Non-Invasive Prenatal Testing (NIPT)
Non-Invasive Prenatal Testing (NIPT) is a new, innovative approach, which estimates the risk of presence of specific frequent genetic syndromes with greater reliability than conventional biochemical methods performed in blood of pregnant women. NIPT can identify the most common chromosomal abnormalities, namely Down’s syndrome (trisomy 21), Edwards’ syndrome (trisomy 18) and Patau’s syndrome (trisomy 13) and, on request, and for aneuploidies of the sex chromosomes (Turner’s syndrome (monosomy X), Klinefelter’s syndrome (XXY), triple X syndrome (XXX), as well as various microsomal syndromes (e. g. Di George). NIPT also offers the possibility of determining the sex of the fetus.
It is performed from the 10th week of pregnancy and ideally at the time of the cervical scan, so that the results are available to parents from the first trimester. In this way, parents have time to decide on their future actions based on the results. The results are available in 5-7 working days and there is no risk to the pregnancy, as the test involves taking approximately 10ml of peripheral blood from the mother, significantly reducing the stress on the parents.
NIPT is one of the safest, most reliable and affordable non-invasive prenatal tests available in the world today, providing the safest way to screen the fetus during pregnancy with a simple blood draw. NIPT can be used in singleton, twin and triplet pregnancies after 10 weeks, as well as in vitro fertilization (IVF) pregnancies. The results are available in 5-7 working days and because the test will complete from the first trimester, parents have time to do an invasive Prenatal Testing if NIPT has a high-risk result of a syndrome. Clinical studies have validated the reliability of results and demonstrated the superiority of NIPT over other non-invasive prenatal tests. NIPT has very high accuracy (>99%), provides rapid results and is very affordable. NIPT is a new generation of non-invasive prenatal screening with significantly higher accuracy (>99%) for detection of Down syndrome and no risk of fetal miscarriage. The detection rates are 97% and 92% respectively for trisomies 18 and 13 (Edwards and Patau syndromes). NIPT is completely safe for both the mother and the fetus as just a small amount of venous blood is taken from the mother. Therefore, it is no different from routine blood tests during pregnancy.
Indications for non-invasive prenatal testing are:
– Abnormal biochemical (PAPP-A) or ultrasound findings (e.g. cervical transparency, congenital anomalies)
– Prior pregnancy with a chromosomal abnormality
– Parental translocation
– Patients wanting early, accurate testing and are at average risk of aneuploidy
– Low risk pregnancies
– Preventive control. Anxiety about pregnancy.
Sample type: 10ml of peripheral blood from the mother
Time to obtain result: 5-7 working days
| PACKAGE NAME | INCLUDES |
| CLARITY | Risk assessment for: – Trisomies for chromosomes 13, 18, and 21 – Sex chromosome aneuploidies: Turner syndrome (XO), Triple X syndrome (XXX), Klinefelter syndrome (XXY), and Jacobs syndrome (XYY) – 8 microdeletion syndromes: 1p36 deletion syndrome, 2q33.1 deletion syndrome, Wolf-Hirschhorn, Cri du chat, Williams-Beuren, Jacobsen, Prader-Willi/Angelman, DiGeorge -Fetal sex determination |
| LITE | Risk assessment for: – Trisomies for chromosomes 13, 18, and 21 – Sex chromosome aneuploidies: Turner syndrome (XO), Triple X syndrome (XXX), Klinefelter syndrome (XXY), and Jacobs syndrome (XYY) -Fetal sex determination |
| BASIC | Risk assessment for: – Trisomies for all autosomal chromosomes (1 to 22) – Sex chromosome aneuploidies: Turner syndrome (XO), Triple X syndrome (XXX), Klinefelter syndrome (XXY), and Jacobs syndrome (XYY) -Fetal sex determination |
| PREMIUM | Risk assessment for: – Trisomies for all autosomal chromosomes (1 to 22) – Monosomies for all autosomal chromosomes (1 to 22) – Sex chromosome aneuploidies: Turner syndrome (XO), Triple X syndrome (XXX), Klinefelter syndrome (XXY), and Jacobs syndrome (XYY) – 140 chromosomal microdeletions and microduplications associated with known syndromes – Microdeletions and microduplications larger than 7 megabases, across all chromosomes -Fetal sex determination |
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