Regina Amélia Lopes Pessoa de Aguiar

Neural tube defects and associated factors in liveborn and stillborn infants

OBJECTIVES To evaluate the prevalence and factors associated to neural tube defects in liveborn and stillborn infants delivered at the Hospital das Clínicas, UFMG, from January 8, 1999 to July 31, 2000. METHODS This is a descriptive study, based on a database, according to the Latin-American Collaborative Study of Congenital Malformation (ECLAMC) rules. Reports on liveborn and stillborn infants with congenital anomalies were prepared including information about morphological description, necropsy results, complementary exams, family, social and pregnancy histories and other clinical data. Each malformed liveborn infant originated a control of the same sex, without malformations. The liveborn and stillborn infants with neural tube defects delivered during that period were classified according to their defect and the presence or absence of associated defects. The liveborn and stillborn infants with neural tube defects were compared to newborns without neural tube defects according to their weight and sex and their mothers age and parity. Epi-Info 6.0 Program was used for the statistical analysis of the results. RESULTS The prevalence of neural tube defects was 4.73 to 1,000 deliveries (89:18,807); it was significantly higher among stillborn infants (23.7:1,000) than among liveborn infants (4.16:1,000), p < 0.001. Neural tube defects were more often found among low weight liveborn infants (< or = 2,500 g), p < 0.001 and less frequently among women who had had more than three gestations, p = 0.007. No association was found regarding newborns sex or maternal age. There was no association with newborns sex and weight, maternal parity or age among stillborn infants. The most common neural tube defects were myelomeningocele (47.2%), anencephaly (26.9%) and encephalocele (16.9%). The defects were found as isolated anomalies in 71.1% of the liveborn and 38.5% of the stillborn infants; they were part of a syndrome in 9.2% (liveborn) and 7.7% (stillborn). CONCLUSION The neural tube defect prevalence found in this study was higher than the one described in international and Latin-American literature.

Avaliação da aplicação do protocolo de triagem pré-natal para toxoplasmose em Belo Horizonte, Minas Gerais, Brasil: estudo transversal em puérperas de duas maternidades

This cross-sectional study of 420 women in two public maternity hospitals from August 2004 to May 2005 evaluated the application of a prenatal toxoplasmosis serological screening protocol in Belo Horizonte, Minas Gerais State, Brazil, and the information provided to susceptible pregnant women. Ninety-eight percent of women received prenatal care and 97% underwent the initial serological screening test, at an average of 16 weeks gestational age. The initial testing identified 163 women as susceptible to toxoplasmosis: 44% of these did not undergo repeat serological testing, and 42% of them did not remember having received information on the prevention of toxoplasmosis infection. Early prenatal care and a high number of prenatal visits were associated with repeat serological testing and orientation regarding its implications. Orientation on risk factors included: avoiding contact with cats (95%), not handling or eating raw meat (70%), and washing vegetables carefully before consumption (53%). Inadequate adherence to the prenatal screening protocol for toxoplasmosis, as detected in this study, may be generating health system costs without a corresponding improvement in the quality of perinatal care.

Early risk factors for neonatal mortality in CAKUT: analysis of 524 affected newborns

BackgroundCongenital abnormalities of the kidney and urinary tract (CAKUT) are significant causes of morbidity. The aim of the study was to determine predictive factors of mortality in newborns with CAKUT.MethodsAll 29,653 consecutive newborns hospitalized in a tertiary neonatal unit between 1996 and 2006 were evaluated. The main outcome was neonatal mortality. The variables analyzed as risk factors were maternal age, first pregnancy, low birth weight (LBW), prematurity, oligohydramnios, and CAKUT associated with other malformations (Associated CAKUT).ResultsCAKUT was detected in 524 newborns, with an overall prevalence of 17.7 per 1,000 live births. A total of 325 (62%) cases were classified as urinary tract dilatation, 79 (15.1%) as renal cystic disease, and 120 (22.9%) as other subgroups. In the urinary tract dilatation subgroup, independent risk factors for early mortality were Associated CAKUT [odds ratio (OR) 20.7], prematurity (OR 4.5) LBW (OR 3.8), oligohydramnios (OR 3.0), and renal involvement (OR 3.0). In the renal cystic disease subgroup, two variables remained associated with neonatal mortality: LBW (OR 12.3) and Associated CAKUT (OR 21.4).ConclusionThe presence of extrarenal anomalies was a strong predictor of poor outcome in a larger series of infants with CAKUT.

