Marta Rodríguez de Alba

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We report a girl with Turner syndrome phenotype, whose karyotype on amniocyte culture was 45,X, while cytogenetic analysis on peripheral blood lymphocytes showed the presence of a mosaic chromosome constitution with three different cell lines: 45,X[5]/46,XX[3]/47,XX,+18 [35]. No signs of trisomy 18 were observed and a follow up during childhood revealed(More)
BACKGROUND Ingestion of food allergens present in maternal milk during breastfeeding has been hypothesized as a gateway to sensitization to food; however, this process could develop during pregnancy, as the maternal-fetal interface develops a Th2- and Treg-mediated environment to protect the fetus. We hypothesized that in these surroundings, unborn children(More)
BACKGROUND Since the presence of fetal DNA was discovered in maternal blood, different investigations have focused on non-invasive prenatal diagnosis. The analysis of fetal DNA in maternal plasma may allow the diagnosis of fetuses at risk of cystic fibrosis (CF) without any risk of fetal loss. Here, we present a new strategy for the detection of fetal(More)
Prenatal diagnosis (PD) is available to families affected with propionic acidemia (PA), however, it entails a risk of miscarriage. Fetal DNA circulating in maternal blood could allow performing a safe prenatal diagnosis of fetal mutations. Exclusion of the paternal mutation in maternal plasma may avoid conventional PD in cases of recessive disorders such us(More)
Balanced reciprocal translocation is one of the known causes of recurrent spontaneous abortions. Cytogenetic studies of unbalanced miscarriages are difficult due to the growth failure of early loss and usually macerated abortions. We present a molecular study of an abortion in which the father carries a balanced reciprocal translocation t(2;17)(q32.1;q24.3)(More)
Non-invasive prenatal diagnosis tests based on the analysis of fetal DNA in maternal plasma have potential to be a safer alternative to invasive methods. So far, different studies have shown mainly fetal sex, fetal RhD, and quantitative variations of fetal DNA during gestation with fetal chromosomal anomalies or gestations at risk for preeclampsia. The(More)
Owing to the risk of fetal loss associated with prenatal diagnostic procedures, the last decade has seen great developments in noninvasive prenatal diagnosis (NIPD). The discovery of circulating cell-free fetal DNA (ccffDNA) in maternal plasma has opened new lines of research in alternative technologies that may facilitate safe diagnosis. Because ccffDNA(More)
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