Information Women Choose to Receive About Prenatal Chromosomal Microarray Analysis

Abstract

OBJECTIVE: To examine the choices of women with both high-risk and low-risk pregnancies who are undergoing prenatal chromosomal microarray analysis in a clinical setting regarding three challenging types of findings: variants of uncertain clinical significance, susceptibility loci for neurodevelopmental disorders, and copy number variants associated with risks for adult-onset conditions. We assessed whether women's choices were associated with indications for testing or with one-on-one pretest genetic counseling. METHODS: In this cross-sectional study, medical records of women who underwent invasive prenatal chromosomal microarray analysis testing (N=1,070) at Hadassah Medical Center between June 2017 and February 2018 were examined for testing indications, choices regarding chromosomal microarray analysis findings, and type of pretest genetic counseling. Multivariable analyses to assess associations with testing indication and prior genetic counseling were carried out using logistic regression models. RESULTS: In total, 56% of women (n=593) chose to be informed of all three types of findings and 20% (n=218) chose not to be informed of any of the findings beyond high-penetrance childhood-onset pathogenic findings. Variants of uncertain clinical significance as a single choice was the least-selected finding (2.5%, n=27). Low-risk pregnancies (ie, those with normal biochemical screening and fetal ultrasound examinations) were associated with increased interest in receiving genetic information about adult-onset conditions (adjusted odds ratio [aOR] 1.7; 95% CI 1.18–2.33) and susceptibility loci (aOR 1.5; 95% CI 1.08–2.10). CONCLUSION: Women with both high-risk and low-risk pregnancies were generally more likely to choose to receive additional genetic information, albeit differences in preferences depend on testing indication and type of pretest counseling.

Personalized prenatal genomic testing: Couples' experience with choice regarding uncertain and adult‐onset findings from chromosomal‐microarray‐analysis

“…Regarding actionability, the same type of information was seen as worthwhile by those who chose to receive it, and superfluous by those who declined it. In a previous study, we showed that VUS were requested less often than SL and risks for adult‐onset conditions 3 . It has also been demonstrated that women are not likely to terminate pregnancy based on a VUS alone, that is, when ultrasound scans are normal 16 .…”

“…As previously detailed, about 60% of women undergoing amniocentesis in our center opt for testing because of advanced maternal age (AMA; with no abnormal findings in any of the biochemical screening tests and ultrasound scans) or personal wish, and the other 40% have a medical indication, such as abnormal ultrasound findings or a known monogenic disease. 3 All women undergoing amniocentesis are asked to indicate, as part of the consent process, which of the following findings they wish/do not wish to receive about their fetus: VUS, low-penetrant SL (10% and less), and CNVs associated with risk for adult-onset conditions. Prior to amniocentesis, women/couples met with a genetic counselor who provided an explanation about the various findings and answered questions.…”

“…In a previous study, we showed that VUS were requested less often than SL and risks for adult-onset conditions. 3 It has also been demonstrated that women are not likely to terminate pregnancy based on a VUS alone, that is, when ultrasound scans are normal. 16 Terminating based on SL alone is more prevalent, especially if penetrance is moderate to high.…”

“…Advanced genomic technologies, such as Chromosomal‐microarray‐analysis (CMA), and exome sequencing are gradually becoming an integral part of prenatal care 1‐5 …”

“…The few available studies on parental choice from the Netherlands, Australia and Israel show that when asked which CMA findings they would like to receive, most women opt for maximal information on their fetuses, yet many wish to avoid uncertain results 3,9‐11 …”