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目的研究孕中期妇女胎儿唐氏综合征(DS)、18-3体综合征和开放性神经管畸形的产前筛查,对筛查获得的高风险和高龄孕妇进行羊水细胞学、高分辨超声的产前诊断在减少出生缺陷中的价值。方法对孕龄在15~20周的28 749例年龄<35岁的单胎孕妇进行唐氏综合征产前筛查,>35岁及其他异常生育史的单胎孕妇直接进行产前诊断。结果筛查出高风险孕妇1245例,筛查总高风险率4.33%,其中包括21-三体高风险1084例,18-三体高风险54例,神经管畸形高风险107例。对筛查获得的高风险孕妇及高龄孕妇进行遗传咨询,在知情同意的情况下选择羊水染色体或高分辨超声检查,其中开展产前诊断孕妇1628例,确诊11例21-三体综合征,3例18-三体综合征,9例神经管畸形。确诊畸形儿均及时终止妊娠。产前筛查的追踪随访率达97.94%,随访中发现385例出生缺陷,共有229例严重畸形及时终止妊娠。结论孕中期产前筛查/产前诊断作为出生缺陷的二级预防,发挥了重要的作用,有效地避免了严重畸形儿的出生。
Objective To study prenatal screening of fetus with Down’s syndrome (DS), 18-3 syndrome and open neural tube defects in the second trimester of pregnancy. The high risk and advanced pregnant women were screened for amniotic fluid cytology, high resolution ultrasound Prenatal diagnosis in reducing the value of birth defects. Methods Prenatal diagnosis of 28 749 singleton pregnant women <35 years of gestational age at 15 to 20 weeks of prenatal screening for Down Syndrome, singleton pregnancies> 35 years old and other abnormalities in childbirth were performed directly. Results A total of 1245 high-risk pregnant women were screened. The total risk of screening was 4.33%, including 1084 cases with high trisomy 21, 54 cases with high 18-trisomy, and 107 cases with high risk of neural tube defects. High-risk screening of pregnant women and pregnant women with advanced genetic counseling, with informed consent of amniocentesis or high-resolution ultrasound, including the diagnosis of prenatal diagnosis of 1628 pregnant women, diagnosed 11 cases of trisomy 21, 3 Example 18 - Trisomy, 9 cases of neural tube defects. Confirmed deformity children were terminated in time for pregnancy. Follow-up rate of prenatal screening was 97.94%, 385 cases of birth defects were found during follow-up, a total of 229 cases of severe deformity and timely termination of pregnancy. Conclusion The prenatal screening / prenatal diagnosis in the second trimester plays an important role as secondary prevention of birth defects and effectively avoids the birth of severely deformed children.