Prenatal Diagnosis of Alobar Holoprosencephaly Facilitated by the Combined Use of Ultrasound and Magnetic Resonance Imaging

目的：胎兒未分葉空腦症乃早期胚胎發育時期前腦的不完全分裂所致。由於未分葉空腦症的預後差，因此早期診斷很重要。我們在此報告產前以傳統超音波及核磁共振造影診斷胎兒空腦症，同時討論核磁共振造影在產前診斷胎兒空腦症的優點。病例報告：一位25歲女性懷孕十九週三天至本院產檢。腹部超音波顯示胎兒有單一腦室，融合的視丘及缺少大腦簾併唇裂及顎裂畸形。核磁共振造影進一步顯示胎兒的軀體，同時分層處理胎兒腦部影像。經羊膜穿刺術檢查染色體正常。遺傳諮詢後，患者決定以前列腺素引產。胎兒送病理解剖之報告為未分葉空腦症併唇裂及顎裂畸形。結論：本研究顯示傳統超音波仍為診斷此類胎兒異常的利器，而核磁共振造影可顯示胎兒整體的構造，分層評估胎兒腦部畸型。核磁共振造影並未改變傳統超音波的診斷，然而核磁共振造影卻可補強傳統超音波於胎兒未分葉空腦症的影像。

關鍵字

核磁共振造影；超音波；產前診斷；未分葉空腦症

並列摘要

Objective: Alobar holoprosencephaly is the most severe form of holoprosencephaly. The poor prognosis of fetuses with alobar holoprosencephaly makes early diagnosis in utero important. Herein we report on a case of alobar holoprosencephaly diagnosed in the second trimester using both ultrasound (US) and magnetic resonance imaging (MRI). Case Report(s): A pregnant 25-year-old woman underwent an abdominal US examination at 19 weeks 3 days. A detailed US examination using a 3.5-MHz transabdominal probe demonstrated a fused single ventricle, a fused thalami, a cleft lip and palate, and the absence of falx cerebri in her fetus. T2-weighted MRI further revealed the fetal body with all brain cavities outlined by segmentation. After amniocentesis and prenatal counseling, the couple chose to terminate the pregnancy. The fetus was aborted using vaginal prostaglandin. Fetal karyotype showed 46, XY. Histological examination revealed alobar holoprosencephaly with cleft lip and palate. Conclusion(s): MRI does not alter the diagnosis of alobar holoprosencephaly made solely by obstetric US, but it may provide improved visualization of fetal alobar holoprosencephaly.

並列關鍵字

magnetic resonance imaging ； ultrasound ； prenatal diagnosis ； alobar holoprosencephaly

國際替代計量

Prenatal Diagnosis of Alobar Holoprosencephaly Facilitated by the Combined Use of Ultrasound and Magnetic Resonance Imaging

全文下載

主題瀏覽