前言
　　先天性缺陷是非常重要的醫學及公衛相關課題，但台灣地區目前仍未針對會造成先天性缺陷發生的危險因子進行探討。故本篇研究結合2000至2002年的空氣品質監測資料及2001至2002年的出生通報資料加以探討母親年齡、新生兒性別、胎數、及母親於懷孕不同時期暴露到空氣污染等各項危害因子與產下的新生兒發生特定系統先天性缺陷之間的相關性。

方法
　　挑選2001至2002年期間出生通報檔案中登記的活產兒及死產兒作為研究對象。出生通報檔案中的先天性缺陷的診斷標準需以國際疾病代碼加以修正，並計算每一先天性缺陷的發生率。利用2000至2002年的空氣品質監測資料，計算研究對象受孕前一個月至分娩期間不同時期的周遭空氣中懸浮微粒、二氧化硫、二氧化氮、臭氧、及一氧化碳等污染物的暴露情形。母親年齡、新生兒性別、新生兒胎數、及空氣污染暴露等危害因子與先天性缺陷發生的相關性分析則分別使用multiple logistic regression、factor analysis、及multiple linear regression等統計方法，評估危害因子造成先天性缺陷的勝算比及迴歸係數。

結果
　　民國90年至91年期間登記出生數為491,525人；男女性比例為109：100；平均出生體重為3091克；平均懷孕週數38週；母親平均年齡為28歲。先天性缺陷發生數為3377人，發生率為6.87 0/00；以肌肉骨骼系統缺陷的發生率最高 (2.09 0/00)。
　　人口變項與先天性缺陷發生的相關性分析發現母親年齡大於35歲與總神經系統缺陷、總心臟血管系統缺陷、心室中膈缺損、與染色體異常等缺陷的發生有相關。男性新生兒易有消化系統、泌尿生殖系統、及肌肉骨骼系統等方面的缺陷，而女性新生兒則較易發生顎裂。多胞胎發生神經系統缺陷、心臟血管系統、及尿道下裂的危險性會顯著增加，而單胞胎則較易發生染色體異常。
　　空氣污染與先天性缺陷發生的相關性分析發現發現受孕前一個月二氧化硫的高濃度暴露與唐氏症發生有負相關性 (Odds ratio (OR) 4th quartile, 0.42; 95% confidence interval (CI), 0.19-0.86 )、受孕當月臭氧的中高濃度暴露與唐氏症發生有正相關性 (OR3rd quartile, 2.47; 95%CI, 1.21-5.45 )、及懷孕第三個月期間懸浮微粒的低濃度暴露與顎裂發生有正相關性(OR2nd quartile, 2.21; 95%CI, 1.08-4.89 )。經由因數分析之後的結果發現汽機車排放與燃料燃燒排放的空氣污染暴露與唐氏症、唇裂、顎裂、唇顎裂、尿道下裂等先天性缺陷之發生皆無相關性存在。鄉鎮平均空污暴露與鄉鎮平均缺陷發生率的相關性評估亦未發現懸浮微粒、二氧化硫、二氧化氮、臭氧、及一氧化碳的暴露與任一缺陷之發生有相關性。

結論
　　人口變項如母親年齡、新生兒性別、及胎數等與先天性缺陷之發生有相關性存在，而空氣污染暴露與先天性缺陷的發生亦有相關性，但未有明確的劑量反應效應。

Background
　　Congenital anomalies are important medical and public health conditions. However, occurrence rate and risk factors are unknown in Taiwan. We used the medical practitioner-reported birth registry between 2001 and 2002 and the measurements from ambient air monitoring stations between 2000 and 2002 to determine the occurrence rate of individual congenital anomalies and their association with identified risk factors such as maternal age, fetal gender, plurality, and air pollutions.

Methods
　　The medical practitioner-reported birth registry was started in 2001 in Taiwan. We obtained this registry from the Department of Health, and translated the coding of congenital anomalies to ICD-9-CM. The occurrence rates of individual congenital anomalies were calculated. Each subject’s average monthly sulfur dioxides, nitrogen dioxide, ozone, carbon monoxide, particulate matter with aerodynamic diameter of less than10μm (PM10) exposure estimates during pregnancy were caculated. In addition, the levels of air pollutants for the time of conception and one month period prior to conception were also calculated. The effects of maternal age, fetal gender, plurality, and air pollutions on the occurrence of congenital anomalies were calculated by multiple logistic regression, factor analysis, and multiple linear regressionand to estimated odds ratios and β value.

Results
　　There were total 491,525 live and deceased births delivered between 2001 and 2002 in Taiwan, sex ratio was 107:100, the mean birth weight was 3,088 grams, the mean gestational age was 38 weeks, and the mean maternal age was 28 years. The occurrence rate of birth defects was 6.87 0/00 and is highest in musculoskeletal system anomalies.
　　We found total nervous system, total cardiovascular system, ventricular septal defect, and chromosomal anomalies were associated with maternal age of 35 years and older. Female births had more cleft palate, and risk for digestive system anomalies, uriogenital system anomalies, and musculoskeletal system anomalies were higher for males. Risk for chromosomal anomalies was higher for singleton, on the other hand, nervous system anomalies, cardiovascular system anomalies, and hypospadias were significantly more common in multiple birth.
　　We found Down’s syndrome was associated with the time one month period prior to conception sulfur dioxides exposure (odds ratio(OR)4th quartile,0.42, 95％confidence interval (CI): 0.19-0.86) and the time of conception ozone exposure (OR3rd quartile, 2.47; 95%CI, 1.21-5.45 ) , we also found cleft plate was associated with third-month PM10 exposure (OR2nd quartile, 2.21; 95%CI, 1.08-4.89 )。After adjust by factor analysis, we can’t found any relationship between traffic-related and fossil fuel combustion-related pollutants exposure and the occurrence of Down’s syndrome, cleft lip, cleft plate, and left lip/cleft plate. We also found there were no relationship between site-specific average annual air pollutants exposure and any occurrence of birth defects.

Conclusions
　　Maternal age, fetal gender, and plurality were associated with the occurrence of birth defects. Birth defects were also associated with air pollutants exposure, but lack of dose-response effect.

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台北市政府衛生局，優生保健手冊、台北市政府衛生局，台灣，民國88年

行政院衛生署，衛生統計. 二, 生命統計，行政院衛生署，台灣，民國90至91年

行政院衛生署，衛生統計動向，行政院衛生署，台灣，貳-5頁，民國90年

行政院環保署空氣品質及噪音管制處，環境年報，行政院環保署，台灣，民國89年至91年

吳素珍，當代產科護理學，杏輝圖書出版社，台灣，83-132 ，民國77年

周宇廷，台灣省縣市鄉鎮地圖集，大輿出版社，台灣，民國92年

陳永仁、陳雄文，環境衛生學，國立空中大學，台灣，27-36頁，民
國84年