Presentation of congenital heart disease diagnosed at birth: analysis of 29,770 newborn infants

OBJECTIVE To estimate the prevalence rate and study the clinical presentation and associated factors of congenital heart diseases diagnosed at birth between August 1990 and December 2003, at the Maternity Unit of the Hospital das Clínicas, Universidade Federal de Minas Gerais, Brazil. METHODS A retrospective, database driven study, part of the Latin-American collaborative study of congenital malformations. Records were reviewed on all live born (LB) and stillborn (SB) infants with congenital heart diseases diagnosed by postnatal echocardiogram or by autopsy. Data on birth weight, sex, age and parity were collected for the LB and studied for associations. The statistical analysis employed Pearsons chi-square test and multinomial logistic regression. RESULTS During the period studied there were 29,770 births (28,915 LB and 855 SB). The prevalence of heart disease among the LB was 9.58:1,000 (277/28,915) while among SB the rate was 87.72:1,000 (75/855). Heart disease occurred isolated in 37.2% of LB cases and 18.7% of SB cases; was associated with anomalies of other organs and systems, but without a syndromic diagnosis in 31.4% of LB cases and 48.0% of SB cases; and in 23.1% of the LB cases and 32.0% of the SB cases the heart disease was a feature of a syndrome. Multivariate analysis demonstrated an association between heart disease and birth weight <or= 2,500 g in all types of clinical presentation, between maternal age >or= 35 years and heart disease in syndromic heart disease and between female sex and isolated heart disease. CONCLUSIONS It was found a high prevalence, which is an alert to the medical significance of heart disease. There was association between birth weight <or= 2,500 g and all forms of presentation, between increased maternal age and syndromic heart disease besides between female sex and isolated congenital heart disease.

Oculodentodigital dysplasia: study of ophthalmological and clinical manifestations in three boys with probably autosomal recessive inheritance

Oculodentodigital dysplasia (ODDD) is a rare inherited disorder affecting the development of the face, eyes, teeth, and limbs. The majority of cases of ODDD are inherited as an autosomal dominant condition. There are few reports of probable autosomal recessive transmission. Affected patients exhibit a distinctive physiognomy with a narrow nose, hypoplastic alae nasi, and anteverted nostrils, bilateral microphthalmos, and microcornea. Sometimes iris anomalies and secondary glaucoma are present. There are malformations of the distal extremities such as syndactyly. In addition, there are defects in the dental enamel with hypoplasia and yellow discoloration of the teeth. Less common features include hypotrichosis, intracranial calcifications, and conductive deafness secondary to recurrent otitis media. We describe three brothers with ODDD. Their parents are first cousins and present no features of ODDD. These data are in favor of autosomal recessive inheritance and suggest genetic heterogeneity for this entity.

Apresentação das cardiopatias congênitas diagnosticadas ao nascimento: análise de 29.770 recém-nascidos

OBJECTIVE: To estimate the prevalence rate and study the clinical presentation and associated factors of congenital heart diseases diagnosed at birth between August 1990 and December 2003, at the Maternity Unit of the Hospital das Clinicas, Universidade Federal de Minas Gerais, Brazil. METHODS: A retrospective, database driven study, part of the Latin-American collaborative study of congenital malformations. Records were reviewed on all live born (LB) and stillborn (SB) infants with congenital heart diseases diagnosed by postnatal echocardiogram or by autopsy. Data on birth weight, sex, age and parity were collected for the LB and studied for associations. The statistical analysis employed Pearsons chi-square test and multinomial logistic regression. RESULTS: During the period studied there were 29,770 births (28,915 LB and 855 SB). The prevalence of heart disease among the LB was 9.58:1,000 (277/28,915) while among SB the rate was 87.72:1,000 (75/855). Heart disease occurred isolated in 37.2% of LB cases and 18.7% of SB cases; was associated with anomalies of other organs and systems, but without a syndromic diagnosis in 31.4% of LB cases and 48.0% of SB cases; and in 23.1% of the LB cases and 32.0% of the SB cases the heart disease was a feature of a syndrome. Multivariate analysis demonstrated an association between heart disease and birth weight £ 2,500 g in all types of clinical presentation, between maternal age ³ 35 years and heart disease in syndromic heart disease and between female sex and isolated heart disease. CONCLUSIONS: It was found a high prevalence, which is an alert to the medical significance of heart disease. There was association between birth weight £ 2,500 g and all forms of presentation, between increased maternal age and syndromic heart disease besides between female sex and isolated congenital heart disease.

Perfil das gestantes infectadas pelo HIV atendidas em pré-natal de alto risco de referência de Belo Horizonte

OBJECTIVES: identify HIV infected pregnant women in a referral center and investigate characteristics related to infection and parity. METHODS: a cross-sectional study comprising all HIV infected women treated at the High Risk Prenatal Care in the Hospital das Clinicas da Universidade Federal de Minas Gerais, in 2004. Demographic data, HIV epidemiology infection and obstetrical history were collected. For statistical analysis SPSS 12.0 was used. RESULTS: eighty five women median aged 29.1 and 90 pregnancies were followed-up. In 55 pregnancies (61.1%) women had prior information of the infection. Sixty four (71.1%) informed they lived together. Probably they all acquired HIV in heterosexual relations. Fifty four (60%) were diagnosed during one of the pregnancies. The global pregnancies median was 3.5, and 1.71 following diagnosis. Patients with prior diagnosis had a higher pregnancy median as compared to those who were diagnosed during their pregnancies (p = 0.002). Eighty six pregnant women made use of anti-retroviral medication, 56.7% through therapeutic indication. No vertical transmission cases were determined. CONCLUSIONS: new pregnancies in HIV infected women are not rare notwithstanding contraceptive resources offered. Therefore, further investigations are necessary to identify what difficulties not previously approached they have during routine medical assistance.

