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Evidence of compliance with and effectiveness of guidelines for noninvasive prenatal testing in China: a retrospective study of 189,809 cases

  • Chan Tian
  • Tao Deng
  • Xiuhuang Zhu
  • Chen Gong
  • Yangyu Zhao
  • Yuan Wei
  • Rong Li
  • Xiufeng Xu
  • Miaonan He
  • Zhiwei Zhang
  • Jing Cheng
  • Mol BenWillem
  • Jie QiaoEmail author
Research Paper
  • 7 Downloads

Abstract

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.

Keywords

NIPT risk for trisomy NIPT policy in China prenatal diagnosis maternal age 

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Notes

Acknowledgements

This work was supported by grants from the National Key Technology R&D Program (2015BAI13B06).

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References

  1. ACOG. (2015). Committee Opinion No. 640: cell-free dna screening for fetal aneuploidy. Obstet Gynecol 126, e31–37.CrossRefGoogle Scholar
  2. ACOG. (2016). Practice Bulletin No. 162: Prenatal diagnostic testing for genetic disorders. Obstet Gynecol 127, e108–122.CrossRefGoogle Scholar
  3. 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
  4. 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
  5. Devers, P.L., Cronister, A., Ormond, K.E., Facio, F., Brasington, C.K., and Flodman, P. (2013). Noninvasive prenatal testing/noninvasive prenatal diagnosis: the position of the National Society of Genetic Counselors. J Genet Counsel 22, 291–295.CrossRefGoogle Scholar
  6. Dobson, L.J., Reiff, E.S., Little, S.E., Wilkins-Haug, L., and Bromley, B. (2016). Patient choice and clinical outcomes following positive noninvasive prenatal screening for aneuploidy with cell-free DNA (cfDNA). Prenat Diagn 36, 456–462.CrossRefGoogle Scholar
  7. Fan, H.C., Blumenfeld, Y.J., Chitkara, U., Hudgins, L., and Quake, S.R. (2008). Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proc Natl Acad Sci USA 105, 16266–16271.CrossRefGoogle Scholar
  8. 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
  9. 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
  10. Gil, M.M., Accurti, V., Santacruz, B., Plana, M.N., and Nicolaides, K.H. (2017). Analysis of cell-free DNA in maternal blood in screening for aneuploidies: updated meta-analysis. Ultrasound Obstet Gynecol 50, 302–314.CrossRefGoogle Scholar
  11. 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
  12. Hu, H., Liu, H., Peng, C., Deng, T., Fu, X., Chung, C., Zhang, E., Lu, C., Zhang, K., Liang, Z., et al. (2016). Clinical experience of non-invasive prenatal chromosomal aneuploidy testing in 190,277 patient samples. Cur Mol Med 16, 759–766.CrossRefGoogle Scholar
  13. Li, H.T., Xue, M., Hellerstein, S., Cai, Y., Gao, Y., Zhang, Y., Qiao, J., Blustein, J., and Liu, J.M. (2019). Association of China’s universal two child policy with changes in births and birth related health factors: national, descriptive comparative study. BMJ 40, l4680.CrossRefGoogle Scholar
  14. Liao, C., Yin, A., Peng, C., Fu, F., Yang, J., Li, R., Chen, Y., Luo, D., Zhang, Y., Ou, Y., et al. (2014). Noninvasive prenatal diagnosis of common aneuploidies by semiconductor sequencing. Proc Natl Acad Sci USA 111, 7415–7420.CrossRefGoogle Scholar
  15. Lo, Y.M.D., Lun, F.M.F., Chan, K.C.A., Tsui, N.B.Y., Chong, K.C., Lau, T. K., Leung, T.Y., Zee, B.C.Y., Cantor, C.R., and Chiu, R.W.K. (2007). Digital PCR for the molecular detection of fetal chromosomal aneuploidy. Proc Natl Acad Sci USA 104, 13116–13121.CrossRefGoogle Scholar
  16. 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
  17. Newberger, D.S. (2000). Down syndrome: prenatal risk assessment and diagnosis. Am Fam Physician 62, 825–832, 837–838.PubMedGoogle Scholar
  18. NHFPC. (2016). Technical guidelines for cell-free DNA testing for prenatal screening and diagnosis.Google Scholar
  19. Norton, M.E., Jacobsson, B., Swamy, G.K., Laurent, L.C., Ranzini, A.C., Brar, H., Tomlinson, M.W., Pereira, L., Spitz, J.L., Hollemon, D., et al. (2015). Cell-free DNA analysis for noninvasive examination of trisomy. N Engl J Med 372, 1589–1597.CrossRefGoogle Scholar
  20. Snyder, H.L., Curnow, K.J., Bhatt, S., and Bianchi, D.W. (2016). Follow-up of multiple aneuploidies and single monosomies detected by noninvasive prenatal testing: implications for management and counseling. Prenat Diagn 36, 203–209.CrossRefGoogle Scholar
  21. van der Meulen, J.H., Mol, B.W., Pajkrt, E., van Lith, J.M., and Voorn, W. (1999). Use of the disutility ratio in prenatal screening for Down’s syndrome. Br J Obstet Gynaecol 106, 108–115.CrossRefGoogle Scholar
  22. Warsof, S.L., Larion, S., and Abuhamad, A.Z. (2015). Overview of the impact of noninvasive prenatal testing on diagnostic procedures. Prenat Diagn 35, 972–979.CrossRefGoogle Scholar
  23. 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
  24. Yin, A., Peng, C., Zhao, X., Caughey, B.A., Yang, J., Liu, J., Huang, W., Liu, C., Luo, D., Liu, H., et al. (2015). Noninvasive detection of fetal subchromosomal abnormalities by semiconductor sequencing of maternal plasma DNA. Proc Natl Acad Sci USA 112, 14670–14675.CrossRefGoogle Scholar
  25. Zhang, H., Gao, Y., Jiang, F., Fu, M., Yuan, Y., Guo, Y., Zhu, Z., Lin, M., Liu, Q., Tian, Z., et al. (2015). Non-invasive prenatal testing for trisomies 21, 18 and 13: clinical experience from 146958 pregnancies. Ultrasound Obstet Gynecol 45, 530–538.CrossRefGoogle Scholar

