PLACENTAL MOSAICISM IN PREGNANCIES AT HIGH RISK FOR TRISOMY 16 ACCORDING TO GENOME-WIDE DNA-BASED NONINVASIVE PRENATAL SCREENING FOR ANEUPLOIDIES


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Abstract

Background: High-sensitivity noninvasive prenatal DNA screening (NIPS) for aneuploidies can detect the risk of fetal aneuploidies in chromosomes 13, 18, and 21, as well as in sex chromosomes from a pregnant woman’s plasma. Genome-wide NIPS makes it possible to study not only individual chromosomes, but also a complete human chromosome set and to identify both pathology in the fetus itself and mosaic aneuploidies in placental tissues. Case report: The paper describes a clinical case of a 42-year-old patient with confined placental mosaicism who has a high risk for trisomy 16, as evidenced by NIPS. A cytogenetic study after a chorionic biopsy showed the presence of a marker chromosome. A fetal amniotic fluid examination showed a normal female karyotype. A girl weighing 2340g with a normal female karyotype was born at 40 weeks 2 days of gestation. Postpartum placental examination using the FISH method revealed trisomy 16 in 100% of the examined cells. Conclusion: This case illustrates that NIPS can detect not only the presence of fetal aneuploidies, but also mosaic placental aneuploidies. In this connection, the management strategy for pregnancy should be determined using results of an additional examination. To avoid false positive results, one should perform confirmatory diagnosis after NIPS, by applying amniocentesis rather than chorionic biopsy.

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About the authors

Ilya Yu. BARKOV

Academician V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: i_barkov@oparina4.ru
PhD, Head of the Laboratory of Prenatal DNA Screening Moscow, Russia

Jekaterina SHUBINA

Academician V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: e_shubina@oparina4.ru
PhD (Bio), Head of the Laboratory of Genomic Data Analysis Moscow, Russia

Lyudmila V. KIM

Academician V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: kimika@list.ru
PhD, obstetrician-gynecologist, Department of Pregnancy Loss Prevention and Therapy Moscow, Russia

Anna S. BOLSHAKOVA

Academician V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: a_bolshakova@oparina4.ru
geneticist, Department of Clinical Genetics Moscow, Russia

Dmitry Yu. TROFIMOV

Academician V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: d_trofimov@oparina4.ru
Dr. Bio. Sci., Professor of the RAS, Corresponding member of the RAS, Director of the Institute of Reproductive Genetics Moscow, Russia

Andrey Yu. GOLTSOV

Academician V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: a_goltsov@oparina4.ru
Researcher, Molecular Genetics Laboratory Moscow, Russia

Igor O. SADELOV

Academician V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: a_sadelov@oparina4.ru
geneticist, Laboratory of Genomic Data Analysis Moscow, Russia

Nane G. PARSADANYAN

Academician V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: nnnpars@mail.ru
PhD, obstetrician-gynecologist, Department of Pregnancy Loss Prevention and Therapy Moscow, Russia

Yulia S. BULATOVA

Academician V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: yu.bulatova@mail.ru
PhD, obstetrician-gynecologist, Department of Pregnancy Loss Prevention and Therapy Moscow, Russia

Nana K. TETRUASHVILI

Academician V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: tetrauly@mail.ru
Dr. Med. Sci., Head of the Department of Pregnancy Loss Prevention and Therapy Moscow, Russia

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