Anyone tested high risk for 22q11.2 (Digeorge syndrome)
Went for 2 harmony tests. The 1st showed inconclusive for fetal sex and sca. So, gynae made me go for second harmony test. Results came back gd for second but tested high probability for 22q11.2 (Digeorge syndrome). Now gynae asking to go for Amnio to verify. Very confused and extremely worried. Have been losing sleep and crying.
Replying to this for anyone who needs it, as I was in a similar position before! This is my experience in KKH! My situation is slightly different. During my 20 weeks scan, baby was detected with a structural variant in the heart called ARSA. ARSA itself has minimal to no health implications but can be a soft marker for chromosomal abnormalities. I've done NIPT prior to the scan which showed low probability for the trisomy. However, Digeorge was the concern as NIPT had a lower accuracy rate (75%). From my multiple conversations (with genetic counselor, gynae, friends etc). There are people who are satisfied with the NIPT results and also those who needed certainty, which is to do amniocentesis. Amniocentesis does come with a small risk of miscarriage too. In my case, I decided to go ahead with amnio. I was given 2 days MC and was advised to be on bed rest. For those who intend to do amnio, the test results would come in approx 2 weeks time. I scheduled my gynae appt exactly 2 weeks after and was shared the result of the amnio around day 12. I did request for the genetic counsellor to call me once results are out and regardless of results too. Ultimately, it depends on your belief and comfort level. I am very fortunate that the amnio result came back fine!I wish the same to all the mummies in a similar position to me. Take care of yourself!
Read moreHi! Im on the same boat, just my case I did panorama and came out monosomy X and fender is “no result”. My gynae conclude it may be Turner syndrome. I was cried like hell & she refer me to see genetic counselor for more information. My genetic counselor said those NIPT test not very accurate. It still can be false positive or maybe there is abnormality on baby chromosome. I will have Karyotype test next week with Prof Biswas. I was worried sick but I really can’t live with uncertain answer until baby born. So I will take risk with amnio & wait for the result. I wish you can update your case. If you go for amnio? Take care!
Read moreHi. I am very sorry to hear that. Would you like to go and get a 2nd opinion?
