Results 71 to 80 of about 12,655,449 (158)

Non-invasive foetal sexing : medical test or a new tool for sex selection? [PDF]

, 2011
Recent scientific developments in prenatal testing, based on foetal DNA in maternal blood, now allow non-invasive foetal sexing early in pregnancies at risk of a sex-linked disorder. In such cases, these novel non-invasive tests can improve prenatal care
Szczepura, Ala, Osipenko, Leeza
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Parental Decision‐Making and Pregnancy Outcomes After Increased First‐Trimester Nuchal Translucency: A 12‐Year Cohort

Prenatal Diagnosis, Volume 46, Issue 10, Page 1520-1528, September 2026.
ABSTRACT Objective To describe diagnostic trajectories and parental decision‐making following increased first‐trimester nuchal translucency (NT), according to NT thickness. Method This 12‐year retrospective cohort study was conducted at a French tertiary Prenatal Diagnosis and Fetal Medicine Center and included 316 singleton pregnancies with first ...
Benjamin Birene, Jean‐Paul Bory, Eloi Dondeyne, Anne Charbonneau, Clémence Jacquin, Emilie Landais, Mohamed Dakin, Olivier Graesslin   +7 more
wiley   +1 more source

Non-invasive prenatal testing: a review of international implementation and challenges

, 2015
Megan Allyse,1 Mollie A Minear,2 Elisa Berson,3 Shilpa Sridhar,3 Margaret Rote,3 Anthony Hung,3 Subhashini Chandrasekharan4 1Institute for Health and Aging, University of California San Francisco, San Francisco, California, USA, 2Duke Science & ...
Allyse M, Minear MA, Sridhar S, Rote M, Hung A, Chandrasekharan S, Berson E   +6 more
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Screening for 22q11.2 deletion syndrome by two non-invasive prenatal testing methodologies: A case with discordant results

Taiwanese Journal of Obstetrics & Gynecology, 2019
Objective: Non-invasive prenatal testing (NIPT) through the analysis of cell-free DNA in maternal plasma has bee expanded to include clinically-relevant microdeletions such as the 22q11.2 deletion syndrome (22q11.2DS). Case report: We present a pregnancy
Liang-Ming Lo, Chii-Shinn Shiau, Kuang-Chao Chen, S.W.S. Shaw, Peter Benn   +4 more
doaj   +1 more source

Prenatal Phenotypic Features of Five Fetal Cases With RNU4ATAC‐Associated Microcephalic Osteodysplastic Primordial Dwarfism Type I

Prenatal Diagnosis, Volume 46, Issue 10, Page 1648-1654, September 2026.
ABSTRACT Objective To present the prenatal sonographic features, genomic findings, and pregnancy outcomes of fetuses with biallelic pathogenic RNU4ATAC variants linked to microcephalic osteodysplastic primordial dwarfism type I (MOPD1). Methods This retrospective case series includes five prenatal cases with MOPD1.
Alexandra Liebmann, Tanja Richter, Nevena Krstić, Markus Hoopmann, Karl Oliver Kagan, Lena‐Sophie Menig‐Benzig, Simone Olivieri, Olaf Riess, Andreas Dufke   +8 more
wiley   +1 more source

Non-invasive prenatal testing for chromosomal aneuploidies

, 2017
The aim of this literature review is to give an overview of the conventional screening methods currently utilized for prenatal detection of chromosomal abnormalities and the development of non-invasive prenatal testing (NIPT) starting with the original ...
Joseph, Hazel Kristine
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Routinization of prenatal screening with the non-invasive prenatal test: pregnant women’s perspectives [PDF]

, 2022
Due to the favorable test characteristics of the non-invasive prenatal test (NIPT) in the screening of fetal aneuploidy, there has been a strong and growing demand for implementation.
The Dutch NIPT Consortium
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Genetic counseling of non-invasive prenatal testing (NIPT) trisomy 7-positive pregnancies

Taiwanese Journal of Obstetrics & Gynecology
Trisomy 7 is the most common observed type of rare autosomal trisomies (RATs) detected at expanded genome-wide non-invasive prenatal testing (NIPT). Genetic counseling of NIPT trisomy 7-positive pregnancies remains to be not easy because the parents may ...
Chih-Ping Chen
doaj   +1 more source

Efficiency of Non-Invasive Prenatal Testing in Detecting Fetal Copy Number Variation: A Retrospective Cohort Study [PDF]

Li Yang,1 Jing Yang,2 Guosen Bu,3 Rui Han,1 Jiamila Rezhake,1 Xiaolin La1 1Center of Reproductive Medicine, The First Affiliated Hospital of Xinjiang Medical University, Urumqi, 830054, People’s Republic of China; 2Department of Gynaecology, The Fifth ...
Yang J, Han R, Yang L, Bu G, La X, Rezhake J   +5 more
core  

Discordant non-invasive prenatal testing (NIPT):a systematic review

, 2017
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.
Tanja Schlaikjaer Hartwig, Steen Sørensen, Sørensen, Steen, Ambye, Louise, Finn Stener Jørgensen, Jørgensen, Finn Stener, Hartwig, Tanja Schlaikjaer, Louise Ambye   +7 more
core   +1 more source