Re: Pregnancy Complications (VSD, SUA)

[Ericka Kammerer]

Ashirus wrote:

> Hi. My wife is pregnant with her first child. I'm 22, she's 20, she's now in
> her 30th week and the 21st wk ultrasound found that she has a single
> umbilical artery (SUA) and so we were told to get a foetal echocardiography.
> This was performed yesterday and the foetus was discovered to have 2 to 3
> Ventricular Septal Defects (VSD) of "small-to-moderate" size:
>
> to quote the relevant bit of his report:
> "Normal right and left ventricular size and function, 2-3 muscular VSDs - A
> 3mm apical, 2mm mid-muscular and possibly another 1mm mid-high muscular VSD.
> 6MMHG shunt is seen (no PS)."
> the rest of his report reports everything's fine.
>
> The doctor said that this may be a sign of one of the "syndromes".
>
> The 21st week ultrasound revealed no other defects or deformities, so we
> want to know what the chances of the child being born being with a syndrome
> is, given these factors? Is the doctor right? Should we worry?
>
> Does anyone know the chances of this number (2-3) of defects of these sizes
> at this "age" closing spontaneously either before or after birth?

Without doing a lot more looking, I can't give you
a number. SUA and VSD *are* associated with an increased
risk of certain trisomies (though not so much trisomy 21,
which is Downs Syndrome). However, more babies with either
of those conditions do *not* have chromosomal problems.
VSD is among the most common cardiac complications in
otherwise normal babies. A good two thirds of babies with
SUA have no other complications.
Whether you should worry or not is probably a moot
question, as I suppose it's nearly impossible *not* to worry
to some degree! I certainly wouldn't panic, though.

Best wishes,
Ericka

[Chotii]

"Ericka Kammerer" > wrote in message
...
> Ashirus wrote:
>
> > Hi. My wife is pregnant with her first child. I'm 22, she's 20, she's
now in
> > her 30th week and the 21st wk ultrasound found that she has a single
> > umbilical artery (SUA) and so we were told to get a foetal
echocardiography.
> > This was performed yesterday and the foetus was discovered to have 2 to
3
> > Ventricular Septal Defects (VSD) of "small-to-moderate" size:
> >
> > to quote the relevant bit of his report:
> > "Normal right and left ventricular size and function, 2-3 muscular
VSDs - A
> > 3mm apical, 2mm mid-muscular and possibly another 1mm mid-high muscular
VSD.
> > 6MMHG shunt is seen (no PS)."
> > the rest of his report reports everything's fine.
> >
> > The doctor said that this may be a sign of one of the "syndromes".

Well, the doctor is right. It *MAY* be a sign of one of the "syndromes". But
then again, maybe it's just a simple congenital/developmental defect. Let
me tell you my story:

When I was pregnant with my twins, at about 18 weeks (I was being followed
very closely), my smaller twin was discovered to have an SUA and a heart
defect. The perinatologist went (in the course of one conversation) from
telling me it *could* be a sign of a genetic defect (syndrome) to "Yes, it
probably is." Then she suggested that in our situation, some people would
choose to abort the pregnancy.

I was unhappy about this.

When my twins were born, yes the one with the SUA and the heart defects was
sick. Yes she spent a lot of time in the hospital, and yes she had heart
surgery (at the age of 4 months). But she does not have any genetic defects,
and you couldn't tell by looking at her (clothed) that she was ever a sick
baby. (Naked, of course, she has her surgery scars.)

And I'm still irritated about the whole 'could be' --> 'must be' --> 'you
might want to abort' progression. It was not based on any evidence at all.

If you're worried enough about a syndrome, and you're willing to take the
risks associated with an amniocentesis, they can rule out genetic defects
definitively for you. Or you can wait, and take what comes, and love your
little girlie for everything she's worth.

--angela

[Leigh Menconi]

"Ericka Kammerer" > wrote in message
...
> Ashirus wrote:
>
> > Hi. My wife is pregnant with her first child. I'm 22, she's 20, she's
now in
> > her 30th week and the 21st wk ultrasound found that she has a single
> > umbilical artery (SUA) and so we were told to get a foetal
echocardiography.
> > This was performed yesterday and the foetus was discovered to have 2 to
3
> > Ventricular Septal Defects (VSD) of "small-to-moderate" size:
> >
> > to quote the relevant bit of his report:
> > "Normal right and left ventricular size and function, 2-3 muscular
VSDs - A
> > 3mm apical, 2mm mid-muscular and possibly another 1mm mid-high muscular
VSD.
> > 6MMHG shunt is seen (no PS)."
> > the rest of his report reports everything's fine.
> >
> > The doctor said that this may be a sign of one of the "syndromes".
> >
> > The 21st week ultrasound revealed no other defects or deformities, so we
> > want to know what the chances of the child being born being with a
syndrome
> > is, given these factors? Is the doctor right? Should we worry?
> >
> > Does anyone know the chances of this number (2-3) of defects of these
sizes
> > at this "age" closing spontaneously either before or after birth?
>
> Without doing a lot more looking, I can't give you
> a number. SUA and VSD *are* associated with an increased
> risk of certain trisomies (though not so much trisomy 21,
> which is Downs Syndrome). However, more babies with either
> of those conditions do *not* have chromosomal problems.
> VSD is among the most common cardiac complications in
> otherwise normal babies. A good two thirds of babies with
> SUA have no other complications.
> Whether you should worry or not is probably a moot
> question, as I suppose it's nearly impossible *not* to worry
> to some degree! I certainly wouldn't panic, though.
>
> Best wishes,
> Ericka

