Detection of fetal copy number variants by non-invasive prenatal testing for common aneuploidies
نویسندگان
چکیده
منابع مشابه
Secondary findings from non-invasive prenatal testing for common fetal aneuploidies by whole genome sequencing as a clinical service.
OBJECTIVE To report secondary or additional findings arising from introduction of non-invasive prenatal testing (NIPT) for aneuploidy by whole genome sequencing as a clinical service. METHODS Five cases with secondary findings were reviewed. RESULTS In Case 1, NIPT revealed a large duplication in chromosome 18p, which was supported by arrayCGH of amniocyte DNA, with final karyotype showing ...
متن کاملNon-invasive prenatal testing for fetal aneuploidies in the first trimester of pregnancy.
OBJECTIVES To evaluate the feasibility of non-invasive prenatal testing (NIPT) of maternal plasma samples collected from pregnant Chinese women in early gestation, between 8 + 0 and 12 + 6 weeks' gestation. METHODS In this pilot study, 212 women with high-risk pregnancies were recruited at a single Chinese Hospital. Fetal aneuploidies associated with chromosomes 21, 18, 13, X and Y were detec...
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 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 کاملP-226: Non-Invasive Prenatal Screening for Fetal Chromosomal Anomalies in South of Iran
Background: Prenatal diagnosis for Fetal Chromosomal anomalies currently relies on assessment of risk followed by a combination of biochemical and nuchal translucency. Trisomy 21 is the most common trisomy that is associated with intellectual disability. Pregnant women who receive a prenatal diagnosis of trisomy 21 currently have the option of continuing or terminating their pregnancy, but no f...
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ژورنال
عنوان ژورنال: Ultrasound in Obstetrics & Gynecology
سال: 2016
ISSN: 0960-7692
DOI: 10.1002/uog.14911