short long bones + renal pelvic dilation

[leftygirl]

I'm 30 years old and 21 weeks along with my first pregnancy (aside from 2 early miscarriages), and just when we thought we were in the "all clear", my doctor stops our ulatrasound, and tells my husband to put the camera down and have a seat.  I heard him say the words short femur, short humerus, and kidney dilation, but when he said "3 markers for Downs Syndrome"... I just went numb.  He measured the femur and humerus below the 2nd and 5th percentile, but I'm 5'9" and my husband is 5'10" (however both our maternal sides are very short).  He said if he just saw the kidneys, he wouldn't be as concerned, being that this can be common, especially in boys.  He referred me to a specialist for a level II scan.

At the level II scan today, the measurements of the long bones didn't change and we still saw the kidney issue.  On the positive side (maybe), none of my measurements came back close to 21 weeks (symmetric baby)... all of it about a week and a half to almost 3 weeks behind.  The head was in the 20th percentile, the highest percentile of any measurement.  I'm sure of my LMP dates as this was a planned pregnancy.  The nuchal fold was about 3 mm... good from what I read, and the heart, bowels, stomach, brain, sandal gap, nasal bone, etc. all looked good.  At first I was elated.  A mostly healthy - but small - baby!  But with 3 markers... I was given a chance of downs of 1 in 10, much higher than the average 45 year old woman.  That means 90% not Downs Syndrome, but what else could it be?  

Both my regular OB and this specialist did not suspect skeletal displaysia or IntraUterine Growth Restriction (IUGR).  I feel like they're both focused on Downs, and as for any other possibility, they admittedly say they just don't know.  

I didn't think I'd do this, but I'm considering getting an Amnio for 2 reasons: 1) to prepare if it is Downs and 2) to keep the doctors focused on things they may be able to help in utero.  Maybe they can even detect something else from an amnio?

Anyone have a similar experience!?  Any encouragement would really help!!!

[SimplyStar]

I have a 38 year old DS son, he is my greatest joy.  All the trials and tribulations of raising a child have been nothing compared to the love we have for him.  If your baby is a DS, I know you will think he/she is the most beautiful baby in the world.  Love is what matters with children, I know this to be very true, because I just lost my firstborn daughter to cancer,  even at 51  the umbilical cord  had never been cut, she was a part of me. He/she will be more alike  any other person, than different.  Trust me, Marty

[leftygirl]

So sorry to hear about your daughter's battle with cancer.  And I agree with you regarding the preciousness of your son!  You are very blessed to have had him for 38 years.  How is he?  Does he have significant health issues?  What would be your advice to someone preparing for a child with Downs, as far as how they can proactively help their child?

It's been over 4 weeks since my last appointment (when I previously wrote), and I just went in yesterday at 25 weeks.  We were hoping there wouldn't be any additional issues come up, and interested to see how the kidnneys were doing.  Unfortunately, we didn't get our wish.  The baby is still measuring small, and the head and abdomen have fallen in their percentiles for this stage of growth.  The head is at 8%, the abdomen about 5%, and the long bones less than 2%.  Also, we have low fluid (oligohydramnios) and my placenta is enlarged.  The kidneys look fine now, but the dr. says that we can't ignore that marker having previously seen it.  The dr. is calling this IUGR (intrauterine growth restriction) and said that these symptoms can be caused by chromosome abnormalities.  So, a month ago, I had 3 markers for chromosome abnormality (like Downs), now I have 5.

Since our treatment and delivery options can vary depending on what is wrong, we opted to do an amnio this time.  I'm also on bedrest.  

It's going seem like an eternity before we get those results back.

[SimplyStar]

thank you for your caring post, Chris has never been treated any different than my other 4 children, he went to school from age 2  till he was 21, works daily in a facility we have here  that does in house work and also contracts outside in the community. He is very independant, His health has been pretty good, hearing loss, had a bowel problem that required surgery, has the normal colds and such but I would not say anything different than other kids, A very wise teacher told me when Chris was about 4  to never allow any behavior that we would not want as an adult.  I did exercize his arms and legs at birth, miost DS babies have some problems with the heart, he had a murmer, this disappeared  by the time he was 5,  a large portion of DS have  a blockage in the large intestine, Cromes, this causes  large stools and other problems, I watched his BM habits very carefully, after his surgery  there was no more problems, they do need good dental care, teach from the beginning about brushing, activities such as sports is very good, do not let the DS child sit on the floor with legs crossed in front, this can cause hip displacement, I have let him be as independent as possible in all things, I give him choices and let him have his say in things, Chris is full of Love for all things and people.

[leftygirl]

Our FISH results came back yesterday and we can rule out Patau's syndrome, Edward's syndrome, and Down's syndrome with 97% accuracy.  

We still have issues with a small baby and low fluid, but I'm so happy to know that some fatal chromosonal abnormalities can most likely be ruled out.  

Anyway, I wanted to follow up with this because I had never read of someone having so many markers with a negative FISH result.  

[luv_2_sew_2]

I am happy that the FISH results received came back positive for you and your baby.  I'm sorry you've had to worry so, but it is renewing to have some answers.

I'm confident things will work out for your family.  Remember to take a day at a time, and don't forget to BREATHE!

[leftygirl]

I must be honest, I am happy about the result, but almost feel guilty for being so.  This experience has given me a new compassion for kids with Down's.  They are not less perfect... hey I'm not perfect and the Lord loved me anyway!

