Down Syndrome Test : A Yes or No?

Since my age is catching up, there is so much I need to do to ensure that the baby is safe and sound in my tummy. There is a lot of concern about many things when I am pregnant at this older age. So much things have been running through my mind. And for those who are not aware, The risk for chromosome problems increases with the mother's age. The chance of having a child with Down syndrome increases over time. The risk is about 1 in 1,250 for a woman who conceives at age 25. It increases to about 1 in 100 for a woman who conceives at age 40.

And these are some of the things we look about and get prepared for the bad times for sure. We had read a lot online and some of the data which captured our attention from this website had give us more attention and also the expectation. 

We had also get some advice from gynae and experts where there are two non-invasive genetic tests which is FTS and NICC. So, we get to know each better and we started to google about it to find out more and understand the whole scenario and everything. 

What is Down Syndrome?

A bit more science here. Basically, each of us comes with 46 chromosomes ( which is 23 each). owever, the 21st pair of chromosomes in Down's syndrome patients is abnormal, and there is an extra third chromosome, which becomes a chromosome. Therefore, the appearance of Down syndrome patients will be different from that of normal people. In addition, it can also cause growth retardation, and may also suffer from congenital diseases, such as heart disease, eye disease, and easy infection.

And Down Syndrome is actually a genetic disease that is not due to family background, gender and etc. One of the things that need to be known is On average, 1 out of every 800 babies in the world is a person with Down syndrome. The risk of prevalence also increases with the mother's age. The prevalence between 20 and 24 years old is 1 in 1250; 35 years old is 1/400; 40 years old is 1/106; 45 years old is 1/25; 49 years old is 1/11. Therefore, doctors will recommend Down’s screening for pregnant moms over 35 years old.

Ultrasound Screening 

Ultrasound Screening is the normal way to determine. This screening is the most common screening where they use ultrasound to measure the aby’s neck zona pellucida (the so-called NT Scan) + maternal blood draw to make a risk assessment. The diagnostic accuracy rate is as high as 95%; the risk can be said to be zero. As this test is basically rely on the doc profesionalism as well as this assesment results maybe vary as well. 

Amniocentesis 

It is one of the common ways to get the test. As for women above 35 years and with the results of "high risk:, this is another test to do the testing. Here, the test is using a long needle and poke thru the mummy's belly to take the sample of the amniotic fluid for screening under ultrasound scanning. The best period is 16 to 17 weeks of pregnancy; the result is more accurate than the previous two, up to 99%. But the risk is also relatively high-it may lead to miscarriage (very low probability). 

Non-invasive (or "non-invasive") chromosomal genetic testing

Amniocentesis and chorionic puncture are invasive tests, so what is a non-invasive chromosomal genetic test? This is the first trimester screening (FTS) and NICC (also called NIPT). This two is similar and both of them is to draw the blood of the mother's body and combined with ultrasound to excess if the baby is normal or abnormal. In here, not just detecting Down syndrome, FTS and NICC can also detect chromosome 18 (Edwards Syndrome) and chromosome 13 (Patau Syndrome). Since the blood is drawn from the mother's body, FTS and NICC will not bring any risk to the mother and the baby.

Testing cycle -FTS is carried out from 11 to 13 weeks of gestation; NICC can be carried out at 9 weeks of gestation ( but it is recomended on the 11 -12 weeks cause the mother and baby blood will mix better), and some are also tested for targeted micro-deletion syndrome in the second trimester (approximately 22 weeks).

Accuracy -FTS up to 95%; NICC up to 99%.

Screening syndrome types – FTS is only used to check Down Syndrome, Edwards Syndrome, Patau Syndrome these three staining trisomy screening tests; NICC can not only detect these three syndromes but also can do whole chromosome screening, like gender determination, Sex chromosome abnormalities, microdeletion syndromes. And NICC also comes with gender info as well. 

Price: We had asked a few clinics for both NICC and FTS. So, the charges will be around RM 1600 for NICC test. 

Should you take NICC test? Is it a MUST? 

There are so many questions that arise whether you need or you do not need one. This is always many people's doubts. But in Malaysia, it is not compulsory to do the test and it depends on the individual. Some doctors will recommend at least doing the neck zona pellucida thickness scan to assess the risk. If the test result is abnormal, a more detailed screening test will be recommended based on the situation.

As we had learned and read from the internet and advice from some doctor friends, in addition to ultrasound scans, other screening tests are recommended to:

❤️Pregnant women 35 years of age or older

❤️Have a family/hereditary medical history

❤️Previous miscarriage/abnormal embryonic development

In regards to this, there are so many things that will definitely play in your mind and these are few things you may need to consider? 

1. Why do you need the screening? ( Is it for the peace of mind? Is it because the doc ask you so?)

2. What if the screening results are abnormal ( Will you choose to keep or give up the baby) 

It actually depends on the individual. If you feel that you will continue to give birth no matter is good or bad, honestly you do not need to do these screening. This is because you had decided to take care of him/her regardless is defective of not. Unless, the results will assured you more and get you more prepared. 

If you have other thoughts of giving up the baby if is defective, then you can do the screening. 

There is of course pro and cons and this had been in my mind for few weeks undecided a yes or no. Honestly, there is so much playing in my mind for few weeks on this and analyzing everything a yes or a no. 

There are some who say about inhumanity when give up on the baby and it maybe cruel and feel that Okay~ even if he has a problem, I will keep him." Anyone can say these great benevolence and righteousness ~

But sometimes, putting back to the shoes of the people who face it. Taking care of abnormal children is a life responsibility. And one of the things that come to my mind is what if I died and what's is their life after that. Or even they have siblings, will they take care of him/her? There are so much that i had witness where there are so much of problems whern taking care of a family member who can't take care of themselves, and there will be quarels, and left them alone in the homes and all. 

Some how or other, there is no right or wrong. So, consider or maybe analyze them on your own.

Experience on NICC Test

Overall it is a quick test and the doctor will actually tell you in details what are the test and what to expects. There are few package to look at such as the basic, half, or full and each of them is priced differently. What they do is they will do the blood test and after 2 weeks you will get your results. 

 Do consult your doctor whether which of these you should go for and what's the best for you.

* NOTE: Pls note that we are not doctors and we share according to our experience and what we had learn. If there is any wrong information, do let us know.