Of 31 prenatally diagnosed CDH cases 38% are alive, of 20 ongoing pregnancies 60% are alive, and of 13 babies who underwent surgery 92% are alive. No baby with associated malformations survived. These numbers need to be known by each member of the counselling team in order to give parents adequate information to make their decision.

The present study demonstrates the value of FISH on paraffin-embedded tissues as an adjunct for understanding the etiology of SAs for those cases in which karyotype is not available. Combination of pathological and FISH analysis increases the yield of diagnosis by a factor of 3.2. The results also demonstrate that predictions of the karyotype from pathological examination should be avoided.

No abstract