرکز فناوری اطلاعات و اطلاع رسانی کشاورزی Thomson's special veterinary pathology , Thomson's special veterinary pathology , مرکز فناوری اطلاعات و اطلاع رسانی کشاورزی

In utero surgery rescues neurological function at birth in sheep with spina bifida

1995-04-01

Martin Meuli , Claudia Meuli‐Simmen , Grover M. Hutchins +4 more

Birth Defects: Original Article Series, 8

1973-12-01

Anne H. Child

minor points.Dr Davison's section is concluded by properly concentrated on the genetics of immunity.The three appendices, containing invaluable records of all book begins with a gentle introduction in the form … minor points.Dr Davison's section is concluded by properly concentrated on the genetics of immunity.The three appendices, containing invaluable records of all book begins with a gentle introduction in the form of a case summaries and histories in the first two, with some wide ranging essay.Chapter 2 deals with immuno- of the pedigrees in the third.globulin structure and evolution and provides an ade- The second part (21 pages) of the monograph is an quate background for a remarkably comprehensible aetiological investigation by Drs Swift, Benson, and discussion of the genetics of immunoglobulin molecules Studdy of those patients hospitalized in Leybourne covered in Chapter 3 and of antibody variability covered Grange Hospital who have an IQ of 50 or less, and at in Chapter 4. In Chapter 5 the genetics of histo- least one sib with an IQ of 60 or less.They found 66 compatibility, a brief review of T and B cells and their such patients from 30 families and divided them into interaction, antigen receptors on lymphoid cells, immune diagnostic groups of known aetiology, those with similar deficiency states in man and animals, autoimmunity and physical, but no biochemical, abnormalities among the lymphoid neoplasias, and finally the genetic control of affected sibs, those with no physical or biochemical specific immune response are reviewed in only 27 pages.abnormalities and a group of four families, in each of In Chapter 6 the authors consider human blood groups which a new biochemical error had been found (both the and to some extent depart from the narrower definition affected sibs in these four families were excreting exces-of immunogenetics by including systems which, al- sive amounts of tyrosin, beta-alanin, l-methylhistidin, though they may have been detected by immunological and hydroxylysin, respectively).Column chromato-(usually serological) techniques, presumably have, with

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Pathology of the Fetus and the Infant

1976-10-01

J. L. Emery

reviews blood group serology, and clinical chemistry are covered in 276 further pages indicates the brevity with which each subject is dealt.Nevertheless the concise presentation of such a large amount … reviews blood group serology, and clinical chemistry are covered in 276 further pages indicates the brevity with which each subject is dealt.Nevertheless the concise presentation of such a large amount of generally accurate information in one book must make it a very attractive volume to those working for the Ordinary National Certificate in medical laboratory sciences.The book is beautifully produced with excellent line drawings and clear photographs of apparatus.

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Isolation and directed differentiation of neural crest stem cells derived from human embryonic stem cells

2007-11-25

Gabsang Lee , Hyesoo Kim , Yechiel Elkabetz +5 more

AUTOTRANSPLANT OF OMENTUM TO A LARGE SCALP DEFECT, WITH MICROSURGICAL REVASCULARIZATION

1972-03-01

Donald H. McLean , Harry J. Buncke

From the Surgery Service and the Clinical Investigation Center of the Naval Hospital, Oakland, Calif. From the Surgery Service and the Clinical Investigation Center of the Naval Hospital, Oakland, Calif.

Severe limb abnormalities after chorion villus sampling at 56-66 days' gestation

1991-03-01

Helen V. Firth , Patricia A. Boyd , R H Lindenbaum +3 more

PATHOLOGY OF THE FETUS AND INFANT

1962-07-01

J. L. Emery

This textbook is designed to meet the need of the under- graduate student for 'a comprehensive outline of patho- logy expounded from its general principles, and without that artificial and … This textbook is designed to meet the need of the under- graduate student for 'a comprehensive outline of patho- logy expounded from its general principles, and without that artificial and repetitive subdivision of the subject into 'general' and 'special' parts which is still customary'.The arrangement is therefore in terms of causation of disease, rather than body tissues and organs.The new edition differs from the first mainly in that the accounts of micro- organisms and the diseases they produce have been con-

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Prenatal Diagnosis of Congenital Anomalies

1989-12-01

Ants Toi

Rare diseases bullet 8: Organising pneumonia

2000-04-01

J.F. Cordier

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Birth Defects Encyclopedia

1991-08-01

Susan Holder

Any textbook which sets out to comprehensively cover the subject of birth defects is likely to be substantial, and this book is huge!The encyclopaedia is produced by the Centre for … Any textbook which sets out to comprehensively cover the subject of birth defects is likely to be substantial, and this book is huge!The encyclopaedia is produced by the Centre for Birth Defects Information Inc, an independent non-profit making organisation, based in America.The resulting collaboration between international experts is presented in the form of succinct articles, arranged in alphabetical order, on over 2000 birth defects and syndromes.Do not be put off by the size of this bookif you can pick it up, you will find it hard to put down.It has the same sort of appeal as

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The amniotic band disruption complex: Timing of amniotic rupture and variable spectra of consequent defects

1979-10-01

Marilyn C. Higginbottom , Kenneth Lyons Jones , Bryan D. Hall +1 more

Infectious Diseases of the Fetus and Newborn Infant

2001-12-01

Jayant P. Shenai

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Subclavian artery supply disruption sequence: Hypothesis of a vascular etiology for Poland, Klippel‐Feil, and Möbius anomalies

1986-04-01

Jan Nico Bouwes Bavinck , David D. Weaver , John M. Opitz +1 more

A hypothesis is presented to explain the pathogenesis of the Poland, Klippel-Feil, and Möbius anomalies, isolated absence of the pectoralis major with breast hypoplasia, isolated terminal transverse limb defects, and … A hypothesis is presented to explain the pathogenesis of the Poland, Klippel-Feil, and Möbius anomalies, isolated absence of the pectoralis major with breast hypoplasia, isolated terminal transverse limb defects, and the Sprengel anomaly. We propose that these conditions are the result of an interruption of the early embryonic blood supply in the subclavian arteries, the vertebral arteries and/or their branches, and hypothesize that the occlusions occur at specific locations in these vessels during or around the sixth week of embryologic development and produce predictable patterns of defects. The term subclavian artery supply disruption sequence (SASDS) is suggested for the group of birth defects represented by the above conditions. Possible causes for interruption of embryonic blood supply are discussed.

