Biomedical subjects
Publications and source records attributed to A Borrell.
Two cases of twin reversed arterial perfusion (TRAP) sequence with relevant ultrasound features that would help an accurate diagnosis are described. Available management options are proposed and discussed.
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Thirteen fetuses (five twin, one triplet) were compromised by fetofetal transfusion syndrome in six pregnancies, five in the mid trimester, and one in the third trimester. This diagnosis, which was suspected because of ultrasound findings of discordant growth, discordant amniotic fluid volumes, concordant external genitalia, and monochorial placentation, was confirmed postnatally in each. Nine fetuses underwent blood sampling to aid diagnosis and assessment of fetal wellbeing. In contrast to fetofetal transfusion syndrome investigated postnatally, a difference in haemoglobin concentration of 50 g/l or more in utero was found in only one pregnancy, which was near term, although all had fetal erythroblastaemia and a difference in weight of 20% or more. In vivo confirmation of shared circulation was achieved in two pregnancies by transfusing adult Rh negative red cells into the smaller fetus and then detecting them by Kleihauer testing in blood aspirated from the larger. Invasive procedures also yielded information on fetal blood gas measurements (acidaemia in four and hypoxaemia in six) and amniotic pressure (raised in two). We suggest that comparison of haemoglobin concentrations is inaccurate in fetofetal transfusion syndrome in utero, the diagnosis of which may necessitate detection of a shared circulation using a marker such as adult red cells.
In order to assess the effectiveness and reliability of cytogenetic diagnosis provided by fetal blood, we report the first 186 cases of fetal blood sampling performed for rapid karyotype between 19-37 weeks of pregnancy in our Prenatal Diagnosis Unit. The overall diagnostic success rate was 98%, achieving 100% in the last period of the study. Chromosomal anomalies were detected in 16% (29/182) of the fetuses. In malformed fetuses this rate increased from 8-9% in isolated malformation or markers of aneuploidy to 50% in multiple malformations. In pregnancies in which a previous cytogenetic study in amniotic fluid was inconclusive, fetal blood made it possible to obtain a definitive result, with no discrepancies found at phenotypic follow-up examination. Interestingly enough, one of the four previously defined as pseudomosaicisms was found to be a non-mosaic in fetal blood, and only 1 of 4 mosaicisms was confirmed in fetal blood. In conclusion, cytogenetic analysis of fetal blood samples appears to be effective, rapid and reliable to establish the fetal karyotype in selected cases.
A case of Fraser syndrome diagnosed prenatally is presented. Detection of oligohydramnios, hydrops fetalis and bilateral absence of the kidneys were the initial findings leading to further study. Specific IgM for cytomegalovirus in maternal serum and confirmed infection by fetal blood sampling was an associated finding. The importance of an etiologic diagnosis of nonimmune hydrops and the relevant aspects of genetic counselling are emphasized. The association of the Fraser syndrome with cytomegalovirus infection has not been previously reported.
This is a prospective screening study addressed to assess the value of femur and humerus shortening in the prenatal detection of Down syndrome. Prior to amniocentesis, 1,543 consecutive pregnancies between 13 and 18 weeks were studied. Femur and humerus shortening were assessed with the use of 6 different ratios, and then correlated with the karyotype obtained in amniotic fluid. Sensitivities achieved for Down syndrome with femur ratios were lower than those using humerus (17-22 vs. 43%) for similar false-positive rates (7-8 vs. 6-8%). The most effective ratio was the observed-to-expected humerus length with 43% sensitivity for a 6% false-positive rate. Combining femur and humerus measurements did not substantially improve the prediction obtained using the best humeral ratio. In conclusion, femur and humerus shortening appears to be of limited value in the detection of Down syndrome.