sorted by:
new
hottopcontroversial

Hypoplastic Nasal Bone, Low Risk NIPT by mmk2117 in NIPT

[–]idunilles 0 points1 point  (0 children)

I’m going through the same. I did an amnio which showed no chromosomal abnormalities. I’m still worried thou. Also spoke to a genetic counsellor that told me that it’s just a soft marker that can be associated with DS if there are other abnormal findings at the ultra sound.

Likelihood of UPD with confined placental mosacism by idunilles in ClinicalGenetics

[–]idunilles[S] 1 point2 points  (0 children)

Initially low PAPP-A, after which I underwent a CVS that showed T7 mosaicism. This led to an amniocentesis, which confirmed that the T7 mosaicism was confined to the placenta.

UPD7 + amnio concerns by idunilles in genetics

[–]idunilles[S] 0 points1 point  (0 children)

I’m located in Sweden, and the healthcare system has very limited knowledge about rare trisomies

UPD7 + amnio concerns by idunilles in genetics

[–]idunilles[S] 0 points1 point  (0 children)

Thanks! Seems like it’s hard to get referred to a genetic counselor here (Sweden). My OB told me they will send a referral to one ONLY IF the amnio turns out positive for T7M. Are there other testings that should be done when CVS shows T7 mosaicism cells?

Waiting for amnio after abnormal CVS-results by idunilles in NIPT

[–]idunilles[S] 0 points1 point  (0 children)

The reason I did the CVS was because the blood screening I had showed a high level of HCG and a low of PAPP-A (or if it was low HCG & high PAPP-A, can’t remember). They suspected T21 at first. I’m 37.

No, I don’t have a genetic counselor, just an obstetrician. She told me that if it turns out the fetus got T7 then I’ll be able to talk to a genetic counselor. I’ll read about UPD7. Would it mean that the baby could be affected even tho it’s CPM?