Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Clinical Ethics and Law, Faculty of Medicine, University of Southampton, Southampton, UK.
Prenat Diagn. 2022 May;42(6):762-774. doi: 10.1002/pd.6056. Epub 2021 Oct 22.
Adding rapid exome sequencing (rES) to conventional genetic tests improves the diagnostic yield of pregnancies showing ultrasound abnormalities but also carries a higher chance of unsolicited findings. We evaluated how rES, including pre- and post-test counseling, was experienced by parents investigating its impact on decision-making and experienced levels of anxiety.
A mixed-methods approach was adopted. Participating couples (n = 46) were asked to fill in two surveys (pre-test and post-test counseling) and 11 couples were approached for an additional interview.
All couples accepted the rES test-offer with the most important reason for testing emphasizing their hope of finding an underlying diagnosis that would aid decision-making. The actual impact on decision-making was low, however, since most parents decided to terminate the pregnancy based on the major and multiple fetal ultrasound anomalies and did not wait for their rES results. Anxiety was elevated for most participants and decreased over time.
Major congenital anomalies detected on ultrasound seem to have more impact on prenatal parental decision-making and anxiety then the offer and results of rES. However, the impact of rES on reproductive decision-making and experienced anxiety requires further investigation, especially in pregnancies where less (severe) fetal anomalies are detected on ultrasound.
在常规基因检测中加入快速外显子组测序（rES）可以提高超声异常妊娠的诊断率，但也会增加意外发现的几率。我们评估了 rES（包括检测前和检测后咨询）如何影响父母的决策，并评估其对父母焦虑水平的影响。
采用混合方法。要求参与的夫妇（n=46）填写两份调查问卷（检测前和检测后咨询），并对 11 对夫妇进行了额外的访谈。
所有夫妇都接受了 rES 检测，最主要的原因是他们希望找到一个潜在的诊断，以帮助他们做出决策。然而，rES 对决策的实际影响较低，因为大多数父母基于主要的和多个胎儿超声异常决定终止妊娠，而没有等待 rES 结果。大多数参与者的焦虑程度较高，但随着时间的推移焦虑程度有所下降。
超声检测到的严重先天性异常对产前父母决策和焦虑的影响大于 rES 的检测。然而，rES 对生殖决策和焦虑的影响需要进一步研究，尤其是在超声检测到较少（严重）胎儿异常的情况下。
