Ethics Case: When is Non - Invasive Prenatal Diagnostic Testing Beneficial?Ethics Case: When is Non - Invasive Prenatal Diagnostic Testing Beneficial?

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Invasive Prenatal (Fetal) Diagnostic Testing

Single-Gene Disorders Invasive diagnostic prenatal (fetal) testing for molecular analysis for single-gene disorders may be considered medically necessary when a pregnancy has been identified as being at high risk: 1. For autosomal dominant conditions, at least 1 of the parents has a known pathogenic mutation. 2. For autosomal recessive conditions: a. Both parents are suspected to be carriers or...

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Non-invasive prenatal testing.

BACKGROUND Non-invasive prenatal testing (NIPT), also known as cell-free DNA testing and non-invasive prenatal screening (NIPS), is an important addition to the range of screening tests for fetal chromosomal abnormalities. For trisomy 21 in particular, NIPT is superior to other screening modalities. However, NIPT has limitations and complexities that requesting clinicians and their patients sho...

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Performance of non-invasive prenatal testing when fetal cell-free DNA is absent

Numerous studies have validated the accuracy of non-invasive prenatal testing (NIPT) using fetal cell-free DNA (cfDNA) to assess the risk of fetal aneuploidies early in pregnancy1, and we have used this technology in our practice since 2012 in both lowand high-risk women2. We are aware that several factors influence the fraction of fetal cfDNA present in maternal blood. Such factors include ges...

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The Evolution of Prenatal Diagnosis from Invasive Procedures to Non-invasive Prenatal Testing (NIPT)

Yuval Yaron1,2,*, and Rachel Michaelson-Cohen3,4 1Prenatal Genetic Diagnosis Unit, Genetic Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel 2Sackler Faculty of Medicine, Tel Aviv University, Israel 3Department of Obstetrics & Gynecology, Shaare Zedek Medical Center, Hebrew University of Jerusalem, Israel 4Medical Genetics Institute, Shaare Zedek Medical Center, Hebrew University of...

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Aneuploidy screening by non‐invasive prenatal testing in twin pregnancy

OBJECTIVES To describe our experience with non-invasive prenatal testing (NIPT) in twin pregnancy. METHODS Two sets of maternal blood samples from twin pregnancies were analyzed at our laboratory using NIPT: 115 stored samples from pregnancies with known outcome (Clinical Study A) and 487 prospectively collected samples for which outcomes were requested from providers (Clinical Study B). NIPT...

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ژورنال

عنوان ژورنال: Open Access Journal of Gynecology

سال: 2017

ISSN: 2474-9230

DOI: 10.23880/oajg-16000s3-003