Development and validation of a haplotype‐free technique for non‐invasive prenatal diagnosis of spinal muscular atrophy
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Clinical Laboratory Analysis"
DOI: 10.1002/jcla.23046
Abstract: To develop a technique for non‐invasive prenatal diagnosis of spinal muscular atrophy and validate its performance. read more here.
Keywords: diagnosis spinal; invasive prenatal; spinal muscular; prenatal diagnosis ... See more keywords
Non‐Invasive prenatal testing with rolling circle amplification: Real‐world clinical experience in a non‐molecular laboratory
Sign Up to like & getrecommendations! Published in 2023 at "Journal of Clinical Laboratory Analysis"
DOI: 10.1002/jcla.24870
Abstract: Non‐invasive prenatal testing (NIPT) using cell‐free DNA (cfDNA) circulating in maternal blood provides a sensitive and specific screening technique for common fetal aneuploidies, but the high cost and workflow complexity of conventional methodologies limit its… read more here.
Keywords: prenatal testing; rolling circle; non invasive; circle amplification ... 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
Discordant non‐invasive prenatal testing (NIPT) – a systematic review
Sign Up to like & getrecommendations! Published in 2017 at "Prenatal Diagnosis"
DOI: 10.1002/pd.5049
Abstract: With a high sensitivity and specificity, non‐invasive prenatal testing (NIPT) is an incomparable screening test for fetal aneuploidy. However, the method is rather newly introduced, and experiences with discordant results are few. We did a… read more here.
Keywords: testing nipt; invasive prenatal; prenatal testing; systematic review ... 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
Systematic review and meta‐analysis of non‐invasive prenatal DNA testing for trisomy 21: implications for implementation in China
Sign Up to like & getrecommendations! Published in 2017 at "Prenatal Diagnosis"
DOI: 10.1002/pd.5111
Abstract: To systematically review clinical validation studies of massive parallel sequencing (MPS) technology in prenatal screening for trisomy 21 and to explore the potential implementation strategies in China compared with those in developing countries. read more here.
Keywords: invasive prenatal; review meta; systematic review; non invasive ... 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
Population‐based trends in the prenatal diagnosis of sex chromosome aneuploidy before and after non‐invasive prenatal testing
Sign Up to like & getrecommendations! Published in 2018 at "Prenatal Diagnosis"
DOI: 10.1002/pd.5363
Abstract: To assess the impact of non‐invasive prenatal testing (NIPT) on trends in the prenatal diagnosis of sex chromosome aneuploidy (SCA) in a population with >73,000 annual births. read more here.
Keywords: trends prenatal; invasive prenatal; diagnosis; prenatal testing ... See more keywords
Knowledge and attitudes regarding non‐invasive prenatal testing among women in Saudi Arabia
Sign Up to like & getrecommendations! Published in 2021 at "Prenatal Diagnosis"
DOI: 10.1002/pd.5991
Abstract: To explore women's knowledge and attitudes regarding NIPT, its implications, the factors affecting their decision to undergo the test and actions taken following a positive result. read more here.
Keywords: attitudes regarding; invasive prenatal; prenatal testing; non invasive ... See more keywords
State‐wide increase in prenatal diagnosis of klinefelter syndrome on amniocentesis and chorionic villus sampling: Impact of non‐invasive prenatal testing for sex chromosome conditions
Sign Up to like & getrecommendations! Published in 2022 at "Prenatal Diagnosis"
DOI: 10.1002/pd.6103
Abstract: To analyze population‐based trends in the prenatal diagnosis of sex chromosome aneuploidy (SCA) since the availability of non‐invasive prenatal testing (NIPT). read more here.
Keywords: prenatal testing; sex chromosome; diagnosis; non invasive ... See more keywords
Implementation of non‐invasive prenatal testing within a national UK antenatal screening programme: Impact on women's choices
Sign Up to like & getrecommendations! Published in 2022 at "Prenatal Diagnosis"
DOI: 10.1002/pd.6131
Abstract: To evaluate the implementation of non‐invasive prenatal testing (NIPT) on pregnant women's choices in a national NHS antenatal screening programme for Down's syndrome, Edwards' syndrome and Patau's syndrome. read more here.
Keywords: women choices; antenatal screening; prenatal testing; non invasive ... See more keywords