nuchal fold in 20 week ultrasound causing distress

"alath" wrote in message
oups.com...
Thirdly, don't bother with the ECG. I had one during my 2nd pregnancy
because I had gestational diabetes (2nd time) and it can increase the
likelihood of heart defects. I was having twins and both twins showed no
signs of heart defects when they did the ECG. My duaghter with Down
syndrome was born with 3 holes in her heart -- tiny ones, but ones that
we
were told they had looked for and told us didn't exist.

Ultrasound fetal heart study is not a perfect technology, and I'm sorry
you learned that the hard way, but that doesn't mean it's totally
useless. It is very hard to detect heart defects, especially very small
ones. But often we are able to detect heart defects, and sometimes
those results can have life-saving implications in the newborn's care.


An ECG is not going to rule out Down syndrome if you're looking for signs of
heart defects because there are many that are too small to see. And an ECG
would not necessarily rule out esophageal atresia or some of the other
disorders associated with Down sydnrome. I guess my point was that an amnio
would probably be a better test to take to determine if the baby has Down
syndrome before doing an ECG.

FWIW, my duaghter's heart surgery was not done until she was four and that
was at my insistence even though she showed no signs of heart failure (very
high energy child). All the echocardiograms that she'd had done since birth
had shown very little leakage across her septal defects (two ASDs, one VSD
but not a complete AVSD or endocardial cushion defect as it used to be
called). The heart catheterization that was done days prior to her surgery
(and a few weeks after an ECG) showed a *significant* amount of undetected
leakage, about 25% of her oxygenated blood was recirculating to the lungs.
This only reinforced my lack of confidence in ECGs. It was only my
"mother's intuition" which told me that we needed to go ahead and do the
surgery before she reached the point that she did not develop irreversable
damage from pulmonary hypertension.

Leigh in raLeigh

An ECG is not going to rule out Down syndrome if you're looking for signs of
heart defects because there are many that are too small to see. And an ECG
would not necessarily rule out esophageal atresia or some of the other
disorders associated with Down sydnrome. I guess my point was that an amnio
would probably be a better test to take to determine if the baby has Down
syndrome before doing an ECG.

Well, that is the same trade-off between diagnostic uncertainty (with
ultrasound) and risk of complications (with amnio) that is still the
crux of testing decisions in antenatal diagnosis. You're right that
ultrasound can never rule out trisomy 21, but ultrasound findings can
modify the odds for an individual and for some, that can be important
in deciding what to do next. From k_raps perspective, if the ECG
appears normal, you're right, that doesn't rule out Down syndrome. But
if a structural heart defect is detected, that plus the thickened
nuchal skin fold does demonstrate a higher risk which for some people
might be the difference between justifying an amnio or not. For others,
the diagnosis of aneuploidy itself would not affect their management
decisions and they might not want an amnio under any circumstances but
they might change their delivery plans (or place) if a structural heart
defect was detected. All of which is to say that even imperfect
technologies can be helpful depending on what the individual or
family's priorities are and what the landscape of their choices looks
like. There is no one forumla that is going to work for everybody.

I have the same condition as you, everything else is normal except nachal fold which is 6.4 in my case at 20 weeks ultrasound and I had amino test which showed everything is normal, but I am still worried. Can you please tell me what happened in your case.