Aboveallislove
Super Moderator
Wondering for those who learned their child has or may have CF while still pregnant could explain how it came about. Who tested you? Who alerted you? What was the process from there?
Thanks!
Thanks!
How'd you get prenatal diagnosis?
- Thread starter Aboveallislove
- Start date
I went through this. Mine started because I had a routine 20 week ultrasound which showed an echogenic bowel and an echogenic foci in the left ventricle of her heart. This was the starting point. From there the OB/GYN had us do bloodwork for lots of stuff(we were clueless about the CF thing). I was tested for the CF carrier, eventually my husband too. After MANY sleepless nights I had an amnio done. The were able to grow out the cells to test for my husband and mine CF mutations and by the 23rd week of pregnancy I found out from a phone call fro the nurse at the OB/GYN office my daughter had CF.
Our scenario, took awhile because they knew something was wrong but not sure what. My husband and I needed time to process all the info. That's the compressed story I had lots of doctor's appointments and other tests to rule other stuff out.
I should also say the doctor who did the amnio was very well respected, at the top of her game. Published papers on this type of thing. We were in the big city at that time and we used the best.
Our scenario, took awhile because they knew something was wrong but not sure what. My husband and I needed time to process all the info. That's the compressed story I had lots of doctor's appointments and other tests to rule other stuff out.
I should also say the doctor who did the amnio was very well respected, at the top of her game. Published papers on this type of thing. We were in the big city at that time and we used the best.
Aboveallislove
Super Moderator
Rebjane,
thanks so much. So helpful. And I am SO sorry for how horrible that must have been. I've often said that in retrospect I'm glad I didn't know while I was pregnant because I could fully enjoy that stage without worrying. I was so sad that the early days of joy were ruined with the newborn screen positive, but know that was for the best because we could start on treatment right away. Knowing what the newborn screen positive felt like, I can only imagine that agony you and your husband felt while not knowing, etc.
If I could pick your brain some more (I'm trying to put together a summary of info for cysticfibrosis.com for newly diagnosed/potential CF, so it would be so helpful for others). After the amnio confirmed, did they put you in contact with the CF clinic? Did you do anything special like changing OB or hospital to make sure they had the doctors there in case of MI? Did they continue screening? Knowing what you know now, is there anything practical you'd recommend to those who get the diagnosis pre-natal?
Thanks!
thanks so much. So helpful. And I am SO sorry for how horrible that must have been. I've often said that in retrospect I'm glad I didn't know while I was pregnant because I could fully enjoy that stage without worrying. I was so sad that the early days of joy were ruined with the newborn screen positive, but know that was for the best because we could start on treatment right away. Knowing what the newborn screen positive felt like, I can only imagine that agony you and your husband felt while not knowing, etc.
If I could pick your brain some more (I'm trying to put together a summary of info for cysticfibrosis.com for newly diagnosed/potential CF, so it would be so helpful for others). After the amnio confirmed, did they put you in contact with the CF clinic? Did you do anything special like changing OB or hospital to make sure they had the doctors there in case of MI? Did they continue screening? Knowing what you know now, is there anything practical you'd recommend to those who get the diagnosis pre-natal?
Thanks!
Our state didn't begin newborn screening until ds was almost 3 years old. About 12 hours after ds was born, after they'd thought he'd stooled in the womb, he began vomiting meconium. The neonatologist mentioned in passing he thought it was a bowel obstruction caused by cf -- which we thought was weird because wasn't cf a lung disease --- and unbeknownst to us ordered a basic cf panel. Meanwhile ds was lifeflighted to the City because the one and only pediatric surgeon in our area was on vacation. Next day ds underwent surgery and the surgeon said in passing "99% of the time this is caused by CF".
The neonatologist contacted a CF doctor and had him visit with us and took over ds care. Being we were in the NICU he had the RTs teach us about CPT and nebs, the nurses showed us how to administer enzymes and oral meds... By the time we went home we had contacted our local cf clinic and made an appointment for their CF clinic the next month. We also made an appointment to return to the City for a follow-up appointment with the CF doctor there. Local CF clinic was completely different. Told us we didn't need to do CPT or take certain meds unless there were symptoms. Meanwhile ds had come home from the NICU with a cough, but the local CF doctor told me "they cough, it's what they do". CF doctor in the City saw ds a couple weeks later and yelled at us because ds had bronchitis. We continued going to both CF clinics every 3 months, but became increasingly unhappy with the local CF clinic and only go to the pediatrician locally whose head of the CF program for well child visits.
