A simple model for the estimation of congenital malformation frequency in racially mixed populations

A simple model is proposed, using the method of maximum likelihood to estimate malformation frequencies in racial groups based on data obtained from hospital services. This model uses the proportions of racial admixture, and the observed malformation frequency. It was applied to two defects: postaxial polydactyly and cleft lip, the frequencies of which are recognizedly heterogeneous among racial groups. The frequencies estimated in each racial group were those expected for these malformations, which proves the applicability of the method.

Risk-factors for antepartum fetal deaths in the city of São Paulo, Brazil

OBJECTIVE: To assess risk factors for antepartum fetal deaths. METHODS: A population-based case-control study was carried out in the city of São Paulo from August 2000 to January 2001. Subjects were selected from a birth cohort from a linked birth and death certificate database. Cases were 164 antepartum fetal deaths and controls were drawn from a random sample of 313 births surviving at least 28 days. Information was collected from birth and death certificates, hospital records and home interviews. A hierarchical conceptual framework guided the logistic regression analysis. RESULTS: Statistically significant factors associated with antepartum fetal death were: mother without or recent marital union; mother's education under four years; mothers with previous low birth weight infant; mothers with hypertension, diabetes, bleeding during pregnancy; no or inadequate prenatal care; congenital malformation and intrauterine growth restriction. The highest population attributable fractions were for inadequacy of prenatal care (40%), hypertension (27%), intrauterine growth restriction (30%) and absence of a long-standing union (26%). CONCLUSIONS: Proximal biological risk factors are most important in antepartum fetal deaths. However, distal factors - mother's low education and marital status - are also significant. Improving access to and quality of prenatal care could have a large impact on fetal mortality.

Aortopulmonary window. Clinical and surgical assessment of 18 cases

OBJECTIVE: Aortopulmonary window (APW) is an uncommon congenital malformation. Its clinical presentation is dependent on the size of the defect and on the associated lesions. We evaluated our experience with this anomaly and compared it with 296 cases reported in the literature. METHODS: Retrospective study of 18 patients diagnosed as having APW (age range from 13 days to 31 years, 13 (72.2%) females), divided into two groups: Group A (GA): 10 patients with isolated APW, and Group B (GB): 8 patients with associated lesions. RESULTS: Heart failure occurred in 14 patients, and cyanosis in 3: 2 from GB (tetralogy of Fallot - TF, and double outlet right ventricle - DORV), and one from GA with pulmonary hypertension. In 5 patients from GA the diagnosis of mitral regurgitation was made based on a systolic murmur and LV hypertrophy on the EKG. In GB, clinical findings were determined by the associated defect. Diagnosis was established by echocardiography in 11 (61.2%) of the patients. In 3 patients, a wrong diagnosis of mitral regurgitation was made, in 1 a patent ductus arteriosus was diagnosed and in 3 others, the diagnosis of APW was masked by other important associated defects (2 cases of DORV and 1 case of TF). The diagnosis was made by catheterization in 3 (16.6%) patients, by surgery in 3 (16.6%) and by necropsy in 1 (5.5%). Corrective surgery was performed in 14 (77.7%) patients, with one immediate death and good long-term follow-up in the remaining patients. CONCLUSION: APW can be confused with other defects. Clinical findings, associated with an adequate echocardiogram can provide the information for the correct diagnosis.

Poland 's syndrome: radiologic findings

Poland's syndrome is a rare non-inherited congenital anomaly. The authors describe the classic radiologic findings of Poland's syndrome by reporting the case of a male four-year old patient with asymmetry of hands and chest, illustrating the fundamental imaging criteria for a conclusive diagnosis.

Cisto de colédoco em adulto

Choledochal cyst is a rare congenital malformation of the biliary tree, and aproximately 25% of them are diagnosed in adults. Appropriate surgical management of these lesions depends on the anatomic site and extension of the cystic process. The recognized association of the bile duct cysts with hepatobiliary malignant disease has important surgical implications. Total cyst removal and cholecistectomy with Roux-en- Y hepaticojejunostomy was performed in a 47 year old female with a common bile duct cyst tipe 1 postoperative period was uneventful. A review of literature is presented.

