孕中期血清学产前筛查在出生缺陷防控中的临床价值

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Abstract Objective To explore the clinical value of prenatal serological screening in the prevention and control of birth defects in women during the middle stage of pregnancy. Methods A total of 19 508 pregnant women who underwent serological prenatal screening in Nanning Maternity and Child Healthcare Hospital from January 2016 to February 2018 were selected as the study objects, the alpha-fetoprotein (AFP), serum chorionic gonadotropin beta (β-HCG) and unconjugated estriol (uE3) were tested by Beckmann-Kurt UniCel DXI 800 automatic chemiluminescence analyzer, and the risk of 21-trisomy syndrome, nerve tube defect (NTD) and 18- trisomy syndrome were analyzed by Tengcheng software combined with gestational weeks (according to the B-ultrasound and last menstrual period), age and weight, the high-risk pregnant women for prenatal diagnosis were screened and followed up. Results Among 19 508 pregnant women, 1651 cases were found to be at high risk of 21-trisomy syndrome, NTD and 18-trisomy syndrome, with a positive rate of 8.46%. Among 1651 high-risk pregnant women who were prenatal diagnosed and followed up, 787 cases were analyzed for prenatal diagnosis, and 726 cases with 21-trisomy syndrome were diagnosed by chromosome karyotype examination, 11 of them were confirmed, the positive coincidence rate was 1.52%; 61 cases with 18-trisomy syndrome were diagnosed by chromosome karyotype analysis, the positive coincidence rate was 4.92%. 433 cases had high risk of neural tube defect, 7 cases were diagnosed by B ultrasonic, and the positive coincidence rate was 1.62%. Among the high-risk pregnant women who did not receive prenatal diagnosis, 12 cases of spontaneous abortion and 16 cases of death from other causes, and the rest were normal infants. The follow-up results of 17 860 screened as low-risk pregnant women at 3 months after birth were all normal infants. There were significant differences in the diagnosis of three diseases, spontaneous abortion and other causes of death between high-risk and low-risk pregnant women (P < 0.01). In the mid-pregnancy serological prenatal screening of 19 508 women, 1618 cases were false positive, the total accuracy rate was 91.71%. Conclusion Serological prenatal screening in the second trisomy of pregnancy can timely detect and hand the adverse pregnancy caused by diseases such as 21-trisomy syndrome, NTD and 18-trisomy syndrome, so as to reduce the birth of children with birth defects, improve the quality of the birth population, and achieve the purpose of eugenics.

Key words： Pregnant metaphase Prenatal screening Birth defects Eugenics 21-trisomy syndrome Nerve tube defect 18- trisomy syndrome

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	TONG Fei HUANG Weitong WANG Zongjie

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TONG Fei HUANG Weitong WANG Zongjie. Clinical value of prenatal serological screening in the prevention and control of birth defects in the middle stage of pregnancy[J]. 中国医药导报, 2019, 16(21): 104-107.

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http://www.yiyaodaobao.com.cn/EN/ OR http://www.yiyaodaobao.com.cn/EN/Y2019/V16/I21/104

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