Maternal Overweight and Obesity and the Risk of Congenital Anomalies

2009-02-10

K J Stothard , P. W. G. Tennant , Ruth Bell +1 more

Evidence suggests an association between maternal obesity and some congenital anomalies.To assess current evidence of the association between maternal overweight, maternal obesity, and congenital anomaly.MEDLINE, EMBASE, CINAHL, and Scopus (January … Evidence suggests an association between maternal obesity and some congenital anomalies.To assess current evidence of the association between maternal overweight, maternal obesity, and congenital anomaly.MEDLINE, EMBASE, CINAHL, and Scopus (January 1966 through May 2008) were searched for English-language studies using a list of keywords. Reference lists from relevant review articles were also searched.Observational studies with an estimate of prepregnancy or early pregnancy weight or body mass index (BMI) and data on congenital anomalies were considered. Of 1944 potential articles, 39 were included in the systematic review and 18 in the meta-analysis. Data Extraction and Synthesis Information was extracted on study design, quality, participants, congenital anomaly groups and subtypes, and risk estimates. Pooled odds ratios (ORs) comparing risk among overweight, obese, and recommended-weight mothers (defined by BMI) were determined for congenital anomaly groups and subtypes for which at least 150 cases had been reported in the literature.Pooled ORs for overweight and obesity were calculated for 16 and 15 anomaly groups or subtypes, respectively. Compared with mothers of recommended BMI, obese mothers were at increased odds of pregnancies affected by neural tube defects (OR, 1.87; 95% confidence interval [CI], 1.62-2.15), spina bifida (OR, 2.24; 95% CI, 1.86-2.69), cardiovascular anomalies (OR, 1.30; 95% CI, 1.12-1.51), septal anomalies (OR, 1.20; 95% CI, 1.09-1.31), cleft palate (OR, 1.23; 95% CI, 1.03-1.47), cleft lip and palate (OR, 1.20; 95% CI, 1.03-1.40), anorectal atresia (OR, 1.48; 95% CI, 1.12-1.97), hydrocephaly (OR, 1.68; 95% CI, 1.19-2.36), and limb reduction anomalies (OR, 1.34; 95% CI, 1.03-1.73). The risk of gastroschisis among obese mothers was significantly reduced (OR, 0.17; 95% CI, 0.10-0.30).Maternal obesity is associated with an increased risk of a range of structural anomalies, although the absolute increase is likely to be small. Further studies are needed to confirm whether maternal overweight is also implicated.

The surgery of infancy and childhood

1953-10-01

Willis J. Potts

The Continuing Challenge of Understanding, Preventing, and Treating Neural Tube Defects

2013-02-28

John B. Wallingford , Lee Niswander , Gary M. Shaw +1 more

Human birth defects are a major public health burden: The Center for Disease Control estimates that 1 of every 33 United States newborns presents with a birth defect, and worldwide … Human birth defects are a major public health burden: The Center for Disease Control estimates that 1 of every 33 United States newborns presents with a birth defect, and worldwide the estimate approaches 6% of all births. Among the most common and debilitating of human birth defects are those affecting the formation of the neural tube, the precursor to the central nervous system. Neural tube defects (NTDs) arise from a complex combination of genetic and environmental interactions. Although substantial advances have been made in the prevention and treatment of these malformations, NTDs remain a substantial public health problem, and we are only now beginning to understand their etiology. Here, we review the process of neural tube development and how defects in this process lead to NTDs, both in humans and in the animal models that serve to inform our understanding of these processes. The insights we are gaining will help generate new intervention strategies to tackle the clinical challenges and to alleviate the personal and societal burdens that accompany these defects.

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A reevaluation of early amniote phylogeny

1995-02-01

Michel Laurin , Robert R. Reisz

Journal Article A reevaluation of early amniote phylogeny Get access MICHEL LAURIN, MICHEL LAURIN 1Department of Zoology, Erindale Campus, University of Toronto, Mississauga, Ontario, Canada L5L 1C6 Search for other … Journal Article A reevaluation of early amniote phylogeny Get access MICHEL LAURIN, MICHEL LAURIN 1Department of Zoology, Erindale Campus, University of Toronto, Mississauga, Ontario, Canada L5L 1C6 Search for other works by this author on: Oxford Academic Google Scholar ROBERT R. REISZ ROBERT R. REISZ 1Department of Zoology, Erindale Campus, University of Toronto, Mississauga, Ontario, Canada L5L 1C6 Search for other works by this author on: Oxford Academic Google Scholar Zoological Journal of the Linnean Society, Volume 113, Issue 2, February 1995, Pages 165–223, https://doi.org/10.1111/j.1096-3642.1995.tb00932.x Published: 28 June 2008 Article history Received: 01 February 1994 Accepted: 01 July 1994 Published: 28 June 2008

Developmental Anatomy: A Textbook and Laboratory Manual of Embryology

1946-11-01

Leslie B. Arey

Journal Article Developmental Anatomy: A Textbook and Laboratory Manual of Embryology Get access Developmental Anatomy: A Textbook and Laboratory Manual of Embryology. By Leslie Brainerd Arey, Ph.D., Sc.D., LL.D., Robert … Journal Article Developmental Anatomy: A Textbook and Laboratory Manual of Embryology Get access Developmental Anatomy: A Textbook and Laboratory Manual of Embryology. By Leslie Brainerd Arey, Ph.D., Sc.D., LL.D., Robert Laughlin Rea Professor of Anatomy, Northwestern University. Fifth Edition. Cloth. Price, $7. Pp. 616, with 590 illustrations, many in color. Philadelphia: W. B. Saunders Company, 1946. Physical Therapy, Volume 26, Issue 6, November 1946, Page 342, https://doi.org/10.1093/ptj/26.6.342b Published: 01 November 1946

BIRTH AFTER THE REIMPLANTATION OF A HUMAN EMBRYO

1978-08-01

P. C. Steptoe , Robert Edwards

Homocysteine induces congenital defects of the heart and neural tube: Effect of folic acid

1996-12-24

Thomas H. Rosenquist , S. Anne Ratashak , Jacob Selhub

The biological basis or mechanism whereby folate supplementation protects against heart and neural tube defects is unknown. It has been hypothesized that the amino acid homocysteine may be the teratogenic … The biological basis or mechanism whereby folate supplementation protects against heart and neural tube defects is unknown. It has been hypothesized that the amino acid homocysteine may be the teratogenic agent, since serum homocysteine increases in folate depletion; however, this hypothesis has not been tested. In this study, avian embryos were treated directly with d , l -homocysteine or with l -homocysteine thiolactone, and a dose response was established. Of embryos treated with 50 μl of the teratogenic dose (200 mM d , l -homocysteine or 100 mM l -homocysteine thiolactone) on incubation days 0, 1, and 2 and harvested at 53 h (stage 14), 27% showed neural tube defects. To determine the effect of the teratogenic dose on the process of heart septation, embryos were treated during incubation days 2, 3, and 4; then they were harvested at day 9 following the completion of septation. Of surviving embryos, 23% showed ventricular septal defects, and 11% showed neural tube defects. A high percentage of the day 9 embryos also showed a ventral closure defect. The teratogenic dose was shown to raise serum homocysteine to over 150 nmol/ml, compared with a normal level of about 10 nmol/ml. Folate supplementation kept the rise in serum homocysteine to ≈45 nmol/ml, and prevented the teratogenic effect. These results support the hypothesis that homocysteine per se causes dysmorphogenesis of the heart and neural tube, as well as of the ventral wall.

