CAJ | 학술논문

目的：分析产前诊断中异常核型与指征的关系及异常核型胎儿的调查随访，为遗传咨询提供可靠的依据。方法：对15413例具有产前诊断指征的妊娠妇女在知情同意的情况下，经B型超声引导行羊膜腔穿刺或脐带血穿刺，经培养处理后进行染色体核型分析。有220对胎儿核型异常的父母在知情同意的情况下进行外周血染色体核型分析，之后进行电话随访。结果：细胞培养成功率为99.6%（15349/15413），其中羊水细胞培养成功率99.76%（11299/11326），脐带血细胞培养成功率99.1%（4050/4087）。培养成功者染色体异常占11.20%（1719/15349），其中正常多态性占8.70%（1335/15349），染色体数目异常占1.72%（264/15349），结构异常占0.79%（121/15349）。按产前诊断指征分布筛查高危的核型异常率，唐氏综合征为10.67%（879/8236），高龄妊娠为9.76%（128/1312），不良孕产史为12.27%（138/1125），超声异常为11.41%（124/1087），胎儿畸形引产为23.91%（132/552）。异常核型的胎儿中有108例来自母亲，69例来自父亲，43例为新发生。结论：高危妊娠妇女行产前诊断染色体分析有助于减少出生缺陷。
목적：분석산전진단중이상핵형여지정적관계급이상핵형태인적조사수방，위유전자순제공가고적의거。방법：대15413례구유산전진단지정적임신부녀재지정동의적정황하，경B형초성인도행양막강천자혹제대혈천자，경배양처리후진행염색체핵형분석。유220대태인핵형이상적부모재지정동의적정황하진행외주혈염색체핵형분석，지후진행전화수방。결과：세포배양성공솔위99.6%（15349/15413），기중양수세포배양성공솔99.76%（11299/11326），제대혈세포배양성공솔99.1%（4050/4087）。배양성공자염색체이상점11.20%（1719/15349），기중정상다태성점8.70%（1335/15349），염색체수목이상점1.72%（264/15349），결구이상점0.79%（121/15349）。안산전진단지정분포사사고위적핵형이상솔，당씨종합정위10.67%（879/8236），고령임신위9.76%（128/1312），불량잉산사위12.27%（138/1125），초성이상위11.41%（124/1087），태인기형인산위23.91%（132/552）。이상핵형적태인중유108례래자모친，69례래자부친，43례위신발생。결론：고위임신부녀행산전진단염색체분석유조우감소출생결함。
Objective: To analyze retrospectively the abnormal karyotypes, and the indications of prenatal diagnosis, and to follow-up survey those fetuses with abnormal karyotypes, so as to provide references for genetic counseling. Methods: Chromosomal karyotype analysis was performed in 15 413 cases with the indications of prenatal diagnosis, using fetal samples by amniocentesis or umbilical cord puncture with the informed consent. Total 220 pairs with abnormal karyotype fetuses were surveyed follow-up by phone, and their child were checked chromosomal karyotypes using peripheral blood samples. Results: Total success rate of cell culture was 99.6%(15 349/15 413), including 99.76%(11 299/11 326) in amniotic fluid samples and 99.1%(4 050/4 087) in umbilical cord blood samples. The rate of chromosomal abnormalities was 11.20%(1 719/15 349), including 8.70% (1 335/15 349) normal polymorphism, 1.72% (264/15 349) abnormal number of chromosomes and 0.79% (121/15 349) structural abnormalities of chromosomes. Classified according to the indications of prenatal diagnosis, the rates of chromosomal abnormalities were as follows, 10.67% (879/8 236) Down′s syndrome, 9.76% (128/1 312) elderly pregnant women, 12.27%(138/1 125) history of adverse pregnancy, 11.40%(124/1 087) abnormality found by B-ultrasound, 23.91%(132/552) abortion due to fetal malformation. In those chromosomal abnormalities, 108 abnormal karyotypes were from mothers, 69 from fathers, 43 from spontaneous abnormalities. Conclusions: The prenatal diagnosis and chromosomal analysis in those high-risk pregnant women are helpful to reduce birth defects.