The natural history of pregnancies with prenatal diagnosis of Trisomy 18 or Trisomy 13 : retrospective cases of a 23-year experience in a Brazilian public hospital

• Autor(a) principal: Peña Duque, Julio Alejandro
• Data de Publicação: 2019
• Outros Autores: Ferreira, Charles Francisco, Záchia, Suzana de Azevedo, Sanseverino, Maria Teresa Vieira, Kessler, Rejane Gus, Magalhães, Jose Antonio de Azevedo
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Institucional da UFRGS
• Texto Completo: http://hdl.handle.net/10183/216598
• topic: Síndrome da trissomia do cromossomo 13; Síndrome da trissomía do cromossomo 18; Diagnóstico pré-natal; Aconselhamento genético; Natural histroy of trisomy; Trisomy 13; Trisomy 18; Prenatal diagnosis; Genetic counseling

ABSTRACT Trisomy 18 (T18) and trisomy 13 (T13) are polymalformative syndromes associated with a high rate of spontaneous abortions, intrauterine death, and short postnatal life. This study describes the overall outcome in a country where the therapeutic interruption of pregnancy is not available. The medical records of women with prenatal diagnosis of full trisomy of T13 or T18 between October 1994 and October 2017 were analyzed in order to describe their natural outcomes. Thirteen cases of T13 and 29 cases of T18 were included. The miscarriage rate was 9% for T18 and no cases for T13. Intrauterine fetal death occurred in 46% and 52% of cases for T13 and T18, respectively. The rate of live births for T13 was 54%, and the median survival was one day (95% CI -33.55 - 90.40) and 71% died in the first 24 hours of life. The rate of live births for T18 was 37% and the median survival was two days (95% CI -1.89 - 13.17); 90% of the affected babies died within first week of life. For the affected babies reaching the first year of life and for those who lived longer, multiple invasive and expensive procedures were required, without success in prolonging life beyond 180 days. This large series provides information for professionals and women regarding the natural histories of T13 and T18. Results of this study are consistent with those referenced in the literature, emphasizing the need of structured protocols and guidelines aiming early T13 and T18 diagnosis, prenatal care, gestation/parents follow-up, and counseling processes. For those couples with earlier diagnosis, a better follow-up and counseling during the prenatal care lead to the option for a support or palliative management of the newborn. Finally, when the counseling process is appropriate, it becomes easier to take decisions respecting the parent’s autonomy and to look for better outcomes for both, the mother and the fetus.