Recognizable Patterns of Human Malformation

1985-02-01

Jack C. Fisher

A nutritional disease of childhood associated with a maize diet

1933-12-01

Craig D. Williams

From the Children's From the Children's

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Ultrasound examination of the hydatic liver.

1981-05-01

H A Gharbi , W Hassine , M Bräuner +1 more

Hydatic cysts of the liver were detected by ultrasound in 121 cases; all cases were confirmed surgically. Scans were classified based on sonographic analysis of the morphology and structure of … Hydatic cysts of the liver were detected by ultrasound in 121 cases; all cases were confirmed surgically. Scans were classified based on sonographic analysis of the morphology and structure of the cyst. Five categories were found, which are thought to correspond to evolutionary stages of the hydatic cyst.

IMMUNOGENICITY OF HUMAN AMNIOTIC EPITHELIAL CELLS AFTER TRANSPLANTATION INTO VOLUNTEERS

1981-11-01

Charles Akle , Ken I. Welsh , Matteo Adinolfí +2 more

The spectrum of the DiGeorge syndrome

1979-06-01

Mary Ellen Conley , J. Bruce Beckwith , J.F.K. Mancer +1 more

20-year survival of children born with congenital anomalies: a population-based study

2010-01-20

P. W. G. Tennant , Mark S. Pearce , Mary Bythell +1 more

Maternal smoking in pregnancy and birth defects: a systematic review based on 173 687 malformed cases and 11.7 million controls

2011-07-11

Allan Hackshaw , Charles H. Rodeck , Sadie Boniface

BACKGROUNDThere is uncertainty over whether maternal smoking is associated with birth defects. We conducted the first ever comprehensive systematic review to establish which specific malformations are associated with smoking. BACKGROUNDThere is uncertainty over whether maternal smoking is associated with birth defects. We conducted the first ever comprehensive systematic review to establish which specific malformations are associated with smoking.

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Prepregnancy Obesity as a Risk Factor for Structural Birth Defects

2007-08-01

D. Kim Waller

Objective: To describe the relation between maternal obesity, overweight and underweight status, and 16 categories of structural birth defects.Design: An ongoing multisite, case-control study.Clinical geneticists reviewed all of the cases, … Objective: To describe the relation between maternal obesity, overweight and underweight status, and 16 categories of structural birth defects.Design: An ongoing multisite, case-control study.Clinical geneticists reviewed all of the cases, excluding those that had or were strongly suspected to have a single-gene disorder or chromosomal abnormality.Mothers with preexisting diabetes were also excluded.Body mass index was based on maternal report of height and weight prior to pregnancy.Setting: Eight participating states in the United States.

DISEASES OF THE NEWBORN

1961-03-01

Alexander J. Schaffer

Birth Defects Original Article Series

1970-05-01

Andrew G. Engel

The Surgery of Infancy and Childhood

1954-10-01

C M EDELEN

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National population‐based estimates for major birth defects, 2010–2014

2019-10-03

T. Cara , Jennifer Isenburg , Mark A. Canfield +7 more

Using the National Birth Defects Prevention Network (NBDPN) annual data report, U.S. national prevalence estimates for major birth defects are developed based on birth cohort 2010-2014.Data from 39 U.S. population-based … Using the National Birth Defects Prevention Network (NBDPN) annual data report, U.S. national prevalence estimates for major birth defects are developed based on birth cohort 2010-2014.Data from 39 U.S. population-based birth defects surveillance programs (16 active case-finding, 10 passive case-finding with case confirmation, and 13 passive without case confirmation) were used to calculate pooled prevalence estimates for major defects by case-finding approach. Fourteen active case-finding programs including at least live birth and stillbirth pregnancy outcomes monitoring approximately one million births annually were used to develop national prevalence estimates, adjusted for maternal race/ethnicity (for all conditions examined) and maternal age (trisomies and gastroschisis). These calculations used a similar methodology to the previous estimates to examine changes over time.The adjusted national birth prevalence estimates per 10,000 live births ranged from 0.62 for interrupted aortic arch to 16.87 for clubfoot, and 19.93 for the 12 critical congenital heart defects combined. While the birth prevalence of most birth defects studied remained relatively stable over 15 years, an increasing prevalence was observed for gastroschisis and Down syndrome. Additionally, the prevalence for atrioventricular septal defect, tetralogy of Fallot, omphalocele, and trisomy 18 increased in this period compared to the previous periods. Active case-finding programs generally had higher prevalence rates for most defects examined, most notably for anencephaly, anophthalmia/microphthalmia, trisomy 13, and trisomy 18.National estimates of birth defects prevalence provide data for monitoring trends and understanding the impact of these conditions. Increasing prevalence rates observed for selected conditions warrant further examination.

Environment and birth defects

1975-02-01

James Graves Wilson

The Prevalence of Congenital Anomalies in Europe

2010-01-01

Helen Dolk , Maria Loane , Ester Garne

Pathology Of Fetus And The Newborn

1953-03-01

This is the first adequate book on the subject in a field where there has long been a serious need. In no other single reference in the English literature can … This is the first adequate book on the subject in a field where there has long been a serious need. In no other single reference in the English literature can one find such a complete and concise presentation of the pathology, pathogenesis, pathophysiology, clinical relationships, and the public health aspects of mortality in the fetus and the newborn. Dr. Potter is Associate Professor of Pathology in the Department of Obstetrics and Gynecology of the University of Chicago; she is pathologist for the Lying-In Hospital and chief pathologist for the Chicago Department of Health.

