宫内诊断9号染色体三体镶嵌现象。
Trisomy 9 mosaicism diagnosed in utero.
作者信息
Takahashi Hironori, Hayashi Satoshi, Miura Yumiko, Tsukamoto Keiko, Kosaki Rika, Itoh Yushi, Sago Haruhiko
机构信息
Department of Maternal-Fetal and Neonatal Medicine, National Center for Child Health and Development, Tokyo 157-8535, Japan.
出版信息
Obstet Gynecol Int. 2010;2010. doi: 10.1155/2010/379534. Epub 2010 Jul 25.
Abstract
We present three cases of trisomy 9 mosaicism diagnosed by amniocentesis with ongoing pregnancies after referral to our center due to fetal abnormalities. Two cases were associated with severe fetal growth restriction (FGR), each of which resulted in an intrauterine fetal demise (IUFD) in the third trimester. The other case involved mild FGR with a congenital diaphragmatic hernia and resulted in a live birth with severe development delay. A major prenatal finding of trisomy 9 mosaicism is FGR. Fetuses with trisomy 9 mosaicism can rarely survive in the case of severe FGR.
摘要
我们报告了3例经羊膜腔穿刺诊断为9号染色体三体嵌合体的病例，这些孕妇因胎儿异常转诊至我们中心后仍继续妊娠。其中2例伴有严重胎儿生长受限（FGR），每例均在孕晚期导致宫内胎儿死亡（IUFD）。另一例涉及轻度FGR并伴有先天性膈疝，结果是活产但有严重发育迟缓。9号染色体三体嵌合体的一个主要产前发现是FGR。在严重FGR的情况下，9号染色体三体嵌合体胎儿很少能存活。
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Congenit Anom (Kyoto). 2006 Jun;46(2):115-7. doi: 10.1111/j.1741-4520.2006.00111.x.
3
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Ultrasound Obstet Gynecol. 1999 Mar;13(3):167-70. doi: 10.1046/j.1469-0705.1999.13030167.x.
4
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