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 How many did Amniocentesis?, Test for genetic disorders

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TSauhckw
post Jan 4 2011, 04:44 PM, updated 15y ago

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What is amniocentesis?

Amniocentesis is a prenatal test that allows your healthcare practitioner to gather information about your baby's health from a sample of your amniotic fluid. This is the fluid that surrounds your baby in the uterus.
Inside pregnancy: Weeks 15 to 20
A 3D animated look at a baby in the second trimester of pregnancy.

The most common reason to have an "amnio" is to determine whether a baby has certain genetic disorders or a chromosomal abnormality, such as Down syndrome. Amniocentesis (or another procedure, called chorionic villus sampling (CVS) can diagnose these problems in the womb.

Amniocentesis is usually done when a woman is between 15 and 20 weeks pregnant. Though all women should be offered the option of having an amnio, women who choose to have this test are primarily those at increased risk for genetic and chromosomal problems, in part because the test is invasive and carries a small risk of miscarriage.

Here are a few other reasons that amniocentesis may be done:

* To assess the maturity of your baby's lungs when considering an early delivery for medical reasons (unless it's clear the baby needs to be delivered immediately regardless of lung maturity
* To diagnose or rule out a uterine infection
* To check on the well-being of your baby if you have a blood sensitization, such as Rh sensitization. This is a complex condition that can occur if your blood is a different type than your baby's. (Note: Obstetricians are increasingly using Doppler ultrasound for this purpose instead of amnio.)

More: http://www.babycenter.com/0_amniocentesis_327.bc
TSauhckw
post Jan 4 2011, 04:55 PM

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I would like to share my experience.

When we first got our first baby, on the 4th month the doctor asked us to do the blood test. One of the profile is to test for down syndrome. The problem with the blood result check for down is known for not accurate. It can only tell you the probability based on the parents age and the baby's month. It will only tell whether it is high risk or not.

Unfortunately, my wife's result came back with high risk of down. It nearly torn our heart apart. Doctor said that it may not be true as younger couples risk is lower. We were at age 30/31 then. So he suggested us to do the Amnio test. It cost us about RM1500. The process requires 2 doctor. The doctor will look from the ultrasound and then poke a very very very long needle from the stomach and extract 2 bottles of fluid from the water bag. Entire process is about 15 minutes (from scanning, cleaning and retrieval of the fluid).

The result will only come back after 2 weeks+. The wait is killing. If the result is not good, there is only 2 choice. Keep the baby or Abort. I didn't know how to face it. Everyday was like suffering.... but after the long wait.. the result came back normal and it can tell you the exact gender of the baby based on the chromosome... and is a boy smile.gif

Now we are expecting our 2nd baby, and again my wife blood result came back with high risk of down. The nurses were surprised also cause normally it is rare to have 2 times showing down. So we did the amnio test again.. this time RM1600. Waited 3 weeks.. and the result just came back few minutes before I posted this. Result is normal... thank god... and my upcoming baby is girl rclxms.gif icon_idea.gif

This post has been edited by auhckw: Jan 4 2011, 04:57 PM
TSauhckw
post Jan 4 2011, 05:02 PM

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There is a chance (very low) of miscarriage if amnio is not done right, therefor doctor will ask you to sign a document before he does the procedure. He said if there is any problems, the day or next day itself will show sign.

Amnio is also recommended to be done for older couples who are trying regardless of the blood test result.
merchant9
post Jan 4 2011, 05:23 PM

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Yes, we did it too.

On the 16th week, the other gynae (not hospital) was supposed to check the thickness at the back of the neck to see if its down syndrome. He didnt recommend blood test. Obviously just watching the ultrasound was not good enough for us.

We went through what your wife did and got the result like you said. It was a boy but a relief. Yes, the process is dangerous and we signed the papers too.

Thank God everything is OK!
moorish
post Jan 5 2011, 01:50 AM

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congratulation, thank god the result came back negative.
beyond
post Jan 5 2011, 07:37 AM

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No. I didn't go for it. Was not indicated. In the gov hospital, it's only indicated if the parents have family history and age factor comes into the picture too. But nevertheless, it's really up to the couple to decide (private). But make sure the doctor gave you a good briefing and info about the procedure prior to signing.
budakjahat
post Jan 5 2011, 09:29 AM

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I didn't do any amniocentesis. Never felt the need to do it in the first place. If any of our child has Down Syndrome, or any other type of illness, mental or physical, I guess we'll just deal with it.
Syd G
post Jan 5 2011, 10:50 AM

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I'm curious. If amniocentesis gives bad result, what are you guys going to do anyway?
TSauhckw
post Jan 5 2011, 11:10 AM

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QUOTE(Syd G @ Jan 5 2011, 10:50 AM)
I'm curious. If amniocentesis gives bad result, what are you guys going to do anyway?
*
I dare not even think about that, but doctor said it depends on how ready the parents are mentally/emotionally/financially/commitment level cause baby with down is something not every parents can handle.
Syd G
post Jan 5 2011, 11:43 AM

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In gov hospitals, AFAIK only 35+ or 40+ (cant recall which one) mothers will be asked to do amnio.
MsBelinda
post Jan 5 2011, 12:44 PM

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If both couple are still in early 30's, dont u think its abit ridiculous to have a DS baby? Furthermore, late marriages is a trend lately, which means that DS babies cases will raise?
zstan
post Jan 5 2011, 12:59 PM

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yes.....your chromosomes are more prone to mutation and not splitting properly during anaphase 2......
wlcling
post Jan 6 2011, 12:33 AM

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to share expereince on this down syndrome subject, we had the Nuchal translucency scan which is a simple ultrasound scan at about 12 weeks to measure the fluid thickness at the back of the neck. My wife came back high-risk as it was about 2.5mm which is borderline case even though she's below 30... after that went for further blood test which thank god showed low risk.

Anyway basically nuchal translucency tests and blood tests have been known to cause alot of anxiety to parents as many babies turn out fine after that...

QUOTE(Syd G @ Jan 5 2011, 10:50 AM)
I'm curious. If amniocentesis gives bad result, what are you guys going to do anyway?
*
it causes slight chance of miscarriage but its the only sure fire way to highly confirm down syndrome... with the results, you can choose to abort or start to prepare mentally that you will have to take care of a down-syndrome child. If not wrong, you have to make the decision fast, as after a few weeks, you won't be legally allowed to abort the baby anymore (not sure if this applies to malaysian law)
moorish
post Jan 7 2011, 12:02 PM

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if remember correctly, the test is only 75% accurate right?
TSauhckw
post Jan 7 2011, 01:57 PM

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According to what the doctor said, it is 100% accurate.
phythia79
post Jan 8 2011, 09:46 AM

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I had a friend who went throught the excrutiating 2-weeks wait for the results and luckily it was negative.

When it was my turn, I decided not to go for it as I don't want to worry for that 2 weeks and if the results is bad, it'll be another long journey of worry. Even though it's good to prepare (if results were bad), I'd rather accept it as what god gave me...and not given the choice on what should I do (keep the pregnancy or abort)...

 

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