Maternal-Fetal Medicine

2020-01-15

edited by Robert K. Creasy , Robert Resnik

Basic Genetics and Patterns of Inheritance. Prenatal Diagnosis of Genetic Disorders. Normal Development. Maternal-Fetal Interface- Immunologic Interactions. Gestational Changes of the Reproductive Tract and Breast. Physiology of the Myometrium. Puerperium. … Basic Genetics and Patterns of Inheritance. Prenatal Diagnosis of Genetic Disorders. Normal Development. Maternal-Fetal Interface- Immunologic Interactions. Gestational Changes of the Reproductive Tract and Breast. Physiology of the Myometrium. Puerperium. The Breast and Physiology of Lactation. Maternal Nutrition. Effects of Chemical and Environmental Agents. Social and Illicit Drug Use in Pregnancy. Woman Battering in Pregnancy. General Principles and Application of Ultrasound. The Prenatal Diagnosis of Structural Heart Disease. Doppler Ultrasound Assessment of Blood Flow. Fetal Breathing and Body Movements. Fetal Cardiovascular Physiology. Placental Respiratory Gas Exchange and Fetal Oxygenation. Fetal Heart Rate. Fetal Cardiac Arrhythmias: Diagnosis and Therapy. Fetal Biophysical Assessment By Ultrasound. Fetal Acid-Base Balance. Percutaneous Fetal Blood Sampling. Fetal Therapy: Medical and Surgical Approaches. The Endocrinology of Pregnancy. Significance of Amniotic Fluid Meconium. Fetal Lung Development, Tests for Maturation, Induction of Maturation, And Treatment. Recurrent Abortion. Cervical Incompetence. Immunologic Disorders. Characteristics of Parturition. Preterm Labor and Delivery. Post-Term Pregnancy. Normal and Abnormal Labor. Intrauterine Growth Restriction . Multiple Gestation: Incidence, Etiology and Inheritance. Multiple Gestation: Clinical Characteristics and Management. Placenta Previa and Abruptio Placentae. Amniotic Fluid Disorders. Premature Rupture of the Membranes. Maternal and Fetal Infections. Human Immunodeficiency Virus. Hemolytic Disease (Erythroblastosis Fetalis). Nonimmune Hydrops. Cardiovascular and Renal Adaptation to Pregnancy. Cardiac Diseases. Thromboembolic Disease. Pregnancy Related Hypertension. Renal Disorders. Intensive Care Monitoring of the Critically Ill Pregnant Patient. Pulmonary Disorders. Maternal Hematologic Disorders. Diabetes in Pregnancy. Thyroid Disease in Pregnancy. Other Endocrine Disorders of Pregnancy. Gastrointestinal Disease in Pregnancy. Diseases

Birth Defects: Original Article Series.

1971-01-01

N. Paul

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Pathology of the Fetus and the Newborn

1952-06-01

Edith L. Pøtter

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Pathology of the Fetus and the Infant

1962-06-01

Edith L. Pøtter

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Gas in the portal veins of the liver in infants; a roentgenographic demonstration with postmortem anatomical correlation.

1955-09-01

John N. Wolfe , William A. Evans

Ultrasound in the diagnosis of congenital anomalies

1979-06-01

John C. Hobbins , Peter Grannum , Richard L. Berkowitz +2 more

Birth Defects Compendium

1979-01-01

Daniel Bergsma

The Role of Ultrasound in Diagnosing Fetal Anterior Abdominal Wall Anomalies

2025-06-24

Nadia Marwen , Jawaheer Hammadi , Najla. Dhouibi +3 more | International Journal of Medical Science and Dental Health

Introduction: Anomalies of the fetal anterior abdominal wall result from defective embryonic development or failure of embryonic fusion, potentially leading to life-threatening conditions. The incidence is approximately 6.3 per 10,000 … Introduction: Anomalies of the fetal anterior abdominal wall result from defective embryonic development or failure of embryonic fusion, potentially leading to life-threatening conditions. The incidence is approximately 6.3 per 10,000 pregnancies [1]. Prenatal ultrasound serves as a key diagnostic tool for early detection and management planning [2]. Methods: This study is a retrospective case series conducted over three years (January 2021 to December 2023) at the Kairouan Maternity Hospital. We analyzed medical records of seven cases diagnosed with fetal anterior abdominal wall anomalies via prenatal ultrasound. Results: Among the seven cases, four were diagnosed with omphalocele, two with gastroschisis, and one with bladder exstrophy. Two cases were identified early (13 and 22 weeks of gestation), leading to medical termination of pregnancy. The remaining cases were followed to term, with postnatal surgical management. Conclusion: Fetal anterior abdominal wall anomalies, though rare, significantly impact fetal prognosis due to potential associated malformations and chromosomal abnormalities. Prenatal ultrasound remains an essential tool for early diagnosis, prognosis assessment, and guiding clinical management.

ECTOPIA CORDIS TRATAMENTO E DIAGNÓSTICOS

2025-06-23

Bianca Karoline da Silva Mendonça , Isabela Phillins Medeiros da Silva , Andressa Mussi Soares | Revista fisio&terapia.

Ectopia cordis (EC) é uma anomalia congênita rara associada ao posicionamento do coração fora da cavidade torácica, que pode ser parcial ou total. Isso ocorre porque a parede toráxica não … Ectopia cordis (EC) é uma anomalia congênita rara associada ao posicionamento do coração fora da cavidade torácica, que pode ser parcial ou total. Isso ocorre porque a parede toráxica não consegue se fundir como normalmente deveria durante o desenvolvimento no útero da mãe O objetivo deste trabalho foi discutir as formas de tratamento e diagnóstico na Ectopia Cordis. O diagnóstico é feito no pré-natal, feito por meio de ultrassom, que ajuda a visualizar e identificar o coração localizado fora da cavidade torácica. O tratamento para esta anomalia é cirúrgico, tratando-se de uma cirurgia de alto risco. A atuação da enfermagem no pré, trans e pós-operatório, assim como a comunicação entre as equipes de cada setor é essencial que as equipes sejam muito bem orientadas para prevenção de complicações, a fim de promover uma boa recuperação para a criança.

Patterns of Congenital Malformations in a Tertiary Newborn Care Unit in Central India: Implications for Prenatal Care

2025-06-22

Ravi Ambey , Kamal S Bhadauria | Cureus

Unresectable ectopic hepatocellular carcinoma in the left sub-diaphragmatic area and retroperitoneum treated with TACE: case report and literature review

2025-06-21

Chao-Bang Xie , Zijian Tang , Yang Wu +1 more | Cancer Biology & Therapy

Ectopic hepatocellular carcinoma (EHCC) demonstrates morphological and immunohistochemical features identical to conventional intrahepatic hepatocellular carcinoma (HCC), originating from ectopic liver tissue (EL), which is defined as a hepatic organ or … Ectopic hepatocellular carcinoma (EHCC) demonstrates morphological and immunohistochemical features identical to conventional intrahepatic hepatocellular carcinoma (HCC), originating from ectopic liver tissue (EL), which is defined as a hepatic organ or tissue not connected to the mother liver. EHCC is a rare disease and difficult to diagnose preoperatively. Therefore, its epidemiology, treatment, and prognosis are not fully elucidated. Herein, we present a case report of a 52-year-old male diagnosed with unresectable EHCC who underwent transarterial chemoembolization (TACE) and succumbed to the disease 13 months after treatment, accompanied by a literature review summarizing the epidemiology while analyzing therapeutic strategies and prognostic outcomes in EHCC through synthesis of published case evidence.

