Non-invasive prenatal screening for Emanuel syndrome

P-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...

Non-invasive prenatal diagnosis of Down's syndrome.

Down syndrome (trisomy 21), which has an incidence of 1 in 800 live births, is considered to be the most frequent etiology of mental retardation and it is the predominant reason for women seeking prenatal diagnosis [Driscoll & Gross, 2009]. Trisomy 21 is used as a benchmark because it is the most common aneuploidy compatible with life and is associated with mental retardation and serious congen...

Non Invasive Prenatal Diagnosis of Down Syndrome

Clinical experience with single‐nucleotide polymorphism‐based non‐invasive prenatal screening for 22q11.2 deletion syndrome

OBJECTIVES To evaluate the performance of a single-nucleotide polymorphism (SNP)-based non-invasive prenatal test (NIPT) for the detection of fetal 22q11.2 deletion syndrome in clinical practice, assess clinical follow-up and review patient choices for women with high-risk results. METHODS In this study, 21 948 samples were submitted for screening for 22q11.2 deletion syndrome using a SNP-bas...

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...