NIPT

Service Description

Non Invasive prenatal screening (NIPT), is the first-line screening test globally recommended for detecting common chromosomal abnormalities in fetus such as trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), and trisomy 13 (Patau syndrome)from the cell-free DNA present in the maternal blood sample, passed from placenta. On an average ~10% of the circulating cell free DNA is found in the maternal blood. NIPT is a screening can be done as early as at 10 weeks of gestation. NIPT TEST SCREEN FOR GENETIC ABNORMALITIES IN THE FETUS -Autosomal Chromosome Aneuploidies -Trisomy 21 (Down syndrome) -Trisomy 18 (Edwards syndrome) -Trisomy 13 (Patau syndrome) -Sex Chromosome Aneuploidies -Monosomy XO (Turner syndrome) -XXY syndrome (Klinefelter syndrome) -XYY syndrome (Jacob's syndrome) -Microdeletions -22q11.2 deletion (DiGeorge or velocardiofacial [VCFS] syndrome -1p36 deletion -Angelman syndrome -Prader-Willi WHEN IS NIPT RECOMMENDED -Advanced maternal age(<30) -Any Abnormalities found in NT scan, Ultrasound scan, Nasal bone absent -Any Abnormal biochemical marker results(AFP, bHCG, PAPP-A) -Family history of genetic disorders -History of a prior pregnancy with a trisomy -Couple with history of infertility or pregnancy loss(miscarriages or stillbirths) Sample type: Maternal Blood (Streck tube) TAT: 2-3 weeks

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