Follow-up in the field of reproductive medicine: an ethical exploration.

Research Question: What ethical implications, issues and concerns play a role in conducting follow-up studies of children born after assisted reproductive technologies (ART)?

Design: Literature study and relevant experiences of academic medical centres in Brussels, Belgium, and Maastricht, the Netherlands were used to identify and analyse the most pertinent ethical implications, issues and concerns.

Results: According to recommendations from the European Society of Human Reproduction and Embryology, follow-up (ideally long term) of children conceived through medically assisted reproduction (MAR) should be an integral part of introducing new ART. With potentially risky new ART on the horizon, these recommendations need to be taken more seriously.

Pulmonary Sarcoidosis.

A 34-year-old male teacher was referred to the hospital with a persisting dry cough and dyspnea on exercise since eight weeks. He had no fever, neither complaints of ear, nose or throat. There were no complaints during the night.

PGD and heteroplasmic mitochondrial DNA point mutations: a systematic review estimating the chance of healthy offspring.

Background: Mitochondrial disorders are often fatal multisystem disorders, partially caused by heteroplasmic mitochondrial DNA (mtDNA) point mutations. Prenatal diagnosis is generally not possible for these maternally inherited mutations because of extensive variation in mutation load among embryos and the inability to accurately predict the clinical expression. The aim of this study is to investigate if PGD could be a better alternative, by investigating the existence of a minimal mutation level below which the chance of an embryo being affected is acceptably low, irrespective of the mtDNA mutation.

Jeune syndrome: description of 13 cases and a proposal for follow-up protocol.

Jeune syndrome (asphyxiating thoracic dystrophy, ATD) is a rare autosomal recessive skeletal dysplasia characterized by a small, narrow chest and variable limb shortness with a considerable neonatal mortality as a result of respiratory distress. Renal, hepatic, pancreatic and ocular complications may occur later in life. We describe 13 cases with ages ranging from 9 months to 22 years.

Termination of damaged protein repair defines the occurrence of symptoms in carriers of the m.3243A > G tRNA(Leu) mutation.

Background: The m.3243A>G mutation in the mitochondrial tRNA(Leu(UUR)) gene is an example of a mutation causing a very heterogeneous phenotype. It is the most frequent cause (80%) of the MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes), but it can also lead in addition or separately to type 2 diabetes, deafness, renal tubulopathy and/or cardiomyopathy.