Analyzing false‐negative results detected in low‐risk non‐invasive prenatal screening cases [PDF]
Molecular Genetics & Genomic Medicine, 2020 Background The non‐invasive prenatal screening (NIPS) has been introduced into clinical practice with a high sensitivity and specificity. Although the false‐negative results are inevitable and important, limited false‐negative NIPS results have been ...
Ying Lin +6 more
doaj +2 more sources
Improving the Positive Predictive Value of Non-Invasive Prenatal Screening (NIPS). [PDF]
PLoS ONE, 2017 We evaluated performance characteristics of a laboratory-developed, non-invasive prenatal screening (NIPS) assay for fetal aneuploidies. This assay employs massively parallel shotgun sequencing with full automation.
Charles M Strom +18 more
doaj +4 more sources
The Application of Clinical Genetics, 2016 Jean Gekas,1,2 Sylvie Langlois,3 Vardit Ravitsky,4 François Audibert,5 David Gradus van den Berg,6 Hazar Haidar,4 François Rousseau2,7 1Prenatal Diagnosis Unit, Department of Medical Genetics and Pediatrics, Faculty of Medicine, Universit ...
Gekas J +6 more
doaj +1 more source
Potential efficacy of digital polymerase chain reaction for non-invasive prenatal screening of autosomal aneuploidies: a systematic review and meta-analysis [PDF]
BMC Pregnancy and ChildbirthBackground Digital Polymerase Chain Reaction (dPCR) presents a promising approach for quantifying DNA and analyzing copy number variants, particularly in non-invasive prenatal testing.
Mohammadamin Parsaei +6 more
doaj +2 more sources
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. In the Netherlands, NIPT is offered within a governmentally supported screening program as a first-tier screening test for all pregnant women (TRIDENT-2 study).
The Dutch NIPT Consortium +3 more
openaire +2 more sources
Pregnancy outcomes of rare autosomal trisomies results in non‐invasive prenatal screening: clinical follow‐up data from a single tertiary centre [PDF]
Journal of Cellular and Molecular Medicine, 2022 Chunyu Luo, Zhengfeng Xu
exaly +2 more sources
Non-invasive prenatal testing for aneuploidy screening [PDF]
BMJ, 2020 ### What you need to know A 36 year old woman attends her general practice at 8 weeks in her second pregnancy. She has heard there is a new blood test she can have which will test for chromosomal anomalies and wants to find out more. In many countries, screening for trisomies 21 (Down’s syndrome), 18 (Edward’s syndrome), and 13 (Patau’s syndrome) is
Spencer, R +4 more
openaire +3 more sources
Prenatal and postnatal genetic testing toward personalized care: The non-invasive perinatal testing
Molecular and Cellular Probes, 2023 This article investigates how non-invasive prenatal testing and the incorporation of genomic sequencing into newborn screening postnatally are transforming perinatal care.
Lilla Botos +2 more
doaj +1 more source
Relevance of Invasive Testing in Era of Non-Invasive Testing for Prenatal Chromosomal Abnormalities
Gynecology Obstetrics & Reproductive Medicine, 2022 Prenatal screening for chromosomal abnormalities has two components i.e. prenatal screening (maternal serum screening and cell-free fetal DNA screening) and prenatal diagnosis (chorionic villus sampling, amniocentesis, and cordocentesis).
Abhijeet Kumar +2 more
doaj +1 more source
Assessment of a change of protocol of prenatal screening by inclusion of non-invasive prenatal diagnosis [PDF]
Advances in Laboratory Medicine / Avances en Medicina de Laboratorio, 2020 Abstract Objectives Non-invasive prenatal screening (NIPS) is a test for the detection of major fetal chromosomal abnormalities in maternal blood during pregnancy. The purpose of this study was to assess the performance of NIPS implemented within the framework of the Screening Program ...
Cabra-Rodríguez Rocío +5 more
openaire +3 more sources