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Prenatal Detection of Trisomy 2: Considerations for Genetic Counseling and Testing

We report on the case of prenatal detection of trisomy 2 in placental biopsy and further algorithm of genetic counseling and testing. A 29-year-old woman with first-trimester biochemical markers refused chorionic villus sampling and preferred targeted non-invasive prenatal testing (NIPT), which show...

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Autores principales: Talantova, Olga E., Koltsova, Alla S., Tikhonov, Andrei V., Pendina, Anna A., Malysheva, Olga V., Tarasenko, Olga A., Vashukova, Elena S., Shabanova, Elena S., Golubeva, Arina V., Chiryaeva, Olga G., Glotov, Andrey S., Bespalova, Olesya N., Efimova, Olga A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10138005/
https://www.ncbi.nlm.nih.gov/pubmed/37107671
http://dx.doi.org/10.3390/genes14040913
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author Talantova, Olga E.
Koltsova, Alla S.
Tikhonov, Andrei V.
Pendina, Anna A.
Malysheva, Olga V.
Tarasenko, Olga A.
Vashukova, Elena S.
Shabanova, Elena S.
Golubeva, Arina V.
Chiryaeva, Olga G.
Glotov, Andrey S.
Bespalova, Olesya N.
Efimova, Olga A.
author_facet Talantova, Olga E.
Koltsova, Alla S.
Tikhonov, Andrei V.
Pendina, Anna A.
Malysheva, Olga V.
Tarasenko, Olga A.
Vashukova, Elena S.
Shabanova, Elena S.
Golubeva, Arina V.
Chiryaeva, Olga G.
Glotov, Andrey S.
Bespalova, Olesya N.
Efimova, Olga A.
author_sort Talantova, Olga E.
collection PubMed
description We report on the case of prenatal detection of trisomy 2 in placental biopsy and further algorithm of genetic counseling and testing. A 29-year-old woman with first-trimester biochemical markers refused chorionic villus sampling and preferred targeted non-invasive prenatal testing (NIPT), which showed low risk for aneuploidies 13, 18, 21, and X. A series of ultrasound examinations revealed increased chorion thickness at 13/14 weeks of gestation and fetal growth retardation, a hyperechoic bowel, challenging visualization of the kidneys, dolichocephaly, ventriculomegaly, increase in placental thickness, and pronounced oligohydramnios at 16/17 weeks of gestation. The patient was referred to our center for an invasive prenatal diagnosis. The patient’s blood and placenta were sampled for whole-genome sequencing-based NIPT and array comparative genomic hybridization (aCGH), respectively. Both investigations revealed trisomy 2. Further prenatal genetic testing in order to confirm trisomy 2 in amniocytes and/or fetal blood was highly questionable because oligohydramnios and fetal growth retardation made amniocentesis and cordocentesis technically unfeasible. The patient opted to terminate the pregnancy. Pathological examination of the fetus revealed internal hydrocephalus, atrophy of brain structure, and craniofacial dysmorphism. Conventional cytogenetic analysis and fluorescence in situ hybridization revealed chromosome 2 mosaicism with a prevalence of trisomic clone in the placenta (83.2% vs. 16.8%) and a low frequency of trisomy 2, which did not exceed 0.6% in fetal tissues, advocating for low-level true fetal mosaicism. To conclude, in pregnancies at risk of fetal chromosomal abnormalities that refuse invasive prenatal diagnosis, whole-genome sequencing-based NIPT, but not targeted NIPT, should be considered. In prenatal cases of trisomy 2, true mosaicism should be distinguished from placental-confined mosaicism using cytogenetic analysis of amniotic fluid cells or fetal blood cells. However, if material sampling is impossible due to oligohydramnios and/or fetal growth retardation, further decisions should be based on a series of high-resolution fetal ultrasound examinations. Genetic counseling for the risk of uniparental disomy in a fetus is also required.
