Is it possible my baby has Down Syndrome?

[Anonymous]

This is a question for the pediatrician you haven’t bothered to see yet.

[Anonymous]

Anonymous wrote:

Anonymous wrote:1. Babies are examined by a doctor in the hospital before release.
2. You have to bring the baby to the pediatrician at 1 week old.
3. Babies need vaccines, the first at birth and then starting the schedule at 2 months.
Op is definitely a troll.

OP delivered in a birthing center, not a hospital so you’re premise is wrong.

I know a woman who decided to deliver at home last year after getting offended that her OB wanted her to do prentatal testing. Had baby at home, then a couple of days later had to rush to the ER because baby was Turing blue and and baby was sent via helicopter to major medical center an hour north because she had a MAJOR heart defect. Totally would have been caught in utero or at the very least in the hospital as a newborn if the mom has seen real doctors instead of doing the hippy homebirth.

OP may be a troll but maybe someone will read this and decide to seek actual medical care.

You can have a home birth without forgoing prenatal care. And the post birth exam the midwife did for my second kid was identical to the post birth exam my first kid got in the hospital.

Whatever happened with your friend's child, it wasn't because of a home birth.

[Anonymous]

Anonymous wrote:

Anonymous wrote:Yes it’s possible. NIPT is not 100% and it is possible to get diagnosed at birth.

I would get to a pediatrician ASAP as they will be able to assess and order genetic testing to confirm.

Can I just request a blood test? She had a heal prick at birth that checked for PKU, cystic fibrosis and a few others but not DS. Our other children had more extensive labs drawn at their 6 week peditrician appointment but not sure if they test for Down syndrome specifically.

Would I need to request that directly?

That blood test/here prick test should have been done w/n 24 hrs Op!!

I CAnt believe your midwife didn't tell you to do that sooner (or at least get your baby to an actual pediatrician).

You can't wait on that. I'm betting there might be something on that blood panel your baby is positive for (metabolism deficiency is my guess).

- Signed Mom whose newborn came back positive for one of the metabolic tests/heel prick and so grateful it was discovered right away.

[Anonymous]

Anonymous wrote:

Anonymous wrote:

Anonymous wrote:Yes it’s possible. NIPT is not 100% and it is possible to get diagnosed at birth.

I would get to a pediatrician ASAP as they will be able to assess and order genetic testing to confirm.

Can I just request a blood test? She had a heal prick at birth that checked for PKU, cystic fibrosis and a few others but not DS. Our other children had more extensive labs drawn at their 6 week peditrician appointment but not sure if they test for Down syndrome specifically.

Would I need to request that directly?

That blood test/here prick test should have been done w/n 24 hrs Op!!

I CAnt believe your midwife didn't tell you to do that sooner (or at least get your baby to an actual pediatrician).

You can't wait on that. I'm betting there might be something on that blood panel your baby is positive for (metabolism deficiency is my guess).

- Signed Mom whose newborn came back positive for one of the metabolic tests/heel prick and so grateful it was discovered right away.

She had the heel prick. I think you misread the post.

[Anonymous]

I think DS babies are born really small.

[Anonymous]

OP, newborns look really weird. Your baby is probably completely fine.

[Anonymous]

Op you should absolutely, unequivocally go to the pediatrician right away. Your midwife is NOT trained in pediatric care. While I think there are many midwife’s wonderful at supporting the birthing process, I seriously question any that made you think she is an appropriate replacement for a pediatrician in early days. In fact, I would report someone that encouraged me to skip my pediatrician and instead see them. There is no pediatric training in midwifery training (which already varies in how good it is).

Go to your pediatrician!!!

[Anonymous]

Anonymous wrote:My friends baby was floppy and it was diagnosed as phelan-McDermid syndrome.

My kid has Phelan McDermid!! You don’t hear about it much.

But I will say, if this is not a troll. You need to go see a doctor. The reality is that there are “syndromic” features that can signal that testing for a genetic syndrome is in order. And there are many syndromes that end up with a child with syndromic features — not just Down syndrome. Odds are your child is FINE. But you should point out your concerns.

And getting tested for PPD/PPA may also be a good idea.

[Anonymous]

Anonymous wrote:

Anonymous wrote:

Anonymous wrote:1. Babies are examined by a doctor in the hospital before release.
2. You have to bring the baby to the pediatrician at 1 week old.
3. Babies need vaccines, the first at birth and then starting the schedule at 2 months.
Op is definitely a troll.

