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目的通过对高龄孕妇的羊水、脐带血进行培养及核型分析来探讨高龄孕妇所孕胎儿染色体异常情况及三体发生率与年龄的相关性,为遗传咨询和产前诊断提供理论依据。方法通过对2010年至2011年,两年间在我院遗传门诊就诊的1790例高龄(≥35周岁)孕妇进行羊膜腔穿刺或脐带血管穿刺,抽取羊水及脐带血做细胞培养,观察培养情况,并进行核型分析。分析高龄孕妇染色体异常核型检出情况。结果 1790例高龄孕妇中共检出核型异常158例,异常检出率为8.82%。在不同年龄组,35-37岁,38-40岁,≥41岁三体发病率分别为1.06%,1.42%,2.08%。结论高龄孕妇随年龄增长染色体异常几率增加,高龄孕妇有必要行产前诊断。
OBJECTIVE: To investigate the relationship between chromosomal abnormalities and the incidence of trisomy in elderly pregnant women and their age by culturing and karyotype analysis of amniotic fluid and umbilical cord blood in the elderly pregnant women and to provide theoretical basis for genetic counseling and prenatal diagnosis. Methods By means of amniocentesis or umbilical cord blood puncture of 1790 elderly women (≥35 years of age) attending genetic clinics in our hospital from 2010 to 2011, two years later, amniotic fluid and umbilical cord blood were drawn for cell culture and observed for culture Karyotype analysis. Analysis of elderly pregnant women detected chromosomal abnormalities karyotype. Results A total of 158 cases of karyotypic abnormalities were detected in 1790 pregnant women with an abnormal detection rate of 8.82%. In different age groups, the incidence rates of trisomy 35-37 years old, 38-40 years old and ≥41 years old were 1.06%, 1.42% and 2.08% respectively. Conclusion There is an increased risk of chromosomal abnormalities in older pregnant women with age. Prenatal diagnosis is needed in pregnant women with advanced age.