Identification of Structural Variation from NGS-Based Non-Invasive Prenatal Testing
نویسندگان
چکیده
منابع مشابه
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...
متن کاملThe 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...
متن کاملDiagnosis for choroideremia in a large Chinese pedigree by next-generation sequencing (NGS) and non-invasive prenatal testing (NIPT)
To develop an effective strategy to isolate and use cell‑free fetal DNA (cffDNA) for the combined use of next‑generation sequencing (NGS) for diagnosing choroideremia and non‑invasive prenatal testing (NIPT) for Y chromosome determination, a large Chinese family with an X‑linked recessive disease, choroideremia, was recruited. Cell‑free DNA was extracted from maternal plasma, and SRY polymerase...
متن کاملFactors Affecting the Clinical Use of Non-Invasive Prenatal Testing
Non-invasive prenatal testing (NIPT) is a technique first developed in the early 1990’s that enables testing of a fetus for genetic conditions, based on a sample of maternal blood [1]. Small fragments of extracellular DNA from both mother and fetus are present in maternal plasma, and by excluding fragments of maternal origin, the fetus can be tested for sex, aneuploidy and some specific genetic...
متن کاملAneuploidy 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: International Journal of Molecular Sciences
سال: 2019
ISSN: 1422-0067
DOI: 10.3390/ijms20184403