Prenatal phenotype of a homozygous nonsense MPDZ variant in a fetus with severe congenital hydrocephalus.

The fetal phenotype of MPDZ-associated congenital hydrocephalus type 2 with or without brain or eye anomalies (HYC2) (OMIM 615219) is not well described in the literature. The present case shows not previously published clinical fetal features that are detected during routine second trimester ultrasound screening at 21 weeks of gestation such as bilateral ventriculomegaly, lean cavum septum pellucidum, suspicion of hypoplastic corpus callosum, and suspicion of gyration disorder with normal fossa posterior. Combination of clinical features and a gene panel for congenital malformation syndromes detected a homozygous, likely pathogenic nonsense variant in the MPDZ gene.

Ferryman between two cultures: The calling of a historian of science.

In well-established disciplines like history it is not common to find professionals who admit that they are driven by a "calling" or who say they have a "mission" to fulfill. In emerging disciplines, however, the situation is different: in order to gain recognition these new disciplines need highly driven practitioners, who's calling enables them to overcome opposition or neglect from the side of the established disciplines. A clear example of such a practitioner with a mission in an emerging field of knowledge is the Dutch historian of science Eduard Jan Dijksterhuis (1892-1965).

Searching for a sense of closure: parental experiences of recontacting after a terminated pregnancy for congenital malformations.

Rapid advances in genetic testing have improved the probability of successful genetic diagnosis. For couples who undergo a termination of pregnancy (TOP) due to foetal congenital malformations, these techniques may reveal the underlying cause and satisfy parents' need to know. The aim of this qualitative descriptive research study was to explore couples' experience of being recontacted after a congenital malformation-related TOP, as well as their reasons for participation.

Practical Reasoning and Practical Argumentation: A Stakeholder Commitment Approach.

This paper examines the conceptual and terminological overlap between theories and models of practical deliberation developed within the fields of Practical Reasoning (PR) and Practical Argumentation (PA). It carefully delineates the volitional, epistemic, normative, and social commitments invoked and explicates various rationales for attributing the label 'practical' to instances of reasoning and argumentation. Based on these analyses, the paper develops a new approach to practical deliberation called the Stakeholder Commitment Approach (SCA).

Pregnancy termination at a viable stage in daily clinical practice: A nationwide mortality follow-back study in Flanders, Belgium.

Objective: Congenital malformations are frequently diagnosed prenatally even at a viable stage. No adequate registration of incidence and characteristics of late termination of pregnancy (TOP) or abortion for medical reasons exists in Flanders.

Methods: Nationwide mortality follow-back survey sent to physicians signing death certificates of all stillbirths for 22 weeks gestation onward (September 2016-December 2017) in Flanders, Belgium.