Publications by authors named "Rosa Gomez Portero"
Article Synopsis
- Genome-wide prenatal cell-free DNA (cfDNA) screening can detect various fetal chromosomal anomalies, including common trisomies and rare autosomal aneuploidies, based on a study of 6,000 pregnant patients in Spain.
- Out of the patients screened, 3.3% were identified as high-risk, with specific incidences noted for trisomy 21, 18, 13, and other anomalies, leading to effective calculations of positive predictive values (PPVs) for each condition.
- The study also tracked pregnancy and birth outcomes, revealing that some anomalies were linked to adverse conditions like preeclampsia and preterm birth, highlighting the effectiveness and clinical relevance of cfDNA screening in prenatal care
Glycosylphosphatidylinositol-anchored proteins are involved in multiple physiological processes and the initial stage of their biosynthesis is mediated by PIGA, PIGC, PIGH, PIGP, PIGQ, PIGY, and DMP2 genes, which have been linked to a wide spectrum of phenotypes depending on the gene damaged. To date, the PIGP gene has only been related to Developmental and Epileptic Encephalopathy 55 (MIM#617599) in just seven patients. A detailed medical history was performed in two affected siblings with a multiple malformation syndrome.
View Article and Find Full Text PDFIntroduction: Preclinical studies with tofacitinib demonstrated teratogenic effects. Data about effects on human fetuses are limited and current recommendations are to immediately discontinue the treatment. Our purpose is to report a case of exposure to tofacitinib during the first trimester of pregnancy.
View Article and Find Full Text PDFObjectives: To evaluate the obstetric management and neonatal outcomes in twin pregnancies with delayed delivery of the second twin, including follow-up.
Methods: This study is a review of four cases of delayed delivery of the second twin in our hospital from 2009 to 2012. The obstetric management of the cases from the expulsion of the first twin to the delivery of the second twin is analyzed.