Name: 什麼是唐氏綜合症（21 三體綜合徵）？唐氏綜合症（21 三體綜合徵）輕鬆易懂 (What is Down Syndrome (Trisomy 21)? Down syndrome (Trisomy 21) Made Easy)
Uploaded: 2025-05-09T16:18:58.000Z
Duration: 6 min 49 s

關係子句

Down syndrome is a genetic disorder in which a person has an extra chromosome.

唐氏綜合徵是一種遺傳性疾病，患者有一條額外的染色體。

Chromosomes are small packages of genes in the body.

They determine how a baby's body forms and functions as it grows during pregnancy and after birth.

它們決定著嬰兒在懷孕期間和出生後的成長過程中身體的形態和功能。

Typically, a baby is born with 46 chromosomes.

通常情況下，嬰兒出生時有 46 條染色體。

Babies with Down syndrome have an extra copy of chromosome 21.

患有唐氏綜合症的嬰兒有一個額外的 21 號染色體拷貝。

A medical term for having an extra copy of a chromosome is a trisomy.

醫學上把多出一條染色體稱為三體綜合徵。

Therefore, Down syndrome is also referred to as trisomy 21.

是以，唐氏綜合徵也被稱為 21 三體綜合徵。

This extra copy changes how the baby's body and brain develop, which can cause both mental and physical challenges for the baby.

這個額外的拷貝會改變嬰兒身體和大腦的發育方式，從而給嬰兒帶來心理和生理上的挑戰。

Even though people with Down syndrome might act and look similar, each person has different abilities.

儘管唐氏綜合症患者的行為和長相可能相似，但每個人的能力卻各不相同。

Many of the disabilities are lifelong, and they can also shorten life expectancy.

許多殘疾是終身性的，而且還會縮短預期壽命。

However, people with Down syndrome can live healthy and fulfilling lives.

然而，唐氏綜合症患者可以過上健康而充實的生活。

People with Down syndrome usually have an IQ in the mildly to moderately low range and are slower to speak than other children.

唐氏綜合症患者的智商通常在輕度至中度偏低的範圍內，說話比其他兒童慢。

Children and adults with Down syndrome have distinct facial features.

患有唐氏綜合症的兒童和成人都有明顯的面部特徵。

Though not all people with Down syndrome have the same features, some of the more common features include.

雖然並非所有唐氏綜合症患者都具有相同的特徵，但其中一些較為常見的特徵包括

A flattened face, especially the bridge of the nose.

A tongue that tends to stick out of the mouth.

Tiny white spots on the iris, colored part of the eye.

虹膜上的小白點，眼睛的有色部分。

A single line across the palm of the hand, palmar crease.

Small pinky fingers that sometimes curve toward the thumb.

Shorter in height as children and adults.

Down syndrome remains the most common chromosomal condition diagnosed in the United States.

唐氏綜合症仍然是美國最常見的染色體疾病。

Each year, about 6,000 babies born in the United States have Down syndrome.

美國每年約有 6,000 名新生兒患有唐氏綜合症。

This means that Down syndrome occurs in about 1 in every 700 babies.

這意味著每 700 個嬰兒中就有 1 個患有唐氏綜合症。

About 95% of people with Down syndrome have trisomy 21.

約 95% 的唐氏綜合徵患者患有 21 三體綜合徵。

With this type of Down syndrome, each cell in the body has three separate copies of chromosome 21 instead of the usual two copies.

在這種類型的唐氏綜合症中，體內的每個細胞都有三個獨立的 21 號染色體拷貝，而不是通常的兩個拷貝。

This type accounts for about 3% of people with Down syndrome.

這種類型約佔唐氏綜合症患者的 3%。

This occurs when an extra part or a whole extra chromosome 21 is present, but it is or, translocated, to a different chromosome rather than being a separate chromosome 21.

這種情況是指 21 號染色體存在額外的部分或整個額外的部分，但它是或易位到不同的染色體上，而不是單獨的 21 號染色體。

This type affects about 2% of the people with Down syndrome.

