Topics

Hyperechogenic bowel
I am having my first pregnancy. During the second level ultrasound a very mild hyperechogenic bowel was detected, as well as an echogenic field in the heart. The doctor said that if these findings do not recess by the 28th-30th week I must do an amniocentesis. I did the test for CF. What do you ...
18.04.2013
Cervical mucus impenetrable???
Hello, Some time ago I wrote that I have been trying to become pregnant for 4,5 years (I am 23 years old, 50kg, 1.60m, lung function 70-78%). When I was a baby I had an abdominal surgery done (intestinal occlusion) which caused concretions; these were removed about one year ago. However, it ...
14.03.2013
Polar body diagnostics
Dear expert team, My partner (age 32) and I (age 38) are both genetic carriers for CF and our daughter (19 months) has cystic fibrosis. We would like to have another child and of course we would be very happy if it would be healthy. By reason of our ethical attitude termination of pregnancy ...
26.02.2013
Diagnostics / Desire for a child
I am a German gynecologist and have a medical practice in France. I have a patient who has a desire for a child and whose sister has CF. Which diagnostics should be made?
26.02.2013
CF & heterozygous?
Dear reader, After reading your articles on CF (thank you for that) I still have one question. I was diagnosed with F508del and R117H, heterozygous, polymorphism IVS8-Tn: 7T/9T. I am confused about the part “homozygous and heterozygous” and in what grade it can cause illness. I ...
24.01.2013
Contraception in case of CF with diabetes
Dear expert team, I (22 years old, CF) have a few general questions, that could either not be answered satisfactorily by my gynaecologist nor by my CF-doctor. 1. Which contraceptional method is the one most suitable in case of a CF patient with induced diabetes- except condom? Also in respect ...
21.01.2013
CBAVD G551D Mutation
During a diagnostic work-up for azoospermia I (32 years old) was diagnosed with a heterozygous G551D mutation. If this is indeed CBAVD (congenital bilateral absence of the vas deferens), shouldn’t there be a further (undetected) mutation? I have been having slight digestive problems for a year ...
17.01.2013
Follow-up question on PID and CF
In Dr. Christina Smaczny's answer to the question "Diagnostics during pregancy, and termination" [http://ecorn-cf.eu/index.php?id=65&tx_expertadvice_pi1[showitem]=2028&tx_expertadvice_pi1[search]=PID], the following passage can be found: "Due to the methodical effort involved, this procedure ...
14.12.2012
Pregnant with CF, how is the child born
Dear expert team, I am pregnant and have CF, and would now like to know how the birth of the child will happen. Will it be born in the usual way or by cesarian section? What would be the gentler way for the mother? Many thanks in advance and kind regards.
20.11.2012
Prenatal diagnosis
Hello, I am the mother of an 8.5 month old baby with cystic fibrosis. My husband and I would like to have other children, but we would like to know more about prenatal screening technique. We heard about a test developed at the Necker Hospital, which involves analyzing the mother's blood. Is ...
15.11.2012
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