Is it possible my baby has Down Syndrome?

[Anonymous]

Even if the NIPT showed us at low risk and she has no known heart defects.

She’s 4 weeks old and her features are so different than my other two kids. When I first saw her she was very swollen do it was hard to make out features but she has a flatter face, button nose and more almond shaped eyes. Both DH & I and our older kids have round eyes and more prominent noses. She also seems to have lower muscle tone but nothing too concerning.

I had her at a birthing center and the midwife did not seem concerned. We’ve had two checkups and she still doesn’t seemed concerned but no other genetic testing other than the NIPT at 15 weeks.

She is nursing ok. I have just convinced myself she has a mild form of Down Syndrome if that even makes sense. I’ll love her regardless but something just feels off. I feel like I’m being dismissed as having a hormonal mommy brain, which maybe that’s true but I never worried like this with my first two.

[Anonymous]

What does your pediatrician say?

[Anonymous]

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.

[Anonymous]

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.

[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.

Yikes.

[Anonymous]

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.

She feels very floppy. My older two kids had some resistance and strength at times. They’d lift their heads up for short periods of time. They’d push and kick with what felt like more strength.

Even when I was pregnant with her her kicks felt less powerful.

[Anonymous]

Anonymous wrote:

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.

Yikes.

Why yikes? The midwife is not some random lady we found on the internet she works for our hospital. My birth was considered low risk so there was no need for further medical intervention. This is pretty common in many states. OBGYNs are used with higher risk births.

[Anonymous]

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.

[Anonymous]

Anonymous wrote:

Anonymous wrote:

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.

Yikes.

Why yikes? The midwife is not some random lady we found on the internet she works for our hospital. My birth was considered low risk so there was no need for further medical intervention. This is pretty common in many states. OBGYNs are used with higher risk births.

Because you have some concerns about your child and you need someone more specialized to assess for Down syndrome since you have concerns about your child.

I’m sure your midwife is great in many ways but she’s not a pediatrician.

[Anonymous]

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?

[Anonymous]

Anonymous wrote:

Anonymous wrote:

Anonymous wrote:

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.

Yikes.

Why yikes? The midwife is not some random lady we found on the internet she works for our hospital. My birth was considered low risk so there was no need for further medical intervention. This is pretty common in many states. OBGYNs are used with higher risk births.

Because you have some concerns about your child and you need someone more specialized to assess for Down syndrome since you have concerns about your child.

I’m sure your midwife is great in many ways but she’s not a pediatrician.

We have an appointment scheduled and I will bring up concerns.

I was wondering if my concerns were even rational. DH thinks it’s impossible and the midwife finds it very unlikely so I just don’t want to make a fool of myself at her first appointment.

[Anonymous]

Anonymous wrote:

Anonymous wrote:

Anonymous wrote:

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.

Yikes.

Why yikes? The midwife is not some random lady we found on the internet she works for our hospital. My birth was considered low risk so there was no need for further medical intervention. This is pretty common in many states. OBGYNs are used with higher risk births.

Because you have some concerns about your child and you need someone more specialized to assess for Down syndrome since you have concerns about your child.

I’m sure your midwife is great in many ways but she’s not a pediatrician.

+1

[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?

Just take your baby to the pediatrician, OP.

[Anonymous]

I would mention to the midwife that you may have post partum depression. This kind of thinking is a symptom.

[Anonymous]

Anonymous wrote:

Anonymous wrote:

Anonymous wrote:

Anonymous wrote:

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.

Yikes.

Why yikes? The midwife is not some random lady we found on the internet she works for our hospital. My birth was considered low risk so there was no need for further medical intervention. This is pretty common in many states. OBGYNs are used with higher risk births.

Because you have some concerns about your child and you need someone more specialized to assess for Down syndrome since you have concerns about your child.

I’m sure your midwife is great in many ways but she’s not a pediatrician.

We have an appointment scheduled and I will bring up concerns.

I was wondering if my concerns were even rational. DH thinks it’s impossible and the midwife finds it very unlikely so I just don’t want to make a fool of myself at her first appointment.

Don’t even worry about that. Your job is to advocate and ask questions for your babies health. First, it’s not foolish second, who cares if they think it’s foolish?