Chromosome testing during pregnancy

gremaud07

So we just found out that we expecting number 2 after trying for four years. Our son has DiGeorge and we want to be prepared this time around for whatever God has planned for us. What kind of testing is best for not only DiGeorge but other chromosome abnormalities?

babylimas

We expected my son to have DiGeorge because of his particular heart defect. I know it could be detected with the Materniti21 blood test, but we chose to get an amnio so we could get an entire spectrum of possibilities. The blood test only tested for a certain number of chromosomal abnormalities. We discovered he had T21 through the amnio. I am glad we had it done so that we could be prepared for any possibility. 

Assembly_Reqd

Our Geneticist said that if we ever get pregnant again we can ask for a micro array to be done on any genetic material collected from the baby. Nate has  3 deletions on chromosome 1.

The thing is that many deletions/duplications probably would not result in a symptomatic child, but at least you would know about known syndromes and potential outcomes. Only one of Nate's deletions has any research done on it. He has about half of the issues the other children had. So, not very predicative....

soontobemomof6

Digeorge can be tested with a blood test now, but probably an amnio would be more accurate, so I guess you'll need to decide if you're ok with just the blood results or what more confirmation with the amnio. Then even with the amnio, there's the option for microarray which can show duplications and deletions, and then you can look even more specific than that and start going into mutations and things with individual genes (some, not all, and the technology is newer so may not be super reliable). But anyway- if your main concern is digeorge, just the blood test and possibly the amnio on top of that would be good choices for you.

gremaud07

Thanks ladies!