孕前利用多疾病帶因篩檢 避免因胎兒異常被迫流產遺憾! https://www.top1health.com/Article/234/72579 【華人健康網 記者黃曼瑩/台北報導】 2019年1月28日 10:00

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註冊時間: 2013年 10月 15日, 07:38

2019年 1月 30日, 18:57

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孕前利用多疾病帶因篩檢 避免因胎兒異常被迫流產遺憾!
https://www.top1health.com/Article/234/72579

【華人健康網 記者黃曼瑩/台北報導】 2019年1月28日 10:00
生育率逐年下降,不孕人數增加,求子大不易,尤其大家對產下健康寶寶的要求也愈來愈高。隨著近年生殖醫學技術進步日新月異與遺傳諮詢的重要性受到關注,尚未懷孕的婦女多加利用孕前多疾病帶因篩檢,可以避免在不知情狀況下,因為懷有染色體的DNA異常胎兒,只好被迫忍痛在孕期中止妊娠,造成身體及心理上的傷害,徒留遺憾!

孕婦被迫妊娠中止 身體及心理上受傷害
臺北醫學大學附屬醫院不孕症科陳啟煌主任表示,曾經在8年前生殖醫學技術尚未成熟的年代,收治1名年齡28歲不孕的婦女想要求子,好不容易進行試管嬰兒因而一舉懷有雙胞胎,而且是龍鳳胎。為確保胎兒健康,進行胚胎著床前染色體篩檢(PGS)檢測,結果發現男胎有一個染色體的DNA片段遺失。此基因正好是主控大腦,因為擔心胎兒智力有障礙,只好在身心備受煎熬中,忍痛妊娠中止移除男胎。其實,類似這樣的遺憾是可以避免的,隨著科技的進步,現在可以提前做多疾病帶因篩檢,掌握遺傳疾病,以及懷孕時做羊膜穿刺加羊水晶片,即可檢查寶寶是否異常。
基因編輯惹爭議!遺傳疾病基因篩檢已成新趨勢
天下父母心,不怕一萬,就怕萬一!父母擔心將遺傳疾病傳給下一代,透過遺傳疾病基因篩檢,已經成為新趨勢!但是,如果採取人為有違反倫理、法律操作基因編輯,企圖利用這些新技術修改人類的活細胞 DNA,可能會引發一連串問題,非但無助於人類健康福祉,甚至可能會帶來人類的另一種「災難」。
大陸日前發表全球首見的基因編輯寶寶,為一對雙胞胎女嬰進行DNA改造,以防範未來不會感染愛滋病毒,即引起全球科學震驚與激烈辯論,科學家質疑並不安全,甚至有道德爭議。陳啟煌主任表示,原本基因改造的目的是好的,例如:植物基因改造的目的是抗蟲、抗病、抗旱等,希望農作物又大又甜又多;但是仍然隱藏基因污染、基因剪輯技術跨越特定物種的限制,反而會產生一發不可收拾的意外反應。
避免將遺傳疾病傳給孩子,孕前多疾病帶因篩檢降低生下異常胎兒機率
人類基因與疾病息息相關,帶有與隱性遺傳疾病相關的基因突變的人,有更高的機率會生下罹病的孩子。陳啟煌主任表示,生下下一代來自父母隱性基因的發病率雖然僅佔1/4,卻是為人所擔心有致命危機,例如:海洋性貧血就是一種隱性遺傳疾病,若父母雙方都帶有同型地中海貧血的隱性基因時,胎兒有1/4機率可能得到嚴重或致命的貧血。
其實,為了避免將遺傳疾病傳給自己的孩子,只需要透過孕前遺傳疾病篩檢,即能測知寶寶的罹病風險,建議採取多疾病帶因篩檢,將遺傳診斷提早至「懷孕前」,讓備孕夫婦提早做好準備,降低生下異常胎兒的機率。
人類基因的密碼有30億個核甘酸,但是有功能的只有2萬個基因,並有1萬個致病基因,每個人身上平均帶有3至5個隱性基因。如果要在懷孕前先測知下一代是否會遺傳到隱性遺傳疾病風險,根據國際醫學會建議,只要透過以非侵入性方式(抽血檢測)的多疾病帶因篩檢,採取1次評估多項單基因遺傳疾病,將遺傳診斷提早至「懷孕前」,可幫助備孕夫婦瞭解自身是否帶有相關遺傳疾病基因,以及後代的患病風險,提早做好準備,降低生下異常胎兒的機率,做到孕前的防守動作。