Clinical complications in pregnant women with sickle cell disease: prospective study of factors predicting maternal death or near miss

Objective To evaluate complications in pregnant women with sickle cell disease, especially those leading to maternal death or near miss (severe obstetric complications). Methods A prospective cohort of 104 pregnant women registered in the Blood Center of Belo Horizonte (Hemominas Foundation) was followed up at high-risk prenatal units. They belonged to Group I (51 hemoglobin SS and three hemoglobin S/β0-thalassemia) or Group II (49 hemoglobin SC and one hemoglobin S/β+-thalassemia). Both groups had similar median ages. Predictive factors for ‘near miss’ or maternal death with p-value ≤ 0.25 in the univariate analysis were included in a multivariate logistic model (significance set for p-value ≤ 0.05). Results Group I had more frequent episodes of vaso-occlusive crises, more transfusions in the antepartum and postpartum, and higher percentage of preterm deliveries than Group II. Infections and painful crises during the postpartum period were similar in both the groups. The mortality rate was 4.8%: three deaths in Group I and two in Group II. One-third of the women in both the groups experienced near miss. The most frequent event was pneumonia/acute chest syndrome. Alpha-thalassemia co-inheritance and β-gene haplotypes were not associated with near miss or maternal death. In multivariate analysis predictors of near miss or death were parity above one and baseline red blood cell macrocytosis. In Group I, baseline hypoxemia (saturation < 94%) was also predictive of near miss or death. Conclusion One-third of pregnant women had near miss and 4.8% died. Both hemoglobin SS and SC pregnant women shared the same risk of death or of severe complications, especially pulmonary events.

What is the best tool for screening antenatal depression

BACKGROUND Antenatal depression (AD) can have devastating consequences. No existing scales are specifically designed to measure it. Common practice is to adapt scales originally developed for other circumstances. We designed this study to validate and determine the psychometric values for AD screening in Brazil. METHODS We collected clinical and socio-demographic data in the second gestational trimester. The following instruments were also administered during that period: MINI-PLUS, EPDS, BDI and HAM-D. RESULTS At the time of assessment, 17.34% of the patients were depressed, and 31.98% met the diagnostic criteria for lifetime major depression. All instruments showed an area under the curve in a receiver operating characteristic analysis greater than 0.85, with the BDI achieving a 0.90 and being the best-performing screening instrument. A score ≥11 on the EPDS (81.58% sensitivity, 73.33% specificity), ≥15 on the BDI (82.00% sensitivity, 84.26% specificity) and ≥9 on the HAM-D (87.76% sensitivity, 74.60% specificity) revealed great dichotomy between depressed and non-depressed patients. Spearman׳s rank correlation coefficients (ρ) among the scales had good values (EPDS vs. BDI 0.79; BDI vs. HAM-D 0.70, and EPDS vs. HAM-D 0.67). LIMITATIONS This study was transversal, assessing only women in the second gestational trimester. Results may be applicable only to the Brazilian population since psychometric properties may vary with the population under study. Major depression can amplify somatic symptomatology, affecting depressive rating scale data. CONCLUSION AD is highly prevalent in Brazil. To address the problem of under-recognition, physicians can use the EPDS, BDI and HAM-D to identify AD.

Pre and perinatal aspects of congenital cystic adenomatoid malformation of the lung

Abstract Objective: To identify the incidence of congenital cystic adenomatoid malformation of the lung (CCAM) at birth; to evaluate prenatal and perinatal history, association with clinical and sociodemographic variables and concordance between CT scan results and anatomopathology studies. Method: Descriptive study based on the registry of malformed newborns, deliveries and patients records between August 1990 and November 2010. Ultrasonic, clinical, imaging and anatomopathologic information were studied. Association studies were made using chi-square test. Kappa was used to correlate CT scan to anatomopathology results. Results: The incidence was 1:1980 (25/49 503). The mean gestational age for detection by ultrasonography was 24 ± 3.7 weeks. There were progression of the lesions in 11 cases (44%), stability in 6 (24%) and regression in 8 (32%). Three cases of CCAM followed due to polyhydramnios/hydrops died. There were neither familial cases nor association with sex, weight, age or maternal parity (p > 0.15). Radiographic abnormalities were found in 22/23 studied patients. The correspondence between CT scan and anatomopathologic was 0.77 (Kappa). Conclusions: The incidence was higher than the one described in the literature, probably, because it is a reference center in fetal medicine. The prenatal lesion involution rate was 32%, an intermediate proportion. There was good concordance between CT scan and anatomopathologic results. The polyhydramnios/hydrops were predictive of worst prognosis.