產前診斷具染色體異常的全前腦畸形的胎兒之罕見案例報告

Rare Case Report of Prenatal Diagnosis of Fetal Holoprosencephaly Associated with Chromosomal Abnormalities

本文主要顯示對於在超音波檢查發現全前腦發育異常（Holoprosencephaly）的孕婦，建議施作羊水細胞染色體核型檢查的重要性。一位生產史為懷孕1次、生產0次、流產1次的27歲女性在本院接受體外受精與胚胎移植治療後，自2023年3月31日定期在婦產科門診進行產前檢查。預產期為2023年12月22日。於2023年4月18日，尿液懷孕檢測試劑（Urine Plano test）為陽性，其胚胎成功著床懷孕。但於2023年6月12日，我們以超音波觀察到全前腦畸形特徵的影像，並進一步進行羊膜穿刺並培養羊水細胞。於2023年7月10日，在羊水培養皿中的20個細胞進行了細胞核型檢查顯示其13週大的胎兒染色體異常。所有細胞核型均顯示為46, XY, del(13)(q32-q34)染色體嚴重缺失，其父母皆無異常染色體。於2023年8月7日，她住進我們病房接受米索前列醇（misoprostol）終止妊娠，進行了陰道分娩。由於產後持續陰道出血，經子宮腔鏡以電刀切除殘餘的胎盤（hysteroscopy for resection of retained placenta）。

This passage primarily highlights the importance of measuring chromosomal abnormalities in amniotic fluid and features suggestive ultrasound findings of brain malformations. A 27-year-old woman with a reproductive history of one pregnancy, no deliveries, and one miscarriage underwent in vitro fertilization and embryo transfer treatment at our hospital. Since March 31, 2023, she has been attending regular prenatal examinations at the Obstetrics and Gynecology outpatient clinic with an estimated due date of December 22, 2023. On April 18, 2023, a plano test yielded a positive result, confirming successful embryo implantation and pregnancy. On June 12, 2023, a high-level ultrasound revealed characteristics of holoprosencephaly, prompting further investigation through amniocentesis and amniotic cell cultivation. On July 10, chromosomal analysis of 20 cells from the amniotic fluid culture indicated chromosomal abnormalities in the 13-week-old fetus. All cell karyotypes showed 46, XY, del (13)(q32-q34), a male chromosomal abnormality, with no abnormalities detected in the parents’chromosomes. Subsequently, on August 7, 2023, she was admitted to our ward for a mifepristone- induced abortion. She underwent vaginal delivery, and any remaining placental tissue was removed via electrocautery through hysteroscopy. She was successfully discharged afterward.