Presentation Information
[OE8-2]Case Report of Suspected Placental Mosaicism of Double trisomy mosaic in amniocentesis sample
○Masatoshi Yamaguchi1,2, Ruriko Maruyama1,2, Kotaro Doi2, Minayo Ii1, Shinya Makino1, Shinji Katsuragi2, Hiroshi Sameshima2, Shunsuke Miyai3, Hiroki Kurahashi3 (1.Division of Clinical Genetics, University of Miyazaki Hospital, 2.Department of Obstetrics and Gynecology, University of Miyazaki, 3.Division of Molecular Genetics. Institute for Comprehensive Medical Science. Fujita Health University)
In prenatal diagnosis of the amniocentesis sample, chromosomal mosaicism causes a possible confusion result. We want to report a single case report of double mosaic trisomy due to placental mosaicism.
(Case)Thirty-eight years old woman (G3P0) visited to our genetic counseling out clinic at 12 weeks of gestation. Nuchal translucency was within normal limit. There was no anomaly with ultrasound examination.
（Methods）With informed consent, amniocentesis was done at 16 weeks of gestation. Result was 48, XX, +12, +20 [16]/ 46, XX [24]. Since there was no fetal anomaly and normal fetal growth with ultrasonography, we presumed this case might be placental mosaicism. Therefore, we tried cordcentesis and fetal blood sampling. We analyzed with next generation sequencing and SNPs array.
(Reults) Next generation sequencing showed karyotype was 46, XX. Chromosome 12 and 20 UPD was denied with SNPs array analysis. We concluded that fetal karyotype was normal. Patient decided to continue pregnancy. Five months later, patient delivered normal female baby.
(Conclusion)In this case, double trisomy mosaicism was placental origin. Fetal blood sampling is possible choice when suspected placental mosaicism.
(Case)Thirty-eight years old woman (G3P0) visited to our genetic counseling out clinic at 12 weeks of gestation. Nuchal translucency was within normal limit. There was no anomaly with ultrasound examination.
（Methods）With informed consent, amniocentesis was done at 16 weeks of gestation. Result was 48, XX, +12, +20 [16]/ 46, XX [24]. Since there was no fetal anomaly and normal fetal growth with ultrasonography, we presumed this case might be placental mosaicism. Therefore, we tried cordcentesis and fetal blood sampling. We analyzed with next generation sequencing and SNPs array.
(Reults) Next generation sequencing showed karyotype was 46, XX. Chromosome 12 and 20 UPD was denied with SNPs array analysis. We concluded that fetal karyotype was normal. Patient decided to continue pregnancy. Five months later, patient delivered normal female baby.
(Conclusion)In this case, double trisomy mosaicism was placental origin. Fetal blood sampling is possible choice when suspected placental mosaicism.