October 23, 2009

The Down Syndrome scare

The obstetrician who delivered Yan Yan was the second obstetrician we consulted during my pregnancy. What happened to the first? Well, we ditched him after he gave us a nasty scare about carrying a Down Syndrome (DS) baby.

At my 12th week check-up with the first obstetrician, Dr. T, he performed the nuchal translucency scan, and mine measured about 1mm, which is within the normal range of up to 2mm. At the 16th week, he performed the triple test. I got a call from him the very next day, informing me that the test came back positive, showing that I had an increased risk of carrying a DS baby. I was calm when I received the news, as I knew that the sensitivity of the test is only about 60%, and there's quite a high false positive rate. Nevertheless, I promptly trawled the Net for more information and the more I read about it, the more worried I became. I called him back the next day to discuss further, and found out that the results came back that my risk was approximately 1/200, while the normal risk for my age is approximately 1/350. He suggested that I do an amniocentesis, which I wasn't really keen on doing, due to the risk of miscarriage. All this happened just before our trip to Yogyakarta, so that totally spoilt my mood for the trip. But my gut feeling told me that my baby was fine, and interestingly, hubby had the same feeling too.

Upon our return from Yogyakarta, we seeked a second opinion from Dr. R, a former professor who specializes in problematic pregnancies. In our first consultation, he told us that his method of screening for DS was slightly different. He would perform a different blood test in the first trimester, and if the blood test indicated an increased risk, then only would he measure the nuchal translucency. He questioned the wisdom of doing the triple test, which is less sensitive compared to the nuchal translucency scan with 80% accuracy – it's like taking a step backwards. But since my triple test results came back as such, he couldn't refute the results.

Anyway, he offered to perform a thorough anomaly scan to look for structural abnormalities associated with DS - primarily the head, heart and kidneys. After looking at the scan, he told us that all the major organs looked perfect to him. He also said the distance between the thumb and index finger for a DS baby is normally far apart, and the thumb is normally very small (if I'm not mistaken). But my baby didn’t show any of these characteristics. In a nutshell, he reassured us that the baby should be fine and the chances of her being a DS baby is <1%. He didn't think we should bother with doing an amniocentesis. But he did caution us that two of his patients (28yo and 30yo) who had all normal test results and scans, turned out to be DS baby. But to us, as long as he opined that our baby was fine, we were reassured. After all, he's seen enough complicated pregnancies, and has the experience to predict with reasonable certainty whether the baby was normal or otherwise. And after his good prognosis, had our baby really turned out to be a DS baby, then I suppose it's really God's will.

I didn't have the courage to share this earlier, lest the worst really happened. Now that all's well, I thought perhaps it's a story worth sharing and preserving.

I should also add that I'm truly blessed that Dr. R agreed to take me in as his patient, as he normally doesn't accept new patients planning a normal delivery. His new patients are mainly complicated pregnancies, or those planning a C-sect birth. He had told me upfront that he would follow me through to 20+ weeks, after which he would pass me on to either of his two partners. As he was still seeing me by my 30th week, I asked him if I should start following-up with his partners. I was pleasantly surprised when he said that since he had been seeing me thus far, he'd follow through with my delivery. I guess I've to thank my lucky star, and THANK YOU Dr. R, for being such a patient, kind and gentle doctor.


Elaine said...

Thanks for sharing this and I can really relate to this.

I am currently going through the same dilemma. My blood test ( I am not sure if that is a triple test or the blood test your Dr R suggested) shows that 1 out of 148 possibility I am carrying a DS baby, however all my scan seems fine. Doc also suggested to go for amnio but hub and me don't feel like it and gut feeling telling me that baby will be fine.

Liew said...

Mmmm and you din even tell us, lucky Yan Yan is normal :)

Btw, the correct spelling is Down's Syndrome ;)

Hui-Wearn said...

Dr. R was my gynae as well in my 1st pregnancy! He's an expert in complicated pregnancies (i had an ovarian cyst when i was pregnant with my son). My 2nd pregnancy was with one of Dr. R's partners.

KittyCat said...

Wow...I'm such a basket case I can see why Hubby isn't keen on any tests!

I don't know if there's a 100% probability test for fetal abnormalities yet, ya?

Amnios are a no-no for me too - gosh, it's already hard to get pregnant, who would wanna risk a miscarriage just for the sake of knowing???

I think a lot of women go for these "tests" (no thanks to scary marketing brochures & tactics) without a clear idea of what the test does and how to read the test results.

Having said all that, I'm up for a check-up soon and praying that the baby has turned herself down! She was still breech 2 weeks ago...

Dr. R sounds like a great gy (hahaha, pun intended)!

BuffaFly said...

i had a friend who's test came back as 1/50 risk. the baby came out perfectly fine.

as with amniocentesis...what's the point of doing it...if it came back positive, would you have aborted the pregnancy?

anyway, glad all is fine.

A Mom's Diary said...

Elaine - you must be undergoing emotional turmoil now trying to decide the next step. Have you done the anomaly scan? If that is normal, then highly unlikely for your baby to be a DS baby.

WK - you all knew I changed gynae what. There must be a reason why I did so ma.

HW - hehe..yup yup. Read about it in one of your posts.

Kittycat - these tests are only screening test, unfortunately amnio is the only test for 100% certainty. Your baby still breech? If I'm not mistaken, baby in subsequent pregnancies normally turn much later so your baby may leave it to the last minute to perform her acrobatic act :-)

Buffafly - a colleague's SIL just had a positive test and was advised to go for amnio too. SIGH! Sometimes, not testing is better to avoid unnecessary worries and stress.

ryeli said...

wow, sorry to hear that you have to go through all that worry throughout your pregnancy.

i did the triple test too as much as my hubby objected to it. i just needed to know although i know i won't do the amnio test (if need be).

my colleague who's wife went thru the test and it came back positive (and decided not to do anything) went thru the remaining months of the pregnancy worried like mad, only to find a healthy baby in the end. so he swore that he would never ever do that test again.

i guess this is part of one's believe. i just did it to know as i don't want any surprises later on.

anyhow, glad all worked out well for you.

Angeleyes said...

I guess most of us would be worried if we receive such news ya?

When we asked our ob/gyn abt the test, he cautioned us that if anything wrong, we would have to terminate the pregnancy. And since it was such a difficult chance to get preggy, we decided to get a blood test done and if really there's a prob, then we will have to reconsider.

Luckily the blood test came out fine so we are spared the trauma of going for the amio test.

Like you'd said, if the baby really came out to be a DS baby then it is God's will....

I prayed and hope that God won't be so cruel to us...

A Mom's Diary said...

Angeleyes - I think it's common for the test to turn out to be false positive, but not false negative - so if your blood test is fine, then baby is likely to be well so don't worry about it.