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• Mosaicism
• Cell-Free DNA
• Cytogenetics
• +5 more

Diane van Opstal is a Researcher in the Department of Clinical Genetics at Erasmus MC, Erasmus University Rotterdam, specializing in prenatal genetic diagnostics and cytogenetic analysis. Her work bridges clinical practice and genomic research with a focus on improving non-invasive screening methodologies. Her primary research domains include: Mosaicism (particularly confined placental mosaicism) Cell-Free DNA analysis for prenatal screening Cytogenetic techniques including karyotyping and exome sequencing Chromosomal aberrations in fetal development Blastocyst genetics and retrospective cohort studies Recent publications reveal a concentrated effort in optimizing non-invasive prenatal testing (NIPT) protocols, with critical investigations into chorionic villus sampling confirmation for high-risk trisomy cases, mosaic ratio correlations with pregnancy outcomes, and exome sequencing applications for congenital anomalies. Her collaborative studies frequently address diagnostic pitfalls in dystrophinopathies and placental mosaicism, directly impacting clinical guidelines in European prenatal care. Van Opstal actively contributes to high-impact journals including Prenatal Diagnosis and the European Journal of Human Genetics, where her commentaries shape discourse on genetic counseling standards and diagnostic accuracy. Her research consistently emphasizes translational applications, converting genomic findings into actionable clinical protocols for improved patient management in high-risk pregnancies.

Ann Nygaard JensenView profile

Lecturer

• Genetics
• Prenatal Diagnosis
• Obstetrics
• +4 more

Ann Nygaard Jensen serves as a Clinical Instructor and Senior Physician (Overlæge) at Aalborg University Hospital, affiliated with The Faculty of Medicine, Department of Clinical Medicine, and working in the Department of Gynaecology and Obstetrics in Denmark. Her professional address is Selma Lagerløfs Vej 249, Gynækologi-obstetrik, 9260 Gistrup. Dr. Jensen's research focuses on the intersection of genetics and obstetrics, with particular expertise in prenatal diagnosis, fetal anomalies, and non-invasive prenatal testing. Her work spans critical areas including chromosomal abnormalities, congenital heart defects in twin pregnancies, orofacial clefts, and the implementation of genetic screening technologies in clinical practice. The fingerprint analysis of her work shows 100% connection to Genetics, 86% to Childbirth, and 86% to Prevalence studies, reflecting her research concentration. Her recent publications demonstrate a strong focus on large-scale clinical studies in the Danish population, examining prevalence rates, detection methods, and the clinical implementation of prenatal genetic testing. Jensen has contributed significantly to understanding how genetic screening technologies are integrated into both public and private healthcare systems, with her 2021 paper on national data receiving 15 Scopus citations. Genetics (100% fingerprint match) Childbirth research (86% fingerprint match) Nationwide prenatal studies Twin pregnancy complications Dr. Jensen has received attention for her research, with multiple publications garnering citations and reader engagement across academic platforms. Her collaborative network includes prominent Danish researchers in obstetrics and genetics, indicating her integration within the national academic medical community.