Ana Maria Arruda Lana

Changes in placental morphology of small for gestational age newborns

OBJECTIVE To verify changes in placental morphology of small for gestational age newborns, considering that the occurrence of placental alterations is more frequent in small for gestational age (SGA) infants than in appropriate for gestational age (AGA) infants. METHODS Fifty SGA newborns were included in a cross-sectional study, which involved gross anatomy and light microscopy of placenta, membranes and umbilical cord. An equal size sample of randomized AGA newborns was used. All children were born at Maternidade Terezinha de Jesus, Juiz de Fora-MG, between February and November, 1996. After an informed consent was given by the mothers, the newborns were weighted at birth with assessment of length and head circumference. Every childs placenta, membranes and umbilical cord were sent to the laboratory of histology and embryology of the Department of Morphology of Universidade Federal de Juiz de Fora and Department of Pathology and Forensic Medicine of Universidade Federal de Minas Gerais. RESULTS Placentas of SGA newborns differed significantly with greater incidence of chorioamnionitis, placental infarction, extensive perivillous fibrin deposition and multiple foci of parabasal chronic villitis. They were also lighter and had smaller diameters. Placentary index (placental weight/newborńs weight ratio) was also significantly greater, indicating that although both placenta and small for gestational age newborn presented low weight, placentas impairment was smaller. CONCLUSIONS Placentas of small for gestational age newborns differed significantly if compared to those of adequate gestational age.

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.

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.

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.

Comparação dos Métodos para Diagnóstico da Toxoplasmose Congênita

Objective: to test the effectiveness of the polymerase chain reaction (PCR) in the amniotic fluid for the detection of fetal contamination due to Toxoplasma gondii in pregnant women with acute infection and to correlate it with the inoculation technique and the histology of the placenta. Methods: thirty-seven patients were prospectively studied and the diagnosis was based on the identification of maternal acute infection followed by amniocentesis guided by ultrasound to obtain amniotic fluid for PCR and mice inoculation. The mothers were treated with spiramycin throughout pregnancy; when fetal infection was demonstrated, pyrimethamine and sulfadiazine were added to the regimen. The placentas were processed for histologic examination. The infants were followed for a period that varied from three to 23 months for the confirmation or exclusion of congenital toxoplasmosis. Results: association measures such as sensitivity, specificity and predictive values were calculated for PCR in the amniotic fluid, detection of the parasite through mice inoculation and placental histology and showed the following results: PCR values of sensitivity = 66.7% and specificity = 87.1%; the respective values for mice inoculation were 50 and 100% and for the placental histology were 80 and 66.7%. Conclusion: although PCR should not be used alone for the prenatal diagnosis of congenital toxoplasmosis, it is a promising method and deserves more studies to improve its efficacy.

Mutational analysis of two boys with the severe perinatally lethal Melnick–Needles syndrome†

Melnick–Needles syndrome (MNS) (OMIM 309350) is a rare, X‐linked dominant condition, caused by mutations in the filamin A gene (FLNA, on Xq28). In females, the syndrome presents with bone dysplasia and characteristic facial changes. Affected males may show two different phenotypes. One is similar to the female phenotype and is seen in children born to unaffected mothers and suggesting new mutations. Alternatively, males born to affected mothers have an embryonic or perinatally lethal disorder. It has been claimed that MNS constitutes part of a spectrum including frontometaphyseal dysplasia, otopalatodigital syndrome type 1 (OPD1) and otopalatodigital syndrome type 2 (OPD2). These conditions are produced by different mutations in the filamin A gene (FLNA). MNS is caused by three different mutations in FLNA exon 22, to date detected only in females. We describe the clinical manifestations and present the results of FLNA exon 22 mutations screening in two boys with the perinatally lethal form of MNS and their affected mothers. In order to obtain DNA amplification from paraffin‐embedded tissues, we designed a new method based on hemi‐nested PCR. One of the children (and his mother) had a previously undescribed mutation produced by a double SNP in the positions 3776 and 3777 of the gene and leading to an amino acid substitution (NP_001447:p.[Gly1176Asp]). The second child (and his mother) had an already known mutation (NP_001447.2:p[.Ser1199Leu]). This is the first report confirming the presence FLNA mutations in boys with the perinatally lethal phenotype of MNS.