Hérnia de bochdalek em adulto

Bochdalek´s hernia is a congenital malformation of the posterolateral diaphragm region. It is more common on the left and more frequently seen in newborns and rare in adults, with over a few 100 reported cases. We present a case of Bochdalek´s hernia in a 49-year-old patient with long term dyspeptic symptoms. The upper endoscopy showed a gastric fundus herniation sliding into the chest through the diaphragmatic defect. The patient also presented with a rare pulmonary malformation diagnosed during surgery. It was corrected through thoracic approach with no other complications.

Supravalvular Congenital Mitral Stenosis

Congenital supravalvular mitral stenosis is a rare malformation characterized by the presence of a shelf-like fibrous membrane, with 1 or 2 small orifices, covering and obstructing the mitral valve. The membrane is positioned closely to the mitral valve (and sometimes it is attached to it); therefore, a preoperative diagnosis is inevitably difficult, even with the use of biplane echocardiography. Two patients with supravalvular mitral stenosis aged 3 years and 3 months are described. In 1 patient, a preoperative diagnosis was made, and both successfully underwent correction.

Missed opportunities for congenital syphilis and HIV perinatal transmission prevention

OBJECTIVE: To estimate the prevalence of missed opportunities for congenital syphilis and HIV prevention in pregnant women who had access to prenatal care and to assess factors associated to non-testing of these infections. METHODS: Cross-sectional study comprising a randomly selected sample of 2,145 puerperal women who were admitted in maternity hospitals for delivery or curettage and had attended at least one prenatal care visit, in Brazil between 1999 and 2000. No syphilis and/or anti-HIV testing during pregnancy was a marker for missed prevention opportunity. Women who were not tested for either or both were compared to those who had at least one syphilis and one anti-HIV testing performed during pregnancy (reference category). The prevalence of missed prevention opportunity was estimated for each category with 95% confidence intervals. Factors independently associated with missed prevention opportunity were assessed through multinomial logistic regression. RESULTS: The prevalence of missed prevention opportunity for syphilis or anti-HIV was 41.2% and 56.0%, respectively. The multivariate analysis showed that race/skin color (non-white), schooling (<8 years), marital status (single), income (<3 monthly minimum wages), having sex during pregnancy, history of syphilis prior to the current pregnancy, number of prenatal care visits (<6), and last prenatal visit before the third trimester of gestation were associated with an increased risk of missed prevention opportunity. A negative association with missed prevention opportunity was found between marital status (single), prenatal care site (hospital) and first prenatal visit in the third trimester of gestation. CONCLUSIONS: High rates of non-tested women indicate failures in preventive and control actions for HIV infection and congenital syphilis. Pregnant women have been discontinuing prenatal care at an early stage and are failing to undergo prenatal screening for HIV and syphilis.

Congenital cytomegalovirus infection: occurrence in two socioeconomically distinct populations of a developing country

In São Paulo, Brazil, between November 1980 and July 1982, 1614 newborns of middle socioeconomic background and 1156 newborns of low socioeconomic background were examined for the occurrence of congenital cytomegalovirus (CMV) infection by isolation of virus from urine samples or detection of specific anti-CMV IgM in umbilical cord serum tested by immunofluorescence. In the low socioeconomic population prevalence of CMV complement-fixing antibodies in mothers was 84.4%(151/179) and the incidence of congenital infection assessed by virus isolation 0.98% (5/508), as compared with 0.46% (3/648) in the group of newborns tested by detection of specific anti-CMV IgM in umbilical cord-serum. In middle socioeconomic level population prevalence of CMV complement-fixing antibodies in mothers was 66.5% (284/427) and the incidence of CMV congenital infection was 0.39% (2/518) in the group of newborns screened by virus isolation and 0.18% (2/1096) in the group tested by detection of specific anti-CMV IgM. In the present study none of the 12 congenitally infected newborns presented clinical apparent disease at birth.

Ascaris lumbricoides in neonate: evidence of congenital transmission of intestinal nematodes

Clinical and epidemiological study of a forty-days-old infant with a diarrheic condition and insufficient development led to the coprological diagnosis of ascariasis and possible congenital infection. Specific treatment with levamizole, resulted in clinical and parasitological cure, in addition to gain of weight up to normal levels. Maternal parasitism had been diagnosed two months before labor and proved beyond doubt during the ensuing epidemiological inquiry.