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spelling pubmed-101380052023-04-28 Prenatal Detection of Trisomy 2: Considerations for Genetic Counseling and Testing Talantova, Olga E. Koltsova, Alla S. Tikhonov, Andrei V. Pendina, Anna A. Malysheva, Olga V. Tarasenko, Olga A. Vashukova, Elena S. Shabanova, Elena S. Golubeva, Arina V. Chiryaeva, Olga G. Glotov, Andrey S. Bespalova, Olesya N. Efimova, Olga A. Genes (Basel) Case Report We report on the case of prenatal detection of trisomy 2 in placental biopsy and further algorithm of genetic counseling and testing. A 29-year-old woman with first-trimester biochemical markers refused chorionic villus sampling and preferred targeted non-invasive prenatal testing (NIPT), which showed low risk for aneuploidies 13, 18, 21, and X. A series of ultrasound examinations revealed increased chorion thickness at 13/14 weeks of gestation and fetal growth retardation, a hyperechoic bowel, challenging visualization of the kidneys, dolichocephaly, ventriculomegaly, increase in placental thickness, and pronounced oligohydramnios at 16/17 weeks of gestation. The patient was referred to our center for an invasive prenatal diagnosis. The patient’s blood and placenta were sampled for whole-genome sequencing-based NIPT and array comparative genomic hybridization (aCGH), respectively. Both investigations revealed trisomy 2. Further prenatal genetic testing in order to confirm trisomy 2 in amniocytes and/or fetal blood was highly questionable because oligohydramnios and fetal growth retardation made amniocentesis and cordocentesis technically unfeasible. The patient opted to terminate the pregnancy. Pathological examination of the fetus revealed internal hydrocephalus, atrophy of brain structure, and craniofacial dysmorphism. Conventional cytogenetic analysis and fluorescence in situ hybridization revealed chromosome 2 mosaicism with a prevalence of trisomic clone in the placenta (83.2% vs. 16.8%) and a low frequency of trisomy 2, which did not exceed 0.6% in fetal tissues, advocating for low-level true fetal mosaicism. To conclude, in pregnancies at risk of fetal chromosomal abnormalities that refuse invasive prenatal diagnosis, whole-genome sequencing-based NIPT, but not targeted NIPT, should be considered. In prenatal cases of trisomy 2, true mosaicism should be distinguished from placental-confined mosaicism using cytogenetic analysis of amniotic fluid cells or fetal blood cells. However, if material sampling is impossible due to oligohydramnios and/or fetal growth retardation, further decisions should be based on a series of high-resolution fetal ultrasound examinations. Genetic counseling for the risk of uniparental disomy in a fetus is also required. MDPI 2023-04-14 /pmc/articles/PMC10138005/ /pubmed/37107671 http://dx.doi.org/10.3390/genes14040913 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Talantova, Olga E.
Koltsova, Alla S.
Tikhonov, Andrei V.
Pendina, Anna A.
Malysheva, Olga V.
Tarasenko, Olga A.
Vashukova, Elena S.
Shabanova, Elena S.
Golubeva, Arina V.
Chiryaeva, Olga G.
Glotov, Andrey S.
Bespalova, Olesya N.
Efimova, Olga A.
Prenatal Detection of Trisomy 2: Considerations for Genetic Counseling and Testing
title Prenatal Detection of Trisomy 2: Considerations for Genetic Counseling and Testing
title_full Prenatal Detection of Trisomy 2: Considerations for Genetic Counseling and Testing
title_fullStr Prenatal Detection of Trisomy 2: Considerations for Genetic Counseling and Testing
title_full_unstemmed Prenatal Detection of Trisomy 2: Considerations for Genetic Counseling and Testing
title_short Prenatal Detection of Trisomy 2: Considerations for Genetic Counseling and Testing
title_sort prenatal detection of trisomy 2: considerations for genetic counseling and testing
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10138005/
https://www.ncbi.nlm.nih.gov/pubmed/37107671
http://dx.doi.org/10.3390/genes14040913
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