不孕症 遺傳諮詢 2

692 views

Published on

  • Be the first to comment

  • Be the first to like this

不孕症 遺傳諮詢 2

  1. 1. 人工流產的臨床考量      何師竹 台中榮民醫院婦產部
  2. 2. 人工流產的母體合併症 (官方手術說明書) <ul><li>感染:極少數感染會造成子宮內膜炎、輸卵管炎、骨盆腔炎症或流產後敗血症,甚至會因而感染造成休克死亡。 </li></ul><ul><li> 不完全流產:容易發炎或造成大量出血。 </li></ul><ul><li> 出血:嚴重失血以致造成肺栓塞、腦部受損、心臟停止甚至死亡。 </li></ul><ul><li> 組織傷害:極少數,但情況嚴重時甚至須緊急施以腹腔鏡或剖腹手術探查: </li></ul><ul><li>1. 子宮頸裂傷:可能造成日後受孕困難、子宮頸閉鎖不全甚至早產。 </li></ul><ul><li>2. 子宮內膜受損:少數會因子宮內膜腔沾黏造成阿休曼式症候群,術後子宮腔積血、經血量少、甚至無月經;或日後造成不孕症及復發性流產。 </li></ul>
  3. 3. 人工流產的母體合併症 (官方手術說明書) <ul><li>3. 子宮穿孔 :造成腸道損傷併發腹膜炎、腹腔膿瘍或併發腹內出血,嚴重可至休克 死亡 。 </li></ul><ul><li>4. 子宮破裂 </li></ul><ul><li>5. 神經損傷 </li></ul><ul><li> 嚴重出血時需要輸血,伴隨 輸血的危險 包括: </li></ul><ul><li>1. 感染 2. 溶血性輸血反應 </li></ul><ul><li>3. 血量負荷過大、鬱血性心衰竭、肺水腫、輸血性抗宿主反應等合併症。 </li></ul><ul><li> 與麻醉有關之併發症 :藥物過敏反應、神經作用、心跳過緩或停止,休克。 </li></ul>
  4. 4. 人工流產對長期身心健康上的後果 Long-Term Physical and Psychological Health Consequences of Induced Abortion:Review of the Evidence OBSTETRICAL AND GYNCOLOGICAL SURVEY 2007 V58:67 <ul><li>One can presume that abortion is most often chosen as a response to a crisis or unintended pregnancy. The high prevalence of history of induced abortion means that even small positive or negative effects on long-term health could influence the lives of many women and their families. </li></ul>Abortion rate  1996 U.S.A. 23 / 1000 #  Women Age 15 to 44 # 26% all recognized pregnancy 1995 Canada 16/1000 England 15/1000 Sweden 18/1000 Netherland 6/1000
  5. 5. Obstetric Ethics : (the fetus as a patient) 胎兒也是產科醫師的病人 <ul><li> The pregnant women has beneficence-based obligations to the fetus because she is its moral fiduciary . She is expected to protect and promote the best interests of her fetus. </li></ul><ul><li>孕婦是胎兒的法定代理人,有嘉惠胎兒的義務,被預期會保護及促進胎兒的權益。 </li></ul>
  6. 6. Obstetric Ethics : (the fetus as a patient) 胎兒也是產科醫師的病人 <ul><li>The physician also has beneficence-based obligation to the fetus, </li></ul><ul><li>to protect and promote its interests. </li></ul><ul><li>醫師也有嘉惠胎兒的義務,會保護及促進胎兒的權益。 </li></ul><ul><li>The beneficence model : </li></ul><ul><li>prevention of premature death, disease, handicapping conditions, </li></ul><ul><li>and unnecessary pain and suffering. </li></ul><ul><li>嘉惠原則:預防其提早死亡、疾病、殘障及不必要的受苦。 </li></ul>
  7. 7. 優生保健法 第三章 人工流產及結紮手術 第九條 懷孕婦女經診斷或證明有左列情事之一者,得依其自願, 施行人工流產。 <ul><li>﹟ 一、 本人或其配偶患有礙優生之 遺傳性、傳染性疾病或精神病者 </li></ul><ul><li>﹟ 二、本人或其配偶之 四等親以內之血親 患有礙優生之 遺傳性病者 </li></ul><ul><li> 三、有醫學上理由,足以認定懷孕或分娩有招致 生命危險或有害 </li></ul><ul><li>身體或精神健康者。 </li></ul><ul><li>﹟ 四、有醫學上理由,足以認定 胎兒有畸型發育之虞者 </li></ul><ul><li>五、因被強姦、誘姦或與 依法不得結婚 相姦而受孕者 </li></ul><ul><li>六、因懷孕或生產, 將影響其心理健康或家庭生活者 </li></ul><ul><li>本項 佔台灣 95% 的人工流產 </li></ul><ul><li>有配偶者,依前項第六款規定,施行人工流產應得配偶之同意 </li></ul>
