Jul 2026· Clinical obstetrics and gynecology· 0 citations· 15 references
Medicine
TL;DR
It is argued that testing for adult-onset diseases in the prenatal setting (in the absence of a positive family history) is neither justified nor desirable, based on considerations of equity, scope of practice, downstream burden on the health care system, and psychosocial repercussions.
Abstract
The advent of massively parallel ("next-generation") DNA sequencing has enabled prenatal testing for any and all diseases at reasonable cost, resulting in the widespread adoption of highly expanded carrier screening. While the size and constitution of these gene panels may be critiqued on various grounds, at least all the diseases selected represent potential risks to the newborn or older child if affected. Thus, the rationale behind the effort falls within ACOG's definition of prenatal care as a preventive health service "designed to improve the health and well-being of pregnant and birthing individuals and their infants through evidence-based services." Nowhere does it promise to improve the health of offspring when they reach adulthood. Here, we argue that testing for adult-onset diseases in the prenatal setting (in the absence of a positive family history) is neither justified nor desirable, based on considerations of equity, scope of practice, downstream burden on the health care system, and psychosocial repercussions.
Background and Objectives: Dozens of projects around the world are sequencing the genomes of healthy babies near birth. Genomic information becomes actionable across infancy, childhood and adulthood, making timing of return a design choice for programs. We report the first study of health care professionals' views on t...
Anna C. F. Lewis, Adam H. Buchanan, Aaron J. Goldenberg et al.· medRxiv· 0 citations
Prenatal genomic sequencing can detect far more than clinicians conventionally report. Whether adult-onset conditions diagnosed in the fetus should be disclosed prenatally remains debated, and most laboratories and guidelines restrict reporting to childhood-onset disease. We argue that this restriction is not supported...
B. Arditi, Caitlin D. Baptiste, Jessica L. Giordano et al.· Clinical obstetrics and gyne...· 0 citations
In this narrative review, we outline the historical progression of, and modern advancements in, prenatal diagnosis for monogenic diseases. Initially dependent on invasive sampling procedures, prenatal diagnosis has evolved through the integration of high-throughput molecular techniques, such as next-generation sequenci...
Camille Verebi, J. Nectoux, Thierry Bienvenu· Archives of Medical Research· 0 citations
Highlights What are the main findings? Maternal age and fetal nuchal translucency (NT) showed the strongest associations with Down syndrome during first-trimester prenatal screening, whereas PAPP-A and free β-hCG did not retain independent statistical significance after multivariable adjustment. Incorporating nasal bon...
Zh.E. Torgauytova, A. Ayazbekov, Gulzhakhan Omarova et al.· Healthcare· 0 citations
Genome-wide sequencing (GWS) has become an important tool in paediatric medicine, but it may uncover secondary findings (SFs) through opportunistic screening. The disclosure of adult-onset SFs in children, who cannot consent, raises ethical concerns regarding potential psychosocial harm and future autonomy. This paper...
Emily Wheeler, Wayne Shelton, G. Geis· Journal of Medical Ethics· 0 citations
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