Letter to the Editor: A retrospective analysis of the accuracy of third‐trimester fetal ultrasound in singleton pregnancies for the prediction of small‐for‐gestational‐age babies in an unselected antenatal population

2025-06-20

Avir Sarkar , Amiya Das , Divesh Nitin Maniar +2 more | International Journal of Gynecology & Obstetrics

A Population‐Based Study of Limb Body Wall Complex With Proposed Features for Prenatal Diagnosis

2025-06-19

Mary Ann Thomas , Susan Crawford , Tanya Bedard | American Journal of Medical Genetics Part A

ABSTRACT Limb body wall complex (LBWC) is a lethal condition comprising major congenital anomalies. Although currently diagnosed in the early prenatal period, historical diagnostic criteria are based on detailed pathological … ABSTRACT Limb body wall complex (LBWC) is a lethal condition comprising major congenital anomalies. Although currently diagnosed in the early prenatal period, historical diagnostic criteria are based on detailed pathological assessments. Prenatal and postnatal findings of LBWC and their phenotypic overlap with body stalk anomaly (BSA) and recurrent constellations of embryonic malformations (RCEMs) will be described. Livebirths, stillbirths, and termination of pregnancies for fetal anomalies delivered between January 1, 1997, and December 31, 2019, with LBWC and BSA were abstracted from the Alberta Congenital Anomalies Surveillance System, a population‐based program. There were 51 cases with LBWC, giving a frequency of 1 in 21, 277. Fifty (98.0%) had a body wall defect, and 49 (96.1%) a limb anomaly. Eleven (21.6%) had exencephaly/encephalocele with the required diagnostic facial cleft. Scoliosis, often described as severe, was reported for 39 (76.5%) cases, and a short cord in 21 (41.2%). Twenty (39.2%) also met the diagnostic criteria for BSA, and 10 (19.6%) for at least one other RCEM. An additional seven cases with BSA were included for comparison of anomalies. Modifications to the existing clinical diagnostic criteria for LBWC, to include prenatal imaging findings, are supported by this review of 51 cases.

DYSTOCIA DUE TO MONOCEPHALUS THORACOPHAGUS TETRABRACHIUS TETRAPUS DICAUDATUS IN A PATTANAM SHEEP

2025-06-19

Arun Ranganathan , S. R. Sree Rangasamy , S. Alagar +2 more | Indian journal of veterinary and animal sciences research.

A full-term Pattanam sheep was presented with a history of a ruptured water bag the previous night, accompanied by severe straining and the protrusion of two forelimbs and two hind … A full-term Pattanam sheep was presented with a history of a ruptured water bag the previous night, accompanied by severe straining and the protrusion of two forelimbs and two hind limbs. Vaginal examination revealed a dry birth passage, and the fetal head was not palpable. Furthermore, the limbs could not be separated, raising suspicion of fetal monstrosity. Radiographic evaluation confirmed the presence of a fetal monster characterized by a single head, eight limbs, and two tails, consistent with monocephalus-thoracophagus-tetrabrachius-tetrapus-dicaudatus. The condition was successfully managed through partial fetotomy, enabling vaginal delivery.

Analyzing the global burden of 11 subtypes of congenital birth defects: trends, sociodemographic correlates, and outcomes from 1990 to 2021

2025-06-17

En‐Hua Yang , Feng Chen , Yuansi Zhang +7 more | Annals of Medicine

Congenital birth defects (CBDs) significantly affect child mortality and disability worldwide, yet regional understandings of their burden and contributing factors remain poorly defined. This study examines global trends in prevalence, … Congenital birth defects (CBDs) significantly affect child mortality and disability worldwide, yet regional understandings of their burden and contributing factors remain poorly defined. This study examines global trends in prevalence, disability-adjusted life years (DALYs), and mortality related to CBDs and their 11 subtypes from 1990 to 2021. Employing data from the Global Burden of Disease Study 2021, this cross-sectional analysis covers CBD prevalence, mortality, and DALYs among children aged 0-14 years. It also investigates relationships between these trends and the Socio-Demographic Index (SDI), employing advanced statistics like Joinpoint regression and heatmap analyses to elucidate geographic variations. From 1990 to 2021, global trends in CBD prevalence, mortality, and DALYs generally decreased. The neonatal period (<28 days) presented the highest risk, with notable prevalence, mortality, and DALY rates. Among the 11 subtypes, congenital musculoskeletal and limb anomalies were most prevalent, while Turner syndrome was least common. Congenital heart anomalies recorded the highest mortality and DALYs. There was a negative correlation between CBD burden and SDI. The study underscores the global impact of CBDs on child health, pointing to significant regional disparities linked to socioeconomic factors. The findings advocate for enhanced prevention and management strategies specifically designed for regions with lower SDIs.

De Novo Missense Variant in Bovine <scp><i>WDR33</i></scp> Associated With a Complex Syndromic Form of Cleft Palate With Pentalogy of Fallot and Internal Hydrocephalus

2025-06-17

Marilena Bolcato , Giovanni Romito , Irene M. Häfliger +3 more | Journal of Veterinary Internal Medicine

ABSTRACT Background Cleft palate (CP) is a congenital defect characterized by an opening in the palate. Two crossbred paternal half‐sibs with a complex syndrome including CP were identified. Hypothesis/Objectives Characterize … ABSTRACT Background Cleft palate (CP) is a congenital defect characterized by an opening in the palate. Two crossbred paternal half‐sibs with a complex syndrome including CP were identified. Hypothesis/Objectives Characterize disease phenotype and evaluate the genetic cause of the observed syndrome. Animals Two affected calves, their parents, and 5576 control cattle genomes. Methods The affected animals were evaluated clinicopathologically. Paternal half‐sibling trio‐based whole genome sequencing (WGS) was performed using genomic DNA extracted from the blood of the two affected calves and both dams, and sperm of the common sire. Results The cases were presented with a CP Veau II, permanent recumbency, strabismus, tachycardia, and tachypnea. Echocardiographic findings were consistent with tetralogy of Fallot associated with patent foramen ovale (pentalogy of Fallot). Necropsy examination identified hydrocephalus in addition to CP and confirmed the clinical diagnosis of pentalogy of Fallot. The calves were diagnosed with a complex syndromic form of CP with pentalogy of Fallot and hydrocephalus. Analysis of the breeding data showed that 19/45 recorded offspring of the sire were not viable. Genetic analysis identified a missense variant in WDR33 that was heterozygous in both analyzed cases and in an estimated 40% of the paternal gametes of the mosaic founder, but absent in both dams and controls. Conclusions and Clinical Importance This study alerts veterinarians and breeders to the potential occurrence of dominant de novo mutations in cattle and emphasizes that, in herds using a natural service sire, the consequences of an asymptomatic germline mosaic can be important.

