Has noninvasive prenatal testing impacted termination of pregnancy and live birth rates of infants with Down syndrome?
Has noninvasive prenatal testing impacted termination of pregnancy and live birth rates of infants with Down syndrome?
复制标题
DOI：
10.1002/pd.5182
复制
发表时间：
2017-12
影响因子：
3
通讯作者：
Chitty LS
中科院分区：
文献类型：
--
作者：
Hill M;Barrett A;Choolani M;Lewis C;Fisher J;Chitty LS
无创产前检测（NIPT）作为一种高度准确的非整倍体筛查测试的实施提出了一些问题，即高摄取率是否会导致更多的妊娠终止和唐氏综合征（DS）儿童的出生减少。本研究的目的是调查NIPT对DS终止妊娠率和活产率的影响。回顾了NIPT后妊娠结局的文献报告。计算了具有DS高风险NIPT结果的女性的终止率。在英国和新加坡进行了两次妊娠结局稽查，其中NIPT表明DS。来自美国、亚洲、欧洲和英国的14项研究被纳入该综述。8项研究报告了DS儿童的活产。与引入NIPT前的终止率相比，NIPT后的终止率保持不变或下降。审计发现，英国43名妇女中有15名和新加坡6名妇女中有2名在高风险NIPT结果后继续怀孕。与历史终止率相比，NIPT检测到DS后的终止率保持不变或降低。在终止妊娠率下降的情况下，对活产率的影响可能微乎其微。需要基于人群的研究来确定真正的影响。无创产前检测（NIPT）已被证明是一种高度准确的DS产前筛查检测，并正在世界各地广泛实施。NIPT的引入增加了DS的产前检测，显著降低了侵入性检测率，但对终止妊娠率和出生时患有DS的儿童数量的影响尚不清楚。 关于这个主题，我们已经知道了什么？ NIPT的引入对DS的终止率有不同的影响，但与引入NIPT之前报告的终止率相比，终止率保持不变或下降，许多父母使用NIPT获取信息，并在结果显示DS风险较高时继续妊娠。这些家庭需要实际和情感上的支持结构。在终止率下降的地方，NIPT可能对DS的活产率影响甚微。为了更准确地评估活产率，需要对人口水平进行监测。 这项研究增加了什么？
Implementation of noninvasive prenatal testing (NIPT) as a highly accurate aneuploidy screening test has raised questions around whether the high uptake may result in more terminations of pregnancies and fewer births of children with Down syndrome (DS). The aim of the study was to investigate the impact of NIPT on termination and live birth rates for DS. Literature reporting pregnancy outcomes following NIPT was reviewed. Termination rates were calculated for women with a high‐risk NIPT result for DS. Two audits of pregnancy outcomes where NIPT indicated DS were conducted in the United Kingdom and Singapore. Fourteen studies from the United States, Asia, Europe, and the United Kingdom were included in the review. Live births of children with DS were reported in 8 studies. Termination rates following NIPT were unchanged or decreased when compared to termination rates prior to the introduction of NIPT. Audits found 15 of 43 women in the United Kingdom and 2 of 6 in Singapore continued pregnancies following a high‐risk NIPT result. Termination rates following the detection of DS by NIPT are unchanged or decreased compared to historical termination rates. Impact on live birth rates may be minimal in settings where termination rates fall. Population‐based studies are required to determine the true impact. Noninvasive prenatal testing (NIPT) has been shown to be a highly accurate prenatal screening test for DS and is being implemented widely throughout the world. Introduction of NIPT has increased the prenatal detection of DS with a significantly reduced invasive testing rate, but the impact on rates of termination of pregnancy and the number of children born with DS is not yet known. WHAT IS ALREADY KNOWN ABOUT THIS TOPIC? Introduction of NIPT has a variable effect on termination rates for DS, but rates have remained unchanged or decreased when compared to termination rates reported prior to the introduction of NIPT, with many parents using NIPT for information and continuing pregnancies when results show a high risk of DS. Practical and emotional support structures are needed for these families. Where termination rates fall NIPT may have a minimal impact on live birth rates for DS. Monitoring at population levels is required for a more accurate assessment of live birth rates. WHAT DOES THIS STUDY ADD?
登录
查看更多内容
DOI：
10.1111/j.1471-0528.2008.01700.x
发表时间：
2008-05-01
影响因子：
5.8
作者：
Boyd, P. A.;DeVigan, C.;Dolk, H.
通讯作者：
Dolk, H.
影响因子：
2
作者：
de Graaf, Gert;Buckley, Frank;Skotko, Brian G.
通讯作者：
Skotko, Brian G.
影响因子：
7.1
作者：
Lau, T. K.;Cheung, S. W.;Choy, K. W.
通讯作者：
Choy, K. W.
影响因子：
3
作者：
Guseh, Stephanie H.;Little, Sarah E.;Wilkins-Haug, Louise E.
通讯作者：
Wilkins-Haug, Louise E.
影响因子：
7.1
作者：
Gil, M. M.;Giunta, G.;Nicolaides, K. H.
通讯作者：
Nicolaides, K. H.