Prenatal Diagnosis with Genetic Amniocentesis / 대한주산의학회잡지

ABSTRACT

OBJECTIVE: Amniocentesis for the diagnosis of prenatal genetic abnormalities is now the standard care for women who are at special risk. because the application of population-based maternal serum screening to prenatal diagnosis is now widespread, we can estimate the trend change of amniocentesis indications. METHODS: Four hundred twenty eight women who were attending the antenaltal clinic of Hanyang University Hospital had a amniocentesis between January 1992 and June 1997. The result were analyzed in reference to indication of amniocentesis, gestational age, pregnancy outcome and karyotype. RESULT: The major indications were abnormal maternal serum marker(53.3%), advanced maternal age(23.8%), previous fetal chromosomal anomaly(7.9%) and the most common age distribution at amniocentesis was 25-29 years(37.9%). The pregnancy outcome was full-term delivery(84.2%), preterm delivery(13.7%), spontaneous abortion(1.4%) and termination of pregnancy(0.7%). Among the 33 cases(7.7%) of abnormal karyotype, structural aberration was 21 cases(4.9%) and numerical aberration was 12 cases(2.8%). Among the numerical aberration, six cases of trisomy 21, five cases of Klinefelter syndrome, and one case of Turner syndrome were found. Among the structural aberration, insertion was most common(nine cases), and seven cases of inversion, four cases of translocation and one case of deletion were found. CONCLUSION: This is a report of genetic amniocentesis, with analysis of the indication, gestational age, karyotype results and complication.