Publications by authors named "Millie Ferres"
Article Synopsis
- Nicolaides-Baraitser syndrome (NCBRS) is a rare genetic condition leading to severe intellectual disabilities and other physical symptoms, diagnosed through clinical signs and the presence of a SMARCA2 mutation.
- The case presented involves a prenatal diagnosis of caudal regression and congenital vertical talus, ultimately linked to a de novo SMARCA2 variant after the pregnancy was terminated.
- This study suggests that these specific physical traits should be recognized as part of the spectrum associated with NCBRS when linked to the SMARCA2 pathogenic variant.
Background: The Ts1Cje model of Down syndrome is of particular interest for perinatal studies because affected males are fertile. This permits affected pups to be carried in wild-type females, which is similar to human pregnancies. Here we describe the early natural history and growth profiles of Ts1Cje embryos and neonates and determine if heart defects are present in this strain.
View Article and Find Full Text PDFHuman fetuses with Down syndrome demonstrate abnormal brain growth and reduced neurogenesis. Despite the prenatal onset of the phenotype, most therapeutic trials have been conducted in adults. Here, we present evidence for fetal brain molecular and neonatal behavioral alterations in the Ts1Cje mouse model of Down syndrome.
View Article and Find Full Text PDFBackground: Nearly two decades ago, the discovery of circulating cell-free fetal DNA in maternal blood created a paradigm shift in prenatal testing. Recent advances in DNA sequencing technology have facilitated the rapid translation of DNA-based testing into clinical antenatal care.
Content: In this review, we summarize the technical approaches and current clinical applications of noninvasive testing using cell-free DNA in maternal plasma.
We employed accepted, validated symptom-based screening measures to discern attributable risk of obstructive sleep apnea (OSA) to adverse pregnancy outcomes, taking into account potential maternal confounders. Commonly employed OSA screening measures (Berlin and Epworth scales) were performed in the second and third trimesters; maternal and neonatal outcome data were thereafter obtained. The relationship between OSA and outcomes of interest were explored in stratified and multivariate models controlling for potential confounders.
View Article and Find Full Text PDFObjective: To estimate the rate of wound complications associated with protocol-driven postcesarean enoxaparin thromboprophylaxis.
Methods: After implementing an Institutional Clinical Practice Guideline for postoperative cesarean delivery thromboprophylaxis among at-risk gravid women (older than 35 years of age, body mass index greater than 30 kg/m2, or both), data on all cesarean deliveries over the first 23 months of guideline implementation were extracted and analyzed. Primary (wound hematoma, separation, or dehiscence) and secondary (venous thromboembolism) outcomes were compared in stratified and multivariable models controlling for potential confounders.