Exome sequencing improves genetic diagnosis of fetal increased nuchal translucency
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DOI: 10.1002/pd.5789
Abstract: The aim of this retrospective study is to determine the monogenic syndromes in fetuses with isolated first‐trimester increased nuchal translucency (NT) in order to provide more accurate parental counseling. read more here.
Keywords: exome sequencing; diagnosis; sequencing improves; nuchal translucency ... See more keywords
The clinical impact of the first trimester nuchal translucency between the 95th -99th percentile.
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DOI: 10.1002/pd.6390
Abstract: OBJECTIVES To evaluate the clinical significance of nuchal translucency (NT) between the 95th -99th percentile, in terms of typical and atypical chromosomal abnormalities (ACA), associated fetal congenital defects and postnatal outcome. METHODS Retrospective cohort study… read more here.
Keywords: 95th 99th; nuchal translucency; 99th percentile; translucency 95th ... See more keywords
102: Do maternal characteristics affect nuchal translucency variation?: Analysis of five million cases from NTQR Program
Sign Up to like & getrecommendations! Published in 2020 at "American Journal of Obstetrics and Gynecology"
DOI: 10.1016/j.ajog.2019.11.118
Abstract: s 101-325 101 Unbiased metabolomics reveals polycyclic aromatic hydrocarbon exposure is associated with alterations in placental glutamate metabolism Melissa Suter, Chandrashekar Ambati, Matthew Robertson, Cristian Coarfa, Krithika Lingappan, Vasanta Putluri, Arun Sreekumar, Nagireddy Putluri, Bhagavatula… read more here.
Keywords: affect nuchal; characteristics affect; translucency variation; maternal characteristics ... See more keywords
What would be missed in the first trimester if nuchal translucency measurement is replaced by cell free DNA foetal aneuploidy screening?
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Obstetrics and Gynaecology"
DOI: 10.1080/01443615.2017.1391755
Abstract: Abstract The aim of this study was to evaluate which chromosomal abnormalities in our cohort of foetuses with increased nuchal translucency (NT) in the first trimester of pregnancy could be detected by cell free (cf)DNA… read more here.
Keywords: cfdna screening; screening would; free dna; cell free ... See more keywords
Complementary Approaches in Fetal Genetic Diagnosis: Decision-Making Process and Alternative Choices for Clinicians in a Secondary Health Care Institution
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DOI: 10.1080/15513815.2021.2022818
Abstract: Abstract Objectives The aim of this study was to determine indications of invasive, genetic results of conventional karyotyping and chromosomal microarray analysis and culture failure rates to discuss possible solution options and guide our clinical… read more here.
Keywords: failure rates; nuchal translucency; diagnosis; thickened nuchal ... See more keywords
Increased nuchal translucency in fetuses with a normal karyotype—diagnosis and management
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DOI: 10.1097/md.0000000000007521
Abstract: Abstract The use of nuchal translucency (NT) in 1992 by Nicolaides et al was a major breakthrough in screening for chromosomal aneuploidies at the end of the first trimester. However, pathological conditions other than chromosomal… read more here.
Keywords: fetuses normal; translucency; management; translucency fetuses ... See more keywords