Trissomia do cromossomo 13: relato de caso de síndrome de Patau

Abstract

Patau syndrome (PS) is a chromosomal anomaly caused by an extra copy of chromosome 13, with a prevalence of 1:5000 to 1:20000 live births. Advanced maternal age stands out among the risk factors. The most frequent clinical findings include malformations of the central nervous system, which determine a poor prognosis, with death in less than 1 year in up to 90% of cases. The diagnosis can be suggested by morphological alterations in ultrasound examinations and confirmation is made by invasive examinations to evaluate the fetal karyotype. Some biochemical markers can be quantified in diagnostic complementation. This article aims to report the case of a pregnant woman treated at the Hospital Santa Casa de Misericórdia de Ribeirão Preto with a fetal diagnosis of PS associated with alobar holoprosencephaly, discussing care and investigation during prenatal care, social aspects of care, childbirth care and neonatal prognosis. The diagnosis was confirmed during prenatal care, after amniocentesis, and at 33 weeks and 3 days of gestation, premature rupture of the membranes occurred, resulting in vaginal delivery. After 3 days of life, in neonatal intensive care unit care, the newborn presented bradycardia and desaturation, evolving to death. The report presents important aspects in the management of such cases, which, in addition to technical obstetric support, require multidisciplinary support, mainly psychological, defining goals and perspectives with the patient and family, considering the reserved prognosis, providing humanization to the care, and minimizing sequelae and negative repercussions in the life of the mother and family.