影響懷孕婦女對不同唐氏症篩檢選擇的因素與後續遺傳諮詢需求

Abstract

唐氏症是新生兒最常見的染色體異常，隨著篩檢工具及篩檢策略的演進，篩檢的偽陽性得以降低而偵測率則可以得到提昇。當孕婦有越來越多種不同的選擇，在遺傳諮詢時卻發現孕婦會因篩檢結果而遭遇到更多心理衝擊與疑惑。 本研究目的在瞭解孕婦接受唐氏症篩檢的種類及選擇的原因，並了解孕婦對篩檢的了解與接受度。採橫斷式調查性研究，對象為懷孕20~26週完成唐氏症篩檢或胎兒染色體檢查之孕婦，經個案同意後以問卷及相關產檢報告收集資料。問卷內容包括「個案基本資料」、「唐氏症篩檢種類」、「選擇篩檢的原因」、「接受胎兒染色體檢查的原因」、「對疾病及檢查的認知情形」及「對篩檢的接受度與諮詢需求」。 研究結果發現孕婦的年齡、教育程度、有無職業、及胎次等對唐氏症的認識並無差異。疾病本身相關知識、遺傳模式並不是孕婦最關注的部分，疾病篩檢流程在病患而言也是陌生複雜的概念，孕婦不認為或沒有充分的自信為自己做決定。因此決定篩檢的因素中最重要的仍是醫師建議，其次才是與篩檢本身有關的特性(準確率、費用)，除了專業人員，親友及網路資料也是影響孕婦選擇的重要因素。 唐氏症篩檢對大多數的孕婦而言可以符合其期待，而孕婦對疾病的焦慮也可藉篩檢而減輕，但他們在孕期中的諸多疑問仍需要諮詢協助。儘早開始、個別化的諮詢可以讓孕婦在進行篩檢前有更多時間思考，了解自己的價值取捨，做下符合個人需求的決定。

Objective Down screen has been widely used in clinical practice for decades. Pregnant women take the test as part of routine antenatal care; however, they only have limited knowledge about Down syndrome and the test they chose. The aims of this study are to (1) investigate factors influencing the choose of Down screen (2) identify the degree of perception about Down syndrome and screening test, and (3) comprehend the impression and demands of pregnant women after completing screening test. Methods A cross-sectional survey was undertaken to collect data from one community hospital and two clinic units. Women at 20 + 0 to 26+0 weeks' gestation receiving prenatal Down screen or chromosomal study were enrolled in this study. The survey queries include four parts: the demographic characteristics, perception about disease and test, type of tests and reasons of choosing tests, and demands after test. Participants used scales to indicate level of agreement with statement of questions. Demographic data were calculated with descriptive statistics and the correlation study was calculated with Spearman rank correlation analysis. Result In total five hundred pregnant women participated in this study. Women with conditions of multiple pregnancy, abnormal screening result, and known fetal anomaly in current or previous pregnancy were excluded. Three hundred and five women completing the queries were enrolled. Fifty out of seventy-six pregnant women of advanced age (34 years old and over) received chromosomal study without any screening test; two hundred and forty seven women received Down screen tests. Maternal age, parity, occupation, and education level are not correlated with the understanding of Down syndrome or screening test. 73.7% of the women had confident cognition about Down syndrome, and only 56.4% parents understood the etiology and inherit pattern of disease. More women concerned the accuracy of test (81.4%) and most of the participant (82.3%) understood that screen test is not a diagnosis. The quadruple test is most frequently used (46.2%), the next frequent is first trimester combine test (35.2%) and integrate test is less accepted (0.8%). The factors affecting decision making include suggestion from physician (67.2%), accuracy of test (32.8%), more disease can be detected at the time (12.6%), information from internet (12.6%), and introduced by relatives and friends(8.9%). 97.6% of the women reported that their expectation of screening test has been fulfilled. 86.6% of the women can comprehend the result, but 42.1% need more discussion about the detail of report. Though the degree of anxiety was alleviated in 89.5% after receiving test, 45.7% of pregnant women, especially nulliparous, still need counseling. Conclusion Down screen is not offered to all pregnant women. Only 27.6% women of advanced age receiving Down screen; most of them are perceived as being at high risk and encouraged to take chromosomal test directly. Information of disease and theories of tests are not the concern of women. Individual counseling should be provided to all pregnant women. Adequate information and time for consideration should be given by health professionals before conducting test.