Analysis of Prenatal Serological Screening of 116 Pregnant Women with Trisomy 21 Syndrome Fetus.

IF 0.7 4区医学 Q4 MEDICAL LABORATORY TECHNOLOGY Clinical laboratory Pub Date : 2024-10-01 DOI:10.7754/Clin.Lab.2024.240502

Jian Ran, Yanmei Zhu, Weiqiang Liu, Fengxiang Wei, Yuanyuan Pei

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Abstract

Background: Prenatal serological screening is commonly used to screen for trisomy 21 syndrome (T21); however, it carries a risk of missed detection. In this study, we explored how to reduce missed diagnosis of T21 in serological screening.

Methods: A total of 116 pregnant women with T21 fetuses confirmed by prenatal diagnosis were evaluated. Serological screening and non-invasive prenatal test (NIPT) findings were analyzed.

Results: Twenty-nine T21 fetuses were missed in serological screening; the missed diagnosis rate was 25%, 67.65% of the missed cases were of moderate risk, and 79.31% of the missed pregnant women were under 35 years of age. Nuchal translucency (NT) and the free beta subunit of human chorionic gonadotropin (free-HCGβ) were higher in the detected T21 cases than in the missed T21 cases, while alpha-fetoprotein (AFP) levels were decreased. Forty-eight pregnant women who underwent NIPT in the second trimester were at high-risk for T21.

Conclusions: Prenatal screening should not be ignored in young pregnant women. For serological screening, moderate risk and abnormal single serum markers should also receive greater attention. NIPT can be extended to first-tier screening.

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对 116 名 21 三体综合征胎儿孕妇的产前血清学筛查分析

背景：产前血清学筛查是筛查 21 三体综合征（T21）的常用方法，但存在漏检的风险。在这项研究中，我们探讨了如何在血清学筛查中减少 T21 的漏诊：方法：共对 116 名经产前诊断确诊为 T21 胎儿的孕妇进行了评估。分析了血清学筛查和无创产前检测（NIPT）的结果：结果：29 例 T21 胎儿在血清学筛查中漏诊；漏诊率为 25%，67.65% 的漏诊病例为中度风险，79.31% 的漏诊孕妇年龄在 35 岁以下。检出 T21 的孕妇颈项透明带（NT）和游离人绒毛膜促性腺激素 beta 亚基（游离-HCGβ）高于漏诊的 T21 孕妇，而甲胎蛋白（AFP）水平则有所下降。48名在第二孕期接受NIPT检查的孕妇是T21的高危人群：结论：年轻孕妇不应忽视产前筛查。对于血清学筛查，中度风险和异常的单一血清标记物也应受到更多关注。NIPT 可扩展至一级筛查。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Clinical laboratory 医学-医学实验技术

CiteScore

1.50

自引率

0.00%

发文量

494

审稿时长

3 months

期刊介绍： Clinical Laboratory is an international fully peer-reviewed journal covering all aspects of laboratory medicine and transfusion medicine. In addition to transfusion medicine topics Clinical Laboratory represents submissions concerning tissue transplantation and hematopoietic, cellular and gene therapies. The journal publishes original articles, review articles, posters, short reports, case studies and letters to the editor dealing with 1) the scientific background, implementation and diagnostic significance of laboratory methods employed in hospitals, blood banks and physicians'' offices and with 2) scientific, administrative and clinical aspects of transfusion medicine and 3) in addition to transfusion medicine topics Clinical Laboratory represents submissions concerning tissue transplantation and hematopoietic, cellular and gene therapies.