Preterm birth and Genetics International Alliances (PREGENIA) VISION

PREGENIA’s vision is to elucidate the cause of preterm birth and to understand the mechanisms behind so preventions can be made in an early stage.

The objective of PREGENIA is to develop a research effort to reduce mortality amongst newborn children. The specific aim of the research programme will be to identify genes which could predispose women to preterm birth, a major cause of newborn mortality. This, in turn, would allow for the development of screening procedures to enable identification of women at risk, for whom appropriate obstetric and newborn care could be assured. In addition it would provide new and important knowledge on the causes of preterm birth which are, at present, largely unknown. The study would thus contribute to the development of effective preventive and intervention strategies to diminish the excessive burden of disease associated with preterm birth, especially among the poorest populations. The reduction of child mortality is amongst the Millennium Development Goals set by the United Nations to be attained by 2015. Despite a decline in mortality rates in children under 5 years of age in the last few decades, neonatal mortality rates have not changed substantially. While child mortality rates are expected to decrease due to the wide implementation of effective interventions such as vaccines and oral re-hydration therapy, the proportion of neonatal deaths is likely to increase. Newborn health is one of the most striking examples of health inequity in the world. 98% of the 3.9 million neonatal deaths each year occur in the poorest countries of the world. These figures are even more catastrophic because for every early neonatal death (3 million) a stillbirth occurs. Perinatal deaths are responsible for approximately 7% of the total global burden of disease in the world. This exceeds that caused by vaccine-preventable diseases and malaria together. The disparity between rich and poor countries in neonatal mortality is unacceptably large and continues to increase. Of all neonatal deaths, 28% are due to being born preterm. In the developed world, the most serious sequelae of prematurity and highest risk of death occur in those preterm neonates born at less than 32 weeks or weighing less than 1500 grams. In the developing world, the morbidity and mortality associated with prematurity are devastating even at later gestational ages. In those countries preterm birth is estimated to cause 28% of all newborn deaths, and represents a major cause of newborn mortality together with infection and birth asphyxia. Despite the importance of the problem insufficient resources have been brought to bear to discover the underlying causes of preterm birth, in part because it disproportionably affects the most disenfranchised segments of the populations, the youngest and the poorest socio-economic strata in both developing and developed countries. There is evidence that the risk of having a preterm birth may be increased in women with genetic predisposition. Studies with twins and of recurrences within families confirm that genetics underlies about 40% of the risk for prematurit. However, we still do not know which are the genes associated with that risk. Therefore determining those genes that are associated with spontaneous preterm birth will have important public health implications.

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