So I'm almost 16 weeks and I got the test done that looks at 300 diseases and says what I'm a carrier for if anything. Well it showed I'm a carrier for a serious disease called achondrogenesis that causes dwarfism and respiratory problems. So my husband is going to get tested as well and if he's a carrier then the baby has 25% chance of having the disease.I know it's probably unlikely we are both carriers and even if we were it's still on 25 percent the baby with have it but I'm kind of worried. Did anyone else go through this? Did anyone end up both being carriers for something bad? I need some reassurance I guess. Thanks !!
Genetic test results
- Thread starter AnnieJ10
- Start date
Hi! Sorry you're going through this. I know how much stress and anxiety it can cause. At my 20 week anatomy scan they discovered an isolated soft marker which led to TONS of testing as this particular marker could indicate many different potential problems from serious chromosomal issues to cystic fibrosis to an infectious disease. It took nearly a month for all the results to come in and it was torture! The last results to come in were for cystic fibrosis- which is also an inherited recessive disease like the disease you're referring to. As it turned out, like you, I was a carrier and then had to wait and see if my husband was. If he was, the baby then had a 25% chance of inheriting the disease. Fortunately he isn't, so we are in the clear. Our genetic councillor said it is extremely rare for both parents to be carriers. And keep in mind, cystic fibrosis is SO much more common than achondrogenesis.
Have you had scans done? From what I've quickly read there are obvious physical indications of this very rare disease that show up early on ultrasounds. I also read that it affects approximately 1 in 40,000 births. It is so incredibly unlikely that your baby has this disease. I know it's easier said than done as news like this is always jarring, but try to focus on the statistics and odds that are incredibly positive in your favor!
Sending you lots of happy thoughts! Try to relax and keep yourself busy over the next week or two as you wait for your husbands results. 💖
Have you had scans done? From what I've quickly read there are obvious physical indications of this very rare disease that show up early on ultrasounds. I also read that it affects approximately 1 in 40,000 births. It is so incredibly unlikely that your baby has this disease. I know it's easier said than done as news like this is always jarring, but try to focus on the statistics and odds that are incredibly positive in your favor!
Sending you lots of happy thoughts! Try to relax and keep yourself busy over the next week or two as you wait for your husbands results. 💖
HappyAnjeL
Abigail's Mommy
- Joined
- Oct 12, 2011
- Messages
- 1,463
- Reaction score
- 0
With my daughter they missed that I was a carrier for Cystis fibrosis so my doctor was shocked when I told him my husband hadn't been tested to see if he was a carrier.. thankfully his results came back negative.. but waiting was torture. Wishing you the best of luck!
