Department of Genetic Eugenics, Changsha Hospital for Maternal & Child Health Care Affiliated to Hunan Normal University, Changsha Hunan, China.
Department of Otolaryngology Heard and Neck Surgery, Xiangya Hospital, Central South University, Changsha Hunan, China.
Expert Rev Mol Diagn. 2022 Mar;22(3):387-394. doi: 10.1080/14737159.2022.2049245. Epub 2022 Mar 9.
To explore the pregnancy outcomes of women who couldn't obtain effective results from noninvasive prenatal testing (NIPT) and examine the factors leading to test failure.
From April 2017 to December 2019, 120,041 pregnant women enrolled for voluntary NIPT. The case group comprised of 274 (274/120,041) women who failed to obtain effective NIPT results, and the control group ( = 540) was from the same population who obtained effective NIPT results and matched by age at a 1:2 ratio. Abnormal pregnancy rates between the two groups were analyzed using Chi-square analysis. NIPT failure risk factors were analyzed using logistic regression analysis.
Logistic regression analysis showed that increased maternal age (OR = 0.988; 95% CI = 0.982-0.994), increased pregnancy age (OR = 0.989; 95%CI = 0.988-0.991), and decreased cell-free fetal DNA concentration (OR = 1.050; 95%CI = 1.043-1.058) were independent risk factors for NIPT failure. Fifteen cases showed fetus loss in cases of NIPT failure. There was a significant difference in abnormal pregnancy rate between the NIPT success and failure groups (χ2 = 50.943, P < 0.05).
The specific interventions, guidance, and precautions are needed for pregnant women who have no effective NIPT results.
探讨无法从无创产前检测(NIPT)中获得有效结果的女性的妊娠结局,并研究导致检测失败的因素。
2017 年 4 月至 2019 年 12 月,共有 120041 名孕妇自愿接受 NIPT。病例组由 274 名(274/120041)未能获得有效 NIPT 结果的孕妇组成,对照组(n=540)来自同一人群,年龄与病例组按 1:2 比例匹配。采用卡方检验分析两组的异常妊娠率。采用 logistic 回归分析 NIPT 失败的危险因素。
logistic 回归分析显示,母亲年龄增加(OR=0.988;95%CI=0.982-0.994)、妊娠年龄增加(OR=0.989;95%CI=0.988-0.991)和游离胎儿 DNA 浓度降低(OR=1.050;95%CI=1.043-1.058)是 NIPT 失败的独立危险因素。在 NIPT 失败的情况下,有 15 例出现胎儿丢失。NIPT 成功组和失败组的异常妊娠率差异有统计学意义(χ2=50.943,P<0.05)。
对于未获得有效 NIPT 结果的孕妇,需要具体的干预、指导和预防措施。