[Medical counselling in the context of prenatal diagnostics]. / Arztliche Beratung im Kontext pränataler Diagnostik.

Counselling of patients is an essential part of medical treatment. Especially in prenatal diagnostics, a differentiated and professionally competent information before, during and after diagnosing is of great importance. In most of the cases examination is not indispensable to life for the pregnant woman; the results, however, can lead to dramatic decision conflicts. Therefore it is imperative to discuss importance and consequences of the possible results before diagnostics. Moreover, the medical counselling situation during pregnancy differs from other medical consultations by the fact that according to our legislation the pregnancy and thus the fetus' right to exist can be called into question in case of an existing (medical) indication. The basic principle of the counselling is to create a common communication basis during which an understandable and comprehensible interexchange is possible in order to make it possible to the pregnant to find an appropriate decision. Five case examples taken from medical practice demonstrate the complexity of ethical-moral and psychosocial aspects and therewith the special challenge of prenatal diagnostics in medical counselling.

Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene.

We report on three hydropic fetuses of 17, 22 and 25 gestational weeks from three distinct families presenting with Desbuquois dysplasia type 1. All fetuses showed brachymelia and characteristic dysmorphic features. X-ray studies revealed δ-shaped extraphalangeal bones and disease-specific prominence of the lesser trochanter, varying in severity with fetal age. Early lethal manifestation of the disorder was reflected in lung hypoplasia and in early death of similarly affected siblings in cases 1 and 2. All families were German Caucasians by descent. Sequence analysis of the CANT1 gene revealed two frameshift mutations, c.228_229insC and c.277_278delCT, in homozygous and compound heterozygous configuration, respectively, and a homozygously novel missense mutation, c.336C>A (p.D112E), located within a highly conserved region of exon 2. Haplotype analyses by high-resolution single-nucleotide polymorphism array showed that the haplotype associated with c.228_229insC may be traced to a single founder in the German population.