ArticlePrenatal diagnosis2022
Preference for secondary findings in prenatal and pediatric exome sequencing.
Article in Prenatal diagnosis, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 17 citations in OpenAlex.
- Twenty-Two Years of Prenatal Testing for Suspected Monogenic Disorders: A Retrospective Single-Center Experience in Western Romania.Medical sciences (Basel, Switzerland) · 2026Article
- Gene List Selection Matters: Missed Diagnoses in Prenatal Exome Sequencing-PanelApp R21 and HPO-Driven Versus OMIM-Based Gene Lists.Prenatal diagnosis · 2026Article
- Article
- Secondary findings in pediatric genomic testing: clinical insights from Turkey.European journal of pediatrics · 2025Article
- Use of Prenatal Exome Sequencing: Opinion Statement of the French Federation of Human Genetics Working Group.Prenatal diagnosis · 2025Review
- Eliciting parental preferences and values for the return of additional findings from genomic sequencing.NPJ genomic medicine · 2024Article
- Parents' attitudes towards research involving genome sequencing of their healthy children: a qualitative study.European journal of human genetics : EJHG · 2024Article
- Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.NPJ genomic medicine · 2023Article
- Prenatal exome and genome sequencing for fetal structural abnormalities.American journal of obstetrics and gynecology · 2023Review
- An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history.European journal of human genetics : EJHG · 2023Article
- Factors that impact on women's decision-making around prenatal genomic tests: An international discrete choice survey.Prenatal diagnosis · 2022Review
- Prenatal exomes and genomes - so much new and so much more to learn.Prenatal diagnosis · 2022Article
- A framework for reporting secondary and incidental findings in prenatal sequencing: When and for whom?Prenatal diagnosis · 2022Review
Corrections and comments
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Authors and funding
12 authors at 1 institution in 1 country.
Funding
Abstract
objectiveWe aimed to determine the frequency of accepting secondary findings in families undergoing exome sequencing in prenatal and pediatric settings.
methodsThis was a secondary analysis of prospectively enrolled patients undergoing trio exome sequencing for congenital anomalies or developmental disorders in prenatal and pediatric settings, in which families were offered receiving secondary findings (initially assessed in the proband and, if identified, then in the parents). The primary outcome was frequency of accepting secondary findings. Secondary outcomes included frequency of acceptance in prenatal versus pediatric settings, and sociodemographic differences between those who accepted versus declined secondary findings.
resultsThere were 682 families included in the cohort (289 prenatal and 393 pediatric). Overall, 84% (576/682) of families accepted secondary findings: 86.2% (249/289) of families undergoing prenatal versus 83.2% (327/393) pediatric (p = 0.30) testing. Secondary findings were identified in 2.6% (15/576) of cases, with no difference between prenatal and pediatric settings. There were no differences in sociodemographics between families that accepted versus declined secondary findings.
conclusionThe majority of families undergoing exome sequencing accepted secondary findings; this did not differ in prenatal versus pediatric settings. This highlights the need for guidance surrounding the offer of secondary findings in the prenatal setting.
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