Oh and while in the NICU at 2 1/2 weeks of age a sweat test was ordered and it came back a normal 32. However, the original blood test results had come back after 5 days and showed CF.
The neonatologist contacted a CF doctor and had him visit with us and took over ds care. Being we were in the NICU he had the RTs teach us about CPT and nebs, the nurses showed us how to administer enzymes and oral meds... By the time we went home we had contacted our local cf clinic and made an appointment for their CF clinic the next month. We also made an appointment to return to the City for a follow-up appointment with the CF doctor there. Local CF clinic was completely different. Told us we didn't need to do CPT or take certain meds unless there were symptoms. Meanwhile ds had come home from the NICU with a cough, but the local CF doctor told me "they cough, it's what they do". CF doctor in the City saw ds a couple weeks later and yelled at us because ds had bronchitis. We continued going to both CF clinics every 3 months, but became increasingly unhappy with the local CF clinic and only go to the pediatrician locally whose head of the CF program for well child visits.
Oh and while in the NICU at 2 1/2 weeks of age a sweat test was ordered and it came back a normal 32. However, the original blood test results had come back after 5 days and showed CF.
Above,
I tried PM you but my message did not go though
. Anyway, a genetic counselor is helpful. We met with a CF doctor while I was still pregnant for a one hour consult. This was covered by insurance..It was for us to ask questions and learn what Cf was.
I was followed with ultrasounds towards the end of my pregnancy to make sure there was not an obvious bowel obstruction. I also met with our current CF doctor at the clinic prior to my daughter's birth. He notified the L&D staff that my daughter was going to have CF and may have a meconium ileus. He also left orders for what to do for a meconium ileus when my daughter was born.
I tried PM you but my message did not go though
. Anyway, a genetic counselor is helpful. We met with a CF doctor while I was still pregnant for a one hour consult. This was covered by insurance..It was for us to ask questions and learn what Cf was.I was followed with ultrasounds towards the end of my pregnancy to make sure there was not an obvious bowel obstruction. I also met with our current CF doctor at the clinic prior to my daughter's birth. He notified the L&D staff that my daughter was going to have CF and may have a meconium ileus. He also left orders for what to do for a meconium ileus when my daughter was born.
Aboveallislove
Super Moderator
Thank you both so much for the added detail. Definitely helps for a write-up to help others. And oh, my heart aches thinking of what you guys went through. Even though now this is all "our normal," the early days of unknown and cystic fibrosis can haunt and you both had it so hard! hugs
Looking back... As scary and overwhelming as it was at the time... We were where we were supposed to be. How fortuitous it was the local pediatric surgeon was out of town. DS' obstruction and subsequent surgery ended up being very complicated. A 2 hour surgery turned into 6. Then our hospital stay was lengthened because he developed sepsis. Not so sure the outcome would've been the same should we have remained at our home hospital.
AllthebestforLiam
New member
When I was 22 weeks pregnant I was told Liam had echogenic bowel. My brother-in-law had CF, so my husband and I decided to get a blood test done. When both of our results came back as carriers, we sort of knew that Liam would have CF. Of course we still hoped we we're wrong, right until he was born and had a genetic test straight after he was born.
We had an ultrasound every two weeks until the end of my pregnancy, to make sure there was no sign of MI, which there wasn't.
We met our CF doctors when I was still pregnant, and they told us what to expect, and what we would have to do to keep him healthy for as long as possible...
We had an ultrasound every two weeks until the end of my pregnancy, to make sure there was no sign of MI, which there wasn't.
We met our CF doctors when I was still pregnant, and they told us what to expect, and what we would have to do to keep him healthy for as long as possible...
gatorgirl2783
New member
At 16 weeks I had an ultrasound that showed echogenic bowels. From there we underwent the quad screening for me and then dad. Once we both came back as carriers I had an amniocentesis done to find out if my baby would be a carrier or would be affected. The amniocentesis showed that she did in fact have CF. Finding out early gave us the chance to educate ourselves and prepare to start treatment without any delays.
Aboveallislove
Super Moderator
Thank you all for sharing what has to be painful memories. I hope together the information will help others.
M
maureenferro
Guest
I was the second to be pre diagnosed on Long Island. They did a blood test to show I was a carrier. Sent my husband for blood work, and he obviously was a carrier also, The testing must have been new, since I had a 2year old at the time. From there we did an amnio, found out she had CF. sent to a geneticist, who told me to terminate, that with her two deltaF580 she wouldn't have a quality life, and would not live long. The whole process was stressful, but gave us the chance to educate ourselves, and begin treatments sooner. She is now a typical 12 year old middle school student.