OP delivered in a birthing center, not a hospital so you’re premise is wrong.

I know a woman who decided to deliver at home last year after getting offended that her OB wanted her to do prentatal testing. Had baby at home, then a couple of days later had to rush to the ER because baby was Turing blue and and baby was sent via helicopter to major medical center an hour north because she had a MAJOR heart defect. Totally would have been caught in utero or at the very least in the hospital as a newborn if the mom has seen real doctors instead of doing the hippy homebirth.

OP may be a troll but maybe someone will read this and decide to seek actual medical care.

You can have a home birth without forgoing prenatal care. And the post birth exam the midwife did for my second kid was identical to the post birth exam my first kid got in the hospital.

Whatever happened with your friend's child, it wasn't because of a home birth.

I wouldn’t call her a friend and while of course her choices to forego normal medical care didn’t cause the problems, they would have been diagnosed and addressed sooner with a better outcome. That baby absolutely should have been born in a hospital and they’re lucky she didn’t die in her first couple of days at home.

[Anonymous]

Anonymous wrote:

Anonymous wrote:

Anonymous wrote:How can you tell that a 4 wk old has low muscle tone? No snark, being serious. I have several children too, but that's not something I would have noticed/known at that age. They can't do anything yet.

You absolutely can tell by the way the baby moves, or doesn't, and how the baby lies. In some cases it is quite obvious, which is why they refer to it as floppy baby syndrome. Low tone babies and kids feel heavier than same-weight babies of normal tone too. Think of how much heavier your child feels when you carry them in a deep sleep versus when awake.

Sorry this is incorrect.

I have a child with hypotonia. You can tell.

[Anonymous]

Anonymous wrote:

Anonymous wrote:What does your pediatrician say?

We haven’t had a visit with our Peditrician yet. We have one scheduled in a few weeks. Our midwife is highly trained and experienced and has provided our postnatal care so far.

Maybe go to an actual medical doctor???? What the hell man

[Anonymous]

Baby needs to be seen, but postpartum OCD is a possibility here. Just a heads up.

[Anonymous]

Anonymous wrote:

Anonymous wrote:My friends baby was floppy and it was diagnosed as phelan-McDermid syndrome.

My kid has Phelan McDermid!! You don’t hear about it much.

But I will say, if this is not a troll. You need to go see a doctor. The reality is that there are “syndromic” features that can signal that testing for a genetic syndrome is in order. And there are many syndromes that end up with a child with syndromic features — not just Down syndrome. Odds are your child is FINE. But you should point out your concerns.

And getting tested for PPD/PPA may also be a good idea.

Exactly. Lots of genetic abnormalities with characteristic facial changes. Important to get diagnosed in case there are other health issues to watch out for, which could be anything from metabolic to cardiac, etc. Just see a doctor.

[Anonymous]

Anonymous wrote:

Anonymous wrote:1. Babies are examined by a doctor in the hospital before release.
2. You have to bring the baby to the pediatrician at 1 week old.
3. Babies need vaccines, the first at birth and then starting the schedule at 2 months.
Op is definitely a troll.

OP delivered in a birthing center, not a hospital so you’re premise is wrong.

I know a woman who decided to deliver at home last year after getting offended that her OB wanted her to do prentatal testing. Had baby at home, then a couple of days later had to rush to the ER because baby was Turing blue and and baby was sent via helicopter to major medical center an hour north because she had a MAJOR heart defect. Totally would have been caught in utero or at the very least in the hospital as a newborn if the mom has seen real doctors instead of doing the hippy homebirth.

OP may be a troll but maybe someone will read this and decide to seek actual medical care.

What the hell? I delivered in a birth center with a CNM, and I had prenatal care, ultrasounds, bloodwork, the whole bit (minus genetic testing, which we declined because it wouldn't have changed our decision to continue the pregnancy). You sound ignorant.

[Anonymous]

Anonymous wrote:

Anonymous wrote:What does your pediatrician say?

We haven’t had a visit with our Peditrician yet. We have one scheduled in a few weeks. Our midwife is highly trained and experienced and has provided our postnatal care so far.

What?! Your baby is 4 weeks and hasn't seen the ped?