單基因遺傳疾病的種類繁多,常見疾病如海洋性貧血、脊髓性肌肉萎縮症、X染色體脆折症等,目前已知的單基因遺傳疾病綜合發生率高達1%。多疾病帶因篩檢可一次評估多項單基因遺傳疾病,讓每個人更了解後代的患病風險,降低生下異常胎兒的風險。想要了解自己是否為隱性遺傳疾病帶因者,或是計畫懷孕者,或已經懷孕者,都可以透過15種帶因篩檢+2項成人風險疾病找出問題。另外,有遺傳疾病家族史、血緣關係較近的夫婦、精卵捐贈者,也適用其中50、321種篩檢。
SNP羊水晶片檢測 找出基因微小片段缺失、更多罕見疾病
如果父母本身已經是遺傳疾病的高風險帶因者,並且想生下健康寶寶,在準備懷孕階段,可以選擇人工生殖或體外受精方式,同時配合超快速胚胎著床前基因診斷(PGD)技術,以抽血驗DNA的方式,檢測胚胎是否帶有致病的突變基因,再篩選出不帶突變基因的健康胚胎植入子宮以懷孕。
如果夫妻想做隱性遺傳疾病的風險檢測時,已經自然懷孕,在懷孕階段有以下情況例如:孕婦血清篩檢疑似胎兒異常、超音波檢查胎兒異常者,以及傳統染色體異常且需確認更細微染色體片段變異者,則可選擇在懷孕期間抽取SNP羊水晶片檢測法,探針高達269萬根,針對羊水中的胎兒細胞進行23對染色體的全部掃描,可檢測出比傳統羊水晶片更多染色體變異疾病,例如:小胖威力症、天使症候群等。
事實上,衛福部建議高齡產婦進行侵入性羊膜穿刺,檢查胎兒染色體是否異常,但是,羊膜穿刺檢查正常並不代表萬無一失,羊膜穿刺只能檢查染色體的數量與結構是否正常,無法看出是什麼疾病基因異常。不妨在抽羊水時,可多抽出10c.c進行羊水晶片做分析,透過SNP羊水晶片檢測,找出基因微小片段缺失、更多罕見疾病。相較於一般傳統晶片檢測密度高、涵蓋率更廣。
如果羊水晶片檢測發現基因異常,必要時可及早考慮引產,或是父母得知情況後,多諮詢遺傳專家做完整的考量與多方的分析,並不代表就一定需要中止懷孕,有許多不解的原因最終都可以透過遺傳諮詢獲得改善,孕婦仍然可以安然度過孕程,產下健康寶寶的心願。以及提早為照護寶寶做適當的調整,以預防和延緩疾病發作,是為胎兒健康全面把關的利器。
事實上,衛福部建議高齡產婦進行侵入性羊膜穿刺,檢查胎兒染色體是否異常,但是,羊膜穿刺檢查正常並不代表萬無一失,羊膜穿刺只能檢查染色體的數量與結構是否正常,無法看出是什麼疾病基因異常。不妨在抽羊水時,可多抽出10c.c進行羊水晶片做分析,透過SNP羊水晶片檢測,找出基因微小片段缺失、更多罕見疾病。相較於一般傳統晶片檢測密度高、涵蓋率更廣。
如果羊水晶片檢測發現基因異常,必要時可及早考慮引產,或是父母得知情況後,多諮詢遺傳專家做完整的考量與多方的分析,並不代表就一定需要中止懷孕,有許多不解的原因最終都可以透過遺傳諮詢獲得改善,孕婦仍然可以安然度過孕程,產下健康寶寶的心願。以及提早為照護寶寶做適當的調整,以預防和延緩疾病發作,是為胎兒健康全面把關的利器。
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文章: 1329
註冊時間: 2013年 10月 15日, 07:09
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2019年 2月 19日, 21:30

羊水晶片確實很重要
是父母送寶寶的第一份健康的禮物
但高層次也很重要喔

這兩者都過關,剩下的就是媽媽要控制體重,不要過度攝取醣類
注意血壓變化

你想要創造怎樣的世界
就要怎樣努力的不求回報 既然選擇了就義無反顧
如果你想傳達一種愛 就從自己做起 沒這麼困難
一種渺小而深遠的愛
寶派創辦人履歷 http://www.i-jway.com/克大履歷/
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