Vanstone Meredith, Cernat Alexandra, Majid Umair, Trivedi Forum, De Freitas Chanté
Department of Family Medicine, McMaster University, Hamilton, Ontario
Centre for Health Economic and Policy Analysis, McMaster University, Hamilton, Ontario
Ont Health Technol Assess Ser. 2019 Feb 19;19(5):1-38. eCollection 2019.
Pregnant people have a risk of carrying a fetus affected by a chromosomal anomaly. Prenatal screening is offered to pregnant people to assess their risk. In recent years, noninvasive prenatal testing (NIPT) has been introduced clinically, which uses the presence of circulating cell-free fetal DNA in the maternal blood to quantify the risk of a chromosomal anomaly. At present, NIPT is publicly funded for pregnancies at high risk of a chromosomal anomaly, and available to pregnant people at average risk if they choose to pay out of pocket.
We performed a systematic review of primary, empirical qualitative research that describes the experiences and perspectives of pregnant people, their families, clinicians, and others with lived experience relevant to NIPT. We were interested in the beliefs, experiences, preferences, and perspectives of these groups. We analyzed the evidence available in 36 qualitative and mixed-methods studies using the integrative technique of qualitative meta-synthesis.
Most people (pregnant people, clinicians, and others with relevant lived experience) said that NIPT offered important information to pregnant people and their partners. Most people were very enthusiastic about widening access to NIPT because it can provide information about chromosomal anomalies quite early in pregnancy, with relatively high accuracy, and without risk of procedure-related pregnancy loss. However, many groups cautioned that widening access to NIPT may result in routinization of this test, causing potential harm to pregnant people, their families, the health care system, people living with disabilities, and society as a whole. Widened logistical, financial, emotional, and informational access may be perceived as a benefit, but it can also confer harm on various groups. Many of these challenges echo historical critiques of other forms of prenatal testing, with some issues mitigated or exacerbated by the particular features of NIPT.
Noninvasive prenatal testing offers significant benefit for pregnant people but may also be associated with potential harms related to informed decision-making, inequitable use, social pressure to test, and reduced support for people with disabilities.
孕妇有生育受染色体异常影响胎儿的风险。为孕妇提供产前筛查以评估其风险。近年来，无创产前检测（NIPT）已临床应用，它利用母体血液中循环游离胎儿DNA的存在来量化染色体异常的风险。目前，对于有染色体异常高风险的妊娠，NIPT由公共资金资助；如果平均风险的孕妇选择自掏腰包，也可进行检测。
我们对描述孕妇、其家人、临床医生及其他有与NIPT相关实际经验者的经历和观点的原发性实证定性研究进行了系统综述。我们关注这些群体的信念、经历、偏好和观点。我们使用定性元综合的整合技术分析了36项定性和混合方法研究中的现有证据。
大多数人（孕妇、临床医生及其他有相关实际经验者）表示，NIPT为孕妇及其伴侣提供了重要信息。大多数人对扩大NIPT的可及性非常热情，因为它能在妊娠早期相当早地提供有关染色体异常的信息，准确性相对较高，且没有与检测相关的妊娠丢失风险。然而，许多群体告诫说，扩大NIPT的可及性可能导致该检测常规化，对孕妇、其家人、医疗保健系统、残疾人和整个社会造成潜在危害。后勤、财务、情感和信息获取的扩大可能被视为一种益处，但也可能对各群体造成伤害。其中许多挑战呼应了对其他形式产前检测的历史批评，一些问题因NIPT的特殊特征而得到缓解或加剧。
无创产前检测对孕妇有显著益处，但也可能与知情决策、不公平使用、检测的社会压力以及对残疾人支持减少等潜在危害相关。
