A Cell‐free DNA Barcode‐Enabled Single‐Molecule Test for Noninvasive Prenatal Diagnosis of Monogenic Disorders: Application to β‐Thalassemia
Sign Up to like & getrecommendations! Published in 2019 at "Advanced Science"
DOI: 10.1002/advs.201802332
Abstract: Abstract Noninvasive prenatal testing of common aneuploidies has become routine over the past decade, but testing of monogenic disorders remains a challenge in clinical implementation. Most recent studies have inherent limitations, such as complicated procedures,… read more here.
Keywords: molecule; monogenic disorders; barcode enabled; free dna ... See more keywords
The accuracy and feasibility of noninvasive prenatal testing in a consecutive series of 20,626 pregnancies with different clinical characteristics
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Clinical Laboratory Analysis"
DOI: 10.1002/jcla.24660
Abstract: To evaluate the accuracy and feasibility of noninvasive prenatal testing (NIPT) according to the results of NIPT and pregnancy outcomes with different indications. read more here.
Keywords: noninvasive prenatal; prenatal testing; accuracy feasibility; consecutive series ... See more keywords
Alternative option labeling impacts decision‐making in noninvasive prenatal screening
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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
High rates of "atypical" single nucleotide polymorphism-based noninvasive prenatal screening results among consanguineous Arab American patients: A single center retrospective study.
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DOI: 10.1002/jgc4.1714
Abstract: Noninvasive prenatal screening (NIPS), using placental cell-free DNA from a maternal blood sample, is currently the most sensitive and specific screening tool for detecting common fetal aneuploidies. The aim of this study was to compare… read more here.
Keywords: noninvasive prenatal; atypical results; arab american; non arab ... See more keywords
Noninvasive prenatal diagnosis based on cell-free DNA for tuberous sclerosis: A pilot study.
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DOI: 10.1002/mgg3.1952
Abstract: BACKGROUND Noninvasive prenatal diagnosis (NIPD) based on cell-free DNA (cfDNA) has been introduced into the clinical application for some monogenic disorders but not for tuberous sclerosis (TSC) yet, which is an autosomal dominant disease caused… read more here.
Keywords: dna; cell free; prenatal diagnosis; based cell ... See more keywords
Knowledge and attitude of pregnant women in the Kingdom of Saudi Arabia toward Noninvasive prenatal testing: A single center study
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1960
Abstract: Noninvasive prenatal testing (NIPT) is a screening tool for chromosomal aneuploidies. Prior knowledge of NIPT is an inherent factor in the decision‐making process. We assessed the knowledge and attitude of pregnant women related to prenatal… read more here.
Keywords: noninvasive prenatal; prenatal testing; pregnant women; knowledge attitude ... See more keywords
Has noninvasive prenatal testing impacted termination of pregnancy and live birth rates of infants with Down syndrome?
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DOI: 10.1002/pd.5182
Abstract: Implementation of noninvasive prenatal testing (NIPT) as a highly accurate aneuploidy screening test has raised questions around whether the high uptake may result in more terminations of pregnancies and fewer births of children with Down… read more here.
Keywords: testing impacted; prenatal testing; pregnancy live; termination pregnancy ... See more keywords
Application of noninvasive prenatal testing in pregnancies with fetal double bubble sign: Is it feasible?
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DOI: 10.1002/pd.5248
Abstract: To evaluate the application of noninvasive prenatal testing as an alternative to invasive diagnostic testing in pregnancies with the double bubble sign. read more here.
Keywords: application noninvasive; prenatal testing; testing pregnancies; bubble sign ... See more keywords
Development of a common platform for the noninvasive prenatal diagnosis of X‐linked diseases
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DOI: 10.1002/pd.5337
Abstract: The aim of this study was to develop a common targeted massively parallel sequencing platform for the noninvasive prenatal diagnosis (NIPD) of multiple X‐linked diseases. read more here.
Keywords: platform noninvasive; diagnosis; development common; prenatal diagnosis ... See more keywords
What are women saying about noninvasive prenatal testing? An analysis of online pregnancy discussion forums
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DOI: 10.1002/pd.5500
Abstract: The aim of this study was to explore what women are saying about noninvasive prenatal testing (NIPT) in online discussion forums. read more here.
Keywords: discussion forums; prenatal testing; noninvasive prenatal; women saying ... See more keywords
Validation of fetal DNA fraction estimation and its application in noninvasive prenatal testing for aneuploidy detection in multiple pregnancies
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DOI: 10.1002/pd.5597
Abstract: To analyze the fetal fraction, fetal sex, and chromosomal aneuploidy in multiple pregnancies using noninvasive prenatal testing (NIPT). read more here.
Keywords: multiple pregnancies; prenatal testing; noninvasive prenatal; validation fetal ... See more keywords