Genetic Alliance UK, London, UK.
Eur J Hum Genet. 2012 Nov;20(11):1127-33. doi: 10.1038/ejhg.2012.50. Epub 2012 Mar 28.
Prenatal fetal sex determination is clinically indicated for women who are at risk of having a child with a serious genetic disorder affecting a particular sex. Ultrasound has been the traditional method used, but early fetal sex determination using non-invasive prenatal diagnosis (NIPD) can now be performed using cell-free fetal DNA in maternal plasma. The study aim was to assess the views and experiences of service users who had used NIPD for fetal sex determination. In this paper, we report on the perceived benefits and disadvantages. A qualitative approach using semi-structured interviews was used. A total of 44 participants (38 women and 6 partners of participating women) were recruited. Participants' views and experiences of NIPD were overwhelmingly positive. Concerning benefits over traditional methods, three themes emerged: (1) technical aspects of technology; (2) timing; and (3) enhanced decision-making. Practical advantages of NIPD included avoiding miscarriage, and there were a number of psychological advantages associated with timing such as perceived control, early re-engagement, normalization of pregnancy and peace of mind. Participants also valued NIPD as it enabled a stepwise approach to decision-making. A number of disadvantages were discussed including concerns about social sexing and increased bonding at a time in pregnancy when miscarriage risk is high. However, participants felt these were fairly minor in comparison with the advantages of NIPD. Until definitive genetic diagnosis using NIPD is available, NIPD for fetal sex determination is perceived as a good interim measure with a number of notable advantages over traditional methods.
产前胎儿性别鉴定在有风险生育患有特定性别遗传疾病的儿童的妇女中具有临床指征。超声一直是传统的使用方法，但现在可以使用母体血浆中的无细胞胎儿 DNA 进行早期非侵入性产前诊断（NIPD）来进行胎儿性别鉴定。本研究旨在评估使用 NIPD 进行胎儿性别鉴定的服务使用者的看法和经验。在本文中，我们报告了感知到的好处和坏处。采用半结构式访谈的定性方法。共招募了 44 名参与者（38 名女性和 6 名参与女性的伴侣）。参与者对 NIPD 的看法和经验绝大多数是积极的。关于与传统方法相比的好处，出现了三个主题：（1）技术方面的技术；（2）时间；（3）增强决策能力。NIPD 的实际优势包括避免流产，并且在时间方面有一些心理优势，例如感知控制、早期重新参与、妊娠正常化和安心。参与者还重视 NIPD，因为它可以实现逐步决策的方法。讨论了一些缺点，包括对社会性别鉴定的担忧以及在流产风险高的妊娠时期增加的联系。然而，与 NIPD 的优势相比，参与者认为这些缺点相当小。在使用 NIPD 进行明确的遗传诊断之前，NIPD 用于胎儿性别鉴定被认为是一种很好的临时措施，与传统方法相比具有许多显著优势。
