Taking blood from an expectant mother since the 10th week of gestation
Non-invasive prenatal testing NIPT 8, NIPT 6, NIPT 3
Timeframe
The accuracy of NIPT
Gestation period
Across Georgia
Pros of the non-invasive prenatal testing
No risk
The non-invasive technique of prenatal testing is secure for the mother and future child, in contrast to invasive techniques of prenatal testing.
Quick
The non-invasive prenatal testing is one of the quickest tests available, the results are obtained in just 10 business days from the date of the sample receipt.
Reliable
The non-invasive prenatal testing has a high sensitivity of about 99% for the identification of trisomies 21, 13, 18.
NIPT 3
Reveals the risk of 3 syndromes
Down syndrome
Edwards syndrome
Patau syndrome
Turner syndrome
Trisomy-X
Klinefelter syndrome
Jacobs syndrome (disomy – Y)
XXYY syndrome
NIPT 6
Reveals the risk of 6 syndromes
Down syndrome
Edwards syndrome
Patau syndrome
Turner syndrome
Trisomy-X
Klinefelter syndrome
Jacobs syndrome (disomy – Y)
XXYY syndrome
NIPT 8
Reveals the risk of 8 syndromes
Down syndrome
Edwards syndrome
Patau syndrome
Turner syndrome
Trisomy-X
Klinefelter syndrome
Jacobs syndrome (disomy – Y)
XXYY syndrome
Non-Invasive Prenatal Test NIPT 8, NIPT 6, NIPT 3
The Non-Invasive Prenatal Test (NIPT) is a genetic testing technique to calculate the risk of having a child with specific chromosomal pathologies.
In the period of gestation, the DNA of the fetus circulates in the blood of a woman. Using the mother`s blood, since as early as the 10th week of pregnancy, with the help of NIPT, it is possible to extract the DNA of the fetus and analyze it for the presence of prevalent chromosomal disorders such as Down syndrome, Patau syndrome, Edwards and abnormalities of sex chromosomes.
Within the State Healthcare Program, pregnant women screening among them includes ultrasound research and biochemical analysis, up to the 13th week of gestation. But in contrast to NIPT, this testing is insufficiently accurate, due to the fact that the risk is calculated depending on biochemical markers, ultrasound and anamnesis data. NIPT directly assesses the DNA of the fetus and therefore has high accuracy.
NIPT requires no intervention into the organism, making the non-invasive test harmless, very convenient and easy-to-use. Another benefit of NIPT is its high sensitivity (99% approximately for 21, 13, 18 pairs of chromosomes). NIPT can be conducted since the 10th week of gestation and does not need any specific preparation for biomaterial sampling.
- All pregnant women who would like to recieve more data about the health of the unborn baby
- If the age of the expectant mother is more than 35 years
- If screening of the 1st or the 2nd trimester showed a high risk of chromosomal abnormality
- If there are contraindications to invasive methods (threat of pregnancy loss, fever, infections, tendency to bleed)
- Down syndrome, Edwards syndrome, Patau syndrome or other chromosomal abnormalities during previous pregnancies
- There have been cases of antenatal/intranatal fetal death, miscarriage
Shipping of the tube to the laboratory
NIPT performance (extraction of the fetal DNA, sequencing, bioinformatics data analysis)
Testing result
NIPT routinely analyzes the chromosomes that can make it possible to develop pregnancies more than 16 −18 weeks and result in having a child with severe malformations.
They comprise:
- trisomy 21 (Down syndrome),
- trisomy 18 (Edwards syndrome),
- trisomy 13 (Patau syndrome).
NIPT is characterized by a fairly high accuracy, that differs depending on the examined chromosomes.
Besides testing for the most frequent syndromes: Down, Edwards, Patau, NIPT also examines the X and Y chromosomes, and makes it possible to detect the foetal abnormalities associated with their disturbance:
- XO — X — Turner monosomy syndrome,
- XXX — triple X syndrome,
- XXY — Klinefelter syndrome,
- XYY — Jacobs syndrome,
- XXYY syndrome.
Aneuploidy
Trisomy 21 (Down syndrome)
Trisomy 18 (Edwards syndrome)
Trisomy 13 (Patau syndrome)
Sensitivity
99.17%
98.24%
100%
Specificity
99.95%
99.95%
96.96%
PPV
92.19%
76.61%
32.84%
A positive predictive value (PPV) is the ratio of truly positive test results.
The non-invasive prenatal testing is to evaluate the risks for the most frequent chromosomal abnormalities.
The prenatal testing report includes an accurate, simplly interpreted result about the presence of a high or low risk level of chromosomal abnormality.
Low risk level
There is no chromosomal abnormality with an accuracy of more than 99%.
High-risk level
There is a high risk of a chromosomal pathology. All high-risk level results must be later confirmed by invasive techniques (chorion biopsy, amniocentesis) to avoid a false positive result.
No result
In case when the level of placental DNA in the sample is less than 3.5%, then one more sampling may be needed, as a low fraction of fetal DNA is probably able to cause a false negative result.
The screening is not performed in cases of:
- gestational age less than 10 weeks at the moment of taking blood for analysis;
- cancer;
- transplantation of organ or bone marrow, stem cell therapy;
- allogeneic blood transfusion for the past year;
- human serum albumin and/or exogenous DNA cells treatment for the last month;
- heparin treatment for the last 24 hours before taking blood;
- the death of one of the fetuses in multiple pregnancy (earlier than 8 weeks after the discovery of a frozen fetus);
- multifetal pregnancy (more than 2 fetuses);
- pregnancy of 2 fetuses with the use of donor programs (donor eggs, surrogacy).
Experts
Аccumulated experience and knowledge in genetics, laboratory diagnostics and bioinformatics
Privacy
All data is strictly confidential and cannot be shared with third parties.
Consultation
Possibility of online consultation on the results of the study
Reliability
Quality control at each stage of the study
Free shipping
Delivery of biomaterial throughout Georgia