Braun School of Public Health, Hebrew University of Jerusalem, Jerusalem, Israel.
Department of Genetics, Faculty of Medicine, Hadassah Medical Center, Hebrew University of Jerusalem, Jerusalem, Israel.
Prenat Diagn. 2023 Jun;43(6):773-780. doi: 10.1002/pd.6337. Epub 2023 Mar 7.
Chromosomal microarray analysis (CMA) may detect variants of uncertain clinical significance (VUS) and susceptibility loci (SL) with incomplete penetrance for neurodevelopmental disorders. This qualitative study provides empirical data on women's experiences with receiving such findings in pregnancy and their decisions regarding continuation or termination of the pregnancy.
Semi-structured interviews were conducted with women who received a VUS and/or SL from prenatal CMA in the last 2-4 years and were analyzed using Grounded Theory.
The vast majority of women recalled being stressed by the findings. All women sought further advice and information to be able to decide whether to continue or terminate their pregnancy. The three pregnancies that were terminated have in common a de novo SL with a 10%-20% penetrance. Similar reasoning (coping with uncertainty, the quest for a perfect child, and a chance for recurrence in future pregnancies) led different women to contradicting conclusions regarding their pregnancies. All women felt satisfied with their decisions.
Although uncertain/probabilistic information commonly involves a psychological burden, it may also be perceived as valuable and actionable. Pre-test parental choice regarding the disclosure of such information could allow personalized utilization of advanced genomic tests in pregnancy.
染色体微阵列分析（CMA）可能会检测到神经发育障碍的不确定临床意义（VUS）和易感性位点（SL）的变体，其外显率不完全。这项定性研究提供了关于女性在怀孕期间接受这些发现的经验以及她们关于继续或终止妊娠的决定的经验数据。
对过去 2-4 年内从产前 CMA 中获得 VUS 和/或 SL 的女性进行半结构化访谈，并使用扎根理论进行分析。
绝大多数女性回忆说发现这些结果压力很大。所有女性都寻求进一步的建议和信息，以便能够决定是否继续或终止妊娠。终止的三个妊娠具有共同的新发 SL，外显率为 10%-20%。类似的推理（应对不确定性、追求完美的孩子，以及未来妊娠中再次发生的机会）导致不同的女性对自己的妊娠得出相互矛盾的结论。所有女性都对自己的决定感到满意。
尽管不确定/概率信息通常会带来心理负担，但它也可能被视为有价值和可操作的信息。在进行此类检测之前，父母可以选择是否披露这些信息，从而可以个性化地利用妊娠时的先进基因组检测。
