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2012, Number 05

Ginecol Obstet Mex 2012; 80 (05)

Genetic Disease and Diagnostic Strategies in Stillbirth

Medina CD, Castro LJ, Grether GP, Aguinaga RM

Language: Español
References: 10
Page: 313-319
PDF size: 388.13 Kb.


ABSTRACT

Background: 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.

References

  1. Salihu HM. Epidemiology of stillbirth and fetal central nervous system injury. Semin Perinatol 2008;32:232-238.

  2. Silver RM, Varner MW, Reddy UM, Goldenberg R, Pinar H, Conway D et al. Workup-of stillbirth: A review of the evidence. Am J Obstet Gynecol 2007;196(5):433-444.

  3. Reddy UM, Goldenberg R, Silver RM, Smith GCS, Pauli RM et al. Stillbirth Classification-Developing an International Consensus for research. Obstet Gynecol. 2009;114(4):901-914

  4. Pauli RM. Stillbirth Fetal Disorders. Clin Obstet Gynecol 2010;53(3):646-655.

  5. ACOG Practice Bulletin No 102. American College of Obstetricians and Gynecologists. Management of Stillbirth. Obstet Gynecol 2009;113 (3):748-761.

  6. Wapner RJ. Genetics of Stillbirth. Clin Obstet Gynecol 2010;53(3):628-634.

  7. Gutiérrez ME, Hernández RJ, Luna SA, Flores R, Alcalá LG, Martínez V. Mortalidad perinatal en el Hospital de Ginecoobstetricia núm. 23 de Monterrey, Nuevo León (2002 a 2006). Ginecol Obstet Mex 2008;76(5):243-248.

  8. Hernández-Trejo M, Llano-Rivas I, Rivera-Rueda A, Aguinaga- Ríos M, Mayén-Molina D. Mortalidad Perinatal por defectos estructurales congénitos. Un estudio de sitio. Perinatol Reprod Hum 2007;21:185-192.

  9. Heazell AEP and Martindale EA. Can post-mortem examination of the placenta help determine the cause of stillbirth. J Obstet Gynaecol 2009;29(3):225-228.

  10. Putman MA. Perinatal perimortem and postmortem examination. Obligations and considerations for perinatal, neonatal, and pediatric clinicians. Adv in neonatal care 2007;7(6):281-288.

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