“Your baby has been
flagged as ‘high risk’ for chromosomal abnormalities” – the words no pregnant
women ever wants to hear.
I always thought that
falling pregnant was supposed to be this exciting time that leaves you
literally ‘glowing … and for a vast majority of women it really is. For others
like myself who suddenly find themselves thrown into the "high risk" category,
it can be a real nightmare riddled with stress, uncertainty and many scary
And when it comes to
those tests, I bet you a million bucks that there isn’t a single pregnant woman
out there who is excited by the prospect of having to run the gauntlet of
needles. I know I wasn’t thrilled. In fact, I was absolutely terrified.
The test I was
dreading the most? An amniocentesis…
So, what exactly is an amnio?
An amniocentesis is
essentially a medical procedure in which a large, hollow needle is inserted
through a pregnant woman’s abdomen into her uterus. A small amount of amniotic
fluid (about 10ml) containing foetal tissue is then extracted so that it can be
screened for chromosomal abnormalities like Trisomy 13, 18, and 21.
This fluid is sent
away to a lab where they grow the extracted cells in a culture. The baby’s
chromosomes are then examined under a microscope. It takes about two weeks to
get the results for a full karyotype and a few days if it’s run as a FISH test
(a faster testing method). As this is a diagnostic test, the results of an
amnio are accurate and definite: either your baby has abnormalities or not.
Yup, sounds like fun,
In my case, I was
flagged as "high risk" for Trisomy 18 (a chromosomal abnormality called Edwards Syndrome) at my 12 week scan. Following that
appointment I chose to have a non-invasive genetic test in the hope that it
would to rule out a positive diagnosis for Trisomy 18, but it came back as
inconclusive. In order to get a definitive diagnosis (because I had to
know if my baby was OK) my doctors advised that I proceed with an
Read more: 10 things I wish someone had told me about the 1st trimester
Are there risks?
Well, a needle is
being inserted into your amniotic sack right next to your baby so yes, there
are risks involved. The procedure should be performed between 16–18 weeks
gestation with the aid of ultrasound-guidance so that the needle is inserted in
an area away from the baby. If the procedure is performed incorrectly it can
cause a miscarriage, infection or birth defects. Invasive testing caries a
generalised miscarriage risk of 1:200 according to the South African Society of
Obstetricians and Gynaecologists (SASOG), and about one in
every 150 to 200 women who have an amniocentesis will miscarry as a result of
it, according to Lancet Labs.
Does it hurt?
I don’t know how you
feel about needles, but personally I’m not a massive fan. I always find them
painful. So to say I was a "nervous wreck" for the two weeks leading up to the
procedure would be an understatement. My palms would literally sweat when I
thought about my baby being accidentally poked. However when I arrived at
the Fetal Assessment
Centre for my amnio I was remarkably calm … like weirdly Zen.
Before whipping out
that monster of a needle for the procedure, the doctor did a full scan of my
baby and explained what she was going to do to me. She wiped down my abdomen
with antiseptic (yes, no anaesthesia), held the ultrasound to keep an eye on
the baby and told me to take a deep breath. I closed my eyes and grimaced while
she inserted the needle. Literally a minute later it was all over.
I somehow managed to keep my nerve,
mainly because my doctor was wonderful and my husband was incredibly calm on
So, did it hurt? I
can honestly say that I felt zero pain. It feels more like ‘pressure’ … as if
someone is pressing on your abdomen from the inside. That’s the best way I can
After patching me up
with a plaster, a cup of tea and a little 20-minute lie down I was ready to
head home to rest in bed.
The next day my abdominal area was a
tad tender and I experienced mild cramping (similar to light period cramps),
but that was it.
Read more: 6 prepregnancy tests every woman should consider
How much does it cost?
It depends where you
have your procedure done, which medical scheme you’re with and whether the
sample is being run for a full Karyotype or as a FISH test, but the cost can
range between R5 000 and R9 000 (this was the price range quoted for my case). If
you’re having an amnio as a "high risk" patient, your medical scheme might
cover the full cost of the procedure.
Should you do invasive testing?
If you screen as "high risk" for one of the chromosomal abnormalities your doctor might suggest
you consult with a genetic counsellor or advise you on doing further testing. At
the end of the day invasive testing is a personal decision, and you ultimately
need to decide what is best for you and your baby.
Looking back at my
personal experience, I now know that I if I were to fall pregnant again and was
advised to have an amnio for a second time, I’d be able to handle it.
To be honest, waiting
for my amnio results was way more stressful and far more agonising than having
that needle inserted into my stomach. Hindsight, right?
Image credit: iStock