Study on the Abnormal Karyotyping Detected by Cordocentesis in Korean Women

Moon, Shin Yong; Jun, Jong Kwan; Choi, Jin; Hwang, Do Yeong; Choi, Young Min; Kim, Seok Hyun; Yum, Jae Ho; Rho, Ju Won; Yoon, Ji Sung; Ko, Hee Jung; Oh, Sun Kyung; Park, Joong Shin; Yoon, Bo Hyun; Syn, Hee Chul

Abstract

Fetal umbilical blood was obtained by cordocentesis guided by transabdominal USG in 276 fetuses at more than 14 weeks gestation. Fetal daryotyping was carried out in 7 cases of cordocentesis-failed group by cardiocentesis (3 cases) and amniocntesis (4 cases). The 46 cases in 263 fetuses revealed abnormal karyotypes (17.5%). There were 24 cases of numerical abnormality, 14 cases of structural abnormality, 5 cases of mosaicism, and 3 miscellaneous abnormalities. In the numerical abnormalities, trisomies and sex chromosomal abnormalities were 22 and 2 case, respectively. In 22 trisomy cases, there were 16 cases of trisomy of 18 chromosome which is the most common single cytogenetic abnormality in cordocentesis. The most common associated anomalies in trisomy 18 was congenital heart anomaly, in which vetricular septal defect was the most common. Pregnancy outcome is as follows: 22 cases of termination of pregnancy, 9 cases of still-birth, 5 cases of neonatal death, three living babies and 7 cases lost to follow-up.