Strategies for prenatal and preimplantation genetic diagnosis in Marfan syndrome (MFS)

Marfan syndrome (MFS) is an autosomal dominant disorder with a prevalence of 2–3 per 10 000 individuals. Symptoms range from skeletal overgrowth, cutaneous striae to ectopia lentis and aortic dilatation leading to dissection. Prenatal diagnosis was until recently mainly performed in familial cases by linkage analysis. However, mutation detection has become available with thorough screening methods. The phenotypic variability observed in MFS makes reproductive options difficult, as molecular diagnosis cannot predict clinical severity of the disease. Data are presented on 15 prenatal and/or preimplantation genetic diagnoses (PGD) in nine families, originating from Belgium, the Netherlands, Spain and France. In four families data from linkage analysis were used, whereas in five other families the causative FBN1 mutation was characterised. Four PGD cycles in two couples led to one ongoing pregnancy. In addition, two amniocenteses and nine chorionic villus (CV) samplings were performed. In five pregnancies an affected fetus was diagnosed. In one of them, the couple chose to continue the pregnancy and an affected child was born, whereas the other four couples decided to terminate the pregnancy. It is expected that the greater availability of mutation testing of the FBN1 gene will increase requests for prenatal diagnosis. PGD appears to be an acceptable alternative for couples facing ethical reproductive dilemmas. Copyright © 2002 John Wiley & Sons, Ltd.     

Prenatal determination of uridine diphosphate galactose-4-epimerase activity

A prenatal diagnosis has been performed in a pregnancy at risk for uridine diphosphate galactose-4-epimerase deficiency, an enzyme variation causing severe symptoms in the neonatal period similar to those of classical galactosaemia. The postnatal enzyme investigation, and uneventful development of the child, indicate that the prediction of an unaffected, heterozygous, fetus was correct.     

Genetic amniocentesis in twin pregnancy

Among 1041 pregnancies 13 twin gestations were detected by routine ultrasonography prior to genetic amniocentesis at the Department of Prenatal Physiopathology of the University of Bologna. Clear amniotic fluid from both sacs was obtained in 12 of 13 sets of twins. All 12 sets were cytogenetically normal with normal levels of α-fetoprotein. Only one patient spontaneously aborted liveborn immature twins 30 days after the procedure. The technique used to obtain samples of fluid is described in detail and the need for additional counselling prior to amniocentesis in twins is stressed.     

Loft features reveal the functioning of the young pigeon’s navigational system

It is thought that young homing pigeons are able to use information acquired en route for their initial homeward orientation. However, the cues involved and mechanisms utilised are under discussion. Blocking light-dependent route-specific information during the first leg of an outward journey detour, together with analysis of pigeons that were raised under different loft conditions, allowed us to correctly evaluate the functioning of this mechanism and, more generally, the navigational map of birds. Pigeons from the same stock were raised and kept in two different lofts. The birds in the experimental groups were transported to the release sites via detours, and light-dependent information was denied during the first half of the outward journey (no compass information was available). Control birds were transported by the most direct route and had access to all available information. In general, the results showed that the low-loft birds preferred to use magnetic compass cues, whereas the high-loft birds preferred to use navigational map cues to collect information of the first part of the outward journey. The impairments observed in the homing performances of the experimental groups highlight the reliability of information collected inside the map area. Relevant to an understanding of the route-reversal mechanism was the evidence that this mechanism is able to function in the absence of compass information (birds raised in a wind-exposed loft show a detour effect). In systems where directional information could be provided by multiple sources, processing and extracting accurate course trajectories through a common mechanism may prove more efficient and reliable.