Benefits of noninvasive prenatal testing and chromosomal microarray analysis in prenatal diagnosis and screening: clinical cases

Background. Due to the continuous development and improvement of genetic research methods, the range of possible prenatally determined chromosomal abnormalities is expanding. The use of modern molecular genetic methods, the noninvasive prenatal testing (NIPT) and chromosomal microarray analysis (CMA), allows both the suspicion and diagnosis of chromosomal rearrangements that cannot be identified by standard cytogenetic testing.

Patients and methods. Two clinical cases of fetal chromosomal rearrangement are presented. Pregnant women underwent the first trimester prenatal screening and whole-genome NIPT. When indicated, invasive prenatal diagnosis (IPD) was performed, and the obtained material was sent for cytogenetic examination and CMA.

Results. Based on the results of prenatal screening in the first trimester of pregnancy, the patients were assigned to the high-risk group for fetal chromosomal abnormalities (CA) in both cases. A high risk of rare CA was established by the results of NIPT. IPD was performed with the consent of the patients. The results of cytogenetic studies and CMA determined an unbalanced karyotype with the presence of additional genetic material in the fetuses.

Conclusions. The use of modern molecular genetic methods in addition to traditional methods (the first trimester prenatal screening and standard cytogenetic analysis) allows us to increase the range of detectable CAs determined prenatally.

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