Prenatal diagnosis of tibial hemimelia type I and omphalocele, a rare entity and postnatal correlation

Hemimelia is a rare anomaly affecting the distal long bones of extremities, with an occurrence of 1–20 cases per million of live births depending on the affected bone. Hemimelia can be an isolated defect or be part of complex syndromes that affect extra skeletal structures. Prenatal detection by routine ultrasound imaging is difficult and yields low detection rates. The prenatal diagnosis of hemimelia should prompt a complete and detailed study of the fetal anatomy, since it can be associated with defects in other structures and systems, as the reported in this case. The prognosis depends upon the associated anomalies.

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Prenatal Diagnosis of Cleft Lip and Palate: Detection Rates, Accuracy of Ultrasonography, Associated Anomalies, and Strategies for Counseling

The Cleft Palate-Craniofacial Journal ◽

10.1597/1545-1569_2002_039_0169_pdocla_2.0.co_2 ◽

2002 ◽

Vol 39 (2) ◽

pp. 169-173 ◽

Cited By ~ 3

Author(s):

Marilyn C. Jones

Keyword(s):

Prenatal Diagnosis ◽

Cleft Lip ◽

Cleft Lip And Palate ◽

Associated Anomalies ◽

Detection Rates

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Prenatal Diagnosis of Cleft Lip and Palate: Detection Rates, Accuracy of Ultrasonography, Associated Anomalies, and Strategies for Counseling

The Cleft Palate-Craniofacial Journal ◽

10.1597/1545-1569(2002)039<0169:pdocla>2.0.co;2 ◽

2002 ◽

Vol 39 (2) ◽

pp. 169-173 ◽

Cited By ~ 32

Author(s):

Marilyn C. Jones

Keyword(s):

Prenatal Diagnosis ◽

Cleft Lip ◽

Cleft Lip And Palate ◽

Associated Anomalies ◽

Detection Rates

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Prenatal diagnosis and prevalence of critical congenital heart defects: an international retrospective cohort study

BMJ Open ◽

10.1136/bmjopen-2018-028139 ◽

2019 ◽

Vol 9 (7) ◽

pp. e028139 ◽

Cited By ~ 14

Author(s):

Marian K Bakker ◽

Jorieke E H Bergman ◽

Sergey Krikov ◽

Emmanuelle Amar ◽

Guido Cocchi ◽

...

Keyword(s):

Prenatal Diagnosis ◽

Live Birth ◽

Congenital Heart Defects ◽

Congenital Heart ◽

Slovak Republic ◽

Heart Defects ◽

Detection Rates ◽

Prenatal Detection ◽

International Trends ◽

Total Prevalence

ObjectivesTo assess international trends and patterns of prenatal diagnosis of critical congenital heart defects (CCHDs) and their relation to total and live birth CCHD prevalence and mortality.SettingFifteen birth defect surveillance programmes that participate in the International Clearinghouse for Birth Defects Surveillance and Research from 12 countries in Europe, North and South America and Asia.ParticipantsLive births, stillbirths and elective terminations of pregnancy for fetal anomaly diagnosed with 1 of 12 selected CCHD, ascertained by the 15 programmes for delivery years 2000 to 2014.Results18 243 CCHD cases were reported among 8 847 081 births. The median total prevalence was 19.1 per 10 000 births but varied threefold between programmes from 10.1 to 31.0 per 10 000. CCHD were prenatally detected for at least 50% of the cases in one-third of the programmes. However, prenatal detection varied from 13% in Slovak Republic to 87% in some areas in France. Prenatal detection was consistently high for hypoplastic left heart syndrome (64% overall) and was lowest for total anomalous pulmonary venous return (28% overall). Surveillance programmes in countries that do not legally permit terminations of pregnancy tended to have higher live birth prevalence of CCHD. Most programmes showed an increasing trend in prenatally diagnosed CCHD cases.Discussion and conclusionsPrenatal detection already accounts for 50% or more of CCHD detected in many programmes and is increasing. Local policies and access likely account for the wide variability of reported occurrence and prenatal diagnosis. Detection rates are high especially for CCHD that are more easily diagnosed on a standard obstetric four-chamber ultrasound or for fetuses that have extracardiac anomalies. These ongoing trends in prenatal diagnosis, potentially in combination with newborn pulse oximetry, are likely to modify the epidemiology and clinical outcomes of CCHD in the near future.

