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Chromosome Screening of Human Preimplantation Embryos by Using Spent Culture Medium: Sample Collection and Chromosomal Ploidy Analysis
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Information Women Choose to Receive About Prenatal Chromosomal Microarray Analysis
Hagit Hochner1, Hagit Daum, Liza Douiev
1Braun School of Public Health, the Hebrew University of Jerusalem; and the Department of Genetics and Metabolic Diseases, Hebrew University Hadassah Medical Center, Jerusalem, Israel.
Obstetrics and Gynecology
|December 7, 2019
Summary
Women undergoing prenatal chromosomal microarray analysis (CMA) often choose to receive detailed genetic findings. Preferences for information on uncertain variants and adult-onset conditions varied by pregnancy risk and genetic counseling.
Area of Science:
- Genetics
- Reproductive Medicine
- Medical Decision Making
Background:
- Prenatal chromosomal microarray analysis (CMA) provides comprehensive genetic information.
- Interpreting complex CMA findings, such as variants of uncertain significance (VUS), susceptibility loci, and adult-onset condition risks, presents challenges.
- Understanding patient preferences for receiving this information is crucial for informed decision-making.
Purpose of the Study:
- To investigate the choices of pregnant women (high- and low-risk) regarding disclosure of complex prenatal CMA findings.
- To determine if these choices are influenced by testing indications or pretest genetic counseling.
Main Methods:
- Cross-sectional study of 1,070 women undergoing invasive prenatal CMA.
- Analysis of medical records for testing indications, disclosure preferences, and genetic counseling type.
- Logistic regression models used to assess associations between indications, counseling, and choices.
Main Results:
- 56% of women opted to receive all three types of complex findings; 20% declined all beyond high-penetrance childhood-onset results.
- Variants of uncertain significance were the least selected finding (2.5%).
- Low-risk pregnancies showed increased interest in adult-onset condition risks (aOR 1.7) and susceptibility loci (aOR 1.5).
Conclusions:
- Women's preferences for complex prenatal CMA findings are influenced by pregnancy risk and genetic counseling.
- Most women desire comprehensive genetic information, but specific choices vary.
- Tailored genetic counseling is essential for navigating complex prenatal genetic testing results.
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