ArticleEuropean journal of human genetics : EJHG2018
Offering pregnant women different levels of genetic information from prenatal chromosome microarray: a prospective study.
Article in European journal of human genetics : EJHG, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
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Who cites it
11 citing papers in PubMed, 1 synthesis or guideline pooled it, 26 citations in OpenAlex.
- Couples experiences of receiving uncertain results following prenatal microarray or exome sequencing: A mixed-methods systematic review.Prenatal diagnosis · 2020Pooled it
- Impact of a digital platform on genetic counselling encounters in the screening context.European journal of human genetics : EJHG · 2026Article
- Article
- Exploring attitudes and experiences with reproductive genetic carrier screening among couples seeking medically assisted reproduction: a longitudinal survey study.Journal of assisted reproduction and genetics · 2024Article
- Attitudes toward uncertain results from prenatal exome sequencing: a national survey among healthcare professionals working in the prenatal setting.Frontiers in medicine · 2024Article
- Perinatal outcomes and genomic characteristics of fetal copy number variants: An individual record linkage study of 713 pregnancies.Prenatal diagnosis · 2023Article
- Postpartum women's attitudes to disclosure of adult-onset conditions in pregnancy.Prenatal diagnosis · 2022Article
- A framework for reporting secondary and incidental findings in prenatal sequencing: When and for whom?Prenatal diagnosis · 2022Review
- Study protocol: childhood outcomes of fetal genomic variants: the PrenatAL Microarray (PALM) cohort study.BMC pediatrics · 2021Article
- Detection of copy number variants with chromosomal microarray in 10 377 pregnancies at a single laboratory.Acta obstetricia et gynecologica Scandinavica · 2020Article
- Exome sequencing in newborns with congenital deafness as a model for genomic newborn screening: the Baby Beyond Hearing project.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
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Authors and funding
16 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
This study aimed to examine the choice pregnant women make about the amount of fetal genetic information they want from chromosome microarray. Women having invasive prenatal testing in the absence of fetal structural abnormality were recruited in Victoria, Australia. A decision aid for women described 'targeted' analysis as reporting only copy number variants implicated in a highly penetrant and well-described phenotype and 'extended' as additionally reporting variants of uncertain or unknown significance. Participant's choice and demographics were collected by survey before chorionic villus sampling or amniocentesis; psychological data were also collected then and again about 10 days after receiving results. High-resolution single-nucleotide polymorphism array analysis was performed, and a clinical review committee assessed variants for reporting before returning results to participants. Sixty-six participants (59.5%) chose extended analysis and 45 (40.5%) targeted. Choosing extended information was associated with (1) indication for prenatal diagnosis: maternal age alone (adjusted odds ratio (adjOR) 9.6, 95% confidence interval (CI): 1.4-66.0, p= 0.02), or 'other' indication (adjOR 7.1, 95% CI: 1.5-33.1, p= 0.01)); (2) >12 months to conceive (adjOR 4.1, 95% CI: 1.0-17.7, p= 0.05); and (3) Asian background (adjOR 4.67, 95% CI: 1.0-21.0, p= 0.04). No adverse psychological impact occurred in either group. We conclude that offering pregnant women different levels of fetal genetic analysis is warranted, alongside decision support.
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