[Prenatal diagnosis of a fetus in a family with mandibulofacial dysostosis].
OBJECTIVE
To measure the feasibility of application of comparative genomic hybridization technique in the prenatal diagnosis of fetus with mandibulofacial dysostosis.


METHODS
A pregnant woman having a fetus with mandibulofacial dysostosis diagnosed by prenatal ultrasound test was selected. The amniotic fluid and blood of the pregnant and blood of her husband were collected and conventional cytogenetic analysis was performed. The whole genome was scanned by array comparative genomic hybridization assay (array-CGH). Reverse transcription fluorescence quantitative PCR (RT-qPCR) analysis was used to verify the result of array-CGH.


RESULTS
No abnormality was found in conventional cytogenetic analysis while a duplicated region in 1p36.33 was detected by array-CGH assay. The region spans 722 kb and contains two genes, VWA1 and PYGO2, which play roles in the development of cartilage. The result of array-CGH was confirmed by the RT-qPCR assay. The diagnosis of mandibulofacial dysostosis was confirmed after birth.


CONCLUSIONS
Author diagnosed a fetus with mandibulofacial dysostosis by array-CGH assay and found two candidate genes related to the development of craniofacial bone: VWA1 and PYGO2.
Liu
Yan-hui
YH
Laboratory Center of Tunwah Hospital, Sun Yat-sen University, Dongguan, Guangdong, 523110 PR China.
Shi
Shao-quan
SQ
Zhang
Yan-liang
YL
Dai
Yong
Y
Shang
Xuan
X
Wu
Ya-min
YM
Li
Chao-qiang
CQ
Li
Li-fen
LF
D000328:Adult; D002869:Chromosome Aberrations; D055028:Comparative Genomic Hybridization / Q000379:methods; D005260:Female; D005333:Fetus / Q000473:pathology; D006801:Humans; D007621:Karyotyping / Q000379:methods; D008342:Mandibulofacial Dysostosis / Q000235:genetics*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*