xp: Heart Valve & associated Downs risk?

chloebeth930

I hope that this is ok posting this question here.  If it is not and is offensive, please let me know and I will try and delete it as soon as possible.

My MIL just called me really upset.  My SIL is 20 weeks pregnant and had her u/s last week.  The doctor called her today and mentioned something along the lines of the baby only having 2 or 3 valves (I don't know exactly since I heard it second hand from my MIL) and that they need her to come in and get some blood work ran because that is a risk factor for Downs.

My SIL is really upset and confused and so is my MIL.  I think they are just struggling because they don't know what any of this means (my SIL's doctor did not explain it very well to her and she was too upset to ask). 

I would like to help them but can't seem to find any information on this.  Does anyone have any familiarity with this?

Justinlove

I have a feeling what was lost in translation is that the baby has a 2-vessel umbilical cord instead of a 3-vessel.  A 2-vessel umbilical cord is often (but not always) associated with chromosomal disorders (such as Downs) and other birth defects.

My daughter had a 2-vessel umbilical cord and does have a chromosomal disorder (not Downs)--but it was not detected by the bloodwork since her chromo microdeletion and microduplication are so small and do not involve the entire chromosome.

DON'T go googling this or sharing it with your SIL/MIL.  It will only cause them to worry more.  Hopefully your SIL's baby will be one of the babies whose 2 vessel cord means nothing.

goldenleaves

Ditto to the above poster! A 2 vessel cord can mean nothing.

Our little one has down syndrome and a heart defect called ventricular septal defect, or VSD.

chloebeth930

Thank you soo much!  My MIL did mention umbilical cord, but didn't know what that meant in reference to the number. 

LandoWedding

Heart issues and umbilical cord issues are more common in kids with DS, not sure how common in the rest of the population?  I'd have your SIL call the doctor and ask for another explanation, well within her rights to do so and then you guys can move forward.  My daughter did not have the cord issue, but did have a heart defect.  (I say "did" because it was fixed last month!  Now she is just a typical baby with DS!)

Hope that helps.

louMT

And baby's are sometimes born without heart valves. There should be 4 valves in the heart. Sometimes there are only 3 but you would think the doc would explain himself. They can be fixed in most cases. My daughter was born with a heart defect affecting 2 of her valves. Once you find out - if they have any questions you can tell them to ask here. It's a great resource..