임상연구 : 한국인 여성에서 제대혈 천차술을 이용한 염색체 검사에서 발견된 비정상 핵형에 관한 연구

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.