Experiences of receiving an increased chance of sex chromosome aneuploidy result from non‐invasive prenatal testing in Australia: “A more complicated scenario than what I had ever realized”

Experiences of receiving an increased chance of sex chromosome aneuploidy result from non‐invasive prenatal testing in Australia: “A more complicated scenario than what I had ever realized”

Many non‐invasive prenatal testing (NIPT) platforms screen for sex chromosome aneuploidy (SCA) and SCA analysis is generally included in Australia where NIPT is available as a self‐funded test. Little is known about the experience of receiving an NIPT result indicating an increased chance of SCA. Th...

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Bibliographic Details
Published in:Journal of genetic counseling Vol. 32; no. 1; pp. 213 - 223
Main Authors: Lewit‐Mendes, Miranda F., Robson, Hazel, Kelley, Joanne, Elliott, Justine, Brown, Erica, Menezes, Melody, Archibald, Alison D.
Format: Journal Article
Language:English
Published: United States Blackwell Publishing Ltd 01-02-2023
Subjects:
Access
Aneuploidy
Australia
cell‐free DNA screening
Chromosomes
Decision making
Female
Genetic counseling
genetic counselling
Genetic testing
Genetic Testing - methods
Health care
Humans
lived experience
Male
Medical personnel
Non-invasive
non‐invasive prenatal screening
non‐invasive prenatal testing
Pregnancy
Prenatal Diagnosis - methods
Prenatal testing
Quality of care
Sex Chromosome Aberrations
sex chromosome aneuploidy
Sex Chromosomes
Tests
Uptake
Women
Australia
genetic counseling
genetic counselling
cell-free DNA screening
non-invasive prenatal testing
sex chromosome aneuploidy
decision-making
lived experience
non-invasive prenatal screening
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Summary:Many non‐invasive prenatal testing (NIPT) platforms screen for sex chromosome aneuploidy (SCA) and SCA analysis is generally included in Australia where NIPT is available as a self‐funded test. Little is known about the experience of receiving an NIPT result indicating an increased chance of SCA. This study aimed to explore the experiences of people who received this result and their perspectives on the information, care, and support they received from healthcare practitioners (HCPs). Semi‐structured interviews were conducted with people who received an NIPT result indicating an increased chance of SCA and continued their pregnancy. Most participants only had contact with a genetic counselor after receiving their result. Transcribed data were analyzed using rigorous thematic analysis to identify important patterns and themes. Participants (18 women, 2 male partners) described embarking on NIPT, primarily based on advice from their HCP and without much consideration. Consequently, participants expressed feeling unprepared for the unanticipated complexity of their NIPT result and were faced with making a time‐sensitive decision about a condition they had not previously considered. While more pre‐test information was desired, timely access to genetic counseling post‐test assisted with adjustment to the result. These findings suggest that routinization of NIPT may be compromising informed decision‐making, resulting in unpreparedness for an increased chance result. Given the increasing uptake and expanding scope of NIPT, resources should be dedicated to educating HCPs offering NIPT and ensuring timely access to genetic counseling post‐result. With appropriate funding, genetics services may be able to play a central role in offering information and support to both people who undertake NIPT and their HCPs ordering the testing. Implementing a publicly funded screening program in Australia could assist with standardizing prenatal screening care pathways and consequently better access to appropriate resources.
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ISSN:1059-7700
1573-3599
DOI:10.1002/jgc4.1635