  8. 8. <ul><li>Prenatal diagnosis 產前診斷 </li></ul><ul><li>Genetic counseling 遺傳諮詢 </li></ul><ul><li>Screening 篩檢 </li></ul>為「優生」施行的流產涉及 :
  9. 9. 非引導性的遺傳諮詢與同意書 Informed consent and Nondirective genetic counseling <ul><li>Disclosure by the physician to the patient of adequate information 醫生提供足夠資訊 </li></ul><ul><li>2. Understanding of that information by the patient 病患對資訊充分了解 </li></ul><ul><li>3. A voluntary decision by the patient to authorize or refuse clinical managemant 病患自主決定授權或拒絕處置 </li></ul>
  10. 10. Ethical and legal considerations in screening, detection, and management of fetal anomalies <ul><li>to provide emotional support to the stressed pregnant woman in circumstances of ;    在下列情況提供孕婦情緒支持 </li></ul><ul><li>Screening 篩檢 </li></ul><ul><li>confirmatory testing 確定檢查結果 </li></ul><ul><li>giving bad news 給壞消息 </li></ul><ul><li>making abortion decisions 作流產的決定 </li></ul><ul><li>making management decisions after viability 留存胎兒的處置決定 </li></ul><ul><li>to help the pregnant woman make informed </li></ul><ul><li>management decisions based on her values and goals . </li></ul><ul><li>以幫助孕婦根據她的價值觀與目標,做出正式的處置決定 </li></ul>產科醫師的責任 Duty of the obstetrician
  11. 11. 產前診斷及發現異常之諮商的兩難情況(一) Dilemma in Prenatal Diagnosis and Counselling After Disclosure ( I ) <ul><li>Small Neural tube defect? 小的神經管缺陷 </li></ul><ul><li>MSAFP↑Normal level II ultrasound, normal karyotype </li></ul><ul><li>AFAFP ↑, AF Acetylcholinesterase ↑ </li></ul><ul><li>Grand multiple pregnancy 超高胎數的懷孕 </li></ul><ul><li>Third Trimester prenatal diagnosis 妊娠後期診斷 </li></ul><ul><li>Preference of discolosure of the sex of fetus </li></ul><ul><li>是 否告知胎兒性別 </li></ul>
  12. 12. <ul><ul><ul><li>無腦兒 </li></ul></ul></ul><ul><ul><ul><li>全水腦(空腦症) </li></ul></ul></ul><ul><ul><ul><li>嚴重複雜性心臟疾病合併心臟衰竭 </li></ul></ul></ul><ul><ul><ul><li>致死性遺傳性胎兒多囊性腎臟 </li></ul></ul></ul><ul><ul><ul><li>雙側性腎臟發育缺失 </li></ul></ul></ul><ul><ul><ul><li>致死性骨骼發育異常 </li></ul></ul></ul><ul><ul><ul><li>甲型致死性地中海型貧血 </li></ul></ul></ul><ul><ul><ul><li>其他致死性遺傳或代謝疾病 </li></ul></ul></ul>妊娠 24 週以後合法中止懷孕適應症
  13. 13.      內發現,宜於足月產後矯治     Detectable in Utero but Best Corrected After Delivery at Term <ul><li>Esophageal, duodenal, jejunoileal, and anorectal atresias. </li></ul><ul><li>Meconium peritonitis ( localized lesion without fetal ascites ) . </li></ul><ul><li>Small intact omphalocele. </li></ul><ul><li>Uncomplicated gastroschistis. </li></ul><ul><li>Unilateral multicystic dysplastic kidney </li></ul><ul><li>Small intact myelomeningocele & spina bifida.. </li></ul><ul><li>Small sacrococcygeal teratoma. </li></ul><ul><li>Ovarian cysts. </li></ul>
