ACase of the Patau Syndrome Diagnosed in Second Trimester / 대한주산의학회잡지

ABSTRACT

Patau syndrome is trisomy 13, one of the most common autosomal aberration associated with multiple congenital anomalies. Because trisomy 13 is generally associated with severe congenital anomalies and postpartum poor prognosis, antenatal diagnosis through antenatal ultra-sonogram and triple screening marker is very important. We present one case of trisomy 13 with abnormal ultrasound finding, holoprosencephaly, microcephaly, cleft lip and palate. And confirmed chromosomally with pregnancy termination.