Kim S K, Kim I K, Kim C K, Yang Y H, Park T K, Kim K Y
Yonsei Med J. 1989;30(1):16-22. doi: 10.3349/ymj.1989.30.1.16.
Currently the number of pregnant women who have indications for, but do not receive, prenatal cytogenetic diagnosis is increasing. The purpose of this study was to review the prenatal cytogenetic services and to analyze the effect of genetic counseling on performance of the prenatal cytogenetic test. From January 1987 to July 1988, there were 2,796 deliveries at Severance Hospital, Yonsei Medical Center, of which 126 patients had indications for prenatal cytogenetic diagnosis. Chromosomal abnormalities were found in 5 patients (1, monosomy X; 1, trisomy 18; and 3, trisomy 21). Four patients were found in the group who had indications for prenatal cytogenetic diagnosis while only one was found in the group who did not (p less than 0.01). The most common indication for prenatal cytogenetic diagnosis was advanced maternal age (59%). The prenatal test rate was highest in patients whose indications were a previous child with chromosomal abnormality (100%) and parental translocation carrier (100%). Most (89%) of the patients were tested by amniocentesis between the 16th and 20th week of gestation. The two most common reasons for patients not receiving a prenatal cytogenetic diagnosis were late registration (41%) and absence of genetic counseling (34%).
目前，有产前细胞遗传学诊断指征但未接受该诊断的孕妇数量正在增加。本研究的目的是回顾产前细胞遗传学服务，并分析遗传咨询对产前细胞遗传学检测实施情况的影响。1987年1月至1988年7月，延世大学医学院Severance医院共有2796例分娩，其中126例患者有产前细胞遗传学诊断指征。5例患者发现染色体异常（1例X单体；1例18三体；3例21三体）。4例患者在有产前细胞遗传学诊断指征的组中被发现，而在无指征的组中仅发现1例（p<0.01）。产前细胞遗传学诊断最常见的指征是孕妇年龄偏大（59%）。有既往染色体异常患儿（100%）和父母染色体易位携带者（100%）指征的患者产前检测率最高。大多数（89%）患者在妊娠16至20周期间接受了羊膜腔穿刺术检测。患者未接受产前细胞遗传学诊断的两个最常见原因是登记晚（41%）和未接受遗传咨询（34%）。