PCR in the First Oropharynx Aspirate of the Newborn: A Possible Source for Identification of Congenital Infection Agents

We present a case of prenatal diagnosis of congenital rubella. After birth, in addition to traditional serologic and clinical examinations to confirm the infection, we could identify the virus in the "first fluid aspirated from the oropharynx of the newborn", using polimerase chain reaction (PCR). We propose that this first oropharynx fluid (collected routinely immediately after birth) could be used as a source for identification of various congenital infection agents, which may not always be easily identified by current methods

A survey of congenital Chagas’ disease, carried out at three Health Institutions in São Paulo City, Brazil

The congenital transmission of Chagas’ disease was evaluated in 57 pregnant women with Chagas’ disease and their 58 offspring. The patients were selected from three Health Institutions in São Paulo City. The maternal clinical forms of Chagas’ disease were: indeterminate (47.4%), cardiac (43.8%) and digestive (8.8%); 55 were born in endemic areas and two in São Paulo City. The transmission of Chagas’ disease at fetal level was confirmed in three (5.17%) of the 58 cases studied and one probably case of congenital Chagas’ disease. Two infected infants were born to chagasic women with HIV infection and were diagnosed by parasitolological assays (microhematocrit, quantitative buffy coat-QBC or artificial xenodiagnosis). In both cases the placenta revealed T. cruzi and HIV p24 antigens detected by immunohistochemistry. In one case, a 14-week old abortus, the diagnosis of congenital T. cruzi infection was confirmed by immunohistochemistry. The other probable infection, a 30-week old stillborn, the parasites were found in the placenta and umbilical cord. The Western blot method using trypomastigote excreted/secreted antigens of T. cruzi (TESA) was positive for IgG antibodies in 54/55 newborns and for IgM in 1/55 newborns. One of the two newborns with circulating parasites had no detectable IgG or IgM antibodies. The assessment of IgG antibodies in the sera of pregnant women and their newborns was performed by ELISA using two different T. cruzi antigens: an alkaline extract of epimastigotes (EAE) and trypomastigote excreted/secreted antigens (TESA). The analysis showed a linear correlation between maternal and newborn IgG antibody titers at birth.

Congenital cytomegalovirus infection in a neonatal intensive care unit in Brazil evaluated by PCR and association with perinatal aspects

Cytomegalovirus (CMV) infection is the most common congenital infection, affecting 0.4% to 2.3% newborns. Most of them are asymptomatic at birth, but later 10% develop handicaps, mainly neurological disturbances. Our aim was to determine the prevalence of CMV shed in urine of newborns from a neonatal intensive care unit using the polymerase chain reaction (PCR) and correlate positive cases to some perinatal aspects. Urine samples obtained at first week of life were processed according to a PCR protocol. Perinatal data were collected retrospectively from medical records. Twenty of the 292 cases (6.8%) were CMV-DNA positive. There was no statistical difference between newborns with and without CMV congenital infection concerning birth weight (p=0.11), gestational age (p=0.11), Apgar scores in the first and fifth minutes of life (p=0.99 and 0.16), mother's age (p=0.67) and gestational history. Moreover, CMV congenital infection was neither related to gender (p=0.55) nor to low weight (<2,500g) at birth (p=0.13). This high prevalence of CMV congenital infection (6.8%) could be due to the high sensitivity of PCR technique, the low socioeconomic level of studied population or the severe clinical status of these newborns.

Congenital Chagas disease of second generation in Santiago, Chile. Report of two cases

Congenital Chagas disease (CChD) has been reported in different countries, mostly in Latin America. In 1987 a fatal case of CChD of second generation (CChDSG) was published. Within a period of six months - 1989-1990 - two cases of CChDSG were diagnosed and studied in the city of Santiago. Two premature newborns, sons of two sisters, with moderate liver and spleen enlargement, were found to have positive serology for Chagas disease and xenodiagnoses. The mothers, urban residents all their lives, without antecedents of triatomine bugs contact or blood transfusions, showed positive serology and xenodiagnoses. Their mother (grandmother of the infants), lived 20 years in a Northern rural Chagas disease endemic locality, in a triatomine infested house. Afterwards, she moved to Santiago, where she married and has resided up to now. Serology and xenodiagnoses were also positive. All the Trypanosoma cruzi infected individuals were successfully treated with nifurtimox.