康丽华　杨小花　曾雪玲　吴雅燕

摘要：目的：探討孕11-13+6周产前筛查胎儿严重结构畸形的临床意义。方法：选取我院2019年1月-2020年1月收治的200例行孕11-13+6周产前筛查的孕妇作为研究对象，通过产前筛查，探究其临床意义。结果：200例孕妇中，通过孕11-13+6周产前筛查，共筛查出2例腹裂，占比1.0%;2例露脑、无脑，占比1.0%;3例肢体异常，占比1.5%;2例全前脑，占比1.0%;2例联体双胎，占比1.0%;1例单腔心，占比0.5%，其筛查准确率为92.30%（12/13）。200例孕妇中，共有187例孕妇属于正常健康胎儿，其中13例胎儿存在严重结构异常;13例胎儿均行引产，其中有2例腹裂，占比1.0%;2例露脑、无脑，占比1.0%;3例肢体异常，占比1.5%;2例全前脑，占比1.0%;2例联体双胎，占比1.0%;1例单腔心，占比0.5%，1例开放性脊柱裂，占比0.5%。结论：孕妇孕11-13+6周产前行筛查胎儿，可以及时发现胎儿严重结构畸形，不仅能够提供重要的遗传学信息，还能尽早采取补救措施，提升优生优育率，减轻孕妇的痛苦和社会压力。

关键词：孕11-13+6周;产前筛查;胎儿严重结构畸形;临床意义

中图分类号：R445.1;R714.53文献标识码：BDOI：10.3969/j.issn.1001-0270.2021.02.05

Clinical Significance of Prenatal Screening for Fetal Severe Structural Malformation at 11-13+6 Weeks of Gestation

KANG Li-hua， YANG Xiao-hua， ZENG Xue-ling， WU Ya-yan

（Department of Function， Maoming Maternal and Child Care Health Hospital， Guangdong 525000， China）

Abstract： Objective： To explore the clinical significance of prenatal screening for fetal severe structural malformations during 11-13+6 weeks of gestation. Methods： From January 2019 to January 2020， 200 pregnant women who underwent prenatal screening during 11-13+6 weeks of gestation were selected as the research objects， and their clinical significance was explored through prenatal screening. Results： Among 200 pregnant women， 2 cases were screened by prenatal screening at 11-13+6 weeks gestation， accounting for 1.0%. 2 cases were exposed to brain and had no brain， accounting for 1.0%; 3 cases had abnormal limbs， accounting for 1.5%; 2 cases had whole forebrain， accounting for 1.0%; 2 cases of conjoined twins， accounting for 1.0%; One patient had a single cavity heart， accounting for 0.5%， and the screening accuracy rate was 92.30%（12/13）. Among 200 pregnant women， 187 pregnant women belong to normal and healthy fetuses， and 13 of them have serious structural abnormalities; 13 fetuses were induced by labor， of which 2 cases were split abdomen， accounting for 1.0%; 2 cases were exposed to brain and had no brain， accounting for 1.0%; 3 cases had abnormal limbs， accounting for 1.5%; 2 cases had whole forebrain， accounting for 1.0%; 2 cases of conjoined twins， accounting for 1.0%; 1 case had single cavity heart， accounting for 0.5%， and 1 case had open spina bifida， accounting for 0.5%. Conclusion： Fetal screening before 11-13+6 weeks of pregnancy can find out the serious structural malformation of fetus in time， which can not only provide important genetic information， but also take remedial measures as soon as possible， improve the rate of eugenics， relieve the pain of pregnant women and improve social pressure.

Key words： Pregnancy 11-13+6 weeks; Prenatal screening; Severe structural malformation of fetus; Clinical significance

对于女性而言，妊娠分娩过程是一个艰辛且幸福的过程。在妊娠中期，孕妇需要进行产检，筛查胎儿是否存在畸形。传统的超声筛查是在孕妇妊娠18-24周进行，其主要目的在于排除胎儿畸形;随着科学技术的发展，目前临床上对于胎儿畸形的筛查提前至孕11-13+6周。这期间可以从胎儿的形态学角度观察胎儿的生理结构以及活动状况，直接测量各种参数，以及时评估胎儿是否存在严重的结构异常[1-3]。孕11-13+6周与各种染色体之间存在密切联系，通过超声筛查，能够预测胎儿是否存在严重畸形，从而尽早采取措施，提升优生优育率[4-5]。……