Transplanting/transmitting

2025-06-16

Virginia De Micco | Routledge eBooks

Antenatal Diagnosis of a True Knot of the Umbilical Cord: A Rare Case With a Successful Surgical Outcome

2025-06-15

S. Datta Gupta , S Ramamurthy | Cureus

Omphalocele in newborns: What you need to know

2025-06-15

Onaisa Aalia Mushtaq , Mohsina Aalia Mushtaq | IP Journal of Paediatrics and Nursing Science

Diagnosis and management of hearing loss in congenital Rubella Syndrome: A literature review

2025-06-13

Ni Putu Oktaviani Rinika Pranitasari , I Gusti Ayu Mahaprani Danastri , Elviana Lui Tey Seran | GSC Advanced Research and Reviews

Congenital Rubella Syndrome (CRS) is a condition that results from maternal rubella infection during pregnancy, particularly in the first trimester. This infection can lead to a variety of clinical manifestations … Congenital Rubella Syndrome (CRS) is a condition that results from maternal rubella infection during pregnancy, particularly in the first trimester. This infection can lead to a variety of clinical manifestations in the infant. The virus can cross the placenta and affect fetal development, leading to a range of birth defects. Because of this risk, rubella infection during pregnancy is a major public health concern. Globally, around 236,000 cases of Congenital Rubella Syndrome (CRS) occur each year in developing countries, with Indonesia reporting a rise in incidence from 3.2 in 2015 to 5.6 per 100,000 in 2017. The risk of CRS is 85% when infection occurs within 12 weeks of gestation and may cause severe congenital defects, including congenital heart defects, cataracts, intrauterine growth retardation with sensorineural hearing loss (SNHL) being the most prevalent. It may be unilateral or bilateral and is often not detected until delays in language development become apparent. SNHL in children impairs speech and language development if untreated, necessitating early intervention. Therefore, newborn hearing screening is essential in infants with suspected or confirmed CRS. Rubella-induced damage to the cochlea and auditory nerve underlies SNHL, diagnosed through audiological assessments like otoacoustic emissions (OAE), brainstem evoked response audiometry (BERA), and auditory steady-state response (ASSR). Management involves hearing aids, cochlear implants, and speech therapy, with early intervention by 6 months critical to optimize outcomes. Prevention relies on MMR vaccination and universal newborn hearing screening, particularly in resource-limited settings like Indonesia, where enhanced immunization and screening access are essential to reduce CRS burden.

Gallbladder volvulus

2025-06-12

Eric Tran | Radiopaedia.org

Amniotic Band Sequence in an Intrauterine Fetal Demise at 17 weeks of Pregnancy: A case report

2025-06-12

Vladimı́r Bartoš | Journal of the Dow University of Health Sciences

Isolation and characterization of human cKIT positive amniotic fluid stem cells obtained from pregnancies with spina bifida

2025-06-06

Katarzyna Michalak‐Micka , Nadine Huerlimann , Nicole Ochsenbein‐Kölble +4 more | Scientific Reports

Myelomeningocele (MMC) and myeloschisis (MS) are considered as the most severe forms of spina bifida aperta characterized by incomplete closure of the neural tube during the first trimester of pregnancy. … Myelomeningocele (MMC) and myeloschisis (MS) are considered as the most severe forms of spina bifida aperta characterized by incomplete closure of the neural tube during the first trimester of pregnancy. Open maternal-fetal surgery has been identified as a promising alternative for the repair of MMC/MS. The main goal of this study was the isolation and characterization of stem cells derived from MMC/MS amniotic fluid samples. Human amniotic fluid samples were obtained from pregnant women who underwent surgery for fetal spina bifida repair. We applied fluorescence activated-cell sorting (FACS) to immunoselect stem cells from heterogeneous populations of amniocytes based on cKIT (CD117) expression. The cKIT+ amniocytes were then contrasted with cKIT- and unselected amniocytes in order to characterize the phenotype of these cells. cKIT-expressing amniocytes exhibited spindle-shape morphology, while amniocytes negative for cKIT were round-shaped. qRT-PCR analysis revealed significant upregulation of mean mRNA levels of KIT and CD90 genes and downregulation of CK8 gene in cKIT-expressing amniocytes, compared to the negative and unsorted cells. The expression of pluripotency antigens was comparable in sorted cKIT+ and cKIT- amniocytes and in unselected cells. Our results are of pivotal importance for the future application of amniotic fluid derived stem cells in spina bidfida repair.

Body stalk anomalies and their relationship to amniotic band disruption complex in six cats

2025-06-01

Nieves Martín‐Alguacil , José Miguel Cozar , Luis Avedillo | Journal of Feline Medicine and Surgery

