A study on non-invasive prenatal screening for the detection of aneuploidy
Abstract
Objectives: To explore the feasibility of clinical application of non-invasive prenatal screening to detect aneuploidy diseases. Material and methods: A total of 14,574 singleton pregnant women who underwent Non-invasive prenatal testing (NIPT) in the Southern Hospital from 2015 to June 2017 were selected, and 6471 pregnant women with twin pregnancy who underwent NIPT in the laboratory of Bei Rui He Kang Southern Hospital from June 2016 to October 2017 were included in this study. We analyzed NIPT screening efficiency (sensitivity, specificity) in twin pregnancies and singleton pregnancies, compared the positive detection rate of NIPT in patients with or without clinical symptoms. All NIPT high-risk results were validated by karyotyping, which were further verified by the follow-up physical examination of the neonatal. Results: A total of 68 cases of twin pregnancy abnormalities were detected by NIPT, including 18 cases of trisomy 21, 6 cases of trisomy 18, 1 case of trisomy 13, 39 cases of Spinocerebellar ataxias (SCAs), and 4 cases of other chromosomal abnormalities. The sensitivity for trisomy 21, 18, and 13 and sex chromosome abnormality was 100%; the specificity for trisomy 21, 18, and 13 and sex chromosome abnormality was 99.97%, 99.95%, 99.97%, and 99.91% respectively. The screening efficiency was similar to that of singleton pregnancy, indicating that the NIPT technology in our laboratory for screening for aneuploidy diseases in twin pregnancy has reached the accuracy level of singleton pregnancy screening. There was a statistical difference between the risk group and the non-risk group in pregnant women with singleton pregnancy. The screening efficiency of NIPT was higher in pregnant women in the risk group, which implies that the clinical application of NIPT is inclined to detect high-risk group. Conclusions: Non-invasive prenatal testing (NIPT) is a rapid and safe screening method with high efficiency. Non-invasive prenatal testing (NIPT) is used for the screening of aneuploidy in twin pregnancy. The efficiency is similar to that of singleton pregnancy, indicating the feasibility of clinical application. However, the efficiency of NIPT screening tends to favor the detection in high-risk groups.
Keywords: twin pregnancynon-invasive prenatal test (NIPT)chromosomal aneuploidy
References
- Tan Y, Gao Ya, Lin Ge, et al. Noninvasive prenatal testing (NIPT) in twin pregnancies with treatment of assisted reproductive techniques (ART) in a single center. Prenat Diagn. 2016; 36(7): 672–679.
- Spencer K, Nicolaides K. Screening for trisomy 21 in twins using first trimester ultrasound and maternal serum biochemistry in a one-stop clinic: a review of three years experience. BJOG: An International Journal of Obstetrics and Gynaecology. 2003; 110(3): 276–280.
- Zhang H, Gao Y, Jiang F, et al. Non-invasive prenatal testing for trisomies 21, 18 and 13: clinical experience from 146,958 pregnancies. Ultrasound Obstet Gynecol. 2015; 45(5): 530–538.
- Wang JY, Chen M, Wu L, et al. Application of non-invasive prenatal genetic testing for twins 21, 18 and 13-trisomy syndrome[J]. Chin J od Pract Gyn and Obs. 2017; 05: 497–501.
- Committee Opinion No. 640: Cell-Free DNA Screening For Fetal Aneuploidy. Obstet Gynecol. 2015; 126(3): e31–e37.
- Salomon LJ, Alfirevic Z, Audibert F, et al. ISUOG Clinical Standards Committee. ISUOG consensus statement on the impact of non-invasive prenatal testing (NIPT) on prenatal ultrasound practice . Z Geburtshilfe Neonatol. 2014; 2018(6): 242–243.
- Practice Bulletin No. 162 Summary: Prenatal Diagnostic Testing for Genetic Disorders. Obstet Gynecol. 2016; 127(5): 976–978.
- Gil MM, Quezada MS, Revello R, et al. Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis. Ultrasound Obstet Gynecol. 2015; 45(3): 249–266.
- Liao H, Liu S, Wang He. Performance of non-invasive prenatal screening for fetal aneuploidy in twin pregnancies: a meta-analysis. Prenat Diagn. 2017; 37(9): 874–882.
- Prats P, Rodríguez I, Comas C, et al. Systematic review of screening for trisomy 21 in twin pregnancies in first trimester combining nuchal translucency and biochemical markers: a meta-analysis. Prenat Diagn. 2014; 34(11): 1077–1083.
- Prats P, Rodríguez I, Comas C, et al. Analysis of three different strategies in prenatal screening for Down's syndrome in twin pregnancies. J Matern Fetal Neonatal Med. 2013; 26(14): 1404–1409.
- Sun LM, Zhao YY, Duan T. Interpretation of the Chinese Medical Association "Guidelines for Clinical Management of Twin Pregnancy (Part One): Pregnancy Monitoring and Management of Twin Pregnancy "[J]. Chin J od Pract Gyn and Obs. 2015; 2016(04): 291–297.
- Audibert F, Gagnon A. No. 262-Prenatal Screening for and Diagnosis of Aneuploidy in Twin Pregnancies. J Obstet Gynaecol Can. 2017; 39(9): e347–e361.
- Chiu RWK, Akolekar R, Zheng YWL, et al. Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study. BMJ. 2011; 342: c7401.
- Sarno L, Revello R, Hanson E, et al. Prospective first-trimester screening for trisomies by cell-free DNA testing of maternal blood in twin pregnancy. Ultrasound Obstet Gynecol. 2016; 47(6): 705–711.
- Leung TY, Qu JZZ, Liao GJW, et al. Noninvasive twin zygosity assessment and aneuploidy detection by maternal plasma DNA sequencing. Prenat Diagn. 2013; 33(7): 675–681.
- Zhang B, Lu BY, Yu B, et al. Noninvasive prenatal screening for fetal common sex chromosome aneuploidies from maternal blood. J Int Med Res. 2017; 45(2): 621–630.
- Benn P, Borrell A, Chiu RWK, et al. Position statement from the Chromosome Abnormality Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis. Prenat Diagn. 2015; 35(8): 725–734.
- Lau TK, Jiang FuM, Stevenson RJ, et al. Secondary findings from non-invasive prenatal testing for common fetal aneuploidies by whole genome sequencing as a clinical service. Prenat Diagn. 2013; 33(6): 602–608.
