Results 11 to 20 of about 1,997,745 (357)

Prenatal screening and genetics [PDF]

The European Journal of Public Health, 2001
Although the term 'genetic screening' has been used for decades, this paper discusses how, in its most precise meaning, genetic screening has not yet been widely introduced. 'Prenatal screening' is often confused with 'genetic screening'. As we show, these terms have different meanings, and we examine definitions of the relevant concepts in order to ...
Alderson, P, Aro, AR, Dragonas, T, Ettorre, E, Hemminki, E, Jalinoja, P, Santalahti, P, Tymstra, T   +7 more
core   +10 more sources

Systematic evidence-based review: The application of noninvasive prenatal screening using cell-free DNA in general-risk pregnancies

Genetics in Medicine, 2022
PURPOSE Noninvasive prenatal screening (NIPS) using cell-free DNA has been assimilated into prenatal care. Prior studies examined clinical validity and technical performance in high-risk populations.
Mónica R Mcclain
exaly   +2 more sources

Uptake of fetal aneuploidy screening after the introduction of the non‐invasive prenatal test: A national population‐based register study

Acta Obstetricia Et Gynecologica Scandinavica, 2021
The introduction of the non‐invasive prenatal test (NIPT) has shifted the prenatal screening landscape. Countries are exploring ways to integrate NIPT in their national prenatal screening programs, either as a first‐ or second‐tier test. This study aimed
Wendy Rodenburg, Erik A Sistermans, Martina C Cornel   +2 more
exaly   +2 more sources

Prenatal Screening Vouchers [PDF]

Journal of the Royal Society of Medicine, 1996
Prenatal screening for congenital disease is controversial. Although it increases choice and may reduce the prevalence of handicap, people are ambivalent about abortion, and the benefits may not always outweigh the side effectsl. Although it may provide reassurance and let people prepare for bad news, screening also causes miscarriage and anxiety, and ...
R J, Lilford, J G, Thornton
  +9 more sources

Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).

Genetics in Medicine, 2022
PURPOSE This workgroup aimed to develop an evidence-based clinical practice guideline for the use of noninvasive prenatal screening (NIPS) for pregnant individuals at general risk for fetal trisomy 21, trisomy 18, or trisomy 13 and to evaluate the ...
J. Dungan, S. Klugman, S. Darilek, J. Malinowski, Yassmine M N Akkari, K. Monaghan, Angelika L Erwin, R. Best   +7 more
semanticscholar   +1 more source

Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions

Genes, 2023
Diagnosis of a chromosome 22q11.2 microdeletion and its associated deletion syndrome (22q11.2DS) is optimally made early. We reviewed the available literature to provide contemporary guidance and recommendations related to the prenatal period ...
N. Blagowidow, B. Nowakowska, Erica M. Schindewolf, F. Grati, Carolina Putotto, J. Breckpot, A. Swillen, T. Crowley, J. C. Loo, Lauren A Lairson, S. Óskarsdóttir, E. Boot, S. García-Miñaúr, Maria Cristina Digilio, B. Marino, Beverly G. Coleman, J. Moldenhauer, A. Bassett, D. McDonald-McGinn   +18 more
semanticscholar   +1 more source

Population-based impact of noninvasive prenatal screening on screening and diagnostic testing for fetal aneuploidy

Genetics in Medicine, 2017
Lisa Hui, A Poulton, Jane Halliday
exaly   +2 more sources

Detection rates of abnormalities in over 10,000 amniotic fluid samples at a single laboratory

BMC Pregnancy and Childbirth, 2023
Background A growing number of cytogenetic techniques have been used for prenatal diagnosis. This study aimed to demonstrate the usefulness of karyotyping, BACs-on-Beads (BoBs) assay and single nucleotide polymorphism (SNP) array in prenatal diagnosis ...
Sha Lu, Nisile Kakongoma, Wen-sheng Hu, Yan-zhen Zhang, Nan-nan Yang, Wen Zhang, Ai-fen Mao, Yi Liang, Zhi-fen Zhang   +8 more
doaj   +1 more source

Factors Affecting the Fetal Fraction in Noninvasive Prenatal Screening: A Review

Frontiers in Pediatrics, 2022
A paradigm shift in noninvasive prenatal screening has been made with the discovery of cell-free fetal DNA in maternal plasma. Noninvasive prenatal screening is primarily used to screen for fetal aneuploidies, and has been used globally.
Cechuan Deng, Sha Liu
semanticscholar   +1 more source

Deep Learning for Improving the Effectiveness of Routine Prenatal Screening for Major Congenital Heart Diseases

Journal of Clinical Medicine, 2022
Early prenatal screening with an ultrasound (US) can significantly lower newborn mortality caused by congenital heart diseases (CHDs). However, the need for expertise in fetal cardiologists and the high volume of screening cases limit the practically ...
S. Nurmaini, R. U. Partan, Nuswil Bernolian, Ade Iriani Sapitri, B. Tutuko, M. N. Rachmatullah, Annisa Darmawahyuni, Firdaus Firdaus, J. Mose   +8 more
semanticscholar   +1 more source