OBJECTIVE: To describe gestational, perinatal and family findings of patients with Patau syndrome (PS). METHODS: The study enrolled patients with PS consecutively evaluated during 38 years in a Clinical Genetics Service of a pediatric referral hospital in Southern Brazil. The clinical data and the results of cytogenetic analysis were collected from the medical records. For statistical analysis, the two-tailed Fisher's exact test and the chi-square test with Yates' correction were used, being significant p0.05. RESULTS: The sample was composed of 27 patients, 63% were male, with a median age of nine days at the first evaluation. Full trisomy of chromosome 13 was the main cytogenetic finding (74%). Only six patients were submitted to obstetric ultrasound and none had prenatal diagnosis of PS. The patients' demographic characteristics, compared to born alive infants in the same Brazilian state showed a higher frequency of: mothers with 35 years old or more (37.5%); multiparous mothers (92.6%); vaginal delivery (77%); preterm birth (34.6%); birth weight 2500g (33.3%), and Apgar scores 7 in the 1st (75%) and in the 5th minute (42.9%). About half of them (53%) died during the first month of life. CONCLUSIONS: The understanding of the PS patients' gestational, perinatal and family findings has important implications, especially on the decision about the actions to be taken in relation to the management of these patients.
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机译：目的：描述佩特综合征（PS）患者的妊娠，围产期和家庭发现。方法：在巴西南部海区儿科推荐医院的临床遗传服务中，该研究招募了38岁的38岁患者。从病历中收集了临床资料和细胞遗传学分析结果。对于统计分析，使用双尾Fisher的确切测试和使用yates校正的Chi-square测试，显着P <0.05。结果：该样品由27例患者组成，63％是男性，第一次评价中位年龄为9天。染色体13的完整三族是主要的细胞遗传学发现（74％）。只有六名患者提交产科超声，没有pS的产前诊断。患者的人口统计特征与同一巴西国家的出生婴儿相比表现出更高的频率：35岁或以上的母亲（37.5％）;多体母亲（92.6％）;阴道递送（77％）;早产（34.6％）;出生体重<2500g（33.3％），Apgar分数<7 in 1st（75％）和第5分钟（42.9％）。大约一半（53％）在生命的第一个月死亡。结论：对PS患者的妊娠期，围产期和家庭发现的理解具有重要意义，特别是关于关于与这些患者管理有关的行动的决定。
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