延边大学医学学报

目的:研究无创产前筛查技术(NIPT)在21三体(T21)、18三体(T18)、13三体(T13)以外的其他染色体异常中的临床筛查价值。方法:选取2022年于厦门大学附属第一医院产前诊断门诊行NIPT及产前诊断孕妇,排除T21、T18、T13高风险病例后,对其余64例其他染色体异常病例展开研究,并于其分娩后进行电话随访,记录妊娠结局。将数据分组,统计各种染色体异常的检出率和阳性预测值。结果:在64例其他染色体异常孕妇中,性染色体偏多、其他常染色体偏多、性染色体偏少的阳性预测值分别为100.00%、33.33%、50.00%;染色体微缺失、微重复及其他常染色体三体的阳性预测值分别为25.00%、12.50%和15.79%。NIPT对于其他染色体异常的复合阳性预测值为48.43%。结论:NIPT作为妇产科产前筛查的重要手段,在孕妇产检时常规开展,可以降低出生缺陷率,提高优生优育率。

Objective: To explore the clinical screening value of non-invasive prenatal testing(NIPT) for chromosomal abnormalities beyond trisomy 21(T21), trisomy 18(T18), and trisomy 13(T13). Methods: Pregnant women who underwent NIPT and prenatal diagnosis at the Prenatal Diagnosis Clinic of The First Affiliated Hospital of Xiamen University in 2022 were selected. After excluding high-risk cases of T21, T18, and T13, 64 cases with other chromosomal abnormalities were analyzed. Telephone follow-ups were conducted post-delivery to record pregnancy outcomes. Data were grouped to calculate the detection rates and positive predictive values(PPV) for various chromosomal abnormalities. Results: Among 64 pregnant women with other chromosomal abnormalities, the positive predictive values for trisomy of sex chromosomes, autosomes, and autosomes were 100.00%,33.33%, and 50.00%, respectively. The positive predictive values for microdeletions, microrepetitions, and trisomies of autosomes were 25.00%,12.50%, and 15.79%, respectively. The composite PPV of NIPT for other chromosomal abnormalities was 48.43%. Conclusion: As a critical tool in prenatal screening, routine NIPT during prenatal examinations can reduce birth defect rates and improve eugenic outcomes.