Copyright information

© Science China Press and Springer-Verlag GmbH Germany, part of Springer Nature 2020

Authors and Affiliations

  • Chan Tian
    • 1
    • 2
    • 3
    • 4
  • Tao Deng
    • 5
  • Xiuhuang Zhu
    • 5
  • Chen Gong
    • 1
    • 2
    • 3
    • 4
  • Yangyu Zhao
    • 6
  • Yuan Wei
    • 6
  • Rong Li
    • 1
    • 2
    • 3
    • 4
  • Xiufeng Xu
    • 5
  • Miaonan He
    • 5
  • Zhiwei Zhang
    • 5
  • Jing Cheng
    • 7
    • 8
  • Mol BenWillem
    • 9
  • Jie Qiao
    • 1
    • 2
    • 3
    • 4
    • 10
    • 11
    Email author
  1. 1.Center for Reproductive Medicine, Department of Obstetrics and GynecologyPeking University Third HospitalBeijingChina
  2. 2.National Clinical Research Center for Obstetrics and GynecologyBeijingChina
  3. 3.Key Laboratory of Assisted Reproduction (Peking University)Ministry of EducationBeijingChina
  4. 4.Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproductive TechnologyBeijingChina
  5. 5.Beijing CapitalBio Medical LaboratoryBeijingChina
  6. 6.Department of Obstetrics and GynecologyPeking University Third HospitalBeijingChina
  7. 7.National Engineering Research Center for Beijing Biochip TechnologyBeijingChina
  8. 8.Department of Biomedical EngineeringTsinghua University School of MedicineBeijingChina
  9. 9.Robinson Institute, School of Paediatrics and Reproductive HealthUniversity of AdelaideAdelaideAustralia
  10. 10.Beijing Advanced Innovation Center for GenomicBeijingChina
  11. 11.Peking-Tsinghua Center for Life SciencesPeking UniversityBeijingChina

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