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. 2021 Aug 27;11(8):e053617.
doi: 10.1136/bmjopen-2021-053617.

Comprehensive non-invasive prenatal screening for pregnancies with elevated risks of genetic disorders: protocol for a prospective, multicentre study

Chenming Xu #  1 , Xiaoqiang Cai #  2 , Songchang Chen #  1 , Qiong Luo  3 , Hui Xi  4 , Dan Zhang  5 , Hua Wang  4 , Yanting Wu  1 , He-Feng Huang  6   3 , Jinglan Zhang  6   2
Affiliations

Comprehensive non-invasive prenatal screening for pregnancies with elevated risks of genetic disorders: protocol for a prospective, multicentre study

Chenming Xu et al. BMJ Open. .

Abstract

Introduction: Chromosomal abnormalities and monogenic disorders account for ~15%-25% of recognisable birth defects. With limited treatment options, preconception and prenatal screening were developed to reduce the incidence of such disorders. Currently, non-invasive prenatal screening (NIPS) for common aneuploidies is implemented worldwide with superiority over conventional serum or sonographic screening approaches. However, the clinical validity for the screening of frequent chromosome segmental copy number variations and monogenic disorders still awaits to be proved.

Methods and analysis: This study is a multicentre, prospective study. The participants were recruited from three tertiary hospitals in China starting from 10 April 2021. The study is expected to conclude before 10 October 2022. Pregnant women with abnormal prenatal screening results indicated for invasive prenatal diagnosis or those who decide to terminate their pregnancies due to abnormal ultrasound findings will be evaluated for enrolment. Cell-free DNA extracted from the maternal plasma will be used for an analytically validated comprehensive NIPS test developed by Beijing BioBiggen Technology Co. (Beijing, China). The diagnostic results from prenatal or postnatal specimens as well as the pregnancy outcome data will be collected to examine the clinical sensitivity, specificity, positive and negative predictive values of the test.

Ethics and dissemination: This study was approved by the Obstetrics and Gynecology Hospital of Fudan University (2020-178). Results of this study will be disseminated to public through scientific conferences and a peer-reviewed journal. Written informed consents will be obtained from participants.

Trial registration number: ChiCTR2100045739.

Keywords: antenatal; preventive medicine; reproductive medicine.

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Conflict of interest statement

Competing interests: XC, JZ are employees or shareholders of Beijing BioBiggen Technology Co. The other authors declare no conflict of interest.

Figures

Figure 1
Figure 1
The diagram for the clinical validation of a comprehensive non-invasive prenatal screening test.
Figure 2
Figure 2
The diagram for the screening result analyses based on different disease types and indications. MMS, microdeletion and microduplication syndromes; NIPS, non-invasive prenatal screening; PPV, positive predictive value; NPV, negative predictive value.
See this image and copyright information in PMC

References

    1. Kancherla V, Oakley GP, Brent RL. Urgent global opportunities to prevent birth defects. Semin Fetal Neonatal Med 2014;19:153–60. 10.1016/j.siny.2013.11.008 - DOI - PubMed
    1. Mai CT, Isenburg JL, Canfield MA, et al. National population-based estimates for major birth defects, 2010-2014. Birth Defects Res 2019;111:1435:1420–35. 10.1002/bdr2.1589 - DOI - PMC - PubMed
    1. Brent RL. Environmental causes of human congenital malformations: the pediatrician’s role in dealing with these complex clinical problems caused by a multiplicity of environmental and genetic factors. Pediatrics 2004;113:957–68. - PubMed
    1. Antonarakis SE. Carrier screening for recessive disorders. Nat Rev Genet 2019;20:549–61. 10.1038/s41576-019-0134-2 - DOI - PubMed
    1. Wapner R, Thom E, Simpson JL, et al. First-trimester screening for trisomies 21 and 18. N Engl J Med Overseas Ed 2003;349:1405–13. 10.1056/NEJMoa025273 - DOI - PubMed

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