engleski

Prenatal diagnosis of XY female fetus with cystic hygroma

To our knowledge, we describethe first case of an XY female fetus with cystic hygroma, diagnosed at 15 week' s of pregnancy. Amniocentesis and dranige of cystic hygroma fluid were perfomed at 16 week' s of pregnancy. Booth samples were sent for cytogenetic evaluation, and give normal male karyotype. Ultrasonographic examination showed a normal femele genital anatomy, indicating a genotype-phenotype discrepancy. Repeat amniocentesis again revealed a normal male karyotype. FISH analysis was performed on amniocytes usin centromeric probes for chromosome X and Y, and the SRY region (p11.3). This revealed positive signals for cen X, cen Y, and SRY region. The parents have normal karyotypes with unremarkable family history. They were conselled by clinical geneticist and endocrinologist and decided to continue the pregnancy. The child was deliverd vaginally at term, weighed 3250g, and was 50 cm long. The external genitalia were female. The baby was refered to Pediatric Endocrinological Department for further evaluation.

Prenatal diagnosis ; Cystic hygroma

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