Objectives The aim of this study was to investigate the appearance of body stalk anomalies (BSAs) and amniotic band disruption complex (ABDC) in cats ( Felis catus ), classify these … Objectives The aim of this study was to investigate the appearance of body stalk anomalies (BSAs) and amniotic band disruption complex (ABDC) in cats ( Felis catus ), classify these congenital conditions using a system originally developed for humans and pigs, and provide new insights into the aetiopathogenesis. Methods Six cats suspected of having BSAs and/or ABDC were examined. The classification system for BSA, which includes eight types, was applied to these cases. Detailed observations were made regarding physical deformities, presence of amniotic adhesions and degree of impairment. A comparative analysis with similar conditions in pigs and humans was carried out to highlight differences and similarities. Results Two of the eight BSA classifications used in human and porcine congenital anomalies were detected in the six cats. In the studied cases, the degree of severity was lower than in pigs. The abnormalities associated with BSAs were attributed to the effect of amniotic bands on already formed organs or to the disruption of organ development, leading to a cascade of abnormal events. Conclusions and relevance This study is the first to describe and classify BSAs and ABDC in cats and provides valuable insights into these congenital anomalies. The findings highlight significant differences and similarities between cats and other species, particularly pigs. Understanding the aetiopathogenesis of these conditions is essential to improve clinical management and prognosis. Surgical correction and supportive care can improve the quality of life of affected cats, depending on the severity of the condition. Continued research and collaboration are essential to advance the prevention, diagnosis and treatment of BSAs and ABDC in cats, with wider implications for congenital anomalies across species. Plain language summary This study aims to explore body stalk anomalies (BSAs) and amniotic band disruption complex (ABDC) in cats ( Felis catus ). It classifies these conditions using a system developed for humans and pigs and seeks to understand their causes and management in cats. Six cats with suspected BSAs and/or ABDC were examined. The classification system for BSA, which includes eight types, was applied to these cases. Observations focused on physical deformities, amniotic adhesions and the severity of the conditions. Comparisons were made with similar conditions in pigs and humans. Two of the eight BSA classifications used in human and porcine congenital anomalies were detected in the six cats. In this study, the severity of the condition in cats was lower compared with pigs. The abnormalities were caused by amniotic bands affecting already-formed organs or disrupting organ development, leading to a series of abnormal events. This is the first study to describe and classify BSAs and ABDC in cats. It provides new insights into these congenital conditions and highlights differences and similarities with other species. Surgical correction and supportive care can help affected cats, depending on the severity of their condition. Continued research and collaboration are essential for better prevention, diagnosis and treatment of BSAs and ABDC in cats, with broader implications for congenital anomalies in other species.

Simple vs. Complex Gastroschisis Outcomes: 30-Year Multicenter Review

2025-06-01

Andreina Giron , Peter T. Yu , John Schomberg +5 more | Journal of Pediatric Surgery

The Curious Case of Gallbladder Duplication

2025-06-01

Fahd Jowhari , David Hurlbut | ACG Case Reports Journal

Third trimester diagnosis of body stalk anomaly in a dichorionic diamniotic twin pregnancy

2025-06-01

Sara Wetzler , Meralis Lantigua-Martinez , Sara G. Brubaker +1 more | BMJ Case Reports

This is a case report of a G1P0 woman in her early 30s with a dichorionic diamniotic twin gestation with limited prenatal care and a third trimester diagnosis of body … This is a case report of a G1P0 woman in her early 30s with a dichorionic diamniotic twin gestation with limited prenatal care and a third trimester diagnosis of body stalk anomaly (BSA) in one of the twins. Initially diagnosed with an omphalocele, the patient established care in our centre at 31 weeks gestation, and numerous anomalies were noted on ultrasound. However, definitive characterisation was limited by the advanced gestational age and maternal body habitus. Fetal MRI clearly demonstrated anomalies consistent with BSA. A scheduled caesarean delivery was performed at 36 weeks in the setting of severe pre-eclampsia and fetal growth restriction of the unaffected twin. The affected twin was stillborn and post-mortem inspection confirmed the prenatal diagnosis of BSA with abdominal contents adherent to the placenta. This case highlights the role of fetal MRI in the late diagnosis of multiorgan anomalies, particularly when ultrasound imaging is limited.

Maternal Prenatal Cannabis Use and Major Structural Birth Defects

2025-06-01

Lyndsay A. Avalos , Sara R. Adams , Stacey E. Alexeeff +7 more | Birth Defects Research

ABSTRACT Objective We evaluated associations between prenatal cannabis use and major structural birth defects of the child. Methods This population‐based retrospective cohort study comprised singleton births (January 2011–July 2020) universally … ABSTRACT Objective We evaluated associations between prenatal cannabis use and major structural birth defects of the child. Methods This population‐based retrospective cohort study comprised singleton births (January 2011–July 2020) universally screened for substance use at entrance to prenatal care. Prenatal cannabis use was defined as self‐reported use or a positive toxicology test during pregnancy. Electronic health record and birth certificate data were used to identify 38 specific major structural birth defects within 8 organ systems (i.e., central nervous, eye, ear, cardiac, orofacial/respiratory, gastrointestinal, genitourinary/renal, and musculoskeletal). Modified Poisson regression models were conducted adjusting for propensity scores. Results Of 363,952 infants, 22,494(6.2%) were exposed to maternal prenatal cannabis use, and 6094 infants (2.17%) had a major structural birth defect. Maternal prenatal cannabis use was associated with gastroschisis in the unadjusted (RR = 2.00, 95% CI: 1.25–3.19) and other non‐cannabis prenatal substance use (aRR = 1.68; 95% CI: 1.04–2.71) adjusted models, but not in the models adjusted for maternal age or the propensity score. Maternal prenatal cannabis use was associated with omphalocele in the unadjusted model (RR = 3.04; 95% CI: 1.42–6.48), maternal age‐adjusted model (aRR = 3.54; 95% CI: 1.68–7.48), other prenatal substance use‐adjusted model (aRR = 3.31; 95% CI: 1.50–7.31), and propensity score adjusted model (aRR: 2.92, 95% CI: 1.26–6.77). Cases of gastroschisis and omphalocele were rare: n = 172 (0.05%) and n = 48 (0.01%), respectively. No associations emerged between maternal prenatal cannabis use and any other birth defects. Findings were replicated when cannabis was defined by toxicology testing only. Conclusions Maternal prenatal cannabis use was associated with an increased risk for gastroschisis and omphalocele. Clinicians should provide counseling in a supportive manner to pregnant individuals about the potential harms associated with prenatal cannabis use.

Prenatal Stress Affects CXCR4/SDF1 Signaling in Abdominal Wall Development

2025-06-01

Gabriela Moroşan‐Puopolo , Martin Bablok , Imadeldin Yahya +2 more | Annals of Anatomy - Anatomischer Anzeiger

Avis de publication - Outil d’exploration des données sur les anomalies congénitales au Canada : mise à jour des estimations de la prévalence et des tendances temporelles des anomalies congénitales sur 15 ans (2008 à 2023)

2025-06-01

Chantal Nelson , Katarzyna Naczk , Neetu Shukla +4 more | Promotion de la santé et prévention des maladies chroniques au Canada

Minimally invasive repair of intrathoracic gastric volvulus: A delayed surgical complication after peritonectomy and HIPEC

2025-06-01

Leire Otalora Mazuela , Marta Vicente López , E Licardie Bolaños +1 more | Cirugía Española (English Edition)

Risk factors for neural tube defects in the war and siege-affected tigray regional state of ethiopia: a case-control study

2025-05-31

Birhane Alem Berihu , Afework Mulugeta , Tony Magana +3 more | BMC Pregnancy and Childbirth

Ectopic hepatocellular carcinoma in the gallbladder

2025-05-29

Dalong Wan , Hua Chen , Xu Yang +3 more | HepatoBiliary Surgery and Nutrition

Epidemiological and Histopathological Characteristics of Fetuses with Congenital Disorders: A Study in Greece

