Department of Prenatal Diagnosis and Screening Center, Hangzhou Women's Hospital (Hangzhou Maternity and Child Health Care Hospital), Hangzhou, Zhejiang.
Department of the Fourth Clinical Medical College, Zhejiang Chinese Medical University, Hangzhou, Zhejiang.
PLoS One. 2023 Feb 21;18(2):e0281201. doi: 10.1371/journal.pone.0281201. eCollection 2023.
To determine the efficacy of three different maternal screening programs (first-trimester screening [FTS], individual second-trimester screening [ISTS], and first- and second-trimester combined screening [FSTCS]) in predicting offspring with trisomy 21, trisomy 18, and neural tube defects (NTDs).
A retrospective cohort involving 108,118 pregnant women who received prenatal screening tests during the first (9-13+6 weeks) and second trimester (15-20+6 weeks) in Hangzhou, China from January-December 2019, as follows: FTS, 72,096; ISTS, 36,022; and FSTCS, 67,631 gravidas.
The high and intermediate risk positivity rates for trisomy 21 screening with FSTCS (2.40% and 5.57%) were lower than ISTS (9.02% and 16.14%) and FTS (2.71% and 7.19%); there were statistically significant differences in the positivity rates among the screening programs (all P < 0.05). Detection of trisomy 21 was as follows: ISTS, 68.75%; FSTCS, 63.64%; and FTS, 48.57%. Detection of trisomy 18 was as follows; FTS and FSTCS, 66.67%; and ISTS, 60.00%. There were no statistical differences in the detection rates for trisomy 21 and 18 among the 3 screening programs (all P > 0.05). The positive predictive values (PPVs) for trisomy 21 and 18 were highest with FTS, while the false positive rate (FPR) was lowest with FSTCS.
FSTCS was superior to FTS and ISTS screening and substantially reduced the number of high risk pregnancies for trisomy 21 and 18; however, FSTCS was not significantly different in detecting fetal trisomy 21 and 18 and other confirmed cases with chromosomal abnormalities.
评估三种不同的孕妇筛查方案（早孕期筛查[FTS]、个体中孕期筛查[ISTS]和早、中孕期联合筛查[FSTCS]）在预测 21 三体、18 三体和神经管缺陷（NTDs）患儿方面的效果。
本回顾性队列研究纳入了 2019 年 1 月至 12 月在中国杭州进行的 108118 例孕妇的产前筛查，分为早孕期（9-13+6 周）和中孕期（15-20+6 周）筛查：FTS 组 72096 例，ISTS 组 36022 例，FSTCS 组 67631 例。
FSTCS 组的 21 三体高风险和中风险阳性率（2.40%和 5.57%）低于 ISTS 组（9.02%和 16.14%）和 FTS 组（2.71%和 7.19%），不同筛查方案的阳性率差异有统计学意义（均 P < 0.05）。21 三体的检出率如下：ISTS 组 68.75%，FSTCS 组 63.64%，FTS 组 48.57%。18 三体的检出率如下：FTS 组和 FSTCS 组均为 66.67%，ISTS 组为 60.00%。三种筛查方案对 21 三体和 18 三体的检出率差异均无统计学意义（均 P > 0.05）。FTS 方案对 21 三体和 18 三体的阳性预测值最高，FSTCS 方案的假阳性率最低。
FSTCS 筛查优于 FTS 和 ISTS 筛查，显著减少了 21 三体和 18 三体高危妊娠的数量；但在检测胎儿 21 三体和 18 三体以及其他染色体异常确诊病例方面，FSTCS 与其他两种方案无显著差异。
