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目的通过孕中期羊膜腔穿刺羊水染色体核型分析结果,探讨胎儿染色体异常的临床高危因素,提高临床医师对羊水染色体核型分析产前诊断指征的认识。方法对311例孕16～28w有产前诊断指证的孕妇在B超定位下行羊膜腔穿刺术,抽取羊水进行培养、G显带染色及染色体核型分析。结果共检出染色体核型异常13例,占4.18%。其中孕妇或丈夫为染色体异常者中5例(5/6),高龄孕妇(年龄≥35岁)中4例(4/161),有21-三体或18-三体生育史孕妇中1例(1/30),年龄<35岁,唐氏综合征血清学筛查高危孕妇中2例(2/87),畸形儿生育史孕妇中1例(1/1),单纯超声“软指标”及无产前诊断指征自愿要求孕妇中未检出染色体核型异常。结论羊水染色体核型分析是诊断胎儿染色体病的有效手段。夫妇有一方为染色体异常、孕妇高龄、唐氏综合征血清学筛查高危、非整倍体儿及畸形儿生育史均为胎儿染色体异常的临床高危因素,应引起临床医师的高度重视。
Objective To investigate the clinical risk factors of fetal chromosomal abnormalities by means of karyotype analysis of amniotic fluid during the second trimester of pregnancy so as to improve clinicians’ cognition of prenatal diagnosis of amniotic fluid karyotype analysis. Methods 311 pregnant women with prenatal diagnosis of pregnancy from 16 to 28 weeks were subjected to amniocentesis by B-mode ultrasound, amniotic fluid extraction, G-banding staining and karyotype analysis. Results A total of 13 cases were found karyotype abnormalities, accounting for 4.18%. Among them, 5 (5/6) were pregnant women or husbands with chromosomal abnormalities, 4 (4/161) were pregnant women (≥35 years old), and 1 was pregnant with 21- trisomy or 18- trisomy (1/30), age <35 years old, two cases (2/87) of high risk pregnant women with Down’s syndrome serological screening, one case (1/1) pregnant women with fertility history, simple ultrasound “soft index ”And no indication of prenatal diagnosis Voluntary pregnant women were not detected karyotype abnormalities. Conclusions Amniotic fluid chromosome karyotype analysis is an effective method to diagnose fetal chromosomal diseases. One of the couples had chromosomal abnormalities, advanced age of pregnant women, high risk of Down’s syndrome serological screening, and anemia of aneuploidy were all risk factors of fetal chromosomal abnormalities, which should be paid more attention to by clinicians.