Obstetrics and Gynecology Hospital, Institute of Reproduction and Development, Fudan University, Shanghai, China.
Beijing BioBiggen Technology Co, Beijing, China.
BMJ Open. 2021 Aug 27;11(8):e053617. doi: 10.1136/bmjopen-2021-053617.
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.
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.
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.
ChiCTR2100045739.
染色体异常和单基因疾病约占可识别出生缺陷的 15%-25%。由于治疗选择有限，因此开发了孕前和产前筛查以降低此类疾病的发生率。目前，全球范围内都在实施针对常见非整倍体的无创性产前筛查（NIPS），其优于传统的血清学或超声筛查方法。然而，针对常见染色体片段拷贝数变异和单基因疾病的筛查的临床有效性仍有待证明。
这是一项多中心、前瞻性研究。从 2021 年 4 月 10 日开始，参与者从中国的三家三级医院招募。预计该研究将于 2022 年 10 月 10 日之前结束。将对具有异常产前筛查结果（提示需要进行有创性产前诊断）的孕妇，或因超声异常而决定终止妊娠的孕妇进行评估，以确定是否符合纳入标准。将从母体血浆中提取游离 DNA 用于分析验证的全面 NIPS 测试，该测试由北京贝瑞和康生物技术有限公司（中国北京）开发。将收集产前或产后标本的诊断结果以及妊娠结局数据，以检验该测试的临床灵敏度、特异性、阳性和阴性预测值。
本研究已获得复旦大学妇产科医院的批准（2020-178）。研究结果将通过科学会议和同行评议期刊向公众传播。将从参与者处获得书面知情同意书。
ChiCTR2100045739。