Outcome of fetal urinary tract anomalies associated with multiple malformations and chromosomal abnormalities

The purpose of this study was to identify prognostic factors and describe the outcome of prenatally detected renal anomalies associated with multiple malformations and chromosomal defects. Forty‐one fetuses were included in the analysis. Prenatal ultrasound reports, neonatal records and autopsy information were retrospectively reviewed. Prognostic factors associated with fetal echography and clinical and laboratory findings on admission were studied. Data were analyzed by univariate analysis in which variables associated with adverse outcome were identified by the Chi‐square test or Fisher exact test. The abnormalities associated with renal anomalies were divided into three groups: chromosomal defects (21%), previously described syndromes and conditions (24%), and new sporadic conditions (55%). Of 41 children admitted, 30 (76%) died during the perinatal period. The presence of oligohydramnios was significantly associated with an adverse outcome (OR=11, p=0.05). Male gender was a protective factor against death during the perinatal period (OR=0.11, p=0.01). In conclusion, prenatally detected renal anomalies associated with multiple malformations and chromosomal defects had a poor prognosis. The presence of oligohydramnios increased the risk of death, and male gender had a protective role against poor outcome. Copyright

Choque séptico puerperal por Streptococcus β-hemolítico e síndrome de Waterhouse-Friderichsen

An exceptional case of a 15-year-old puerpera with septic shock caused by Group A beta-hemolytic Streptococcus and Waterhouse-Friderichsen syndrome is reported. The findings were observed at the necropsy. The characteristics of the diagnosis, pathogenesis and evolution of this puerperal infection (sepsis), associated with adrenal hemorrhage and insufficiency are reviewed in this paper.

Estudo sobre a contribuição da autópsia como método diagnóstico

INTRODUCAO: As taxas hospitalares de autopsias vem diminuindo mundialmente, atingindo niveis criticos no Hospital das Clinicas da Universidade Federal de Minas Gerais (HC-UFMG) no que concerne a autopsias nao-perinatais. OBJETIVO: Verificar se houve diminuicao da relevância da autopsia no HC-UFMG. METODOLOGIA: Realizou-se estudo comparativo entre diagnosticos clinicos e post mortem, estabelecendo taxas de discordância com impacto terapeutico ou prognostico em duas amostras aleatorias de 80 autopsias realizadas no HC-UFMG nos anos 1970 e outras 80 nos anos 1990, incluindo procedimentos perinatais e nao-perinatais. RESULTADOS: Autopsias nao-perinatais (adultos e criancas) predominaram na decada de 1970. As perinatais (natimortos e neomortos) predominaram na decada de 1990, com discordâncias em 56% dos casos. Discordâncias parciais, com correta classificacao de malformacoes congenitas pela autopsia, foram as mais frequentes. Nao houve discordâncias na maioria das autopsias de criancas na decada de 1970; entretanto, a maioria destas na amostra da decada de 1990 revelou discordâncias. Em relacao aos adultos, a frequencia de erros diagnosticos nao apresentou alteracoes significativas entre as decadas de 1970 (68%) e 1990 (57%). Infeccoes bacterianas e tromboembolismo pulmonar constituiram frequentes condicoes nao diagnosticadas clinicamente na decada de 1970; nos anos 90, os diagnosticos nao formulados em vida formaram grupo heterogeneo de doencas. CONCLUSAO: A autopsia permanece util como metodo diagnostico, apesar de restritamente utilizada na atualidade. E necessaria elevacao das taxas de autopsias nao-perinatas para evitar os efeitos deleterios de sua ausencia no ensino, na pesquisa e no controle de qualidade da assistencia medica.

Neonatal listeriosis: the importance of placenta histological examination-a case report.

Neonatal listeriosis is not a rare disease, but it is infrequently diagnosed and reported in the literature. Herein we report a case of listeria lethal sepsis, followed by increased cytokines levels in the cord blood, in which diagnosis was made possible by histological examination of the placenta.