ReviewPrenatal diagnosis2015
Changing trends in carrier screening for genetic disease in the United States.
Review in Prenatal diagnosis, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
40 citing papers in PubMed.
- The clinical utility of carrier screening.NPJ genomic medicine · 2026Article
- Practice patterns for expanded carrier screening among reproductive endocrinology and infertility physicians.Journal of assisted reproduction and genetics · 2026Article
- Beyond carrier frequency: a preliminary multicenter study of simultaneous couple-based comprehensive carrier screening for common and rare genetic disorders.Genome medicine · 2026Article
- The Heterogeneous Global Burden of Hemoglobinopathies Among Women of Childbearing Age, 1990-2021, with Projection to 2030.International journal of women's health · 2026Article
- A dataset of estimated heterozygous individual and carrier couple frequencies for pan-ancestry carrier screening.Data in brief · 2025Article
- Application of clinical exome sequencing in sperm donor screening in China.Journal of assisted reproduction and genetics · 2025Article
- Nucleic Acid Based Testing (NABing): A Game Changer Technology for Public Health.Molecular biotechnology · 2024Review
- Whole exome sequencing reveal 83 novel Mendelian disorders carrier P/LP variants in Chinese adult patients.Journal of human genetics · 2023Article
- Article
- Article
- Implicit and explicit racial prejudice and stereotyping toward Black (vs. White) Americans: The prevalence and variation among genetic counselors in North America.Journal of genetic counseling · 2023Article
- Current Updates on Expanded Carrier Screening: New Insights in the Omics Era.Medicina (Kaunas, Lithuania) · 2022Review
- Probability of high-risk genetic matching with oocyte and semen donors: complete gene analysis or genotyping test?Journal of assisted reproduction and genetics · 2022Observational
- Disparities among infertility patients regarding genetic carrier screening, sex selection, and gene editing.Journal of assisted reproduction and genetics · 2021Article
- Pathogenic gene variation spectrum and carrier screening for Wilson's disease in Qingdao area.Molecular genetics & genomic medicine · 2021Article
- Current attitudes and preconceptions towards expanded carrier screening in the Eastern Chinese reproductive-aged population.Journal of assisted reproduction and genetics · 2021Article
- Genetic Testing for Parkinson Disease: Are We Ready?Neurology. Clinical practice · 2021Review
- The ethics of preconception expanded carrier screening in patients seeking assisted reproduction.Human reproduction open · 2021Article
- Beyond the "Jewish panel": the importance of offering expanded carrier screening to the Ashkenazi Jewish population.F&S reports · 2020Article
- Bridging the Gap between Scientific Advancement and Real-World Application: Pediatric Genetic Counseling for Common Syndromes and Single-Gene Disorders.Cold Spring Harbor perspectives in medicine · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genetic disease is the leading cause of infant death in the United States, accounting for approximately 20% of annual infant mortality. Advances in genomic medicine and technological platforms have made possible low cost, pan-ethnic expanded genetic screening that enables obstetric care providers to offer screening for over 100 recessive genetic diseases. However, the rapid integration of genomic medicine into routine obstetric practice has raised some concerns about the practical implementation of such testing. These changing trends in carrier screening, along with concerns and potential solutions, will be addressed.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.