Prenatal diagnosis

Question

Hello,

We have a 5 year-old daughter who was diagnosed with cystic fibrosis at the age of 4 months.
Since this day we have been in safe hands in terms of medical and physiotherapeutic care.
Our daughter is fine, till today she has not had any evidence of problematic germs.
We have our therapy and she can lead an ordinary life with kindergarten etc.
The issue of a further child was never really defined for us.
A PID (preimplantation diagnostics) is definitely excluded for us, and now I am pregnant again. We are well informed about cystic fibrosis and know the risk of 25% of its inheritance.

Now, I am in the 7th week of pregnancy and we are wondering if we should have a special examination like chorionic villus sampling or amniocentesis done.
Even with a positive result of cystic fibrosis we would decide to keep the baby.
To me it is just a question of certainty, whether the baby has cystic fibrosis or not.
Can one prepare oneself for this better in the clinic? How high is the risk of these interventions? And especially can one do anything immediately after the birth that has a positive effect on the progress?
I would be very thankful for your assessment.

Greetings

Answer

Dear questioner,

If your intention of doing the chorionic villus sampling and the amniocentesis is just to know whether the fetus will have cystic fibrosis or not, without any following consequences (like abortion), I would recommend not to do any of both.
Every intervention is accompanied with potential complications, e.g. like 5-10% with the risk of miscarriage, with the risk of infections and with the risk of rupture of the membranes (amniorrhexis).
The course of the pregnancy would not be changed and the birth would take place like in every normal case.
Basically, I would prefer a medical care and delivery in a perinatal centre (the pediatricians are there on the spot). There you can also discuss the potential risk of a possible cystic fibrosis of the new child.

I hope to have helped you with this answer.

Dr. A.-U. Stücker

13.09.2015