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| Oliveira-Brancati,Camila Ive Ferreira; Ferrarese,Valéria Cristina Carvalho; Costa,Antonio Richieri; Fett-Conte,Agnes Cristina. |
| Abstract Birth defects (BDs) are functional and structural alterations in embryonic or fetal development. With an incidence of approximately 3-5%, BDs are a leading cause of infant mortality and lifelong disability. A population-based prospective case-control study was conducted for one year with 5204 infants, between March 1st, 2011 and February 29th, 2012 in the city of São José do Rio Preto, State of São Paulo, Brazil. The incidence of BDs was 3.2% [95% confidence interval (95%CI): 2.8-3.8%]. The most common congenital anomalies were heart diseases in isolation (11.2%; 95%CI: 7.3-16.9%) followed by Down syndrome (9.5%; 95%CI: 5.9-14.8%), neural tube defects (8.9%; 95%CI: 5.4-14.1), urinary tract anomalies (7.7%; 95%CI: 4.4-12.7%), and polydactyly (7.0%;... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Malformation; Congenital anomaly; Fetal development; Genetic counseling; Public health. |
| Ano: 2020 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000100102 |
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| Kalkanli,S; Simsek,S; Balkan,M; Akbas,H; Isi,H; Oral,D; Turkyilmaz,A; Fidanboy,M; Deveci,E; Baran,O; Kalkanli,N; Alp,M. N; Budak,T. |
| Down syndrome is primarily caused by trisomy of chromosome 21. We reviewed cytogenetic studies performed on 1048 patients who were referred to the Cytogenetics Unit at Dicle University Hospital, Diyarbakir, Southeast Turkey, between 2000 and 2009. The cases were grouped according to the reason of referral for cytogenetic analysis. The highest frequencies of abnormal karyotypes were found among cases that were referred due to suspicion of Down syndrome (84.8%). For histologic examination to persons with Down syndrome and normal, buccal mucosa smear was prepared by rubbing. Down syndrome are disabled and control groups were compared statistically buccal epithelial cells and nuclei (p<0.05). Periphery of the nucleus in some patients with Down's syndrome,... |
| Tipo: Journal article |
Palavras-chave: Down syndrome; Buccal mucosa; Southeast Turkey; Chromosomal abnormalities; Genetic counseling. |
| Ano: 2013 |
URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0717-95022013000200053 |
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| Palmero,Edenir I.; Caleffi,Maira; Schüler-Faccini,Lavínia; Roth,Fernanda L.; Kalakun,Luciane; Netto,Cristina Brinkmann Oliveira; Skonieski,Giovana; Giacomazzi,Juliana; Weber,Bernadete; Giugliani,Roberto; Camey,Suzi A.; Ashton-Prolla,Patricia. |
| In 2004, a population-based cohort (the Núcleo Mama Porto Alegre - NMPOA Cohort) was started in Porto Alegre, southern Brazil and within that cohort, a hereditary breast cancer study was initiated, aiming to determine the prevalence of hereditary breast cancer phenotypes and evaluate acceptance of a genetic cancer risk assessment (GCRA) program. Women from that cohort who reported a positive family history of cancer were referred to GCRA. Of the 9218 women enrolled, 1286 (13.9%) reported a family history of cancer. Of the 902 women who attended GCRA, 55 (8%) had an estimated lifetime risk of breast cancer ³ 20% and 214 (23.7%) had pedigrees suggestive of a breast cancer predisposition syndrome; an unexpectedly high number of these fulfilled criteria for... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Breast cancer; Genetic counseling; Hereditary cancer syndromes. |
| Ano: 2009 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572009000300004 |
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| Duque,Julio Alejandro Peña; Ferreira,Charles Francisco; Zachia,Suzana de Azevedo; Sanseverino,Maria Teresa Vieira; Gus,Rejane; Magalhães,José Antônio de Azevedo. |
| 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... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Natural history of trisomy; Trisomy 13; Trisomy 18; Prenatal diagnosis; Genetic counseling. |
| Ano: 2019 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000200286 |
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