Analysis of 1,062 Cases of Genetic Amniocentesis

Bae, J M; Kang, S S; Lee, J H; Jeon, H J; Kim, T H; Yoon, S D; Kim, J I

Abstract

Genetic amniocentesis has become established as a widely used tool for the diagnosis of fetal chromosome abnormalities, neural tube defect, and a variety of metabolic disease. This is an analysis of our experience with 1,062 case that have been undergone amniocentesis at Department of Obstetrics and Gynecology, School of Medicine, Keimyung University and Dr Kim`s Ob & Gyn Clinic from Janua ry 1993 to December 1996. High maternal serum alpha fetoprotein (MSAFP) was the most common indication of amniocentesis (31.3%) and the most common age distribution at amniocentesis was 31~35 years (35.6%). Chromosomal aberration were diagnosed in 66 cases (6.23%) of which numerical aberration was 20 cases (1.88%) and structural aberration was 25 cases (2.35%) with 21 cases (1.97%)normal varients. Autosomal aberration was observed in 15 cases (75%) and sex chromosome aberration was observed five cases (25%). Among the autosomal aberration, six cases of trisomy 21, seven cases of trisomy 18, two cases of trisomy 13 were found. Among the sex chromosome aberration, two cases of Turner syndrome, two cases of Kleinefelter syndrome, one case of triplody were found. Among the structural aberration, 46,XX,t (13:14) Robersonian translocation was the most common ( four cases). No complication was found such as preterm labor, fetal death, and neonatal complication. This is a report of a relatively large series of genetic amniocentesis from a single institution, with analysis of the indication, age distribution, results and complication.