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Rare Anomaly of Common Bile Duct in Association with Distal Cholangiocarcinoma

Case Reports in Surgery ◽

10.1155/2018/8351913 ◽

2018 ◽

Vol 2018 ◽

pp. 1-3

Author(s):

Arun Pandey ◽

Rajesh Mandal ◽

Paleswan Joshi Lakhey

Keyword(s):

Bile Duct ◽

Common Bile Duct ◽

Extrahepatic Bile Duct ◽

Whipple Procedure ◽

Biliary System ◽

Type I ◽

Rare Entity ◽

Distal Cholangiocarcinoma ◽

Rare Anomaly

Duplication of common bile duct is a rare entity and its association with distal cholangiocarcinoma is extremely rare. It represents failure of regression of the embryological double biliary system. Here, we describe the diagnostic and therapeutic challenges of a type I variant of the extrahepatic bile duct duplication coexistent with distal cholangiocarcinoma that was diagnosed intraoperatively while treating with Whipple procedure for distal cholangiocarcinoma.

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Diagnosis of congenital heart disease in an era of universal prenatal ultrasound screening in southwest Ohio

Cardiology in the Young ◽

10.1017/s1047951113001467 ◽

2013 ◽

Vol 25 (1) ◽

pp. 35-41 ◽

Cited By ~ 8

Author(s):

Priya Sekar ◽

Haleh C. Heydarian ◽

James F. Cnota ◽

Lisa K. Hornberger ◽

Erik C. Michelfelder

Keyword(s):

Congenital Heart Disease ◽

Heart Disease ◽

Prenatal Diagnosis ◽

Congenital Heart ◽

Diagnostic Ultrasound ◽

Educational Outreach ◽

Ultrasound Screening ◽

Detection Rates ◽

Factors Affecting ◽

Prenatal Detection

AbstractObjectivesDiagnostic ultrasound is widespread in obstetric practice, yet many babies with major congenital heart disease remain undiagnosed. Factors affecting prenatal diagnosis of major congenital heart disease are not well understood. This study aims to document prenatal detection rates for major congenital heart disease in the Greater Cincinnati area, and identify factors associated with lack of prenatal diagnosis.MethodsAll living infants diagnosed with major congenital heart disease by 4 months of age at our centre were prospectively identified. Prenatal care data were obtained by parent interview. Neonatal records were reviewed for postnatal data. Obstetricians were contacted for diagnostic ultrasound data.ResultsA total of 100 infants met the inclusion criteria. In all, 95 infants were analysed, of whom 94 were offered diagnostic ultrasound. In all, 41 had a prenatal diagnosis of major congenital heart disease. The rate of prenatal detection varied by cardiac lesion, with aortic arch abnormalities, semilunar valve abnormalities, and venous anomalies going undetected in this sample. Among subjects without prenatal detection, the highest proportion consisted of those having Level 1 diagnostic ultrasound only (66%). Prenatal detection was not significantly influenced by maternal race, education level, income, or insurance type.ConclusionsDespite nearly universal diagnostic ultrasound, detection rates of major congenital heart disease remain low in southwest Ohio. An educational outreach programme including outflow tract sweeps for community-level obstetrical personnel may improve detection rates.

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Bilateral scrotoshisis a rare entity: case report

Annals of Pediatric Surgery ◽

10.1186/s43159-020-00067-3 ◽

2021 ◽

Vol 17 (1) ◽

Author(s):

Shazia Perveen ◽

Mishraz Shaikh ◽

Sajid Ali

Keyword(s):

Case Report ◽

Rare Entity ◽

Case Presentation ◽

Rare Anomaly ◽

Normal Term ◽

Twin Delivery

Abstract Background Scrotoschisis is a rare anomaly in which the testis is lying outside scrotum congenitally. Only few cases have been reported in literature under different names most of which are unilateral. We have found only one case of bilateral scrotoschisis in literature. Case presentation Newborn presented to us after normal term twin delivery as a case of bilateral scrotoschisis in which both testes were lying outside the scrotum congenitally. Baby underwent uneventful bilateral orchiopexy and was discharged home the next day. Conclusion Scrotoschisis is a very rare genital anomaly with only a few cases reported in literature. This report would add to the literature which would help in studying the exact mechanism and embryopathogenesis of this anomaly which is not known yet.

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Neonatal transcatheter closure of a right pulmonary artery to left atrium fistula

Cardiology in the Young ◽

10.1017/s1047951121000068 ◽

2021 ◽

pp. 1-3

Author(s):

Claire Bertail-Galoin

Keyword(s):

Prenatal Diagnosis ◽

Pulmonary Artery ◽

Left Atrium ◽

Neonatal Period ◽

Transcatheter Closure ◽

Rare Entity ◽

Amplatzer Duct Occluder ◽

Right Pulmonary Artery ◽

The Right ◽

Surgical Treatments

Abstract A fistula between the pulmonary artery and the left atrium is a rare entity and its diagnosis is uncommon in the neonatal period. There are more reported surgical treatments in the literature than with a transcatheter closure. We report the case of a prenatal diagnosis of a large fistula between the right pulmonary artery and the left atrium with successful transcatheter closure with an Amplatzer duct occluder II 6/4 mm.

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