Phenotypic variability in fetuses with down syndrome: a case-control pathological evaluation.

OBJECTIVES: Evaluation of morphological and morphometric characteristics of fetuses with Down syndrome based on a detailed postmortem examination and comparison of these fetuses with a control group of fetuses with normal karyotype to improve the prenatal knowledge of Down syndrome characteristics. MATERIAL AND METHODS: A case-control study was undertaken in a tertiary referral hospital. The Down syndrome fetuses (50) were compared with chromosomally normal fetuses (47) matched for gestational age. Biometric and morphological parameters were compared. RESULTS: The biometry of fetuses with Down syndrome differs from control fetuses only in the occipitofrontal diameter and in the nasal bone length. There were craniofacial anomalies in 96% of fetuses with Down syndrome and in 51% of fetuses with normal karyotype. With the exception of small ears, all craniofacial features analyzed were significantly different between Down syndrome fetuses and control fetuses. All extremity features of fetuses with Down syndrome were significantly different from fetuses without Down syndrome. There were 31 fetuses with Down syndrome (62%) with 55 internal anomalies. Nineteen fetuses (38.8%) showed 27 cardiac anomalies. Six fetuses had more than one anomaly. There were 18 fetuses (36%) with 28 noncardiac anomalies. DISCUSSION: The importance of studying the morphological characteristics of fetuses with Down syndrome is the contribution to a better knowledge of fetal characteristics and probably to optimize prenatal diagnosis.

Systematic fetal autopsy in cases of medical termination of pregnancy due to chromosomal abnormalities: improving the quality of perinatal care?

OBJECTIVES: Evaluation of the clinical utility of systematically performing autopsy after termination of pregnancy (TOP) due to chromosomal abnormalities. METHODS: A retrospective study of cases of TOP due to chromosomal abnormalities was performed between 1 January 2002 and 30 September 2007, in a tertiary referral hospital. A comparative study between prenatal ultrasonographic findings and postmortem findings was performed. RESULTS: There were 57 cases of TOP due to chromosomal abnormalities. The median gestational age at TOP was 17 (range 14-24 weeks). There were 46 trisomies, 4 monosomies, 4 triploidies and 3 cases of structural anomalies. In 25 cases (43.9%) there was at least one major anomaly detected by ultrasound. In 15 cases (26.3%) additional information was obtained after fetal autopsy: in 7 cases further major structural anomalies were detected, and in 8 cases the presence of a major abnormality was not confirmed by the autopsy. CONCLUSION: Fetal autopsy may provide additional information to the ultrasonographic morphological evaluation of the fetus submitted to TOP due to chromosomal abnormalities. The combination of prenatal ultrasound and pathological examination can broaden our knowledge of the natural history of chromosomal anomalies in the earlier stages of development and eventually contribute to improve the quality of perinatal care.

Concordance for bilateral congenital diaphragmatic hernia in a monozygotic dichorionic twin pair - first clinical report.

The authors present a clinical case of concordance for bilateral congenital diaphragmatic hernia in a monozygotic twin pair diagnosed in the early second trimester.

Renal tubular dysgenesis: report of two cases in a non-consanguineous couple and review of the literature.

Renal tubular dysgenesis is a rare congenital abnormality of renal development characterized by short and poorly developed proximal convoluted tubules. It is associated to late-appearing oligohydramnios, Potter's sequence, pulmonary hypoplasia and calvarial bone hypoplasia with enlarged fontanels. The onset of oligohydramnios is delayed and variable, normally later than 22 weeks of gestation, conditioning variation in the expression of the other deformities. We report 2 cases of renal tubular dysgenesis occurring in a non-consanguineous couple.

Determination of rates of cerebral blood flow during the gestation period under 33 weeks colour doppler pulse study

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Early antenatal diagnosis of cardiac defects using transvaginal Doppler ultrasound: new perspectives?

OBJECTIVE: Cardiac defects are the most prevalent congenital anomalies. Screening policies have adopted an 18- to 22-week ultrasound scan to detect such anomalies. However, diagnosis may be feasible early in pregnancy using transvaginal Doppler ultrasound. METHODS: Transvaginal ultrasound, including nuchal translucency (NT) measurement, is routinely performed at 10-13 weeks of gestation at our department. Complementary arterial and venous blood flow Doppler evaluation is also performed in cases of increased NT as a part of an ongoing research project. RESULTS: Ultrasound revealed complete atrioventricular septal defects in 2 trisomic fetuses (trisomy 18 and 21) at 12 and 13 weeks of gestation, respectively, with increased NT and abnormal venous blood flow velocity. CONCLUSIONS: Increased NT has been associated with major chromosomal anomalies and is being increasingly related to cardiac defects. Considering that venous blood flow patterns may provide additional clues to the cardiac function, it may be useful as a complementary tool for the earlier diagnosis of structural cardiac anomalies.

Anomalous fetal venous return associated with major chromosomopathies in the late first trimester of pregnancy.

We report three cases of increased nuchal translucency at 12-13 weeks of gestation in three fetuses with trisomies 13, 18 and 21. All three fetuses were associated with anomalous venous return evaluated by Doppler ultrasonography. Complete pathological examination was performed following termination in each case. We suggest that alterations in the venous compartment can be an early sign of poor outcome and should prompt a detailed search for cardiac defects early in gestation.

Prognosis in colorectal carcinoma. A reassessment of the pathologist's role.

The prognostic significance of some pathologic features was evaluated in a series of 177 patients with colorectal carcinoma consecutively treated by curative resection in a department of Surgery from 1960 to 1981. There were 90 men and 87 women with a mean age of 59.2 +/- 12.8 and a range from 23 to 88 years. Current follow-up information was obtained in 92.7% of the patients. Pathologic staging as classified according to a modification of Dukes' original scheme was found to be the most important prognostic factor. Evaluation of lymphatic and venous invasion, histologic differentiation, and site of tumors also provided valuable prognostic information. Size, configuration, mucin-producing ability and the morphologic evaluation of the so-called "host immunologic response" were found to be irrelevant for the prognosis when the influence of the other indices was controlled.

Traumas oculares causados por agressoes em 70 pacientes. / Ocular traumas caused by personal attack in 70 patients

Num estudo realizado em 307 pacientes com traumatismos oculares, internados no servico de oftalmologia do Hospital Municipal Souza Aguiar no periodo de 15 meses, foram registrados 70 casos de agressoes. O agente causal mais frequente do trauma ocular foi a pedrada seguida do projetil da arma de fogo (PAF), ocasionando graves ferimentos perfurantes de globo ocular. O estudo das causas que levam a agressao implica numa profunda analise do comportamento humano e social, nao sendo esse o nosso proposito. Consideracoes sobre alguns aspectos estatisticos sao aqui abordados visando possiveis medidas preventivas, que possam contribuir para diminuir as agressoes ou os seus efeitos