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Clinical experience of unexpected findings in prenatal array testing
Marieke Joosten1, Karin Em Diderich1, Diane Van Opstal1
1Department of Clinical Genetics, Erasmus Medical Center, Wytemaweg 80, 3015 CN Rotterdam, The Netherlands.
Biomarkers in Medicine
|July 15, 2016
Summary
Unexpected diagnoses from prenatal array testing significantly aid pregnancy management and genetic counseling. Most couples found these results valuable for making informed decisions about their pregnancy course.
Area of Science:
- Genetics
- Prenatal Diagnostics
- Reproductive Medicine
Background:
- Prenatal array testing offers comprehensive genetic analysis during pregnancy.
- Unexpected diagnoses (UDs) can arise from such testing, necessitating evaluation of their clinical utility.
Purpose of the Study:
- To assess the contribution of unexpected diagnoses from prenatal array testing to pregnancy management.
- To determine the clinical usefulness of UDs for expectant couples and healthcare providers.
Main Methods:
- A retrospective analysis of pregnancies undergoing prenatal array testing between 2010-2015.
- Evaluation of UDs based on couple responses during post-test counseling and subsequent decisions.
Main Results:
- Unexpected diagnoses occurred in 0.5% (19/4043) of pregnancies.
- In 16 out of 19 cases, UDs proved helpful for decision-making, perinatal management, or family genetic counseling.
Conclusions:
- The majority of pregnant couples perceived UDs as relevant for managing their pregnancy and for genetic counseling.
- Offering whole genome array testing during pregnancy supports informed decision-making for couples desiring comprehensive fetal genetic assessment.
