Results 31 to 40 of about 17,532 (272)
Incidental SOS1 variant identified by non-invasive prenatal screening. Prenatal diagnosis and family clinical reassessment [PDF]
, 2021 Incidental SOS1 variant identified by non-invasive prenatal screening: Prenatal diagnosis and family clinical ...
Laura Gigante +8 more
core +1 more source
BMC Pregnancy and Childbirth, 2022 Background The purpose of this study is to evaluate the impact of prenatal screening tests on prenatal diagnosis in Taiwan’s 14 years from 2006 to 2019. Methods The prenatal screening methods evolved from the second-trimester serum screening to combined ...
Ching Hua Hsiao +5 more
doaj +1 more source
BMC Pregnancy and Childbirth, 2020 Background Non-invasive prenatal testing (NIPT) has revolutionized the prenatal screening landscape with its high accuracy and low false positive rate for detecting Trisomy 21, 18 and 13.
Liying Yang, Wei Ching Tan
doaj +1 more source
Fetal medicine and current practice of prenatal screening
Apollo Medicine, 2023 Prenatal screening has come a long way from the discovery of fetal ultrasound markers for Down syndrome followed by improved ultrasound skills where genetic syndromes and major congenital malformations can be diagnosed right in the first trimester itself.
Akshatha Prabhu
doaj +1 more source
Prenatal Diagnosis of Chromosome Abnormalities: A 13-Year Institution Experience
Diagnostics, 2012 Objective: To analyze trends in screening and invasive prenatal diagnosis of chromosome abnormalities (CA) over a 13-year period and correlate them to changes in the national prenatal screening policy.
Carmen Comas +5 more
doaj +1 more source
Canadian Journal of Bioethics, 2023 This article summarizes several Canadian court decisions from 2015 onward stemming from wrongful birth and wrongful life litigation. Plaintiff success often turns on whether causation is established, on a balance of probabilities, between a physician’s ...
Blake Murdoch
doaj +1 more source
Fetal fraction evaluation in non-invasive prenatal screening (NIPS) [PDF]
European Journal of Human Genetics, 2018 An important factor in quality control of non-invasive prenatal screening (NIPS) or testing (NIPT) is a sufficient percentage of fetal DNA to avoid false-negative results. Here we evaluate 14,379 shallow whole-genome sequenced diagnostic NIPS samples, as well as negative controls, for both technical and biological factors that can influence fetal ...
Matthew S. Hestand +8 more
openaire +4 more sources
Prenatal genetic diagnosis of monogenic diseases
Advances in Laboratory Medicine, 2023 Prenatal genetic diagnosis of monogenic diseases is a process involving the use of a variety of molecular techniques for the molecular characterization of a potential monogenic disease in the fetus during pregnancy.
Prior-de Castro Carmen +4 more
doaj +1 more source
Recent trends in prenatal genetic screening and testing [version 1; peer review: 2 approved]
F1000Research, 2019 Prenatal testing in recent years has been moving toward non-invasive methods to determine the fetal risk for genetic disorders without incurring the risk of miscarriage.
Ondrej Pös +2 more
doaj +1 more source
Frontiers in Genetics, 2023 To evaluate the performance of expanded non-invasive prenatal testing (expanded noninvasive prenatal testing, NIPT-Plus) in screening for fetal chromosomal abnormalities includes aneuploidies and copy number variations, a total of 23,116 pregnant women ...
Yongyi Zou +22 more
doaj +1 more source