Publications by authors named "Emilia Mateu-Brull"
Objective: To evaluate cell-free DNA (cfDNA) testing as a non-invasive approach to detecting aneuploidies in clinical miscarriages.
Design: A retrospective cohort study of women with pregnancy loss.
Setting: Hospitals and genetic analysis laboratories.
Study Question: Does ART-based conception influence fetal fraction (FF) estimation and cell-free fetal DNA (cffDNA) testing performance?
Summary Answer: Mode of conception (ART versus natural) does not impact FF estimation or cffDNA test informativity rates.
What Is Known Already: Pregnancies achieved via ART are increasing, and cffDNA testing is displacing traditional prenatal screening methods due to its high sensitivity and specificity and noninvasive nature. However, conflicting data exist on cffDNA testing performance and FF in ART pregnancies compared with natural pregnancies.
Background: Since 2011, screening maternal blood for cell-free foetal DNA (cffDNA) fragments has offered a robust clinical tool to classify pregnancy as low or high-risk for Down, Edwards, and Patau syndromes. With recent advances in molecular biology and improvements in data analysis algorithms, the screening's scope of analysis continues to expand. Indeed, screening now encompassess additional conditions, including aneuploidies for sex chromosomes, microdeletions and microduplications, rare autosomal trisomies, and, more recently, segmental deletions and duplications called copy number variations (CNVs).
View Article and Find Full Text PDFBackground: Organ transplantations cause discrepancy in results from cell-free DNA (cfDNA) testing, but scientific literature is scarce.
Case: A 33-year old gravida underwent cfDNA testing, which showed high levels of Y chromosome (ChrY) in the maternal bloodstream. The ChrY pattern was comparable to an adult male reference.
Article Synopsis
- The study looked at how testing for cell-free DNA (cfDNA) can help identify issues in pregnancies where one twin has stopped developing, called vanishing twin (VT) pregnancies.
- They found that in VT pregnancies, there were more cases that showed potential problems compared to regular single pregnancies, especially if the test was done after week 14.
- The researchers suggest that with further research, cfDNA testing could be helpful in these cases to avoid unnecessary procedures and make things less stressful for expecting moms.