Pregnancies genetic defect a possible reason for preterm birth

Premature births are often caused by a genetic defect?
Among other things, premature births can be triggered by a strong increase in the amount of amniotic fluid (polyhydramnios) during pregnancy, although the causes for this have so far mostly remained unclear, according to information from the University Hospital Cologne. An interdisciplinary working group of the university hospital succeeded now however "to identify a mutation, which contributes to the increase of the amniotic fluid quantity." Their results published the researchers in the journal "New England Journal of Medicine".

The large increase in amniotic fluid intake and the resulting dangers for the course of pregnancy have so far been insufficiently researched. With their current study, the scientists of the University of Cologne could now prove that a certain genetic defect can lead to disturbances in the regulation of the amount of amniotic fluid and consequent pregnancy complications. "The contribution is groundbreaking for the study of amniotic fluid regulation and renal function of the fetus in the womb," according to the Cologne University Hospital.

A certain genetic defect can lead to increases in the amount of amniotic fluid and consequent premature births. (Image: GordonGrand / fotolia.com)

Cologne researchers identify previously unknown gene mutations
The research team around Dr. Bodo Beck from the Institute of Human Genetics, together with scientists from the Cologne Center for Genomics (CCG), the Medical Clinic II and the Institute of Pathology at the University Hospital Cologne has shown that in male fetus mutations in the gene MAGED2 lead to an extreme increase of the amount of amniotic fluid (Polyhydramnion ), which in turn can be the cause of a premature birth.

So far, the function of the gene MAGED2 is not completely understood, explain the researchers. However, it has now been shown for the first time that "this gene exerts important control functions in the kidney of the fetus with regard to urine production and thus serves to maintain an adequate amount of amniotic fluid in the second trimester of pregnancy", reports the University of Cologne. With mutations of the gene strong increases of the amniotic fluid amount are possible, which represent a risk for the pregnancy course.

Complications early predictable
An investigation of the MAGED2 gene could already bring benefits today, explain the researchers. "The affected boys have a good long-term prognosis according to current knowledge. There is no evidence of persistent kidney disease. Thus, we can save unnecessary further diagnostics in the detection of a MAGED2 mutation for mother and child and avoid unnecessary medical long-term treatment. " Bodo Beck in the press release of the University Hospital Cologne. In addition, the possibility of transferring pregnant women with evidence of a MAGED2 mutation to a specialized center with experience in the treatment of preterm infants with transient renal impairment is timely. (Fp)