scholarly journals VP08.02: Noonan syndrome screening by non‐invasive prenatal testing for single‐gene disorders

2020 ◽  
Vol 56 (S1) ◽  
pp. 81-81
Author(s):  
P. Benn ◽  
P. Mohan ◽  
S. Krinshpun ◽  
J. Lemoine
Keyword(s):  
Noonan Syndrome ◽  
Single Gene ◽  
Prenatal Testing ◽  
Non Invasive ◽  
Single Gene Disorders

RECENT DEVELOPMENTS IN NON-INVASIVE PRENATAL DIAGNOSIS AND TESTING

2014 ◽  
Vol 25 (3-4) ◽  
pp. 295-317 ◽  
Author(s):  
SUZANNE DRURY ◽  
MELISSA HILL ◽  
LYN S CHITTY
Keyword(s):  
Single Gene ◽  
Genetic Diagnosis ◽  
Prenatal Testing ◽  
Maternal Plasma ◽  
Non Invasive ◽  
Invasive Test ◽  
Single Gene Disorders ◽  
Cell Free Fetal Dna ◽  
Recent Developments ◽  
Next Generation Sequencing Ngs

The ability to obtain fetal material that could be used for prenatal genetic diagnosis without requirement for an invasive test was a watershed moment in antenatal care. Cell-free fetal DNA (cffDNA) was identified in the maternal plasma by Lo and colleagues in 19971and despite being technically challenging, non-invasive tests for fetal sex determination, fetal rhesus D (RHD) genotyping, some single gene disorders and the major aneuploidies are now being offered in clinical practice throughout the world2. Progress continues at pace and recent developments in next generation sequencing (NGS) are driving significant advances in research and in the clinical application of non-invasive prenatal testing (NIPT) and diagnosis (NIPD) (Table 1).

scholarly journals Non-invasive prenatal testing for single gene disorders: exploring the ethics

2012 ◽  
Vol 21 (7) ◽  
pp. 713-718 ◽  
Author(s):  
Zuzana Deans ◽  
Melissa Hill ◽  
Lyn S Chitty ◽  
Celine Lewis
Keyword(s):  
Single Gene ◽  
Prenatal Testing ◽  
Non Invasive ◽  
Single Gene Disorders

scholarly journals PREIMPLANTATION GENETIC TESTING: Non-invasive prenatal testing for aneuploidy, copy-number variants and single-gene disorders

Reproduction ◽  
2020 ◽  
Vol 160 (5) ◽  
pp. A1-A11
Author(s):  
J Shaw ◽  
E Scotchman ◽  
N Chandler ◽  
L S Chitty
Keyword(s):  
Copy Number ◽  
Sex Chromosome ◽  
Single Gene ◽  
Copy Number Variants ◽  
Prenatal Testing ◽  
Aneuploidy Screening ◽  
Preimplantation Genetic Testing ◽  
Non Invasive ◽  
Single Gene Disorders ◽  
Cell Free Fetal Dna

The discovery of cell-free fetal DNA (cffDNA) in maternal plasma has enabled a paradigm shift in prenatal testing, allowing for safer, earlier detection of genetic conditions of the fetus. Non-invasive prenatal testing (NIPT) for fetal aneuploidies has provided an alternative, highly efficient approach to first-trimester aneuploidy screening, and since its inception has been rapidly adopted worldwide. Due to the genome-wide nature of some NIPT protocols, the commercial sector has widened the scope of cell-free DNA (cfDNA) screening to include sex chromosome aneuploidies, rare autosomal trisomies and sub-microscopic copy-number variants. These developments may be marketed as ‘expanded NIPT’ or ‘NIPT Plus’ and bring with them a plethora of ethical and practical considerations. Concurrently, cfDNA tests for single-gene disorders, termed non-invasive prenatal diagnosis (NIPD), have been developed for an increasing array of conditions but are less widely available. Despite the fact that all these tests utilise the same biomarker, cfDNA, there is considerable variation in key parameters such as sensitivity, specificity and positive predictive value depending on what the test is for. The distinction between diagnostics and screening has become blurred, and there is a clear need for the education of physicians and patients regarding the technical capabilities and limitations of these different forms of testing. Furthermore, there is a requirement for consistent guidelines that apply across health sectors, both public and commercial, to ensure that tests are validated and robust and that careful and appropriate pre-test and post-test counselling is provided by professionals who understand the tests offered.

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 A novel high-throughput molecular counting method with single base-pair resolution enables accurate single-gene NIPT

2019 ◽  
Vol 9 (1) ◽  
Author(s):  
David S. Tsao ◽  
Sukrit Silas ◽  
Brian P. Landry ◽  
Nelda P. Itzep ◽  
Amy B. Nguyen ◽  
...  
Keyword(s):  
Muscular Atrophy ◽  
Single Gene ◽  
Prenatal Testing ◽  
Maternal Blood ◽  
Beta Thalassemia ◽  
Analytical Sensitivity ◽  
Dna Molecules ◽  
Sequencing Data ◽  
Non Invasive ◽  
Single Base Pair

Abstract Next-generation DNA sequencing is currently limited by an inability to accurately count the number of input DNA molecules. Molecular counting is particularly needed when accurate quantification is required for diagnostic purposes, such as in single gene non-invasive prenatal testing (sgNIPT) and liquid biopsy. We developed Quantitative Counting Template (QCT) molecular counting to reconstruct the number of input DNA molecules using sequencing data. We then used QCT molecular counting to develop sgNIPTs of sickle cell disease, cystic fibrosis, spinal muscular atrophy, alpha-thalassemia, and beta-thalassemia. The analytical sensitivity and specificity of sgNIPT was >98% and >99%, respectively. Validation of sgNIPTs was further performed with maternal blood samples collected during pregnancy, and sgNIPTs were 100% concordant with newborn follow-up.

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
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