Chromosomal and cardiac anomalies in fetuses with intracardiac echogenic foci.

OBJECTIVE: To evaluate the prevalence of intracardiac echogenic foci (ICEF) and the association between ICEF and chromosomal and cardiac anomalies in Brazilian women. METHODS: In a cross-sectional observational study, 373 of the 23,360 genetic sonograms performed at a private maternal-fetal medicine clinic over 5 years showed intracardiac echogenic foci (ICEF). These 373 sonograms were reviewed for chromosomal and cardiac anomalies and associations were analyzed using the chi(2) test or the Fisher exact test. P<0.05 was considered significant. RESULTS: The prevalence of ICEF was 1.7%. Cardiac anomalies were detected in 10 sonograms (2.7%) and chromosomal anomalies in 14 (3.7%). There were cardiac defects in 6 (1.7%) of the 359 euploid fetuses with isolated ICEF. Of the 373 women who had fetuses with ICEF, 295 were younger than 35 years and 78 were 35 years or older. There were 6 fetuses (2.1%) with aneuploidy in the younger group and 8 (10.3%) in the older group. CONCLUSION: The prevalence of ICEF was 1.7%, and there was an association between cardiac and chromosomal anomalies. Women carrying fetuses with ICEF should be offered fetal echocardiography and karyotyping.

Venous-arterial Doppler ratios in the prediction of acidemia at birth in pregnancies with placental insufficiency.

OBJECTIVES: Investigate the prediction of birth acidemia in pregnancies with placental insufficiency using two newly created venous-arterial Doppler ratios: pulsatility index (PI) of the ductus venosus (DV) over PI of the middle cerebral artery (MCA) and PI of the DV over PI of the umbilical artery and establish cut-off values for this prediction. METHODS: This was a prospective cross-sectional study involving 47 patients with placental insufficiency managed in two Brazilian hospitals. All pregnancies were singleton, over 26 weeks of age and without structural or chromosome anomalies. A ROC curve was calculated for the venous-arterial ratios (independent variable) and acidemia (dependent variable). RESULTS: The DV/AU PI ratio was not a good predictor of acidemia at birth. The DV/MCA PI ratio was related to fetal acidemia (area under the ROC curve 0.785, p = 0.004). The cut-off value was 0.582, sensibility 66.7%, specificity 77.1% and accuracy 74.5%. CONCLUSIONS: The DV/MCA PI ratio is adequate for the diagnosis of acidemia at birth in pregnancies with placental insufficiency. The cut-off value was 0.582.

Recovery of fertility after grafting of cryopreserved germinative tissue in female rabbits following radiotherapy.

BACKGROUND: Many cancer survivors face infertility as a consequence of the aggressive treatment they must undergo. Cryopreservation of ovarian tissue before chemotherapy or radiotherapy may allow for tissue transplantation after the treatment, and restoration of fertility. We tested the potential of an orthotopic autografting of cryopreserved germinative tissue in female rabbits with ovarian failure following radiotherapy. METHODS: Ten adult multiparous female rabbits were randomly allocated into two groups, five in group I (control) and five in group II (transplant). All rabbits underwent right oophorectomy with cryopreservation of the germinative tissue, followed by sterilization of the remaining left ovary by radiotherapy. Later, group II rabbits received in the irradiated left ovary an implant of the frozen germinative tissue from the right ovary, whose small pieces were freely spread intracortically in a procedure we named 'intracortical sowing of germinative tissue' (ISGT). RESULTS: All group II rabbits conceived following spontaneous mating within 6 months of the transplant, whereas none of the remaining rabbits in group I had conceived up to 11 months after transplant. CONCLUSIONS: This study suggests that fertility can be restored in rabbits by sowing cortical tissue in a previously irradiated ovary. The clinical feasibility of this technique remains to be determined.

Reversed diastolic umbilical artery flow in the first trimester associated with chromosomal fetal abnormalities or cardiac defects.

BACKGROUND: Six cases have been reported of reversed end-diastolic umbilical artery (UA) blood flow at 10-14 weeks' gestation. Four were associated with chromosomal anomalies, and one showed congenital heart disease. CASES: This report describes two cases of reversed end-diastolic UA flow at 10 and 12 weeks' gestation with increased nuchal translucency in which cytogenetic analysis by chorionic villus sampling showed triploidy (69,XXX) and trisomy 9, respectively. In second case, the fetus had a ventricular septal defect. CONCLUSION: Reversed end-diastolic UA flow in the first trimester might be an important sign of chromosomal abnormalities in early pregnancy and might be a useful signal for the diagnosis of early cardiac defects.

Reverse flow in the umbilical vein in a case of trisomy 9.

This report describes a case of reverse flow in the umbilical vein and ductus venosus during atrial contraction of a fetus at 12 weeks of gestation with increased nuchal translucency (9.1 mm). In addition, Doppler velocimetry detected high retrograde flow in the inferior vena cava. Cytogenetic analysis of chorionic villi revealed trisomy 9. We suggest that these findings may be a first trimester sign of chromosomal and cardiac abnormalities in the fetus.

Detection of functional changes of the fetal heart in the first trimester of gestation.

The authors consider the possibility of using color Doppler of the ductus venosus and the measurement of nuchal translucency as a screening test for alterations in fetal cardiac functions in the first trimester of gestation. Review of the literature suggests that the combination of the ultrasonographic measurement of nuchal translucency and Doppler at 10 and 14 weeks of gestation can be effective in detecting certain cardiac abnormalities. This conclusion, however, is preliminary and needs to be further investigated.

Clinical-epidemiologic study of schistosomiasis mansoni in Ponte do Pasmado, a village in the municipality of Itinga, state of Minas Gerais, Brazil, 1992.

A clinical-epidemiologic study of schistosomiasis mansoni was conducted in the population of Ponte do Pasmado, a village in the municipality of Itinga, state of Minas Gerais, Brazil. Faecal parasitology by the Kato-Katz method and clinical examination were performed in 93.8% and 82.8% of the local population, respectively. A socioeconomic survey was also made and the signs and symptoms presented by the patients were recorded, as well as their contacts with natural waters. The rate of Schistosoma mansoni infection was 50.3%; the peak of infection occurred during the second decade of life; there was a predominance of low egg counts in faeces (85.89% of positive patients eliminated less than 500 eggs per gram of faeces); the splenomegaly rate was 1.23%. When the risk factors for S. mansoni infection were studied, significant risks were detected in activities such as fetching water, washing dishes, bathing, and crossing streams.

[Bernard-Soulier syndrome and pregnancy: a case report]. / Syndrome de Bernard-Soulier et grossesse: un cas.

This is the fifth case of the Bernard-Soulier syndrome to be described in the literature. The ante-natal period, the delivery and post-partum course without any complications. The platelet concentrations were used ante-natally and after delivery.