中華民國小兒科醫學會第137屆學術演講會教育演講：先天性畸形－先天異常

Continuing Medical Education The 137th Scientific Meeting of the Chinese Taipei Pediatric Association Continuing Medical Education: Congenital Anomalies in Taiwan-Congenital Anomalies

趙美琴(Mei-Chyn Chao)

《Acta Paediatrica Sinica》 35卷s_1期 (1994/04) Pp. 23-27

https://doi.org/10.7097/APS.199404.0023

摘要

先天異常是指出生時即已存在任何形式的構造異常。先天異常可依單一或多發，及小的或大的臨床意義而有不同的發生率。3%新生兒有單一大的異常，其最常見器官異常有腦，心及腎。引起先天異常的原因有三大類：（一）遺傳因素佔6~7%爲染色體異常，7~8%爲單基因異常。（二）環境因素：約7~10%因環境畸形劑引起。（三）多基因遺傳因素：佔20~25%。
作者收集高雄地區八所醫院自1991年一月至1993年十二月新生兒活産數42，222名。共489名（佔1.16%）。新生兒有大的先天異常，其中以先天性心臟病(338名)，唇裂及顎裂（49名），多指（趾）及併指（趾）（28名）最多。染色體異常有21三染色體症（唐氏症）18名，18三染色體症4名。4名臨床診斷爲基因異常症候群。大部分先天異常無法找出其病因，未來分子生物學技術發展許多先天異常將可發現更多基因缺陷。

並列摘要

A congenital anomaly is a structural abnormality of any type that is present at birth. The causes of congenital anomalies are often divided into genetic factors (chromosome abnormalities and mutant genes) and environmental factors, many common congenital anomalies caused by multifactorial inheritance.
From January, 1991, to December, 1993, 42,222 liveborn infants were collected from eight hospitals in Kaohsiung city. Approximately 489 (1.16%) infants of all liveborn infants had major congenital anomalies. The most common major malformations were congenital heart diseases (338 cases), cleft lip and palate (49 cases), and polysyndactyly (28 cases). Chromosome abnormalities had trisomy 21(18 cases) and trisomy 18 (4 cases). Four cases had identified mutant gene syndromes. The majority of infants with congenital anomalies of unknown cause likely have a genetic disorder. Molecular biological techniques will accelerate genetic discoveries over the next few decades.