CF moms.. I have questions — The Bump
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CF moms.. I have questions

So I have a drs appt this week to discuss this more. But last week we were shipped out to a perinatologist because I came back as a carrier for cf as well as my quad screen came back elevated for him possibly having down syndrome. We met with a genetic counselor and had an ultrasound where the dr said she didnt see any physical signs that he has downs. In the mean time my DH got tested to see if he is a carrier and found out yesterday that in fact he is. The perinatiologist doesnt want to do an amnio until 30 weeks. So one of my questions is will the amnio give us a for sure wether he has cf or not? I know he has a 1 in 4 chance. But also if we are both carriers how is there a 25% chance that our son will not be a carrier like how would he not get one of the genes from either of us?

Re: CF moms.. I have questions

  • Why are they doing the amnio? Nothing would change during pregnancy based on those results & the baby could be tested right after delivery. Just seems like an unnecessary risk.
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  • And yes, the amnio should give you a definitive answer, but the test is MUCH simpler & less invasive once the baby is here & wouldn't carry any risk.
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  • As PP said, the test will be definitive with amnio.  That said, it is a risk.  They can also take cord blood at birth (which is what we did) and you'll know in a week. 

    That said, ask about getting an US around 33/34 weeks.  Around that time, they can often detect CF based on coloring of the bowel.  I know it sounds strange, but CF isn't just a lung issue.  It also has digestive symptoms as well.

    It isn't a definitive way to tell, but it can help guide you in the right direction if you need to know now.

    In terms of the genes, CF is a recessive gene.  Your child has a 25% chance of getting both genes and having CF, 25% chance of having neither gene and a 50% chance of being a carrier (getting one gene from either you or your husband).

    Hope that helps.

    Baby Birthday Ticker Ticker Emergency ileostomy 11/28/10, CF dx on 12/3/10 and ileostomy takedown 1/24/11, feeding tube placed 7/1/11...still going strong! Little one lost 5w5d, 5/27/2012. CP 8/26/2012
  • Every person has two copies of each gene. Being a carrier means you have one mutated copy and one normal copy. If both you and your husband pass on the normal copy your child will not be a carrier and not have CF.

    I wouldn't take the risk of an amnio when a simple blood test at birth will tell you. Most states have it as a part of the standard newborn screen. Another giveaway would be having trouble with bowel movements after birth, but this doesn't happen will all CF kids.


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