N 3 (188) 2024. P. 65–71

NON-INVASIVE PRENATAL TESTING (NIPT) AS A MORDEN METHOD OF PRENATAL SCREENING (A LITERATURE REVIEW)

Yu. I. Bazhora, M. M. Chesnokova, A. V. Shevelenkova, S. V. Matviyuk, K. V. Ostapchuk

Odesa National Medical University, Odesa, Ukraine
Regional Children’s Clinical Hospital, Odesa, Ukraine

DOI 10.32782/2226-2008-2024-3-11

Introduction. Non-invasive prenatal testing (NIPT), which is based on the examination of cell-free fetal DNA (cffDNA) in the blood of a pregnant woman, is an important addition to prenatal screening tests for chromosomal abnormalities. When used correctly, the test increases the probability of detecting chromosomal pathology in the fetus and, at the same time, reduces the number of invasive tests.

The research purpose is to summarize literature data on the principle of cffDNA testing for prenatal screening of chromosomal pathology.

Methods. Analysis of scientific publications in international electronic scientometric databases over the last 10 years.

Research and discussion. The analyses of characteristics of cffDNA, the principles of a non-invasive prenatal test (NIPT), its sensitivity, specifics, and the expected positive predictive value in relation to chromosomal diseases were performed. The algorithms for using NIPT in different countries were analysed. Testing of cffDNA is recommended from the 10th week of gestation throughout pregnancy. NIPT is used as a screening test and requires conformation of positive results by invasive methods. In a number of countries, it is included in state prenatal screening programs as a first- or second-line test. In Ukraine, the test is offered by private laboratories at the patients’ own expense. The NIPT use requires the elaboration of own or adaptation of existing guidelines following the algorithm of the method’s application and interpretation of test results.

Key words: cell-free fetal DNA, non-invasive prenatal test, NIPT, prenatal screening for chromosomal aneuploidy, NIPT implementation.

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