Heart defects, congenital Archives - Revista Brasileira de Ginecologia e Obstetrícia

  • Artigos Originais

    Perinatal and pediatric follow up of children with increased nuchal translucency and normal karyotype

    Revista Brasileira de Ginecologia e Obstetrícia. 2013;35(6):274-280

    Summary

    Artigos Originais

    Perinatal and pediatric follow up of children with increased nuchal translucency and normal karyotype

    Revista Brasileira de Ginecologia e Obstetrícia. 2013;35(6):274-280

    DOI 10.1590/S0100-72032013000600007

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    PURPOSE: To analyze the perinatal and pediatric outcome of fetuses that showed nuchal translucency (NT) above the 95th percentile (P95) and a normal karyotype in order to obtain data allowing better maternal prenatal counseling. METHODS: fetuses from a tertiary obstetric service with an NT above P95 and a normal karyotype were analyzed between 2005 and 2011. We analyzed gestational ultrasound follow-up, fetal and postnatal echocardiography (ECHO), weight, length and Apgar score at birth, and neuropsychomotor development by the Ages and Stages Questionnaire (ASQ) up to July 2012. RESULTS: During this period, there were 116 cases of nuchal translucency above the 95th percentile, and the fetal karyotype was determined in 79 of them (68%). Forty-three analyses were normal (54.4%) and 36 were altered (45.6%). Among the fetuses with a normal karyotype, one was miscarried at 15 weeks of gestation with Cantrel pentalogy and one died at 24 weeks with several structural abnormalities. There was one neonatal death of unknown cause and two cases of intraventricular communication (IVC) detected by fetal ECHO. Postnatal echocardiography revealed the persistence of IVC in one case and one case of atrial septal defect (ASD) and patent ductus arteriosus (PDA). Of the 40 surviving children, only 1 showed delayed speech development and another presented autism. The remaining cases resulted in normal neurodevelopment. CONCLUSION: During the monitoring of fetuses with increased NT and a normal karyotype, parents can be best advised that when a 2nd trimester morphological-echocardiography ultrasound study is normal, the probability of the child being born alive and well is high (93.5%).

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    Perinatal and pediatric follow up of children with increased nuchal translucency and normal karyotype
  • Revisão

    Obstetric ultrasound between the 11th and 14th weeks: beyond the screening for chromosomal abnormalities

    Revista Brasileira de Ginecologia e Obstetrícia. 2011;33(1):49-57

    Summary

    Revisão

    Obstetric ultrasound between the 11th and 14th weeks: beyond the screening for chromosomal abnormalities

    Revista Brasileira de Ginecologia e Obstetrícia. 2011;33(1):49-57

    DOI 10.1590/S0100-72032011000100008

    Views1

    This is a traditional (narrative) review with the objective of highlighting the contribution of obstetric ultrasonography (US) between the 11th and 14th week of pregnancy, commonly called first trimester anomaly scan. In addition to being used for the screening of chromosomal anomalies, US can be employed during this period to confirm or determine gestational age, evaluate fetal anatomy, diagnose malformations, screen major structural abnormalities and genetic syndromes, define the prognosis of pregnancy, diagnose and characterize multiple pregnancies, and screen preeclampsia and intrauterine growth restriction. The most important studies about this subject published between 1990 and 2010 in the Cochrane and PubMed libraries were included. The selected studies can be classified with scientific levels I to III.

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    Obstetric ultrasound between the 11th and 14th weeks: beyond the screening for chromosomal abnormalities
  • Artigos Originais

    Congenital cardiopathies screening associated with diabetes mellitus using maternal fructosamine plasma concentration

    Revista Brasileira de Ginecologia e Obstetrícia. 2010;32(2):66-71

    Summary

    Artigos Originais

    Congenital cardiopathies screening associated with diabetes mellitus using maternal fructosamine plasma concentration

    Revista Brasileira de Ginecologia e Obstetrícia. 2010;32(2):66-71

    DOI 10.1590/S0100-72032010000200003

    Views1

    PURPOSE: to evaluate the importance of maternal plasma concentration of fructosamine as an indicator of fetal congenital cardiopathies in pregnancies complicated by diabetes mellitus. METHODS: this was a retrospective study conducted on 91 pregnant women with diabetes mellitus who underwent routine fetal echocardiography at a university reference center in fetal medicine. Sixty-five patientes who presented pre-gestational diabetes mellitus and plasma fructosamine level were registered in the medical records prior to the ultrasound exam. The first measurement recorded was compared with the result of routine fetal echocardiography, carried out by a specialist physician of the service. The presence or absence of echocardiographic findings of congenital cardiopathies (EFCC) was related to plasma levels of fructosamine by the mean t-test and its accuracy for EFCC was verified by the ROC curve. Plsama fructosamine concentrations of 2.68, 2.9 and 2.23 mmol/L, which are, respectively, the local reference laboratory values, the value of the kit employed for measurement and the one of highest overall accuracy, were discussed as the cut-off values. RESULTS: EFCC was found in 52.3% of the fetuses. The first measurement of fructosamine, during the prenatal care period, was performed, on average, at 20.4±8.0 weeks of pregnancy. The maternal concentration ability of the fructosamine to identify fetuses with EFCC was significant (p<0.0001) and had an area under the ROC curve of 0.78 (95%CI=0.66-0.89). The 2.9 mmol/L plasma concentration of fructosamine revealed EFCC with better specificity, but with a higher percentage of false-negative results (96.8 and 55.9%). Values above 2.68 mmol/L were associated with a probability of 4.6 to identify fetuses with EFCC compared with lower values, with 58.8% of sensitivity and 87.1%, specificity. The value of 2.23 mmol/L proved to be the most overall accurate of the three values suggested, with a sensitivity of 88.2% in the identification of fetuses with echocardiographic abnormalities. CONCLUSIONS: it is possible to use a second trimester plasma fructosamine level to refer high risk pregnant women to a reference center of fetal echocardiography. These findings are important for the management of women with diabetes mellitus who initiate late prenatal care.

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    Congenital cardiopathies screening associated with diabetes mellitus using maternal fructosamine plasma concentration

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