Association of Patient and Site-of-Care Characteristics With Reproductive Carrier Screening Timing in a Large Integrated Health System
Sign Up to like & getrecommendations! Published in 2022 at "JAMA Network Open"
DOI: 10.1001/jamanetworkopen.2022.40829
Abstract: Key Points Question Are site of care, clinician, and patient-specific factors associated with differences in whether reproductive genetic carrier screening was ordered prior to vs during pregnancy across a health care system? Findings This cross-sectional… read more here.
Keywords: system; site care; health; carrier screening ... See more keywords
Clinical validity of expanded carrier screening: Evaluating the gene‐disease relationship in more than 200 conditions
Sign Up to like & getrecommendations! Published in 2020 at "Human Mutation"
DOI: 10.1002/humu.24033
Abstract: Clinical guidelines consider expanded carrier screening (ECS) to be an acceptable method of carrier screening. However, broader guideline support and payer adoption require evidence for associations between the genes on ECS panels and the conditions… read more here.
Keywords: carrier screening; gene; gene disease; clinical validity ... See more keywords
Perceived barriers to paternal expanded carrier screening following a positive maternal result: To screen or not to screen
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Genetic Counseling"
DOI: 10.1002/jgc4.1333
Abstract: Expanded carrier screening identifies individuals who are at risk of having a child with an autosomal recessive condition. The most accurate risk assessment requires that both mother and father undergo carrier screening to determine whether… read more here.
Keywords: carrier screening; following positive; expanded carrier; screen ... See more keywords
Interest in and uptake of genetic counseling for preconception carrier screening when offered to predominantly white reproductive-age persons seeking gynecologic care at a single U.S. academic medical center.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of genetic counseling"
DOI: 10.1002/jgc4.1457
Abstract: The objective of this study was to assess the level of interest in preconception carrier screening among reproductive-aged persons presenting for gynecologic care and to identify demographic factors predictive of pursuing screening. Patients aged 18-40… read more here.
Keywords: genetic counseling; carrier screening; interest; preconception carrier ... See more keywords
Reasons affecting the uptake of reproductive genetic carrier screening among nonpregnant reproductive‐aged women in Flanders (Belgium)
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Genetic Counseling"
DOI: 10.1002/jgc4.1575
Abstract: Reproductive genetic carrier screening (RGCS) allows to identify couples who have an increased likelihood of conceiving a child affected with an autosomal recessive or X‐linked monogenic condition. Multiple studies have reported on a wide and… read more here.
Keywords: genetic carrier; rgcs; carrier screening; reasons accept ... See more keywords
Expanded carrier screening for reproductive risk assessment: An evidence-based practice guideline from the National Society of Genetic Counselors.
Sign Up to like & getrecommendations! Published in 2023 at "Journal of genetic counseling"
DOI: 10.1002/jgc4.1676
Abstract: Expanded carrier screening (ECS) intends to broadly screen healthy individuals to determine their reproductive chance for autosomal recessive (AR) and X-linked (XL) conditions with infantile or early-childhood onset, which may impact reproductive management (Committee Opinion… read more here.
Keywords: ecs; carrier; carrier screening; evidence ... See more keywords
Current attitudes toward carrier screening for spinal muscular atrophy among pregnant women in Eastern China.
Sign Up to like & getrecommendations! Published in 2023 at "Journal of genetic counseling"
DOI: 10.1002/jgc4.1691
Abstract: Spinal muscular atrophy (SMA) is an autosomal recessive and often fatal neurological disease. However, very little is known about the attitudes toward SMA carrier screening among Chinese pregnant people. In this study, pregnant women in… read more here.
Keywords: attitudes toward; carrier screening; pregnant women; sma ... See more keywords
Pregnant Latinas' perspectives on pursuing expanded carrier screening: "It is better to know than not".
Sign Up to like & getrecommendations! Published in 2023 at "Journal of genetic counseling"
DOI: 10.1002/jgc4.1696
Abstract: With the advance of genetic technologies, the use of expanded carrier screening (ECS) in the prenatal setting is growing. ECS tests for a wide range of inherited genetic disorders regardless of racial/ethnic background and family… read more here.
Keywords: ecs; carrier screening; pregnant latinas; expanded carrier ... See more keywords
Expanded carrier screening for inherited genetic disease using exome and genome sequencing
Sign Up to like & getrecommendations! Published in 2024 at "Journal of Genetic Counseling"
DOI: 10.1002/jgc4.1964
Abstract: The goal of this study was to assess the feasibility of using exome (ES) and genome sequencing (GS) in guiding preconception genetic screening (PCGS) for couples who are planning to conceive by creating a workflow… read more here.
Keywords: using exome; exome genome; expanded carrier; genome sequencing ... See more keywords
Prospective parents' views on reproductive genetic carrier screening: “You know better, you do better”
Sign Up to like & getrecommendations! Published in 2025 at "Journal of Genetic Counseling"
DOI: 10.1002/jgc4.70100
Abstract: Reproductive genetic carrier screening (RGCS) allows screening for hundreds of autosomal recessive and X‐linked conditions. Multiple clinical professional bodies recommend that RGCS be offered to all prospective parents. There is some research into attitudes to… read more here.
Keywords: genetic carrier; reproductive genetic; rgcs; prospective parents ... See more keywords
Clinical application value of pre‐pregnancy carrier screening in Chinese Han childbearing population
Sign Up to like & getrecommendations! Published in 2024 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2425
Abstract: To explore the clinical application value of pre‐conception expanded carrier screening (PECS) in the Chinese Han ethnicity population of childbearing age. read more here.
Keywords: clinical application; application value; value pre; chinese han ... See more keywords