In Lithuania, as in the rest of the world, genetic testing is recommended for all expectant mothers. One such test is particularly advanced – a highly accurate, next-generation non-invasive prenatal test (NIPT).
From as early as the 10th week of pregnancy, NIPT assesses with up to 99.9% accuracy: the risk of Down’s syndrome (trisomy 21), Edwards’ syndrome (trisomy 18), and Patau’s syndrome (trisomy 13), sex chromosome number variations, the risk of aneuploidy across all chromosomes (whole karyotype testing), the risk of changes in the number of DNA fragments in all autosomes, i.e., macrodeletions and duplications (>7 Mb in size), as well as monogenic (caused by a single gene change) diseases.
It is recommended to perform NIPT from the 10th week of pregnancy, when there is a sufficient amount of fetal genetic material in the mother’s blood to provide accurate test results. The test is non-invasive and is carried out using a maternal venous blood sample. Fetal DNA is extracted from the blood sample and analysed for chromosomal number variations and subchromosomal abnormalities. Test results are usually available within 3-8 working days.
The NIPT test is suitable for singleton pregnancies, twin pregnancies, or in the case of a vanishing twin. Non-invasive prenatal testing is suitable both for natural conception and following assisted conception procedures, which are considered risk factors for increased fetal abnormalities. NIPT can also be performed following a miscarriage (from 5 weeks) to determine whether fetal genetic abnormalities played a role.
During NIPT, the sex of the baby can also be determined with complete accuracy, if requested. In twin pregnancies, the test detects the presence of sex chromosomes (X or Y chromosome). If only the X chromosome is detected, it confirms that both twins are female; if the Y chromosome is detected, it confirms that at least one fetus is male. It is important to note that when undergoing NIPT, parents have the right to choose whether they wish to find out the sex of their baby.
Before undergoing NIPT, an ultrasound scan is always recommended so that the doctor can determine the development of the pregnancy, the number of fetuses, and evaluate other important aspects.
For more information, tel. 8-616 00300; tyrimai@placenta.lt; www.placenta.lt
To register, tel. +370 5 234 2020.
