Non-invasive prenatal aneuploidy testing: Critical diagnostic performance parameters predict sample z-score values
نویسندگان
چکیده
منابع مشابه
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...
متن کاملInvasive 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...
متن کاملNon-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 کاملSample Specific Fetal Fraction Threshold for Non-Invasive Prenatal Testing
SNR separates meaningful information (signal) from background information (noise). In statistical applications of SNR, signal is equivalent to a random variable expectation, and noise is equivalent to its variance. Here, cell-free DNA material (containing both maternal and fetal DNA) from pregnant plasma is tested for detection of genomic events in fetal DNA. The fractional fetal DNA in a sampl...
متن کاملNon-Invasive Prenatal Chromosomal Aneuploidy Testing - Clinical Experience: 100,000 Clinical Samples
OBJECTIVE As the first laboratory to offer massively parallel sequencing-based noninvasive prenatal testing (NIPT) for fetal aneuploidies, Sequenom Laboratories has been able to collect the largest clinical population experience data to date, including >100,000 clinical samples from all 50 U.S. states and 13 other countries. The objective of this study is to give a robust clinical picture of th...
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ژورنال
عنوان ژورنال: Clinical Biochemistry
سال: 2018
ISSN: 0009-9120
DOI: 10.1016/j.clinbiochem.2018.06.015