I know we have a ways to go and we're not out of the woods yet, but I'm grateful for this trial.  NO ONE will hear me complaining about how fat I'm going to get (I hope he grows and I look like a whale), or how much babies cost, etc.  This has brought me closer to my husband, our families, and our church.  

And YES I'm thankful I can finally breathe!  My deepest desire is to see him born healthy and to hold him.  I don't think I'd ever put him down!

[VASusan]

You might want to post on the Pregnancy 35+ forum. There are a lot of posters there with lots of experiences. http://www.medhelp.org/forums/show/89
I hope that your baby will be born healthy and strong and I know that God will bring you through this stressful time.
~Susan

[leftygirl]

When my amnio came back clear the other day (yey!), they put me in the hospital for lack of answers.  The doctor admitted to me that he really thought we had some kind of chromosonal abnormality.  The baby has slowed in growth more and is falling off the normal scale (< 2 percentile symmetrically), my placenta is large, our fluid is low but a little above 5 AFI, and my blood pressure is rising (they haven't put me on meds yet).  

We're seeing some cord flow abnormalities (absent between the beats), so they're suspecting thrombophelia and putting me on anticoagulants like heparin and low dose asprin.  I'll be 28 weeks in a few days and they think the baby is only 1 pound and 4 ounces now.  They gave him a 90% survival rate beause they don't think the problem is with him, but with me/placenta.

Just posting this follow up in case it might help someone else.  When the doctors think they're onto something (like they thought Downs with my baby), they may not always be right.  Medicine is so very complex.  They're still scratching their heads with me and we've been onto stuff for 6 weeks!  Some symptoms aren't consistent with others, so we just keep looking.  But I'm glad the doctors are proactive and watching us closely in the hospital.

[VASusan]

I'm praying for you and your baby.  I'm glad they are watching you and the baby so closely and discovered the blood flow problem in time to treat it and are watching your BP closely. The baby's chances for survival sound very encouraging!

[leftygirl]

Just thought I'd be one of the few people who write what the outcome of their situation was.  I often read about people who had similar cases as mine and wondered what happened to them.

Well, I had a baby!  Less than 3 days after I was put in the hospital for monitoring, I quickly developed severe preeclampsia with HELLP syndrome, my urine protein was off the charts at 20+ (cause for concern is 5), and I tested positive for a thrombophelia called MTHFR (where I don't metabolize folic acid as I should).  My placenta was a factor in that it wasn't functioning properly, and it tried to compensate for that by growing more.  None of my problems were consistent with any one cause, leaving the doctors scratching their heads.  The only thing they were confident of was that the baby had to come out, and we were only 27 weeks and 5 days along.  

My precious baby boy was born severely growth restricted at 1 pound and 1 ounce.  The doctor had the foresight to give me steroid injections when I was admitted into the hospital, which could have been why the baby's lungs did so well.  He scored 8/9 on apgars and was put briefly on a ventilator at room air settings.  They later found a CPAP mask small enough for him.  Stressed babies are fighters and hang on to every calorie they get, and our boy had gained 5 ounces the first week!  At two weeks old he weighed 1 pound and 11 ounces.  He has no brain bleeds, no structural heart defects, and is slowly starting to receive breastmilk through gavage feeding and digest it on his own without suppositories.  

We witness miracles every day.  He's doing very well, much better in the NICU than he was in me.  They give him a very good prognosis if things continue as well as they have.

[VASusan]

WOW, What amazing news!  Thank you for the update
I just checked this thread yesterday to see if there was more news. I'm so happy that your baby is holding his own! .It sounds like you've been through quite an ordeal. I had pre enclampsia too, but my kidneys were not affected. My platelets were low, but I didn't develop HELLP syndrome. It's very dangerous, I've heard. How are you doing now?
I'm thanking the LORD for His mercy in protecting your life and the baby's and I will be praying for you both.
~Susan

[leftygirl]

I'm doing great!  Thanks for asking.  We were surprised at how fast everything developed with the preeclampsia... it's like I was fine one day, then the next it was severe.  They say it can be like that though, and seizures can come on easily.  

I'll admit it was rough... but when I woke up from surgery and my husband laid his laptop right in front of my face with a picture of my precious boy blown up on the screen... I've never felt such joy before.  I spent every conscious moment praising God for what he had done.  I can't explain the peace I felt that he would be ok.  Pure grace...

I got to hold my little one tonight.  When they put him on my chest (he's no bigger than a bullfrog), he actually pushed himself up to raise his head and both eyes widely looked at me!  I can't believe his strength!  The nurses were shocked!  Then he melted right down and peacefully laid there.

They've increased his feedings and decreased his oxygen settings (in a good way) over the last few days.  He's doing amazing.  

Thanks for the prayers!

O give thanks unto the LORD; for he is good: because his mercy endureth for ever. - Psalms 118:1

[VASusan]

I'm glad to hear how well he's doing and it's so amazing that he lifted his head to look at you! It must have taken all his strength. What a fighter he is. What did you name him?

[VASusan]

PS, I hope you'll post a picture of him!

[leftygirl]

We named him Daniel Jacob, Daniel after the bible story.  It seems he's been in the lion's den for awhile.  Before it was the womb, now it resembles an isolette in the NICU.  I put some stuffed lions in there with him, so there you have it - Daniel in the midst of the lions sleeping peacefully.  :-)  

I may need remedial training - how do you post pictures?  I think I did... there's a few in the photos section of my profile.

[VASusan]

What a perfect name for him! I saw the pictures and he's beautiful. May God bless little Daniel and you.