thecainfoundation

My wife is a second generation BOR carrier and our first 2 kids both carry and on the second child we went to a genetic doc and they did an early ultrasound to test to check for amniotic fluid but we just found out about being pregnant again today and can't remember how soon we got to do the ultrasound. Dose anybody know?

hi James,

I know there is a first trimester screening test, which checks for chromosomal disorders. This test gets done between 11 and 13 weeks gestation. This test includes a blood test and an ultrasound.
Is this the test you are referring to?

the second trimester ultrasound gets done between 18 and 21 weeks gestation. This test looks at the size and position of the fetus, placenta, and amniotic fluid.

this was just really quick I got to go,

but hope this is what you were looking for.

good luck and congratulations on your exciting baby news!!

take care Sandra

Hi Sandra,

Is this first screening your talking about just a simple amnioscentisis test? Or is this a SPECIAL test to check for the chromosome abnormailities? Can BOR show up in this testing through blood? I am very interested in this?

As you know I have the 2 boys and with my 2nd I simply had my normanl ultrasounds plus another one at 36 weeks. I didnt have any other testing.

I look forward to your reply.
Fiona

Hi Fiona,

This test is not an amniocentesis test. All they do is take some blood and an ultrasound and it does look for chromosomal disorders.

I am not sure if they can look for the BOR gene during this test.
I did have this test done during my pregnancy with Max and the results came back that I had a very low change of carrying a child with a chromosomal disorder. But then Max was born with BOR.

I don't know if they would have been able to detect BOR during this test if I had asked them to specifically to look for this.
BOR isn't in mine or Mick family history, so there wasn't a need for us to ask to look for this specifically. .

hope this answers your question.

Take care, Sandra

My father and I both have BOR Syndrome. I was only diagnosed a couple of years ago. I knew I had a fifty/fifty chance of passing it on to my children, but my husband and I decided to take the risk.

We thought my first baby would BOR because her kidney's were enlarged and dilated during all her post- 20 week sonograms. We went to a perinatologist every three weeks to monitor it. When she was born, they scanned her kidneys and they were normal. She had no signs or BOR.

My son, born just three months ago, is another story. We did several level II sonograms with the perinatologist because he appeared to have a heart problem (he didn't). We asked her to check the kidney's, look for cysts in the neck, and anything unusual about the ears. She found nothing so we assumed he was fine. But, when he was born he had ear pits on both ears, a big brachial cleft cyst on the left side of his neck and a hearing loss (he passed his newborn screen but we had him retested a month later because of the symptoms and family history).

I'm not a medical professional, but I don't think you can determine by ultrasound if a child will have BOR. It's probably a good thing to get a level II sonogram after 20 weeks (my kids never had problems until the 20 week sono) to check the kidney function and anatomy.