Transcervical Embryoscopic Diagnosis of Trisomy 21 with Intrauterine Fetal Demise

背景：妊娠十一週至十四週經腹部超音波檢查發現胎兒頸後透明帶比較厚通常胎兒較容易合併有染色體異常。其中又第二十一對染色體三倍體（唐氏症）的機會佔百分之七十二、第十八對染色體三倍體的機會佔百分之七十五、第十三對染色體三倍體的機會佔百分之七十二、透納氏症佔百分之八十七最為常見。通常我們必須等到第二妊期才能以經超音波導引羊膜穿刺及羊水細胞染色體檢查診斷。我們報告一例經由子宮頸胚胎鏡觀察到妊娠十二週合併唐氏症的個案。病例報告：一位三十六歲孕婦於妊娠十一週五天，接受常規之產檢，經腹部超音波檢查發現沒有胎心，經超音波測量頭臀徑估算胚胎為妊娠十一週五天。在接受人工流產手術前，我們以經子宮頸之胚胎鏡觀察。發現此胚胎有明顯的胎兒頸後透明帶過厚。流產物經電泳色層分析發現胎兒為第二十一對染色體三倍體（唐氏症）。結論：過期流產，常因人工流產手術而無法獲得正確胚胎死亡原因。經子宮頸胚胎鏡用於診斷妊娠早期的過期流產的致死原因是很有幫助。

關鍵字

頸後水腫；過期流產；經子宮頸胚胎鏡；超音波；唐氏症

並列摘要

Background: Embryoscopic diagnosis of cystic hygroma with trisomy 21 presenting as intrauterine fetal demise has never been reported. The morphological and pathological examination results, and the exact time of death in the conceptus of an intrauterine fetal demise are seldom clearly delineated. Case report: We used a transcervical endoscope to diagnose cystic hygroma in a case of 12-week intrauterine fetal demise in a 36-year-old patient. Based on the size and the external features of the dead embryo, which exhibited developmental arrest at 11 weeks and 5 days of gestational age, we estimated that the embryo had died approximately 2 days before the examination. The entire procedure went smoothly with no immediate complications. Conclusion(s): Intrauterine fetal demise is a common obstetric problem and the exact features of a dead embryo in utero are never clear before the introducing of the embryoscope. By means of transcervical embryoscopic examination of the embryo before evacuation, the morphological abnormalities can be almost completely visualized.

並列關鍵字

cystic hygroma ； early intrauterine fetal demise ； transcervical embryoscopy ； Trisomy 21

國際替代計量

Transcervical Embryoscopic Diagnosis of Trisomy 21 with Intrauterine Fetal Demise

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