I'm not sure about other trisomies, but VSD is definitely assocated with
Down syndrome; approximately 50% of kids with DS have a heart defect. But
probably only a small percentage of kids with VSDs have Down syndrome just
because the occurrence is not that high. Most common in DS is an AVSD
which is also known as an endocardial cushion defect but in my daughter's
case, she had 2 ASDs and 1 VSD, all small.

Last summer (when she was 4yo) we elected to go ahead and have them fixed
rather than wait until she started showing signs of heart failure. It's
amazing what pediatric heart surgeons can do -- she went in on a Thursday
morning and was discharged by noon on Saturday. It was almost embarassing
to come into the PICU on Friday morning and find her laughing, playing and
watching Sesame Street sitting in a nurse's lap while other kids were hooked
up to all sorts of tubes, wires and monitors. She probably could have been
discharged directly from the PICU. Within a week, we were at the pool (they
used skin glue to close the main incision and a few stiches to close where
the chest drainage tube was removed). If anyone *ever* needs a
recommendation for a ped heart surgeon, I'd definitely recommend Dr Jaggers
at Duke University Med Ctr!

From what I understand, too, fixing just a VSD is often easier and can be
done without a chest incision by threading the tiny instruments up through
the artery in the groin (like a heart catheterization) to close the holes
up. (ASDs can't be reached that way).

Depending on your location, you might want to have an amnio just to be
prepared by choosing a hospital with a critical care nursery with
specialists on hand in case of complications.

Leigh in raLeigh

[Ericka Kammerer]

Leigh Menconi wrote:

> I'm not sure about other trisomies, but VSD is definitely assocated with
> Down syndrome; approximately 50% of kids with DS have a heart defect. But
> probably only a small percentage of kids with VSDs have Down syndrome just
> because the occurrence is not that high.

Sorry--I should have been more clear. VSD is associated
with DS, just as you say. The *combination* of SUA and VSD is
not so much associated with DS, though it is associated with
other trisomies. However, the occurrence of those other
trisomies is even lower that of DS, and the majority of babies
with SUA and VSD are fine chromosomally, if that makes sense ;-)

Best wishes,
Ericka

[Mary W.]

Leigh Menconi wrote:

> I'm not sure about other trisomies, but VSD is definitely assocated with
> Down syndrome; approximately 50% of kids with DS have a heart defect. But
> probably only a small percentage of kids with VSDs have Down syndrome just
> because the occurrence is not that high. Most common in DS is an AVSD
> which is also known as an endocardial cushion defect but in my daughter's
> case, she had 2 ASDs and 1 VSD, all small.
>
> Last summer (when she was 4yo) we elected to go ahead and have them fixed
> rather than wait until she started showing signs of heart failure. It's
> amazing what pediatric heart surgeons can do -- she went in on a Thursday
> morning and was discharged by noon on Saturday. It was almost embarassing
> to come into the PICU on Friday morning and find her laughing, playing and
> watching Sesame Street sitting in a nurse's lap while other kids were hooked
> up to all sorts of tubes, wires and monitors. She probably could have been
> discharged directly from the PICU. Within a week, we were at the pool (they
> used skin glue to close the main incision and a few stiches to close where
> the chest drainage tube was removed). If anyone *ever* needs a
> recommendation for a ped heart surgeon, I'd definitely recommend Dr Jaggers
> at Duke University Med Ctr!

To the original poster, definately seek out a pediatric cardiologist, and if
needed a pediatric cardiovascular surgeon. Even if it means travelling, they
know how to fix these things and are used to doing it on little kids and
babies. I would likely seek out a children's hospital too - anestheseologists
and perfusionist used to working on kids.

> From what I understand, too, fixing just a VSD is often easier and can be
> done without a chest incision by threading the tiny instruments up through
> the artery in the groin (like a heart catheterization) to close the holes
> up. (ASDs can't be reached that way).

Other way around, I believe. An ASD (atrial septal defect) can be reached
by catheters. I think some VSDs can be fixed with catheters, but VSD repair
is usually open heart.

Additionally, muscular VSDs are more likely to close on thier own than
membranous VSDs. But the OP really will need to talk to a pediatric
cardiologist (or two) about the likelihood of them closing. And it seems
as though early repair of these defects is becoming more standard of
care. Leigh is right, its amazing how quickly kids bounce back
from these types of repair surgeries.

Mary