2012, Number 05
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ABSTRACTBackground: Stillbirth occurs in about 1 in 1000 pregnancies. The causes are maternal, fetal, and placental; but in half of the cases, no cause can be determined. Genetic disease, a common cause of stillbirth, is diagnosed in 25-35% of patients with birth defects.
Objective: Describe birth defects found in stillbirth cases at the Instituto Nacional de Perinatología in a period of 3 years, analyze risk factors in each pregnancy, and propose an adequate approach to effectively reach the proper diagnosis of defined genetic entities related to stillbirth.
Material and methods: All stillbirths cases presenting birth defects and assessed by the Department of Genetics from January 2008 to December 2010 were included in this study.
Results: We evaluated 55 stillbirths with birth defects. 31% of them showed multiple defects; 14.5%, single defects; 20%, single gene disorders; 14.5%, chromosomal abnormalities; 9%, disruptive processes; 7%, non-immune fetal hydrops, and 4% twin pregnancy. The karyotype was obtained in all cases from amniocentesis, and in half of them from umbilical cords as well. In 95% of the cases prenatal findings were confirmed through prenatal USG, and necropsy was performed in 74.5% of them.
Conclusion: Ultrasound, karyotype, autopsy and assessment by a medical geneticist allowed an accurate diagnosis in 81% of cases. Genetic counseling helps reduce parental anxiety and stillbirth from unknown causes.
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