| First-trimester diagnosis of Meckel-Gruber syndrome by transabdominal sonography in a low-risk case. | |
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MedLine Citation:
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PMID: 8750299 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Meckel-Gruber syndrome is a rare autosomal recessive disorder often resulting in neonatal death within a few hours of life. The condition is usually diagnosed ultrasonographically in the second trimester and earlier diagnosis has been mainly confined to high recurrence risk pregnancies. We describe the earliest non-invasive diagnosis of this condition at 12+2 weeks' gestation in a patient with no previous history using transabdominal ultrasound. Pregnancy termination was declined. Subsequent development of anhydramnios in the mid-trimester resulted in poor fetal visualization. We propose that first-trimester diagnosis of this condition is not only possible but preferable, as normal liquor volume facilitates visualization of fetal anatomy. |
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Authors:
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J M Braithwaite; D L Economides |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Prenatal diagnosis Volume: 15 ISSN: 0197-3851 ISO Abbreviation: Prenat. Diagn. Publication Date: 1995 Dec |
Date Detail:
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Created Date: 1996-09-19 Completed Date: 1996-09-19 Revised Date: 2005-11-17 |
Medline Journal Info:
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Nlm Unique ID: 8106540 Medline TA: Prenat Diagn Country: ENGLAND |
Other Details:
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Languages: eng Pagination: 1168-70 Citation Subset: IM |
Affiliation:
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University Department of Obstetrics and Gynaecology, Royal Free Hospital, London, U.K. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Encephalocele / ultrasonography* Fatal Outcome Female Humans Infant, Newborn Kidney Diseases, Cystic / ultrasonography* Polydactyly / ultrasonography* Pregnancy Pregnancy Trimester, First Syndrome Ultrasonography, Prenatal* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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