約有 2% 的唐氏綜合症患者屬於這種類型。

馬賽克的意思是混合物或組合。

For children with mosaic Down syndrome, some of their cells have three copies of chromosome 21, but other cells have the typical two copies of chromosome 21.

對於馬賽克唐氏綜合徵患兒來說，他們的部分細胞有三個 21 號染色體拷貝，但其他細胞只有典型的兩個 21 號染色體拷貝。

Children with mosaic Down syndrome may have the same features as other children with Down syndrome.

馬賽克型唐氏綜合徵患兒的特徵可能與其他唐氏綜合徵患兒相同。

However, they may have fewer features of the condition due to the presence of some cells with a typical number of chromosomes.

不過，由於存在一些具有典型染色體數目的細胞，它們可能具有較少的病症特徵。

There are two basic types of tests available to detect Down syndrome during pregnancy, screening tests and diagnostic tests.

用於檢測孕期唐氏綜合症的基本檢查有兩種，即篩查檢查和診斷檢查。

A screening test can tell a woman and her healthcare provider whether her pregnancy has a lower or higher chance of having Down syndrome.

篩查測試可以告訴婦女和她的醫療保健提供者，她的孕婦患唐氏綜合症的機率是低還是高。

Screening tests do not provide an absolute diagnosis, but they are safer for the mother and the developing baby.

篩查檢測並不能提供絕對的診斷結果，但對母親和發育中的嬰兒來說更為安全。

Diagnostic tests can typically detect whether or not a baby will have Down syndrome, but they can be riskier for the mother and developing baby.

診斷測試通常可以檢測出嬰兒是否患有唐氏綜合症，但對母親和發育中的嬰兒來說風險較大。

Neither screening nor diagnostic tests can predict the full impact of Down syndrome on a baby, no one can predict this.

篩查和診斷測試都無法預測唐氏綜合症對嬰兒的全部影響，沒有人能預測這一點。

Screening tests often include a combination of a blood test, which measures the amount of various substances in the mother's blood, example, MSAFP, triple screen, quad screen, and an ultrasound, which creates a picture of the baby.

篩查檢查通常包括血液檢查（測量母親血液中各種物質的含量，如 MSAFP、三重篩查、四重篩查）和超音波檢查（為胎兒成像）。

During an ultrasound, one of the things the technician looks at is the fluid behind the baby's neck.

在超音波檢查過程中，技術人員會查看胎兒頸部後面的液體。

Extra fluid in this region could indicate a genetic problem.

該區域多餘的液體可能預示著遺傳問題。

These screening tests can help determine the baby's risk of Down syndrome.

這些篩查測試有助於確定嬰兒患唐氏綜合症的風險。

Diagnostic tests are usually performed after a positive screening test in order to confirm a Down syndrome diagnosis.

診斷檢查通常在篩查呈陽性後進行，以便確診唐氏綜合症。

Chorionic villa sampling, CVS, examines material from the placenta.

絨毛取樣（CVS）檢查胎盤中的物質。

Amniocentesis, examines the amniotic fluid.

Percutaneous umbilical blood sampling, PUBS, examines blood from the umbilical cord.

經皮臍帶血採樣（PUBS）檢查臍帶血。

These tests look for changes in the chromosomes that would indicate a Down syndrome diagnosis.

這些檢測可發現染色體的變化，從而診斷出唐氏綜合症。

Some people with Down syndrome might have one or more major birth defects or other medical problems.

有些唐氏綜合症患者可能有一個或多個重大先天缺陷或其他醫療問題。

There's no cure for Down syndrome, but there's a wide variety of support and educational programs that can help both people with the condition and their families.

唐氏綜合症無法治癒，但有各種各樣的支持和教育計劃可以幫助患者及其家人。

In these programs, special education teachers and therapists will help your child learn.

在這些計劃中，特殊教育教師和治療師將幫助您的孩子學習。

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什麼是唐氏綜合症（21 三體綜合徵）？唐氏綜合症（21 三體綜合徵）輕鬆易懂 (What is Down Syndrome (Trisomy 21)? Down syndrome (Trisomy 21) Made Easy)

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