  14. 14. 唇腭裂的產前照護 Obstetrical ManagementAntepartum for Cleft Lip and Palate <ul><li>Careful survey by Ultrasonography 詳細超音波 </li></ul><ul><li>Karyotyping : controversial 染色體 </li></ul><ul><li>Follow up once a month 每月追蹤 </li></ul><ul><li>Polyhydramnios 羊水量 </li></ul><ul><li>Missed additional defect 是否遺漏其他異常 </li></ul><ul><li>Standand obstetrical care if no other anomalies 標準產科照護 </li></ul><ul><li>Delivery at a tertiary center 醫學中心生產 </li></ul><ul><li>Respiratory & Feeding problems 處置呼吸及餵食問題 </li></ul>
  15. 15. 需提前娩出子宮外作矯治 May Require Induced Preterm Delivery for Early Correction Ex Utero <ul><li>Obstructive hydronephrosis. </li></ul><ul><li>Obstructive hydrocephalus. </li></ul><ul><li>Amniotic band malformation complex. </li></ul><ul><li>Complicated gastroschisis or ruptured omphalocele. </li></ul>
  16. 16. 產前診斷及發現異常之諮商的兩難情況(二) Dilemma in Prenatal Diagnosis and Counselling after Disclosure ( II ) <ul><li>45,X ; 47,XYY ; 47,XXY 、 XX-male 性染色體異常 </li></ul><ul><li>Androgen insensitivity 雄性素不敏感(無反應器) </li></ul><ul><li>Trisomy Mosacism 鑲嵌性染色體 </li></ul><ul><li>Inherited balanced translocation 遺傳性染色體平衡轉位 </li></ul>
  17. 17. 篩檢唐氏症的代價太高? The Cost of Choice: A Price Too High in the Triple Screen for Down Syndrome.   Elkins,et al. Clinical Obs/Gynecology, V36:532-540 <ul><li>Some fetal anomalies clearly bring greatly diminished life expectancy ( ancephaly and trisomy 13 or 18). Other fetal conditions ( Tay-Sachs disease or AIDS) lead to extreme infant suffering. </li></ul><ul><li>These are vastly different from Down’s syndrome , the discovery of Genetic traits, rather than disorders , would not be seen as important enough to warrant such extensive screening. </li></ul><ul><li>             </li></ul>
  18. 18. 篩檢唐氏症的代價太高? The Cost of Choice: A Price Too High in the Triple Screen for Down Syndrome. <ul><li>We argued against attaching a price tag to persons with Down’s syndrome. Determining cost effectiveness is franght with difficulties. 唐氏症並非預期生命短(無腦兒、第13、18對染色體3倍等),亦非嬰兒嚴重受苦(代謝異常、愛滋病等),所以可視為遺傳上的變異而非疾病。我們反對將生命加以標價。 </li></ul>
  19. 19. 產前診斷及中止懷孕所引發的倫理議題 Ethical problems raised by prenatal diagnosis and TOP <ul><li>難下終止懷孕的決定 </li></ul><ul><li>◎ minor anomaliy </li></ul><ul><li>◎ 誰知孩子的未來? </li></ul><ul><li>◎ 滑坡理論 </li></ul><ul><li>擔心異常兒童在‘優生社會’的處境。 </li></ul><ul><li>允許醫師決定生死,使醫師的角色不合理。 </li></ul><ul><li>女性懷孕過程充滿壓力,將造成心理上的後遺症,破壞孕期及出生後的親子關係。 </li></ul><ul><li>部分醫事人員承認終止懷孕比兒童虐待好。 </li></ul>
  20. 20. 國人有更多的兩難 More dilemma in our practice <ul><li>    The tradition of sexual discrimation is still strong 性別偏見仍強 </li></ul><ul><li>    No consensus about the ‘beginning of human life’ 對生命起源無共識 </li></ul><ul><li>    The legal status of fetus is ambiguous. </li></ul><ul><li>    胎兒法律地位未明 </li></ul><ul><li>    </li></ul>    Human diginity and rights are the consecrated and inviolable gift of creator to mankind . Medicine is an art of healing which take place in object with knowing, feeling, willing and endowed right .    人類的尊嚴與權利是造物主所授予神聖不可侵犯的禮物。醫學是醫治的藝術,施之予有知、情、意及賦有人權的個體身上。

×