1. Performance of noninvasive prenatal screening in twin pregnancies: a retrospective study of 5469 twin pregnancies
- Author
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Sha Liu, Daiwen Han, Xiaosha Jing, Jianlong Liu, Wei Luo, Qian Zhu, Jing Cheng, Hongqian Liu, Xiang Wei, Yuan Luo, Yunyun Liu, Cechuan Deng, Zhunduo Li, Bin He, Quanfang Zhou, Ting Bai, Lingling Xing, and Tianyu Xia
- Subjects
medicine.medical_specialty ,Noninvasive Prenatal Testing ,Aneuploidy ,Trisomy ,03 medical and health sciences ,0302 clinical medicine ,Pregnancy ,Prenatal Diagnosis ,Humans ,Medicine ,030212 general & internal medicine ,Sex Chromosome Aberrations ,Twin Pregnancy ,Retrospective Studies ,Fetus ,030219 obstetrics & reproductive medicine ,business.industry ,Obstetrics ,Clinical performance ,Obstetrics and Gynecology ,Retrospective cohort study ,medicine.disease ,Prenatal screening ,Cell-free fetal DNA ,Pediatrics, Perinatology and Child Health ,Pregnancy, Twin ,Female ,Down Syndrome ,business - Abstract
To evaluate the performance of noninvasive prenatal screening (NIPS) for the fetal common aneuploidy screening in twin pregnancies.The data of 5469 women with twin pregnancies were collected in this retrospective observational study between January 2017 and December 2018. Patients underwent NIPS as first-line screening or after standard serum screening for fetal aneuploidy. The performance of NIPS was examined, and a regression analysis was performed to investigate testing failure in cases of low fetal fraction.In this study, 2231 (40.8%) patients opted for NIPS as the primary prenatal screening test, and 3238 (59.2%) opted for serum screening, including 440 patients who opted for NIPS after serum screening. Among the 2671 pregnancies with available NIPS outcomes, 11 cases of aneuploidy were identified, seven of trisomy 21 and four of sex chromosome aneuploidy (SCA). The sensitivity and specificity for trisomy 21 were 100% (95% CI, 56.1-100.0%) and 100% (95% CI, 99.8-100.0%), respectively. The positive predictive value (PPV) for SCA was 40.0% (95% CI, 13.7-72.6%). No false negatives were found, with a negative predictive value (NPV) of 100% (95% CI, 99.8-100.0%) in total. In 32 pregnancies who failed NIPS test without available NIPS outcomes due to low fetal fraction, the regression analysis demonstrated that increasing BMI and assisted reproductive technology treatment were significant independent predictors.NIPS is a high-performing routine primary prenatal screening test in twin pregnancies, with a high PPV and low false positive rate for detecting trisomy 21. It is also useful to identify common sex chromosome aneuploidies in twin pregnancies, with similar performance to that reported in singleton pregnancy.
- Published
- 2021
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