Best care possible

Question

Hello dear expert team,
after 5 years we dared once more to widen our family planning. Background: our daughter has been diagnosed to suffer from CF at the age of 4 months, is in treatment since and she is doing very well. She will be 6 years old, soon.

Now I am in the 11th week of pregnancy and also in best prenatal care. Until now, we exclude an amniocentesis, as the decision is clear.

Now we would like to have good advice and want to know what can we do as soon as the baby is born. Assumingly take heel blood and probably diagnose or not. Probably there is already a hint during pregnancy. In case of our daughter, I had at that time markedly more amniotic fluid and one could see in the ultrasound that she had bulging bowel slings.
We just want to have the best start possible, the best care and to do everything that is possible - we do not care about the costs.

I have heard once, that one can protect the lung of ill babies with a drug within the first 24 hours of life.
We are glad about your advice and hope not to miss anything. The mutations are: delta F508 and a stop mutation.
As always many thanks, we are glad that you are there.

Answer

Hello,
I am glad to hear, that your are in a very good prenatal care. One of the most important complications of a CF is the meconium ileus. An occlusion of the gut by visous secretions. Here hints can be found already before birth in the ultrasound and one can therefore be prepared. Not every meconium ileus has to be operated. Also conservative therapeutic trials are efficient. However, only 20% of CF patients develop such an ileus after birth. Therefore a screening test after birth is very sensible. For this, heel prick blood is put on a screening card and this is then investigated for CF i.a. In addition, the performance of a sweat test after birth makes sense.
An evidence based lung-protective therapy for term newborns with CF is not known. There is good data for preterms concerning induction of lung maturation with cortisone and good data concerning protection against damage of the lung via inhalative budesonide (Bassler D et al. NEJM Oct2015), however this is not a recommendation concerning CF. Here the illness causing background is different.
We recommend the flu vaccination of patients older than 6 months respectively the vaccination of close contact persons. A prophylaxis against RS virus [respiratory syncytial virus] can be discussed.

Best regards,
Dr. Olaf Eickmeier

11.12.2015

3.12.15 Additonally to the newborn screening, the newborn child should undergo a sweat test, that is recommended to all children having siblings with CF, and that is the gold-standard to exclude or make the diagnosis. In case of a positive newborn screening, this is the next step in order to make the diagnosis and to rule out a large percentage of children having positive newborn screenings but not suffering from CF.
The sweat test can be performed after the first 48 hours of life, ideally after 14 days of life. The weight should be at least 3000g and the baby should have at least 36 weeks of gestation. The test should measure the chloride concentration in the sweat via pilocarpine ionotophoresis and should be performed at experienced centers. Values below 30 mmol/l are regarded to be normal, between 30 and 60 mmol/l intermediate and over 60 mmol/l are pathologic, confirming the diagnosis of CF.
D. d'Alquen