fetus with large nuchal translucency

Otázka

I terminated my pregnancy at 24th week of gestation because the fetus developed hydropsy and pericardiac fluid. I have a first and second cousin with CF. My parents come from the same village, as well as the parents of my cousins. I was tested for 95% of CF mutations and my husband for 90% with negative results. The fetus was tested for 65% of CF mutations with negative results and its molecular karyotype is normal as well. It had a large nuchal translucency from the start (7.6 mm) with no other symptom. Can you tell me the symptoms it would present if it suffered from CF?

Odpověď

Dear friend,
You terminated your pregnancy due to severe hydropsy. Hydropsy is not associated with CF.
There is a family CF history with two of your cousins suffering from CF.
You have been checked for 95% of CF mutations and your husband for 90% of CF mutations with negative results. I would like to know the answers you and your husband received, and I would like you to contact me to find out about your cousins’ genotype.
Dear friend, based on the information you provided, you and your husband have been checked very well, and I do not think further testing is required for your next pregnancy.
Yours friendly,
Dr. Stavros Doudounakis

07.01.2018