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Showing 1 to 9 of 9 for “"Non-Invasive Prenatal Testing (NIPT)"”.
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Cell-free fetal DNA (cffDNA) enrichment for non-invasive prenatal testing (NIPT): a comparison of molecular techniques
Prenatal assessment of fetal health is routinely offered throughout pregnancy to ensure that the most effective management can be provided to maintain fetal and maternal well-being. Currently, invasive testing is used for definitive diagnosis of fetal aneuploidy, which is associated with a 1% risk …
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Patient Perception of Negative Non-Invasive Prenatal Testing Results
<p>Non-invasive prenatal testing (NIPT) uses cell-free fetal DNA to assess for fetal aneuploidy during pregnancy. NIPT has higher detection rates and positive predictive values than previous methods; however, NIPT is not diagnostic. Studies suggest patients may underestimate the limitations of …
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Nipt Results Indicative of Maternal Neoplasms: Genetic Counselors' Preferences and Attitudes
<p>Performing non-invasive prenatal testing (NIPT) on a pregnant woman with a chromosomally abnormal neoplasm may incidentally lead to the diagnosis of cancer due to the coexistence of circulating tumor and placental DNA. Published information regarding NIPT’s accuracy for neoplasm screening is …
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Current Genetic Counseling Practice Following Positive Non-Invasive Prenatal Testing For Sex Chromosome Abnormalities
… purpose of this study was to describe current prenatal and pediatric genetic counseling practice following a non-invasive prenatal testing (NIPT) result positive for a sex chromosome abnormality (SCA). The positive predictive value for SCA with NIPT is lower than seen for Trisomy 21 due to …
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Anchoring and Uptake of Non-Invasive Prenatal Testing In The First and Second Trimester
<p>Non-invasive prenatal testing (NIPT) is a highly sensitive and specific screen for common aneuploidies that eliminates the risk of miscarriage that diagnostic tests carry. It is unclear how this new prenatal option will impact pregnant women’s decision making process. Women undergoing genetic …
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Patient Understanding of Fetal Sex Versus Gender in the Context of Routine Cell-Free DNA Screening
<p>Non-invasive prenatal testing (NIPT) is the current standard of care to screen for fetal aneuploidy using cell-free DNA (cfDNA). NIPT screens for sex chromosome aneuploidies (SCAs) and in doing so, can predict fetal chromosomal sex. Despite sex and gender being distinct concepts, many patients …
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Genetic Counselors' Experiences With and Approaches to Discordant Genotypic and Phenotypic Sex Detected Via Non-Invasive Prenatal Testing
<p>As the use of non-invasive prenatal testing becomes more ubiquitous during pregnancy, genetic counselors (GCs) will see clients more frequently for discordant sex identification via non-invasive prenatal testing (NIPT-DSI). Thus, it is imperative to investigate what GCs consider important when …
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Attitudes to ward and Utilization of Non-Invasive Prenatal Testing For Chromosome Aneuploidy Among Ob/Gyns
<p>Prenatal diagnosis is traditionally made via invasive procedures such as amniocentesis and chorionic villus sampling (CVS). However, both procedures carry a risk of complications, including miscarriage. Many groups have spent years searching for a way to diagnose a chromosome aneuploidy without …
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Molecular Pathology: Potential Biomarkers For The Detection Of Down Syndrome Pregnancies
… (DS), also called trisomy 21, is the most common non- lethal fetal aneuploidy that affects 1 in 800 live births. The disease appears mostly due to the existence of an extra copy of chromosome 21. In the UK, the screening of DS is offered to all pregnant women in the antena- tal care program to …