探討羊膜穿刺結果胎兒性染色體異常家庭之生育決策歷程

Abstract

民國74年行政院衛生署開始實施優生保健法，鼓勵高齡及可能生育先天缺陷兒婦女接受羊膜穿刺檢查，以瞭解胎兒的健康狀況。2002年衛生署統計台灣婦女羊膜穿刺異常結果中，18%為性染色體異常。性染色體異常特徵常是非致命性且甚至可能完全無症狀，因此在產前有限的時間內決定是否繼續懷孕則變成案家最困難的抉擇。本研究探討羊膜穿刺結果胎兒性染色體異常家庭之生育決策歷程，並進一步發展其生育決策歷程理論，提出遺傳諮詢建議，以期能更貼切協助羊膜穿刺結果性染色體異常家庭進行生育決策。 本研究採用個案研究法，依賴理論命題及時間序策略，並以決策樹分析羊膜穿刺結果胎兒性染色體異常家庭之生育決策歷程。於南部某醫學中心婦產科遺傳諮詢門診進行收案，該門診於2004-2009年共有43位羊水性染色體異常個案，其中有16位終止妊娠，比率為37.2%。從這43個家庭中徵詢13個家庭之意願，最後取得4個家庭同意參與研究，以回溯性方式多元收集個案家庭進行生育決策之相關資料，共蒐集17篇田野記錄，6篇逐字稿，建立4個個案資料庫。在資料分析結果顯示，4個家庭中，決定繼續懷孕的2個家庭其產前羊水結果及生育決策歷程主題分別為[45,X[8]/46,XX[30]-尋找寶寶健康的證據，不輕言放棄!!]及[47,XXY-不忍心終止新生命，在專業諮詢中堅定信心。]；而決定終止妊娠之羊水結果及生育決策歷程主題分別為[47,XXX-需要很大的勇氣才能承擔未來的挑戰。]及[47,XYY-希望寶寶不要輸在起跑點!!]。 進行跨個案分析，於複現邏輯中發現個案均透過求醫諮詢及網路搜尋各類資料，持續確認胎兒的健康狀態；於懷孕情境脈絡下，基於個人的價值信念及決策經驗，與家庭、社會文化影響下進行家庭磋商，逐漸勾勒出家庭可接受的孩子樣貌，衡量[胎兒的健康狀態]與[可接受的孩子樣貌]後，以進行最後的生育決策。透過本研究讓醫療人員能同理其家庭之生育決策歷程，從中分析醫療人員對案家確認胎兒健康狀態認知之影響。建議以中立態度進行遺傳諮詢提供充分資訊協助案家做決定，及建立台灣羊膜穿刺結果性染色體異常家庭追蹤系統，以提昇遺傳諮詢品質。

Since 1985, the Genetic Health Law has provided the amniocentesis examination to advanced maternal age and suspected of babies with congenital defect for the families to understand babies’ health conditions. According to the Department of Health report in 2002, there were 18% sex chromosome abnormalities from abnormal results of amniocentesis. Sex chromosome abnormalities are often not fatal and even completely no symptoms; hence, to make a decision of whether keeping the fetus or not during the limited prenatal time becomes the most difficult choice of the client’s family. This study aimed to explore the reproductive decision-making process of family that the amniocentesis result was fetal sex chromosome abnormalities by the case study method, developed the reproductive decision-making process theory further, proposed suggestions of genetic counseling, and helped the families that the amniocentesis results were fetal sex chromosome abnormalities to make a reproductive decision.

The adopted case study depended on the theoretical propositions and time series strategy, and the decision tree was used to analyze the reproductive decision-making process of family that the amniocentesis result was fetal sex chromosome abnormalities. The research collected the cases at the genetic counseling outpatient clinic of the obstetrics and gynecology department at a medical center in Southern Taiwan; the outpatient clinic had 43 cases of amniocentesis sex chromosome abnormalities during 2004~2009, there were 16 cases terminating the gestation, and the rate was 37.2%. The researcher solicited consent of 13 families from these 43 families, eventually obtained 4 families’ agreement to participate in the research, and the retrospective study and diversified way were utilized to collect the relevant data of the case families’ making the reproductive decision. The research gathered 17 pieces of field study records, 6 pieces of verbatim script, and established 4 case databases. Among the 4 families’ data analyses, the prenatal amniocentesis results and reproductive decision-making process themes of the families that decided to continue the pregnancy were “45, X〔8〕/46, XX〔30〕--searching for the fetus’ proof of being healthy, and not giving up easily” and “47, XXY—being not hardhearted enough to end a new life, and steadying the faith from professional consultation” respectively; the prenatal amniocentesis results and reproductive decision-making process themes of the families that decided to terminate the pregnancy were “47, XXX—needing a really great courage to undertake the future challenge” and “47, XYY—hoping that the baby does not lose at the starting point” respectively.

From replication logic, it was found that each case constantly confirmed the fetus’ health condition through the process of seeking medical advice and consultation, and via the internet to search the information. Under the scenario of pregnancy, depending on the personal value and belief and the decision-making experience in the past, and under the influences of family, society and culture, gradually sketched the contours of the child’s appearance that could accept, and made the final reproductive decision after measuring “the fetus’ health condition” and “the acceptable child’s appearance.” The research made the medical staff be able to empathize the families’ reproductive decision-making course, and analyzed the medical staff’s influence on the client’s family’s cognition of confirming the fetus’ health condition; the research’s suggestion is to do the genetic counseling with a neutral attitude, provide amply information to assist the client’s family to make the decision, and establish Taiwan’s tracing system of families that the amniocentesis results are fetal sex chromosome abnormalities in order to elevate the genetic counseling quality.