Alternative option labeling impacts decision‐making in noninvasive prenatal screening
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Genetic Counseling"
DOI: 10.1002/jgc4.1191
Abstract: Prenatal genetic screening should be an informed, autonomous patient choice. Extrinsic factors which influence patient decision‐making threaten the ethical basis of prenatal genetic screening. Prior research in the area of medical decision‐making has identified that… read more here.
Keywords: decision; prenatal screening; option; option labeling ... See more keywords
Consanguineous marriage and its effect on reproductive behavior and uptake of prenatal screening
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Genetic Counseling"
DOI: 10.1002/jgc4.1214
Abstract: The study aimed to determine the prevalence of consanguinity among pregnant women, its effect on reproductive behavior and the uptake of prenatal screening. The sample consisted of 842 pregnant women recruited to a prospective cohort… read more here.
Keywords: reproductive behavior; prenatal screening; consanguineous marriages; behavior uptake ... See more keywords
Interventions aiming to improve informed decision on prenatal screening and testing: A scoping review of the literature.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of genetic counseling"
DOI: 10.1002/jgc4.1437
Abstract: The aim of this scoping review was to explore interventions and their effect in facilitating decision making on prenatal screening and testing among pregnant women. This review was conducted according to the Joanna Briggs Institute… read more here.
Keywords: decision; prenatal screening; scoping review; screening testing ... See more keywords
What knowledge is required for an informed choice related to non-invasive prenatal screening?
Sign Up to like & getrecommendations! Published in 2023 at "Journal of genetic counseling"
DOI: 10.1002/jgc4.1690
Abstract: Non-invasive prenatal screening (NIPS) using cell-free DNA is a screening test for fetal aneuploidy offered by a variety of prenatal healthcare providers. Guidelines for genetic screening consistently recommend that providers facilitate informed choices, which have… read more here.
Keywords: prenatal screening; decisional conflict; non invasive; invasive prenatal ... See more keywords
Clinical performance of DNA‐based prenatal screening using single‐nucleotide polymorphisms approach in Thai women with singleton pregnancy
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1256
Abstract: To review the performance of noninvasive prenatal screening (NIPS) using targeted single‐nucleotide polymorphisms (SNPs) approach in mixed‐risk Thai women. read more here.
Keywords: prenatal screening; nucleotide polymorphisms; single nucleotide; thai women ... See more keywords
Non‐invasive prenatal screening versus prenatal diagnosis by array comparative genomic hybridization: a comparative retrospective study
Sign Up to like & getrecommendations! Published in 2017 at "Prenatal Diagnosis"
DOI: 10.1002/pd.5051
Abstract: To calculate the proportion of array comparative genomic hybridization (aCGH) pathogenic results, that would not be detectable by non‐invasive prenatal screening (NIPS). read more here.
Keywords: prenatal screening; invasive prenatal; genomic hybridization; array comparative ... See more keywords
Challenges in non‐invasive prenatal screening for sub‐chromosomal copy number variations using cell‐free DNA
Sign Up to like & getrecommendations! Published in 2017 at "Prenatal Diagnosis"
DOI: 10.1002/pd.5161
Abstract: Non‐invasive prenatal screening (NIPS) has revolutionized the approach to prenatal fetal aneuploidy screening. Many commercial providers now offer analyses for sub‐chromosomal copy number variations (CNVs). Here, we review the use of NIPS in the context… read more here.
Keywords: prenatal screening; invasive prenatal; copy number; chromosomal copy ... See more keywords
Current controversies in prenatal diagnosis 2: Cell‐free DNA prenatal screening should be used to identify all chromosome abnormalities
Sign Up to like & getrecommendations! Published in 2018 at "Prenatal Diagnosis"
DOI: 10.1002/pd.5216
Abstract: Noninvasive prenatal testing (NIPT) using cell‐free DNA (cfDNA) from maternal serum has been clinically available since 2011. This technology has revolutionized our ability to screen for the common aneuploidies trisomy 21 (Down syndrome), trisomy 18,… read more here.
Keywords: prenatal screening; chromosome abnormalities; free dna; cell free ... See more keywords
Implementing NIPT as part of a national prenatal screening program: The Dutch TRIDENT studies
Sign Up to like & getrecommendations! Published in 2018 at "Prenatal Diagnosis"
DOI: 10.1002/pd.5300
Abstract: Objectives: In most countries, non-invasive prenatal testing (NIPT) has been introduced commercially without any governmental guidance. In the Netherlands, prenatal screening for fetal anomaly is subject to a governmental license. NIPT has been implemented as… read more here.
Keywords: prenatal screening; screening program; nipt; national prenatal ... See more keywords
The impact of HBB‐related hemoglobinopathies carrier status on fetal fraction in noninvasive prenatal screening
Sign Up to like & getrecommendations! Published in 2022 at "Prenatal Diagnosis"
DOI: 10.1002/pd.6127
Abstract: We evaluated whether there is an association between β‐globin (HBB) pathogenic variants and fetal fraction (FF), and whether the association has a clinically relevant impact on non‐invasive prenatal screening (NIPS). read more here.
Keywords: fetal fraction; prenatal screening; impact hbb;
Ethical issues associated with prenatal screening using NIPT for sex chromosome aneuploidy.
Sign Up to like & getrecommendations! Published in 2022 at "Prenatal diagnosis"
DOI: 10.1002/pd.6217
Abstract: Prenatal screening for sex chromosome aneuploidies (SCAs) is increasingly available through expanded non-invasive prenatal testing (NIPT). NIPT screening for SCAs raises complex ethical issues for clinical providers, prospective parents and future children. This paper discusses… read more here.
Keywords: sex chromosome; screening scas; prenatal screening; ethical issues ... See more keywords