u/listening2therain

Balanced Translocation

Hi all,

I’m interested in learning more about this balanced translocation:

46, XY, t (11; 18) (p15. 3;p11. 2)

My husband and I have two healthy children. Third pregnancy genetic testing prompted parental genetic testing which revealed BT in my husband.

Curious for more information.

reddit.com
u/listening2therain — 7 days ago

Balanced Translocation

Hi all,

I’m interested in learning more about this balanced translocation:

46, XY, t (11; 18) (p15. 3;p11. 2)

My husband and I have two healthy children. Third pregnancy genetic testing prompted parental genetic testing which revealed BT in my husband.

Curious for more information.

reddit.com
u/listening2therain — 7 days ago
▲ 2 r/NIPT

Cystic Hygroma, low risk NIPT, MaterniT Genome testing findings

Trying to find similar stories to ours. A cystic hygroma was detected on ultrasound at 10 weeks and NIPT blood drawn same day. Results came back low risk. We were still referred to MFM — at 13 weeks hygroma was still present, and was measured for the first time: 6.6mm. We did further genome testing with a blood sample from me. As well as Natera Vistara. The results from the MaterniT Genome test came back today….a deletion was flagged on the end of chromosome 18 and a duplication flagged at the end of chromosome 11. The genetic counselor says one parent could have a translocated chromosome, and not know it. We have two healthy children (8 and 5). My husband and I both did genetic testing today to see if one of us passed down a translocated chromosome. Results should be in 3-5 days. The Vistara results have not come back yet, but we were told they think we found the answer and there will probably be nothing on the Vistara. I’m going down every lane of possibilities trying to prepare myself. Has anyone been in a similar position with MaterniT Genome blood test results and a cystic hygroma? What happened?

reddit.com
u/listening2therain — 20 days ago