Document Detail

Second-trimester detection of Mowat-Wilson syndrome using comparative genomic hybridization microarray testing.
MedLine Citation:
PMID:  20093881     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: Fetuses with increased nuchal translucency but apparently normal karyotypes may have small genetic defects that are undetectable by conventional cytogenetic studies. Microarray comparative genomic hybridization (array comparative genomic hybridization) may help prenatal diagnosis by revealing small genetic defects. CASE: A patient presented with a fetus with large nuchal translucency and ambiguous genitalia at 13 weeks of gestation. Conventional fetal karyotype by chorionic villus sampling was 46,XY,inv (1)(p31q42). The inversion was de novo. Further analysis by array comparative genomic hybridization revealed a single-copy ZEB2 gene deletion at 2q22.3 consistent with Mowat-Wilson syndrome. Ultrasonography at 17 weeks revealed a reduced nuchal fold of 5 mm. The patient decided to terminate the pregnancy, which was completed uneventfully at 17 weeks of gestation. CONCLUSION: Array comparative genomic hybridization is a useful complementary diagnostic tool in fetuses with increased nuchal translucency but apparently normal karyotypes.
Kwong Wai Choy; Ka Fai To; Anthony Wing Hung Chan; Tze Kin Lau; Tak Yeung Leung
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Obstetrics and gynecology     Volume:  115     ISSN:  1873-233X     ISO Abbreviation:  Obstet Gynecol     Publication Date:  2010 Feb 
Date Detail:
Created Date:  2010-01-22     Completed Date:  2010-05-26     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0401101     Medline TA:  Obstet Gynecol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  462-5     Citation Subset:  AIM; IM    
Fetal Medicine Unit, Department of Obstetrics and Gynecology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong SAR.
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MeSH Terms
Abnormalities, Multiple / diagnosis*,  genetics*
Abortion, Induced
Chromosome Inversion / genetics
Chromosomes, Human, Pair 1 / genetics
Comparative Genomic Hybridization*
Gene Deletion
Homeodomain Proteins / genetics
Microarray Analysis
Nuchal Translucency Measurement*
Pregnancy Trimester, Second
Repressor Proteins / genetics
Reg. No./Substance:
0/Homeodomain Proteins; 0/Repressor Proteins; 0/ZEB2 protein, human

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