Cytogenetic Analysis in 543 cases of amniocentesis / 대한산부인과학회잡지

ABSTRACT

OBJECTIVE: To analyze 543 cases of amniocentesis with indications, cytogenetic results. METHOD: This study includes 543 cases cytogenetic study results which amniocentesis to detect fetal chromosomal abnormality in the Cytogenetic Laboratory at Eun Hospital in Kwang-Ju from August 1996 to December 2000, as gestational ages, indications of amniocentesis, maternal age distributions, chromosome aberrations with cytogenetic results. The cytogenetic results of chromosome aberration was identified by parents inheritance and de novo karyotypes as parents periperal blood cytogenetic study. RESULTS: Amniocentesis performed mostly from 15 weeks to 20 weeks of gestaional ages. Requested indication of amniocentesis presents abnormal maternal serum screening (37%), infertility (23%) and maternal old age (> or =35) (17%). Chromosome aberration according to amniocentesis indication was suspected fetal anomaly by ultrasonogram (8.6%), previous family history (5.7%). Chormosome aberration following maternal ages, more 40 years old women were found highly 7.9%. The frequency of chromosome aberration was 5.5% but de novo chromosome aberration was 2.2%. Numerical aberration was overall new karyotypes (1.3%). Structural aberration was inheritance karyotypes (3.3%) and de novo karyotypes (0.9%). CONCLUSION: Amniocentesis is a effective diagnostic tools in fetal chromosome aberration. Indication of fetal chromosomal anormality by ultrasonography and advanced maternal ages is an important diagnostic method with chromosome aberrations. Prenatal fetal chromosome aberrations included inheritance and de novo karyotypes. Especially, identification of de novo chromosome aberrations may predict fetal anomaly and counsel the fetus for pregnant parents.