彰化秀傳紀念醫院羊膜穿刺分析（1990-2005年）

The Analysis of Amniocentesis at Changhua Show Chwan Memorial Hospita l(1990~2005)

我國自1985年開始實施優生保健法及羊膜腔穿刺術（amniocentesis）檢查，台灣孕婦接受羊膜穿刺術的個案逐年遞增，其中以高齡孕婦（advanced maternal age; ≧34歲），母血唐氏篩檢（maternal serum screening for Down syndrome）陽性及超音波（sona）檢查異常者佔了大部份。臺大醫院截至1997年12月底共分析了14200例，異常率為3%。成大醫院從1990 ~ 2000年完成了5657例羊水染色體分析，異常率為2.42%。在2001年衛生署研究計劃，從1990~2000年共16萬例，異常率為2.53%。這些報告與其他類似的報告大致相近，也肯定時下產前羊水染色體（chromosome）分析策略，是一項極具意義之預防醫學工作。本篇研究以異常案例為對象，其目的在於藉著羊水染色體的分析，探討其與危險因子之相關性。本研究取樣共1369例，對象是在秀傳紀念醫院做羊膜穿刺術染色體檢查之孕婦，時間從1990至2005年，其全部染色體異常率為2.63%，1994年再加上唐氏母血篩檢，平均異常率則從1.52%提高至2.69%，對於多種染色體異常比率的發現也有明顯的改變，而其中對觀察Trisomy 21及性染色體異常更有明顯的幫助，另Trisomy 18的篩檢則是以超音波發現異常為主，而由染色體異常個案追蹤中，發現數目異常現象者，通常是精子或卵子減數分裂不分離所造成，而結構異常者通常都是遺傳自父親或母親。希望這些數據可以在產前優生保健及遺傳諮詢方面，提供臨床醫師更多的本土資訊。

Since the beginning of the Eugenics and Health Care Act of 1985, amniocentesis has been undertaken in Taiwan. The three major indications for amniocentesis in our hospital are advanced maternal age, high risk for Down syndrome screening and prenatal echogenic survey of fetal abnormality. The purpose for our research has been based on the analysis of the data for amniocentesis at Chanhwa Show Chwan Memorial Hospital. Tracing back the data of the abnormal cases, we can discover the relationship between the risk factors and chromosome anomaly. The duration of our amniocentesis research was between 1990 and 2005. There were 1369 pregnant women that underwent amniocentesis in our hospital. The totally abnormality rate of chromosome study in amniocentesis was 2.63 % (comparing to the data of NCUH: 2.42% in 5657 cases during 1990-2000, the data of NTUH: 3% in 14200 cases during 1990-1997 and the data of DOH research: 2.53% in 160000 cases during 1990-2000). Since 1994, Down screening for maternal blood has been introduced in the obstetric clinics in our hospital. The average detection rate of amniocentesis for fetal chromosome abnormality has increased from 1.52% to 2.69%. The result of the chromosome abnormality has been noted with prominent change, especially in Trisomy 21 and the sexual chromosome abnormality. On the other hand, Trisomy 18 is usually found through prenatal echogenic abnormal findings. Generally, the abnormal number of chromosomes has occurred at the meiosis stage. The structural abnormality of chromosome has been related to the parental origin. We hope our data can support more information for the obstetric clinic doctors for eugenic knowledge and prenatal genetic consultation. The results can also contribute to the database in Taiwan.