Second-trimester detection of Mowat-Wilson syndrome using comparative genomic hybridization microarray testing.
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.


METHODS
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.


CONCLUSIONS
Array comparative genomic hybridization is a useful complementary diagnostic tool in fetuses with increased nuchal translucency but apparently normal karyotypes.
Choy
Kwong Wai
KW
From the Fetal Medicine Unit, Department of Obstetrics and Gynecology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong SAR; the Li Ka Shing Institute of Health Sciences, Department of Anatomical and Cellular Pathology, The Chinese University of Hong Kong, Hong Kong SAR.
To
Ka Fai
KF
Chan
Anthony Wing Hung
AWH
Lau
Tze Kin
TK
Leung
Tak Yeung
TY
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D000028:Abortion, Induced; D000328:Adult; D007446:Chromosome Inversion / Q000235:genetics; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D055028:Comparative Genomic Hybridization; D005260:Female; D017353:Gene Deletion; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D007621:Karyotyping; D046228:Microarray Analysis; D048208:Nuchal Translucency Measurement; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D012097:Repressor Proteins / Q000235:genetics; D013577:Syndrome; D000074165:Zinc Finger E-box Binding Homeobox 2
D018398:Homeodomain Proteins; D012097:Repressor Proteins; C492363:ZEB2 protein, human; D000074165:Zinc Finger E-box Binding Homeobox 2