<<肝臟鈣化點? 那是甚麼?>>

耍廢太久，再來超音波文~
（是說今天這個題目也有點太簡單 🤣）

今天下午的高層次超音波中，有一位是意外發現肝臟鈣化點，除此之外胎兒的結構都正常。

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肝臟鈣化點發生率大概1/1000-1/1750。
雖然說單純的鈣化點意義不明，但是幾篇文獻都指出，排除了 #染色體和 #先天性感染的問題 之後，單純的肝臟鈣化點基本上不會造成寶寶生理上的問題，出生後預後也很好。

🔎相關的先天性感染有哪些?
STORCH最主要 (syphilis, toxoplasma, CMV, rubella, HSV, parvovirus B19, VZV)

🔎相關的染色體異常有哪些?
只要有肝臟鈣化點(不管是否合併其他異常) ->染色體異常比率大約18%
常見是trisomy 13，其他像是唐氏症或是trisomy 18等也是會發生。

🔎是否會合併其他超音波異常?
我們常擔心的 #先天性感染，像是 #巨細胞病毒感染或 #弓漿蟲之類，常會 #合併其他超音波的異常，如腦室擴大、腦部鈣化點、胎兒水腫等等。
#染色體異常也是，通常都會合併其他超音波的異常發現。

🔗先天性感染請見巨細胞病毒產前診斷的文章: https://drjessicakang.blogspot.com/2021/05/blog-post_67.html

但是重點來了!
單獨的肝臟鈣化點還是有可能合併先天性感染或是染色體異常!

🔎是否會有其他遺傳性疾病?
種族不同，相關的疾病也不同:。西方人較常見的cystic fibrosis也被指出和肝臟鈣化點有相關，但是這個疾病在台灣人種發生率低，所以並不常一起驗。

另外，鈣化點位置有差嗎? 鈣化點數量會影響預後嗎?

更多詳細的介紹請看文章:
https://drjessicakang.blogspot.com/2021/07/blog-post_23.html

#肝臟鈣化點
#胎兒超音波
#產前診斷
#先天性感染
#染色體異常

唐氏症候群（英語：Down syndrome、Down's syndrome）也稱21-三體症（英語：trisomy 21）、先天愚型，
部分地區俗稱國際臉，是21號染色體的三體現象造成的遺傳疾病。
常見症狀有發育遲緩、不同的面部特徵（英語：Dysmorphic feature）以及輕度到中度的智能障礙。唐氏症青年人的智商大約接近八歲到九歲兒童的心智年齡，但也有些差異較大。目前唐氏症並無有效的治療方法。

今天參加世界唐氏症日公益音樂會，現場溫馨隆重有很多表演團體是長期一直在配合著希望能夠盡一點心力，必須給這些團體大大的鼓勵👍👏🏻👏🏻👏🏻！

#桃園市唐氏症家長協會特辦理這場公益音樂會，有古典優雅和熱情震撼的中西音樂精彩展現。活動精神是由金曲歌手欒克勇老師擔任的唐氏症公益大使，今年傳承給金曲金鐘獎長笛演奏家華姵老師，#希望拋磚引玉讓社會大眾看見唐寶寶天真活潑、和平天使 的一面，給他們多一些鼓勵、包容關懷，#支持唐氏症青年用音樂展現自己對社會的貢獻與價值，#也讓唐氏症的家照者同感榮耀。

👂繼眼睛鼻子之後，五官系列下一發: 耳朵👂

耳朵基本上很簡單，就是看他的大小和相對位置
(絕對不是因為是連假所以偷懶?)

#大小

我們會量測兩邊耳廓的大小，有數據可以讓我們查表對照各個週數的耳朵大小百分比。

🔎數字太多很難記？
一般來說做高層次超音波的週數，大於一公分的耳朵大部分不會有太大問題～

🔎另外也會看它的形狀是不是一般正常的形狀？還是只有長出一球小肉團？或是完全找不到外耳？
但如果要看耳朵的形狀看命盤可能就得等出生後了⋯⋯

#相對位置

唐氏症或是其他染色體異常，有時候會合併一些顏面異常，像是低位耳。

耳朵之於臉的相對位置，超音波底下看有時候沒出生後看那麼準確，但此時3D超音波能給我們一些概念跟判斷的輔助。

✏️唐氏症的軟指標確實都很軟？

因為超音波異常在唐氏症患者身上有時較不顯著，甚至是超音波完全正常的都有。因此很難以單一超音波指標來高度懷疑唐氏症。

第13對，第18對染色體數量異常，或是透納氏症患者，則常常會有多重超音波異常。

🔎文獻指出，耳朵大小和唐氏症/其他染色體異常有高度關聯。

🔎單純小耳或是小耳+其他超音波異常，染色體數量有異常的機率也會增加。

🔎如果在高風險族群(高齡,篩檢高風險)發現有小耳朵，強烈建議做染色體檢查。

#也有大耳相關的染色體異常喔

透納氏症的患者耳朵通常較明顯(但也有小耳的案例)；trisomy 4p也是耳朵較大，且耳輪(helix)型態有異常。

因此兩耳👂雖然是一個很快的篩檢，也能給我們一些重要資訊唷！

#聽力本身沒辦法靠超音波檢查
#就算聽力篩檢過了孩子還是常常聽不到你說的話呀

[Read Me]

On 28th February, I probably had one of the hardest days of my life. I was told that our baby was screen positive in the NT scan. Our baby was in the high risk category for down syndrome. I wasn't told much but just that we would have to wait a whole week before we can see a doctor. On that day, I never knew I could cry out so many tears. I suddenly felt the overwhelming love for our baby. I think I realised how it really felt to be a mother. I realised that pregnancy/motherhood is not all rainbows and butterflies. I realised just how lucky I am to have such an amazing husband.

So in this Heart to Heart, I just share my experiences through the past few weeks. It's really tested our hearts and our patience. We held on to our faith and in the end, the Lord saw us through it all. I had never felt His presence like this before. Now I know how much love I have for our baby.

Now 3 weeks onwards with more test results. A rainbow has finally appeared after our storm. We were the 5% who were given with a false positive screening. Our baby went from having a 1/123 to 1/billion chance with Trisomy 21. Did our private doctor scam us into doing the expensive test? We'll never know and it doesn't matter. We're feeling so lucky and blessed right now.

We actually went for a baby check up today. Baby is super healthy and getting stronger by the day. Remember, most screen positive babies are born without down syndrome. Please mummies, don't worry yourself sick like I did. I hate myself for allowing myself to cry so so much... But I will spend the rest of my pregnancy smiling and laughing to make up to Peanut =) They say the mother can telepathically communicate with her baby. I really hope he/she knows how sorry I am.

I want to give a huge shout out to ALL the mothers out there. You are all amazing. I just feel so inspired by you guys out there. I have even more respect to the parents who are bringing up a child with down syndrome. You are absolutely amazing. It was reading your experiences that really helped us remember that no matter what happens, everything will be ok as long as the baby is born safely into the world. Every child is precious. Especially to their own parents. As Tim says, hey! It's just an extra chromosome!

I also want to say, reading your letters has helped me so much during our waiting period. I felt so much love. We receive an overwhelming amount of letters so I can't reply to most of you. However, I read EVERY single letter and I cherish each one. Thank you yet again for helping me pass through a difficult time once again.

Love, your friend Bubz xx



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Much love, Bubz xx