Evidence of compliance with and effectiveness of guidelines for noninvasive prenatal testing in China: a retrospective study of 189,809 cases
- 7 Downloads
In China, the medical guidelines recommend performing noninvasive prenatal testing (NIPT) with caution for pregnant women aged 35 years or older. However, the Mother and Child Health Care Law suggests that all primiparous women whose age is older than 35 years undergo prenatal diagnosis. These two inconsistent suggestions/recommendations have made obstetricians confused about whether to offer NIPT to these older pregnant women. To face this issue and find out the solution we performed a retrospective study of 189,809 NIPT samples collected from 28 provincial-leveled administrative units in China. Of 1,564 women with high-risk pregnancies who underwent NIPT, 459 (29.3%) did not participate in follow-up. The compound sensitivity and specificity of NIPT for trisomies 21, 18 and 13 detection was 99.1% (95% CI, 98.0%–99.6%) and 99.9% (95% CI, 98.8%–99.9%), respectively. In secundiparous women, NIPT showed high sensitivity and specificity similar to that in primiparous women. The observed risk for trisomies 21 and 18 significantly increased when the maternal age was 39 and older. After the publication of the current NIPT policy, the follow-up rate at our center was 91.9%; however, a large number of women are not in maternal and infant care networks nationwide, and that makes the follow-up rate outside our center relatively low. Our study shows that to balance the prevention of major aneuploidies and the limited resources for prenatal diagnosis, the cut-off age of 35 for invasive prenatal diagnosis might be unnecessary. Although the NIPT guidelines are well written, how to practice it effectively, especially in less industrialized areas, is worth discussing.
KeywordsNIPT risk for trisomy NIPT policy in China prenatal diagnosis maternal age
Unable to display preview. Download preview PDF.
This work was supported by grants from the National Key Technology R&D Program (2015BAI13B06).
- Benn, P., Borrell, A., Cuckle, H., Dugoff, L., Gross, S., Johnson, J.A., Maymon, R., Odibo, A., Schielen, P., Spencer, K., et al. (2012). Prenatal detection of Down Syndrome using Massively Parallel Sequencing (MPS): a rapid response statement from a committee on behalf of the Board of the International Society for Prenatal Diagnosis, 24 October 2011. Prenat Diagn 32, 1–2.CrossRefGoogle Scholar
- Chiu, R.W.K., Chan, K.C.A., Gao, Y., Lau, V.Y.M., Zheng, W., Leung, T.Y., Foo, C.H.F., Xie, B., Tsui, N.B.Y., Lun, F.M.F., et al. (2008). Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma. Proc Natl Acad Sci USA 105, 20458–20463.CrossRefGoogle Scholar
- Franasiak, J.M., Forman, E.J., Hong, K.H., Werner, M.D., Upham, K.M., Treff, N.R., and Scott Jr., R.T. (2014). The nature of aneuploidy with increasing age of the female partner: a review of 15,169 consecutive trophectoderm biopsies evaluated with comprehensive chromosomal screening. Fertil Steril 101, 656–663.e1.CrossRefGoogle Scholar
- General Office of the State Council. (2001). Measures for Implementation of the Law of the People’s Republic of China on Maternal and Infant Care.Google Scholar
- Gregg, A.R., Skotko, B.G., Benkendorf, J.L., Monaghan, K.G., Bajaj, K., Best, R.G., Klugman, S., and Watson, M.S. (2016). Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics. Genet Med 18, 1056–1065.CrossRefGoogle Scholar
- Lun, F.M.F., Tsui, N.B.Y., Chan, K.C.A., Leung, T.Y., Lau, T.K., Charoenkwan, P., Chow, K.C.K., Lo, W.Y.W., Wanapirak, C., Sanguansermsri, T., et al. (2008). Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasma. Proc Natl Acad Sci USA 105, 19920–19925.CrossRefGoogle Scholar
- NHFPC. (2016). Technical guidelines for cell-free DNA testing for prenatal screening and diagnosis.Google Scholar
- Yamada, T., Sekizawa, A., Fujii, Y., Hirose, T., Samura, O., Suzumori, N., Miura, K., Sawai, H., Hirahara, F., Murotsuki, J., et al. (2018). Maternal age-specific risk for trisomy 21 based on the clinical performance of NIPT and empirically derived NIPT age-specific positive and negative predictive values in Japan. J Hum Genet 63, 1035–1040.CrossRefGoogle Scholar