Advancing Genetic Diagnostics in Gynaecology and Obstetrics: An Interview with Unilabs Slovakia Medical Genetics Laboratory Manager RNDr Renáta Zemjarová Mezenská Skip to main content

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30 July 2024

Advancing Genetic Diagnostics in Gynaecology and Obstetrics: An Interview with Unilabs Slovakia Medical Genetics Laboratory Manager RNDr Renáta Zemjarová Mezenská

At Unilabs, we are dedicated to advancing the field of genetic diagnostics, particularly in gynaecology and obstetrics. Our commitment to innovation is exemplified by our work with non-invasive prenatal screening (NIPT) and other critical diagnostic tests. Today, we discuss these topics with Unilabs Slovakia Medical Genetics Laboratory Manager RNDr. Renáta Zemjarová Mezenská.

What is the significance of NIPT in prenatal care, and how does it work?

NIPT is a transformative approach in prenatal care, as it allows us to analyse free fetal DNA (of placental origin) from maternal blood. This test screens for specific chromosomal abnormalities, including trisomy 13, 18, and 21, as well as changes in the number of X and Y chromosomes (aneuploidy). By determining the presence of the Y chromosome, we can also ascertain the sex of the fetus. The technology involves whole genome sequencing of cfDNA fragments from maternal blood samples, which are analysed using Illumina VeriSeq™ Assay Software to determine chromosome number and fetal fraction.

Can you explain the process and reliability of the NIPT test?

The process involves comparing maternal and fetal genomic material with reference values to detect potential aneuploidies. While NIPT is highly reliable, it’s important to note that both positive and false negative results can occur. Therefore, irreversible clinical decisions should not be made solely based on NIPT results. These results should always be interpreted within the context of all clinical indications, and any presence of chromosomal abnormalities should be confirmed through further genetic counselling and invasive diagnostic techniques, such as amniocentesis.

What are the limitations and important considerations when using NIPT?

NIPT is validated for singleton or twin pregnancies (natural conception and IVF) from the 10th week of pregnancy. However, the test is not suitable for pregnancies with more than two fetuses, twins or vanishing twins conceived during IVF using donor eggs, patients with malignancies, or those with a history of malignancies, bone marrow or organ transplants, or recent transfusions. Additionally, rare phenomena such as circumscribed placental mosaicism, maternal chromosomal abnormalities, and cfDNA residues from a vanishing twin may cause discordant results.

Beyond NIPT, what other genetic tests are important in reproductive health?

Our reproductive health portfolio includes a variety of tests starting from preconception, offering both diagnostic and preventive options to help future parents make informed decisions. For prenatal diagnosis, we use screening and diagnostic tests on prenatal samples, like fetal cells or cell-free DNA, to detect aneuploidies, monogenic diseases, and other genomic abnormalities, which can identify high-risk pregnancies early on. We also offer carrier screening based on whole exome sequencing, which detects genetic variants across different ethnic backgrounds, helping families understand and manage population-specific risks. Additionally, we have infertility panels that can pinpoint genetic causes of infertility and support informed family planning, including options like IVF. Chromosomal analysis, or karyotype analysis, is another key test that identifies structural and numerical chromosomal abnormalities, which can explain reproductive disorders. These tests collectively provide a comprehensive approach to reproductive health, supporting individuals and families throughout their reproductive journey.

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