Non-invasive genetic testing (Prenatest / NIPT)

TheIVMEDclinic performs a safe and accurate genetic test of the fetus at an early stage of pregnancy – a non-invasive prenatal test (NIPT). Thanks to this examination, you can make sure that your unborn child does not have Down syndrome and other chromosomal abnormalities, as well as find out the sex of the baby.

NRT is recommended:

• if the pregnant woman is over 35 years old and the future father of the child is over 40 years old;
• one or both spouses have chromosomal diseases;
• if the ultrasound showed a high risk of chromosomal abnormalities in the fetus;
• the spouse’s relatives had chromosomal diseases;
• the future mother had episodes of spontaneous abortion in her history;
• if a woman has had a disease during pregnancy.

Not recommended:

• in case of multiple pregnancy (more than 3 fetuses).
• NIPT defines: Down syndrome, Patau syndrome, Edwards syndrome, Turner syndrome, trisomies on the X chromosome, Klinefelter syndrome, Jacobs syndrome, Shereshevsky-Turner syndrome, and the child’s gender.

NRT is effective:

• in case of pregnancy as a result of IVF + ICSI;
• in the case of surrogacy;
• in pregnancy after IVF with oocyte donation;
• in case of twin pregnancy;
• after undergoing stem cell treatment or bone marrow transplantation.

NRT is not effective:

• in case of multiple pregnancy (more than 2 fetuses);
• after the reduction of the second embryo;
• in the case of the “missing twin” syndrome.

In the United States and European countries, NRT is included in the list of mandatory examinations for pregnant women.

Features of the non-invasive prenatal test

• 100% – absolute safety for the fetus (for diagnosis, it is enough to take blood from a vein in a pregnant woman);
• 99.99% – the highest diagnostic accuracy for chromosomal abnormalities (for comparison, double and triple prenatal screening is estimated to be up to 70-80% accurate);
• NRT can be performed from the 9th week of pregnancy;
• 20 ml of venous blood of the expectant mother is enough for the test;
• the results are ready within 10 calendar days from the date of receipt by the laboratory.

Stages of a non-invasive prenatal test

1. Collection of material for research. The material for the study is blood from a vein of a pregnant woman. The test can be taken at any time of the day (not necessarily in the morning), and you can eat beforehand. No special diet is required before the study. A medical worker in the manipulation room takes blood from a vein into 2 tubes of 10 ml each using a disposable sterile system.
2. The blood is delivered to the laboratory in tubes with a special preservative that preserves the stability of freely circulating DNA.
3. Centrifugation separates the blood into the formed elements (blood cells) and plasma, from which free circulating DNA is then obtained.
4. The percentage of freely circulating DNA is determined. For a singleton pregnancy, the ratio of fetal DNA to maternal DNA is required to be at least 4%, and for a twin pregnancy – at least 8%.
5. DNA sequencing is performed using the NGS method.
6. Bioinformatic analysis is performed. It is determined whether the number of DNA sequences for a particular chromosome exceeds the expected number for a euploid (normal) genome. The obtained data is organized according to the chromosomes to which it relates.
7. The results of the analysis are interpreted by specialists and provided to the patient in the form of a report. The results of NRT are evaluated by the attending physician, who takes into account the woman’s age and medical history and makes a conclusion about the degree of risk (low or high).

Repeated NST may be required if:

• of fetal DNA was less than 4% (this amount is not enough for research);
• the pregnant woman’s body weight exceeds the norm;
• missing NRTI result (cases when the laboratory does not receive enough information from the patient’s blood sample are extremely rare).
• A non-invasive prenatal test at theIVMEDclinic will provide important information about your pregnancy at an early stage. Thanks to the use of advanced genetic research methods, NIPT can detect a wide range of chromosomal pathologies (chromosomal abnormalities, aneuploidies of sex chromosomes, microdeletions). You can also find out the sex of your baby if you wish.