Document Detail


Familial diseases revealed by a fetal anomaly.
MedLine Citation:
PMID:  17139695     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
OBJECTIVES: The recognition of a fetal anomaly can lead to the same diagnosis being made in one of the asymptomatic parents unaware of the problem. We analyzed cases in which the discovery of a fetal anomaly led to the discovery of a genetic familial disorder. METHODS: Families in which the recognition of a fetal anomaly led to the same diagnosis being made in one of the asymptomatic parents were included. RESULTS: Twenty couples were included in the study. The fetal anomalies were cleft lip and palate (4), cardiac anomalies (2), cerebral anomalies (1), bilateral club feet with polyhydramnios, akinesia or camptodactily (5), nuchal anomalies (2), micromelia (3), polydactyly (2), and limited elbow extension (1). Genetic counselling helped establish nine maternal diseases as follows: Steinert disease (3), spinal muscular atrophy (1), antecubital pterygium (1), DiGeorge (1), Wardenburg type II (1), Charge (1) and Greig syndromes (1). Eleven paternal diseases were discovered, which were Noonan-like syndrome (1), paternal cervical anomalies (1), Goldenhar syndrome (1), dominant autosomal arthrogryposis (1), osteogenesis imperfecta (3), tuberous sclerosis (1), dominant transposition of great vessels (1), Weyers acrofacial dysostosis (1), and autosomal dominant holoprosencephaly (1). Twelve couples continued with pregnancy and eight opted for termination of pregnancy. CONCLUSION: The fetus is central in giving the first insight into a familial disorder. It can reveal familial diseases undiscovered in the parent and help understand the mode of transmission of an anomaly, mainly the autosomal dominant diseases with variable expressions.
Authors:
R Robyr; J-P Bernard; J Roume; Y Ville
Related Documents :
21932965 - Stroke in pregnant and postpartum women.
12243245 - Microchimerism in health and disease.
686045 - Problems encountered in the treatment of pregnancy-induced hypertension. a point of view.
382165 - Renal disease in pregnancy.
20305605 - Ziprasidone as a possible cause of cleft palate in a newborn.
14562645 - Concomitant abdominal and intrauterine pregnancy after in vitro fertilization in a woma...
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Prenatal diagnosis     Volume:  26     ISSN:  0197-3851     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  2006 Dec 
Date Detail:
Created Date:  2006-12-07     Completed Date:  2007-02-20     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  England    
Other Details:
Languages:  eng     Pagination:  1224-34     Citation Subset:  IM    
Copyright Information:
Copyright (c) 2006 John Wiley & Sons, Ltd.
Affiliation:
Department of Obstetrics and Gynecology, Paris-Ouest University VSQ, France.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / diagnosis,  genetics*
Family Health*
Female
Fetus / abnormalities*
Genetic Counseling
Genetic Predisposition to Disease*
Genetic Testing*
Gestational Age
Humans
Male
Prenatal Diagnosis

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Detection of cell-free fetal DNA in maternal urine.
Next Document:  Prenatal RR fluctuations dynamics: detecting fetal short-range fractal correlations.