2025-05-29

Despoina Nteli , Maria Nteli , Konstantinos Konstantinidis +7 more | Biology

Congenital malformations constitute a major public health issue. Nonetheless, Greece does not participate in the European network of congenital anomalies. To examine the epidemiology of congenital abnormalities and investigate possible … Congenital malformations constitute a major public health issue. Nonetheless, Greece does not participate in the European network of congenital anomalies. To examine the epidemiology of congenital abnormalities and investigate possible factors associated with their development, autopsies were performed on 649 fetuses referred from three healthcare facilities in Thessaloniki during 1992–2008. Adequate statistical analysis methods were implemented. Birth defects were found in 256 fetuses (39.5%)—primarily related to the musculoskeletal (17.3%), nervous (14.5%), cardiovascular (12.5%) and urinary (10.4%) systems. A statistically significant positive correlation (p-values < 0.05) emerged between the presence of a congenital defect and intrauterine growth restriction, inability to identify the fetus’ sex, iatrogenic abortion, nuchal oedema and a single umbilical artery. An inverse association (p-values < 0.05) was deduced with the gestational age, twin pregnancy, stillbirth, chorioamnionitis, infarction and intervillous thrombus of the placenta and nuchal cord. In multivariable analysis, the relationship remained significant (p-values < 0.05) between the development of birth defects and iatrogenic abortion, nuchal oedema, presence of a single umbilical artery, chorioamnionitis, infarction of the placenta and nuchal cord. ROC curve analysis indicated area under the curve = 0.800, 95% confidence interval = 0.76–0.84, p-value = 0.000. Our study revealed the epidemiology of congenital anomalies in Greece, confirming the relationship between various factors and birth defect occurrence.

Sonographic depiction of intestinal wall defects in infants and young children with intestinal perforation

2025-05-29

Benjamin Traubici , Alan Daneman , Selim Doğanay +4 more | Pediatric Radiology

Mechanism of programmed cell death during follicular atresia in poultry

2025-05-28

Jinzhou Peng , Weihuang Lin , Xiaowei Yang +2 more | World s Poultry Science Journal

A Unique Presentation of Velopharyngeal Dysfunction Secondary to Chiari I Malformation

2025-05-28

Julia Fedorova , H Brown , Pedro Fuenmayor +4 more | The Cleft Palate-Craniofacial Journal

An 8-year-old female presented with severe hypernasality and suspected velopharyngeal dysfunction (VPD). Physical examination demonstrated a hypoplastic hemi-velum, tongue atrophy, and deviated uvula. Nasopharyngoscopy demonstrated a significant, asymmetric velopharyngeal gap … An 8-year-old female presented with severe hypernasality and suspected velopharyngeal dysfunction (VPD). Physical examination demonstrated a hypoplastic hemi-velum, tongue atrophy, and deviated uvula. Nasopharyngoscopy demonstrated a significant, asymmetric velopharyngeal gap with adynamic hemi-velum and no lateral pharyngeal wall movement. Given the patient's focal neurologic findings, a magnetic resonance imaging was obtained for further evaluation. Magnetic resonance imaging findings were consistent with Chiari malformation type 1. This case illustrates an unusual presentation of VPD likely secondary to cranial nerve compression and resulting atrophy. Chiari malformation should be considered in the differential diagnosis of noncleft VPD, especially in the setting of palatal asymmetries or other focal neurologic deficits.

Characteristics and concomitant congenital abnormalities among newborns with cancer: A population level analysis.

2025-05-28

Sergio Hernandez-Llamas , Laura Reyes-Uribe , Juan Manuel Armario Vázquez +5 more | Journal of Clinical Oncology

10071 Background: Congenital cancers are rare, occurring in 223 per million infants annually. Neuroblastoma, leukemia, and CNS tumors are most common. Up to one-third of cases involve genetic predispositions, emphasizing … 10071 Background: Congenital cancers are rare, occurring in 223 per million infants annually. Neuroblastoma, leukemia, and CNS tumors are most common. Up to one-third of cases involve genetic predispositions, emphasizing the need to understand developmental abnormalities for improved surveillance, prognosis, and targeted therapies. Methods: A retrospective population-based cohort study was conducted utilizing the Texas Inpatient Public Use Data File (TIPUDF) from 2016 to 2023. The target population consisted of all hospitalizations with Newborn in the source of admission column of the TIPUDF. Hospitalizations discharged more than one year after birth were excluded from the study. The primary exposure was a diagnosis of cancer identified using International Classification of Diseases, Tenth Revisions, Clinical Modification (ICD-10-CM) codes selected from diagnosis chapter NEO: Neoplasms and beginning with C. Outcome variables were selected from diagnosis chapters MAL: Congenital Malformations, Deformations and Chromosomal Abnormalities and PNL: Certain Conditions Originating in the Perinatal Period. Continuous variables are summarized as mean and standard deviation (SD) categorical variables are summarized as counts and percentages. Fisher’s exact test and t-tests assessed group differences, with the standardized mean difference (SMD) used as an effect size. Results: Out of the 2,906,295 newborn admissions in the TIPUDF from 2016-2023, 136 had a diagnosis of cancer. Compared to newborn admission without cancer, newborn admissions with cancer were more often male (62.5% vs 51.0%). Compared to newborns without cancer, newborns with cancer were associated with higher rates of congenital malformations, deformations and chromosomal abnormalities including atrial septal defects (38.2% vs 1.7%, SMD = 1.0256, p < 0.0001), anomalies of the aorta (1.6% vs 39.7%, p < 0.0001), undescended testicles (0.5% vs 2.9%, SMD = 0.1932, p < 0.0037), ventricular septal defects (15.4% vs 0.7%, SMD = 0.5647, p < 0.0001), Atresia and stenosis of urethra and bladder neck (2.2% vs 0.0%, SMD = 0.2119, p < 0.0001), Cleft lip/palate (2.2% vs 0.1%, SMD = 0.1935, p = 0.0009), anomalies of ureter (1.5% vs 0.0%, SMD = 0.1695, p < 0.0003). Newborns with cancer were more frequently affected by maternal conditions and complications including polyhydramnios (2.9% vs 0.2 %, SMD = 0.2260, p < 0.0001) and maternal infectious and parasitic diseases (7.4% vs 2.6%, SMD = 0.2193, p = 0.0032). Conclusions: Congenital cancers are rare but closely linked to congenital abnormalities and maternal complications, emphasizing the importance of early detection and tailored care. Future studies should explore underlying mechanisms and design effective surveillance strategies to enhance early diagnosis and outcomes.