講演情報
[OE8-2]羊水検査で発見され、胎盤性モザイクだと判断された、ダブルトリソミーモザイクの1例
○山口 昌俊1,2, 丸山 るり子1,2, 土井 宏太郎2, 伊井 美奈代1, 槇野 晋也1, 桂木 真司2, 鮫島 浩2, 宮井 俊輔3, 倉橋 浩樹3 (1.宮崎大学医学部附属病院遺伝カウンセリング部, 2.宮崎大学医学部産婦人科, 3.藤田医科大学医科学研究センター分子遺伝学)
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.