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

التفاصيل البيبلوغرافية
العنوان: Prenatal Detection of Trisomy 2: Considerations for Genetic Counseling and Testing.
المؤلفون: Talantova OE; D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Mendeleevskaya Line, 3, St. Petersburg 199034, Russia., Koltsova AS; D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Mendeleevskaya Line, 3, St. Petersburg 199034, Russia., Tikhonov AV; D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Mendeleevskaya Line, 3, St. Petersburg 199034, Russia., Pendina AA; D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Mendeleevskaya Line, 3, St. Petersburg 199034, Russia., Malysheva OV; D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Mendeleevskaya Line, 3, St. Petersburg 199034, Russia., Tarasenko OA; D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Mendeleevskaya Line, 3, St. Petersburg 199034, Russia., Vashukova ES; D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Mendeleevskaya Line, 3, St. Petersburg 199034, Russia., Shabanova ES; D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Mendeleevskaya Line, 3, St. Petersburg 199034, Russia., Golubeva AV; Faculty of Biology, Department of Genetics and Biotechnology, St. Petersburg State University, Universitetskaya emb., 7/9, St. Petersburg 199034, Russia., Chiryaeva OG; D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Mendeleevskaya Line, 3, St. Petersburg 199034, Russia., Glotov AS; D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Mendeleevskaya Line, 3, St. Petersburg 199034, Russia., Bespalova ON; D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Mendeleevskaya Line, 3, St. Petersburg 199034, Russia., Efimova OA; D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Mendeleevskaya Line, 3, St. Petersburg 199034, Russia.
المصدر: Genes [Genes (Basel)] 2023 Apr 14; Vol. 14 (4). Date of Electronic Publication: 2023 Apr 14.
نوع المنشور: Case Reports; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE
أسماء مطبوعة: Original Publication: Basel : MDPI
مواضيع طبية MeSH: Trisomy*/diagnosis , Trisomy*/genetics , Oligohydramnios*/diagnosis, Pregnancy ; Female ; Humans ; Adult ; Placenta ; Genetic Counseling ; In Situ Hybridization, Fluorescence ; Comparative Genomic Hybridization ; Fetal Growth Retardation/genetics ; Chromosomes, Human, Pair 2
مستخلص: 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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فهرسة مساهمة: Keywords: invasive prenatal diagnosis; low-level mosaicism; mosaicism; non-invasive prenatal diagnosis (NIPT); trisomy 2; ultrasound markers of chromosomal abnormalities
تواريخ الأحداث: Date Created: 20230428 Date Completed: 20230501 Latest Revision: 20230502
رمز التحديث: 20231215
مُعرف محوري في PubMed: PMC10138005
DOI: 10.3390/genes14040913
PMID: 37107671
قاعدة البيانات: MEDLINE
الوصف
تدمد:2073-4425
DOI:10.3390/genes14040913