Thursday, July 2, 2009

Down Syndrome (唐氏综合征)

It is everybody wish to give birth to a healthy and normal baby.

Unfortunately in real life thing may not happen according to our plan.

Some of the newborns might have congenital abnormality, such as Down Syndrome.

What is Down Syndrome?

It is a genetic problem caused by an extra chromosome-21.

What type of problems related to Down Syndrome?

1) Learning difficulty due to mental retardation
2) Inborn error in the formation of heart ( hole in heart)
3) Childhood leukemia
4) Poor social interaction and upbringing
5) Premature dementia

Am I at risk to deliver the Down Syndrome baby?

1) Age of pregnancy more than 35 years old generally increases the risk.
2) Any family member who had delivered a Down syndrome baby before.

Can I make sure my baby is not a Down Syndrome baby before the delivery?

Yes. The advance of medicine makes it possible for the doctor to diagnose this syndrome before the delivery.

Screening for Down Syndrome is commonly done nowadays.

Firsrt trimester blood test and ultrasound scan of at 12 weeks offer 90% of accuracy in detecting Down Syndrome.

Second trimester blood test at 16 weeks offers 70% to 80% of accuracy.

If my screening blood test was abnormal, what should I do?

If the screening blood test is abnormal, it means your chance of delivering a Down Syndrome baby is increased.
If you want to confirm it, you need to do amniocentesis.

What is amniocentesis?

By using ultrasound scan as the guide, the doctor will insert a needle into the worm to aspirate the amniotic fluid.

The amniotic fluid will be sent for chromosomal study.


lychee said...

Hai Dr Jason,

My question is:
1)my age is 25 years old and in family no one is down syndrome children, so is it i still need check the doen syndrome for my baby? I have go to Blood test lab for asking, but the doctor say i no need do it because i'm still young. This make me confuse.

your answer we are apreciated


Dr. Jason Ong said...

Hi! Lychee

Thank for your question.

Since you are still young, only 25 years old and there is no family history of Down Syndrome, the chance of giving birth to a Down Syndrome baby is low.

Medical research showed that at your age the chance of giving birth to a Down Syndrome stands at 1 in 1000.

It means every 1000 women pregnant at your age, only one will give birth to Down baby, compared with the risk of a 35 years old woman who stands at the chance of 1 in 350.

However, lychee, 1 in 1000 is not equal to zero!

Nowadays all the patients have very high expectation on their children. Every mother hopes to deliver a perfectly normal baby.

Furthermore, blood test and ultrasound scan to screen for Down Syndrome are easily done without any risk to the mothers.

In UK and US, blood test and ultrasound screening are offered to all pregnant mothers regardless their age.

We must think of the consequences of giving birth to the Down Syndrome baby, in term of emotional and financial burden to your family.


"Firsrt trimester blood test and ultrasound scan of at 12 weeks offer 90% of accuracy in detecting Down Syndrome."

Dr,is it this scan call Nuchal scan? Do you do this scan at your hospital?