Low-level mosaic trisomy 13 at amniocentesis in a pregnancy associated with a favorable fetal outcome and cytogenetic discrepancy in various tissues
Taiwanese Journal of Obstetrics and Gynecology, ISSN: 1028-4559, Vol: 62, Issue: 2, Page: 354-357
2023
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Hsinchu MacKay Memorial Hospital Researchers Detail Research in Obstetrics and Gynecology (Low-level mosaic trisomy 13 at amniocentesis in a pregnancy associated with a favorable fetal outcome and cytogenetic discrepancy in various tissues)
2023 APR 12 (NewsRx) -- By a News Reporter-Staff News Editor at NewsRx Women's Health Daily -- Research findings on obstetrics and gynecology are discussed
Case Description
We present low-level mosaic trisomy 13 at amniocentesis in a pregnancy associated with associated with a favorable fetal outcome and cytogenetic discrepancy in various tissues. A 38-year-old, gravida 3, para 0, woman underwent amniocentesis at 19 weeks of gestation because of advanced maternal age. This pregnancy was conceived by in vitro fertilization and embryo transfer. Amniocentesis revealed a karyotype of 47,XX,+13[2]/ 46,XX[20] in co-twin A and a karyotype of 46,XY in co-twin B. In co-twin A, among 22 colonies of cultured amniocytes, two colonies had a karyotype of 47,XX,+13, whereas the rest 20 colonies had the karyotype of 46,XX. Array comparative genomic hybridization (aCGH) analysis on the DNA extracted from cultured amniocytes revealed arr (1-22,X) × 2, Y × 0 and detected no genomic imbalance. Prenatal ultrasound and parental karyotypes were normal. Quantitative fluorescence polymerase chain reaction (QF-PCR) analysis on the DNA extracted from the parental bloods and cultured amniocytes excluded uniparental disomy (UPD) 13. The woman was encouraged to continue the pregnancy. At 37 weeks of gestation, a normal 2410-g female co-twin A and a normal 2360-g male co-twin B were delivered without any phenotypic abnormality. The karyotypes of cord blood, umbilical cord and placenta of co-twin A were 46,XX (40/40 cells), 47,XX,+13 [1]/46,XX[39] and 47,XX,+13[36]/46,XX [4], respectively. QF-PCR analysis on cord blood of co-twin A excluded UPD 13. When follow-up at age 1½ years, the neonate of co-twin A was normal in physical and psychomotor development. Low-level true mosaic trisomy 13 at amniocentesis can be associated with a favorable fetal outcome and cytogenetic discrepancy in various tissues.
Bibliographic Details
http://www.sciencedirect.com/science/article/pii/S1028455923000384; http://dx.doi.org/10.1016/j.tjog.2022.12.006; http://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&scp=85150344829&origin=inward; http://www.ncbi.nlm.nih.gov/pubmed/36965909; https://linkinghub.elsevier.com/retrieve/pii/S1028455923000384; https://dx.doi.org/10.1016/j.tjog.2022.12.006
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