Center for Human Genetics, University Hospitals Leuven-KU Leuven, Leuven, Belgium.
Department of Obstetrics and Gynaecology, University Hospitals Leuven, Leuven, Belgium.
Genet Med. 2021 Jun;23(6):1137-1142. doi: 10.1038/s41436-021-01101-4. Epub 2021 Feb 9.
Noninvasive prenatal screening (NIPS) using cell-free DNA has transformed prenatal care. Belgium was the first country to implement and fully reimburse NIPS as a first-tier screening test offered to all pregnant women. A consortium consisting of all Belgian genetic centers report the outcome of two years genome-wide NIPS implementation.
The performance for the common trisomies and for secondary findings was evaluated based on 153,575 genome-wide NIP tests. Furthermore, the evolution of the number of invasive tests and the incidence of Down syndrome live births was registered.
Trisomies 21, 18, and 13 were detected in respectively 0.32%, 0.07%, and 0.06% of cases, with overall positive predictive values (PPVs) of 92.4%, 84.6%, and 43.9%. Rare autosomal trisomies and fetal segmental imbalances were detected in respectively 0.23% and 0.07% of cases with PPVs of 4.1% and 47%. The number of invasive obstetric procedures decreased by 52%. The number of trisomy 21 live births dropped to 0.04%.
Expanding the scope of NIPS beyond trisomy 21 fetal screening allows the implementation of personalized genomic medicine for the obstetric population. This genome-wide NIPS approach has been embedded successfully in prenatal genetic care in Belgium and might serve as a framework for other countries offering NIPS.
利用游离 DNA 的非侵入性产前筛查 (NIPS) 改变了产前护理模式。比利时是第一个实施并全额报销 NIPS 的国家，将其作为向所有孕妇提供的一线筛查检测。由所有比利时遗传中心组成的联盟报告了实施两年全基因组 NIPS 的结果。
根据 153575 例全基因组 NIP 检测，评估了常见三体和次要检测结果的性能。此外，还记录了侵袭性检测数量的演变和唐氏综合征活产儿的发病率。
21 三体、18 三体和 13 三体的检出率分别为 0.32%、0.07%和 0.06%，总体阳性预测值（PPV）分别为 92.4%、84.6%和 43.9%。罕见的常染色体三体和胎儿节段性失衡的检出率分别为 0.23%和 0.07%，PPV 分别为 4.1%和 47%。侵入性产科程序的数量减少了 52%。唐氏综合征活产儿的数量降至 0.04%。
将 NIPS 的范围扩大到 21 三体胎儿筛查之外，允许为产科人群实施个性化基因组医学。这种全基因组 NIPS 方法已成功纳入比利时产前遗传护理，并可能为其他提供 NIPS 的国家提供框架。
