Placental mosaicism in pregnancies at high risk for trisomy 16 according to genome-wide DNA-based noninvasive prenatal screening for aneuploidies
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.Barkov I.Yu., Shubina Je., Kim L.V., Bolshakova A.S., Trofimov D.Yu., Goltsov A.Yu., Sadelov I.O., Parsadanyan N.G., Bulatova Yu.S., Tetruashvili N.K.
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 2340 g 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.
Keywords
pregnancy
screening
NIPS
NIPT
DNA screening
trisomy 16
aneuploidies
mosaicism
placenta
threatened miscarriage
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Received 05.07.2022
Accepted 08.07.2022
About the Authors
Ilya Yu. Barkov, PhD, Head of the Laboratory of Prenatal DNA Screening, Academician V.I. Kulakov NMRC for OG&P, Ministry of Health of Russia, +7(495)438-24-10, i_barkov@oparina4.ru, 4, Acad. Oparin str., Moscow, Russian Federation, 117997.Jekaterina Shubina, PhD (Bio), Head of the Laboratory of Genomic Data Analysis, Academician V.I. Kulakov NMRC for OG&P, Ministry of Health of Russia,
+7(495)531-44-44, e_shubina@oparina4.ru, 4, Acad. Oparin str., Moscow, Russian Federation, 117997.
Lyudmila V. Kim, PhD, obstetrician-gynecologist, Department of Pregnancy Loss Prevention and Therapy, Academician V.I. Kulakov NMRC for OG&P,
Ministry of Health of Russia, +7(916)233-83-72, kimika@list.ru, 4, Acad. Oparin str., Moscow, Russian Federation, 117997.
Anna S. Bolshakova, geneticist, Department of Clinical Genetics, Academician V.I. Kulakov NMRC for OG&P, Ministry of Health of Russia, +7(495)438-24-11,
a_bolshakova@oparina4.ru, 4, Acad. Oparin str., Moscow, Russian Federation, 117997.
Dmitry Yu. Trofimov, Dr. Bio. Sci., Professor of the RAS, Corresponding member of the RAS, Director of the Institute of Reproductive Genetics, Academician V.I. Kulakov NMRC for OG&P, Ministry of Health of Russia, +7(495)438-49-51, d_trofimov@oparina4.ru, 4, Acad. Oparin str., Moscow, Russian Federation, 117997.
Andrey Yu. Goltsov, Researcher, Molecular Genetics Laboratory, Academician V.I. Kulakov NMRC for OG&P, Ministry of Health of Russia, +7(495)438-24-11,
a_goltsov@oparina4.ru, 4, Acad. Oparin str., Moscow, Russian Federation, 117997.
Igor O. Sadelov, geneticist, Laboratory of Genomic Data Analysis, Academician V.I. Kulakov NMRC for OG&P, Ministry of Health of Russia, +7(495)438-24-10,
a_sadelov@oparina4.ru, 4, Acad. Oparin str., Moscow, Russian Federation 117997.
Nane G. Parsadanyan, PhD, obstetrician-gynecologist, Department of Pregnancy Loss Prevention and Therapy, Academician V.I. Kulakov NMRC for OG&P,
Ministry of Health of Russia, +7(926)330-42-41, nnnpars@mail.ru, 4, Acad. Oparin str., Moscow, Russian Federation, 117997.
Yulia S. Bulatova, PhD, obstetrician-gynecologist, Department of Pregnancy Loss Prevention and Therapy, Academician V.I. Kulakov NMRC for OG&P,
Ministry of Health of Russia, +7(495)438-14-77, yu.bulatova@mail.ru, 4, Acad. Oparin str., Moscow, Russian Federation, 117997.
Nana K. Tetruashvili, Dr. Med. Sci., Head of the Department of Pregnancy Loss Prevention and Therapy, Academician V.I. Kulakov NMRC for OG&P,
Ministry of Health of Russia,+7(495)438-14-77, tetrauly@mail.ru, 4, Acad. Oparin str., Moscow, Russian Federation 117997.
Authors' contributions: Barkov I.Yu. – development of the design of the investigation, clinical material collection, data processing, analysis and interpretation, writing the text; Shubina Je. – review of publications on the topic of the article, bioinformatics analysis of genomic data; Kim L.V. – clinical material collection, female patient management, writing the text; Bolshakova A.S. – clinical material collection, female patient management, writing the text, molecular genetic studies; Trofimov D.Yu. – choosing the publication topic, data analysis and interpretation, approving the manuscript for publication; Goltsov A.Yu. – molecular genetic studies, data analysis and interpretation; Sadelov I.O. – bioinformatics analysis of genomic data, clinical material collection; Parsadanyan N.G., Bulatova Yu.S. – clinical material collection, female patient management; Tetruashvili N.K. – development of the design of the investigation, clinical material collection, female patient management, interpretation of investigation results, writing the text.
Conflicts of interest: The authors declare that there are no possible conflicts of interest.
Funding: The investigation has been conducted within the framework of State Assignment No. E-2 - 122030300377-6.
Patient Consent for Publication: The patient provided informed consent for the publication of her data.
For citation: Barkov I.Yu., Shubina Je., Kim L.V., Bolshakova A.S., Trofimov D.Yu.,
Goltsov A.Yu., Sadelov I.O., Parsadanyan N.G., Bulatova Yu.S., Tetruashvili N.K. Placental mosaicism in pregnancies at high risk for trisomy 16 according to genome-wide DNA-based noninvasive prenatal screening for aneuploidies.
Akusherstvo i Ginekologiya/Obstetrics and Gynecology. 2022; 7: 131-136 (in Russian)
https://dx.doi.org/10.18565/aig.2022.7.131-136
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