scholarly journals OC05.02: Clinical experience with non‐invasive prenatal screening for single gene disorders

2021 ◽  
Vol 58 (S1) ◽  
pp. 14-15
Author(s):  
P. Mohan ◽  
J. Lemoine ◽  
C. Trotter ◽  
I. Rakova ◽  
P. Billings ◽  
...  
Keyword(s):  
Clinical Experience ◽  
Prenatal Screening ◽  
Single Gene ◽  
Non Invasive ◽  
Single Gene Disorders

scholarly journals Recent advances in prenatal genetic screening and testing

F1000Research ◽  
2016 ◽  
Vol 5 ◽  
pp. 2591 ◽  
Author(s):  
Ignatia B. Van den Veyver
Keyword(s):  
New Technologies ◽  
Single Gene ◽  
Chorionic Villus ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Chorionic Villus Sampling ◽  
Non Invasive ◽  
Single Gene Disorders ◽  
Whole Exome ◽  
Cell Free Fetal Dna

The introduction of new technologies has dramatically changed the current practice of prenatal screening and testing for genetic abnormalities in the fetus. Expanded carrier screening panels and non-invasive cell-free fetal DNA-based screening for aneuploidy and single-gene disorders, and more recently for subchromosomal abnormalities, have been introduced into prenatal care. More recently introduced technologies such as chromosomal microarray analysis and whole-exome sequencing can diagnose more genetic conditions on samples obtained through amniocentesis or chorionic villus sampling, including many disorders that cannot be screened for non-invasively. All of these options have benefits and limitations, and genetic counseling has become increasingly complex for providers who are responsible for guiding patients in their decisions about screening and testing before and during pregnancy.

scholarly journals Non‐invasive prenatal diagnosis (NIPD) for single gene disorders: cost analysis of NIPD and invasive testing pathways

2016 ◽  
Vol 36 (7) ◽  
pp. 636-642 ◽  
Author(s):  
Talitha I. Verhoef ◽  
Melissa Hill ◽  
Suzanne Drury ◽  
Sarah Mason ◽  
Lucy Jenkins ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Cost Analysis ◽  
Single Gene ◽  
Non Invasive ◽  
Single Gene Disorders

Non-invasive prenatal diagnosis of single-gene disorders from maternal blood

Gene ◽  
2012 ◽  
Vol 504 (1) ◽  
pp. 144-149 ◽  
Author(s):  
Ana Bustamante-Aragonés ◽  
Marta Rodríguez de Alba ◽  
Sara Perlado ◽  
María José Trujillo-Tiebas ◽  
Javier Plaza Arranz ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Single Gene ◽  
Maternal Blood ◽  
Non Invasive ◽  
Single Gene Disorders

Non-invasive prenatal diagnosis for single gene disorders: experience of patients

2013 ◽  
Vol 85 (4) ◽  
pp. 336-342 ◽  
Author(s):  
C. Lewis ◽  
M. Hill ◽  
L.S. Chitty
Keyword(s):  
Prenatal Diagnosis ◽  
Single Gene ◽  
Non Invasive ◽  
Single Gene Disorders
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