Current possibilities of prenatal diagnosis in a fetus with increased collarspace thickness


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Abstract

Objective. To estimate the diagnostic value of increased collarspace thickness (CST). Subjects and methods. 265 pregnant women whose fetal CST was above 2 mm and a comparison group (n = 21) where the woman or her husband was a carrier of chromosomal abnormalities or gene mutations were examined. The investigators used first-to-second trimester screening, invasive methods, cytogenetic assay, and comparative genomic hybridization. Results. Cytogenetic assay revealed aberrant karyotype in 64 (24.2%) fetuses. Array comparative genomic hybridization analysis detected pathogenic and probably pathogenic changes in 3 out of 36 fetuses with normal karyotype. Conclusion. When CST is increased, molecular genetic technique in addition to classical cytogenetic assay is required to diagnose microchromosomal abnormalities.

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About the authors

Natalia A. Karetnikova

Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: n_karetnikova@oparina4.ru
MD, PhD, Principal Researcher at the Laboratory of Reproductive Genetics

Aleksey N. Ekimov

Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: a_ekimov@oparina4.ru
MD, Laboratory of Molecular Genetic Techniques

Elena E. Baranova

Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: e_baranova@oparina4.ru
MD, Laboratory of Reproductive Genetics

Vladimir A. Bakharev

Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: v_bakharev@oparina4.ru
MD, PhD, Head of the Laboratory of Reproductive Genetics

Dmitry Yu. Trofimov

Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: d_troflmov@oparina4.ru
PhD, Head of the Laboratory of Molecular Genetic Techniques

Aleksandr I. Gus

Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: a_gus@oparina4.ru
MD, PhD, Professor, Head of the Department of the functional diagnosis

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