Preimplantation genetic diagnosis (PGD), a collaborative activity of clinical genetic departments and IVF centres

An Erratum has been published for this article in Prenatal Diagnosis 22 (5) 2002, 451. Preimplantation genetic diagnosis (PGD) requires the combined efforts of geneticists and workers in the field of reproductive medicine. This was studied on the basis of a questionnaire, sent to 35 members of the PGD Consortium of the European Society of Human Reproduction and Embryology (ESHRE). A reply was obtained from 20 centres. They represent the majority of activities in the field of PGD in the world. It is obvious that many of the activities (in vitro fertilisation, embryo culture and biopsy) take place in IVF units while others (counselling and diagnosis) are the responsibility of genetic diagnostic centres. The distances between both units vary considerably. In all but one centre sex determination is offered. Aneuploidy screening is offered in 13 out of 20 centres. PGD of translocations and other structural chromosome abnormalities is offered in all but one centre. The number of monogenic diseases offered varies considerably. In comparison to prenatal diagnosis PGD is more expensive. The majority of these costs are due to the IVF or ICSI procedure. The charges for PGD vary between about € 600 and € 4000. In 16 out of 20 centres the parents to be must sign an informed consent form. Copyright © 2001 John Wiley & Sons, Ltd.     

All-offspring dispersal in a tropical mammal with resource defense polygyny

In polygynous mammals, males are usually responsible for gene flow while females are predominantly philopatric. However, there is evidence that in a few mammalian species female offspring may disperse to avoid breeding with their father when male tenure exceeds female age at maturity. We investigated offspring dispersal and local population structure in the Neotropical bat Lophostoma silvicolum. The mating system of this species is resource defense polygyny, with the resource being active termite nests, excavated by single males, which are then joined by females. We combined field observations of 14 harems during 3 years and data about the genetic structure within and between these groups, calculated with one mitochondrial locus and nine nuclear microsatellite loci. The results show that both male and female offspring disperse before maturity. In addition, we estimated life span of excavated termite nests and the duration they were occupied by the same male. Our findings suggest that long male tenure of up to 30 months is indeed a likely cause for the observed dispersal by female offspring that can reach maturity at a low age of 6 months. We suggest that dispersal by offspring of both sexes may occur quite frequently in polygynous tropical bats and thus generally may be more common in mammals than previously assumed.     

Prenatal sonographic diagnosis of the 49,XXXXY syndrome

The 49,XXXXY syndrome is a rare sex chromosome anomaly with an approximate incidence of 1 in 85 000 male live births. The diagnosis is usually ascertained postnatally by the association of mental retardation, variable growth deficiency, Down syndrome-like facial dysmorphy, hypogenitalism and other malformations, especially involving the heart and skeleton. Prenatal diagnosis of the pentasomy 49,XXXXY is generally fortuitous and sonographic features have rarely been described in the literature. We report here on two cases of 49,XXXXY syndrome diagnosed prenatally because of sonographic abnormalities. In the first, amniocentesis was performed at 26 weeks' gestation for polyhydramnios, unilateral clubfoot and micropenis. In the second, a karyotype was carried out on chorionic villi at 13 weeks' gestation for cystic hygroma. These observations and the six previously reported cases demonstrate that cystic hygroma in first or second trimester of pregnancy may be associated with sex chromosome aneuploidy other than Turner syndrome. Moreover, they emphasize the importance of detailed sonographic examination in the second trimester, as small penis and abnormal posturing of the lower extremities are very suggestive of the 49,XXXXY syndrome. Copyright © 2002 John Wiley & Sons, Ltd.