Random findings in the use of a whole genome noninvasive prenatal test: clinical and ethical aspects

Olenev A.S.

City Clinical Hospital No 24

Baranova E.E.

Russian Medical Academy of Continuous Professional Education of the Ministry of health of the Russian Federation;
Medicogenetic laboratory «Evogen»

Sagaydak O.V.

Medicogenetic laboratory «Evogen»

Kuznetsova E.S.

Medicogenetic laboratory «Evogen»

Galaktionova A.M.

Medicogenetic laboratory «Evogen»

Kaplanova M.T.

Medicogenetic laboratory «Evogen»

Belenikin M.S.

Medicogenetic laboratory «Evogen»

Gnetetskaya V.A.

Medicogenetic laboratory «Evogen»;
Group of companies «Mother and child»

Songolova E.N.

L.A. Vorokhobov City Clinical Hospital No 67

Random findings in the use of a whole genome noninvasive prenatal test: clinical and ethical aspects

Authors:

Olenev A.S., Baranova E.E., Sagaydak O.V., Kuznetsova E.S., Galaktionova A.M., Kaplanova M.T., Belenikin M.S., Gnetetskaya V.A., Songolova E.N.

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Journal: Russian Journal of Human Reproduction. 2021;27(1): 78‑87

DOI: 10.17116/repro20212701178

Downloaded: 117

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To cite this article:

Olenev AS, Baranova EE, Sagaydak OV, et al. . Random findings in the use of a whole genome noninvasive prenatal test: clinical and ethical aspects. Russian Journal of Human Reproduction. 2021;27(1):78‑87. (In Russ.)
https://doi.org/10.17116/repro20212701178

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OBJECTIVE

To analyze the ethical and clinical aspects of accidental findings identification using a whole genome non-invasive prenatal test (NIPT).

MATERIALS AND METHODS

From 01.04.20 to 30.09.20 in Moscow 5181 blood samples were analyzed by whole genome NIPT. To further results verification an invasive diagnostic was performed followed by karyotyping and chromosomal microarray analysis (aCGH).

Results: In 21 cases, a high risk of rare autosomal trisomies and clinically significant microchromosomal fetus abnormalities or copy number variation (CNV) were revealed.

CONCLUSION

Accidental findings by whole genome NIPT could increase the efficiency of prenatal diagnosis, allowing to detect rare trisomies and microchromosomal abnormalities. However, additional research is required to formulate clinical guidelines on accidental NIPT detected findings interpretation, on its clinical and ethical aspects.

Keywords:

chromosomal pathology

fetal fraction

first trimester prenatal screening

non-invasive prenatal testing

NIPT

microchromosomal rearrangements

multiple pregnancy

Authors:

Olenev A.S.

City Clinical Hospital No 24

Baranova E.E.

Russian Medical Academy of Continuous Professional Education of the Ministry of health of the Russian Federation;
Medicogenetic laboratory «Evogen»

Sagaydak O.V.

Medicogenetic laboratory «Evogen»

Kuznetsova E.S.

Medicogenetic laboratory «Evogen»

Galaktionova A.M.

Medicogenetic laboratory «Evogen»

Kaplanova M.T.

Medicogenetic laboratory «Evogen»

Belenikin M.S.

Medicogenetic laboratory «Evogen»

Gnetetskaya V.A.

Medicogenetic laboratory «Evogen»;
Group of companies «Mother and child»

Songolova E.N.

L.A. Vorokhobov City Clinical Hospital No 67

Received:

10.01.2021

Accepted:

21.02.2021

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