【基因説 】S2E2備孕期的「隱形風險」：為什麼身體健康的夫妻也需要遺傳諮詢？

身體健康，不等於基因沒有隱患。

醫學研究顯示，平均每人帶有3至5個隱性遺傳基因變異，這些「錯別字」不影響自身健康，卻可在家族中靜靜潛伏幾代。香港每20對夫婦，就有一對是同一疾病的攜帶者，但他們卻從不知情。

本集遺傳諮詢師及節目主持Yoyo深入講解「攜帶者（Carrier）」與「隱形風險」的概念，並介紹備孕必知工具——擴展型攜帶者篩查（Expanded Carrier Screening，ECS）。

ECS可一次過篩查數百種隱性遺傳病，包括SMA、脆性X綜合症等，讓夫婦在懷孕前掌握主動。即使發現雙方同為攜帶者，仍有多條可行路線，包括產前診斷及胚胎植入前基因檢測（PGT-M）。

遺傳諮詢不是宣告「你們有問題」，而是把複雜的基因數據翻譯成可行方案，讓你從「隱形風險」走到知情選擇的踏實規劃。

English summary is available 中文摘要也在此：https://wp.me/pcCd6O-hH

Reference:

Chau, J. F. T., Yu, M. H. C., Chui, M. M. C., Yeung, C. C. W., Kwok, A. W. C., Zhuang, X., Lee, R., Fung, J. L. F., Lee, M., Mak, C. C. Y., Ng, N. Y. T., Chung, C. C. Y., Chan, M. C. Y., Tsang, M. H. Y., Chan, J. C. K., Chan, K. Y. K., Kan, A. S. Y., Chung, P. H. Y., Yang, W., Lee, S. L., … Tang, C. S. M. (2022). Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese. NPJ genomic medicine, 7(1), 23. https://doi.org/10.1038/s41525-022-00287-z

Chan, O. Y. M., Leung, T. Y., Cao, Y., Shi, M. M., Kwan, A. H. W., Chung, J. P. W., Choy, K. W., & Chong, S. C. (2021). Expanded carrier screening using next-generation sequencing of 123 Hong Kong Chinese families: a pilot study. Hong Kong medical journal, 27(1), 177–183. https://doi.org/10.12809/hkmj208486 

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本節目內容僅供一般健康教育與資訊參考之用，並不構成任何形式之醫療建議、診斷或治療指示。  
如你對個人健康、基因檢測結果或醫療決定有疑問，應諮詢具相關資格的醫療或遺傳專業人員。  

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我們的使命是：讓你理解基因，也理解自己——而非取代專業判斷。

Transcript

開場 — 健康的人，基因也有「錯別字」？

SPEAKER_00 0:01

Hello, friend of the game. Hodosy, a different tongue, Yung. So da lei. Johnny go call him Gon Teng Cho.

發現雙方同為攜帶者，然後呢？

SPEAKER_00 12:26

Losing A Dahe D Yan Gunju G hub Tanting Gay and Tandun. Losing B to hai halo food sunset gation. If you PGTM Gumhei Boytoid Yapti Gung T Hai Sai Shun Chimboan bang a boy. Gumden de foot haiyan zi net or hoy cobbo t yapge hikin hong water zi hai quai die boy toi Gumlo Sinsi the hai tipsoga gay wood in tan tingle. Tong sida do cho di chan bay da hai moolungo baby chong fong yo. Doyo cho get some le chan bay tomaiu ti wo liu guai as I make a gay and se lum sinti ho yea hai diasigan cu ting junga yin lo sing di hemala the hai y young grun zang geting ti what a hello and some di howlo lenga. Com to her ho ye ba de gardanger ho ying than halo sunigosin e hai mala. Gum yao di fotei how ye sungo lo sina, gum jo yangan ho yingt and halo, doing joyho m silpan yao. Gumogo gossa let a couple de foot haia haiun chun yuga mw till rosinga fo ego la. Lei baida toma hollango. In how let's a bong code being a till low high joyful hop code they learn go yan do gather, tomai foon him gega go and gazakuna. Jung zose and season. Easy hai madai white transition see hai mo tongai la ying go you gambing a t all the gong job my bonage or could think ye cobo like a cuting hai chung fangal gichi hai jo change.

ECS注意事項

SPEAKER_00 16:03

Easy as hai ho y die for gon dai or the game may phon him gohan sang jung or they do your sang second told on the gohan yu go fiu ashong yi bob and gang ping yi. S Junzi lady jun phonato mse ging uh two her was you fail your joyo. Jo la isong hai y and you gasigan to my hong gana her how high a boying go yon journey. You go fong him gum ling boon ya moo some la jumbe yet her me doy he gai said yfang bogum gandana codaya go so you learn go and yet gong tong tam you got

總結 & 下集預告

SPEAKER_00 18:19

a jojonki fan gum yakaloyong law, and I'm not a Father gumma joy shogumtai, don't or de don foot hai gum gin hong dim gajung usual white chun season, my young lady yumante y he young lady yao kune. In the flood I be jong or de yago sub gai in tin the chong loid moi and sit in the eye, and then it's a few.