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.

Anonymous

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Hi! 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!

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Hi. I am very sorry to hear that. Would you like to go and get a 2nd opinion?

Anonymous

5y ago

The gynae told us that only an Amnio would be able to tell us if baby has and chromosonal abnormaly or not. He kept saying it is a screening test. So just because you got high probability does not mean a definite yes.

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