Chromosomal anomalies account for 26 per cent of total childhood disability rate in Kazakhstan
Until recent times, first prenatal screening has remained the only method to study common fetal chromosomal abnormalities. It implies the analysis of biochemical and ultrasound markers.
Invasive prenatal diagnostics (chorionic villus biopsy, amniotic fluid sampling, cord blood for testing) is traditionally proposed as a diagnosis second stage (additional examination) for high-risk pregnant women, but it should be remembered that this approach is associated with a certain risk of complications (infection, spontaneous abortion, hemorrhage) and should be used if medically required.
OLYMPE CDL offers Non-Invasive Prenatal Test (NIPT) as the most modern method for assessing the risk of chromosomal abnormalities in the fetus.
The benefits of the test imply studying fetal extracellular DNA, which can be detected in mother's blood from the 10th week of pregnancy. The test does not require intrauterine intervention, i.e. it is non-invasive and therefore safe absolutely.
The test has a higher prognostic value (99%) than traditional first prenatal screening. It allows to clearly differentiate a cohort of high-risk pregnant women who are prescribed further monitoring by Geneticist and additional examination with the use invasive diagnostic approaches.
The following non-invasive prenatal diagnostics options are currently available in the OLYMP CDL:
NIPT T21 for Down syndrome:
- The test aims to assess the risk of trisomy 21 (Down syndrome)
Base Panel NIPT:
- Trisomy 21 (Down syndrome)
- Trisomy 18 (Edwards’ syndrome)
- Trisomy 13 (Patau syndrome)
Standard Panel NIPT:
- Base Panel NIPT + sex chromosomal aneuploidy:
- X monosomy (Shereshevsky-Turner syndrome)
- X trisomy (XXX syndrome)
- X disomy (Klinefelter syndrome)
- Y disomy (Jacobs syndrome)
NIPT Extended Panel:
- Standard Panel NIPT + microdeletion syndromes:
- 22q11.2 microdeletion (DiGeorgi syndrome)
- 1p36 microdeletion (1p36 syndrome)
- 15q11-13 microdeletion (Prader Willi/Angelman Syndrome)
- 4р16.3 microdeletion (Wolff-Hirschhorn Syndrome)
- 5р15 microdeletion (cat’s cry syndrome)
Extended panel also provides an opportunity to establish the carrier status of 18 frequent autosomal recessive mutations in the mother in the following genes: CFTR, PAH, GALT, GJB2, SLC26A4, TPP1, ATP7B, DARS2, DHCR7, HEXA, IDUA, PIGN, PKHD1, PMM2, SLC26A2, USH2A, SMARCAL1, ALDOB.
Biomaterial: Venous blood of the mother, it can be taken after 10 weeks of gestation.
Results readiness time: 8-10 working days.
Analysis preparation rules: No special preparation is required.