Xiao H, Yang Y L, Zhang C Y, Liao E J, Zhao H R, Liao S X
a Medical Genetic Institute of Henan Province, People's Hospital of Zhengzhou University , Zhengzhou , China.
J Obstet Gynaecol. 2016;36(3):293-6. doi: 10.3109/01443615.2015.1041889. Epub 2015 Oct 7.
We explored the strategies of prenatal diagnosis by foetal karyotype analysis in pregnant women with indications for genetic amniocentesis. Karyotype analysis of amniotic fluid was performed on 12365 pregnant women with indications for genetic amniocentesis. The detection rates and distributions of abnormal karyotypes were observed in a variety of indications for genetic amniocentesis. The detection rates of abnormal karyotype were 57.4% in either a mother or father with chromosomal abnormality, 8.5% in the pregnant women with pathological ultrasound finding (PUF), 2.79% in the pregnant women with advanced age (35 years and over) and 2.23% in the women with abnormal maternal serum screening (MSS) tests. Foetal abnormal karyotype was found in 86 pregnant women with PUF; of the 86 pregnant women, 42 had trisomy 13, 18 or 21. Of the 12365 pregnant women, foetal abnormal karyotype was found in 428 (3.46%); of the 428 foetuses, only 154 had trisomy 13, 18 or 21. In the pregnant women with abnormal MSS, 111 foetuses had abnormal karyotype, but only 36 foetuses had trisomy 13, 18 or 21. We conclude that (1) ultrasound is an important approach to prevent the birth of foetuses with chromosomal disease. (2) Non-invasive prenatal DNA detection cannot completely replace invasive prenatal diagnosis and MSS. (3) The strategies of prenatal diagnosis: Genetic amniocentesis is strongly recommended for the pregnant women with indications for genetic amniocentesis. For pregnant women who refuse invasive prenatal diagnosis, non-invasive prenatal DNA detection is first performed. If the results of non-invasive prenatal DNA detection are negative, the pregnant women are followed up by ultrasound; if the results of non-invasive prenatal DNA detection are positive, the pregnant women should undergo invasive prenatal diagnosis.
我们探讨了对有遗传羊膜腔穿刺指征的孕妇进行胎儿核型分析的产前诊断策略。对12365例有遗传羊膜腔穿刺指征的孕妇进行了羊水核型分析。观察了各种遗传羊膜腔穿刺指征下异常核型的检出率及分布情况。父母一方有染色体异常时异常核型的检出率为57.4%，有病理超声检查结果（PUF）的孕妇中为8.5%，高龄（35岁及以上）孕妇中为2.79%，母血清筛查（MSS）试验异常的孕妇中为2.23%。在86例有PUF的孕妇中发现胎儿异常核型；在这86例孕妇中，42例有13、18或21三体。在12365例孕妇中，428例（3.46%）发现胎儿异常核型；在这428例胎儿中，只有154例有13、18或21三体。在MSS异常的孕妇中，111例胎儿有异常核型，但只有36例胎儿有13、18或21三体。我们得出结论：（1）超声是预防染色体疾病胎儿出生的重要方法。（2）无创产前DNA检测不能完全替代有创产前诊断和MSS。（3）产前诊断策略：强烈建议对有遗传羊膜腔穿刺指征的孕妇进行遗传羊膜腔穿刺。对于拒绝有创产前诊断的孕妇，首先进行无创产前DNA检测。如果无创产前DNA检测结果为阴性，对孕妇进行超声随访；如果无创产前DNA检测结果为阳性，孕妇应进行有创产前诊断。
