Prenatal Deep Phenotyping in Genetic Syndromes Diagnosed in the First Trimester of Pregnancy
Listen to this summary
The authors aimed to perform deep phenotyping of fetuses diagnosed with genetic syndromes during the first trimester using standardized HPO terminology. Their study of 293 fetuses revealed that chromosomal disorders were predominant, with polymalformed fetuses showing the highest diagnostic yield. The findings underscore the importance of standardized phenotypic descriptions in enhancing the diagnosis of genetic syndromes and highlight specific anomalies, such as ductus venosus agenesis, that may indicate certain conditions like RASopathies.
This is one of 33,000+ journals available on OSLR. Try it free for 14 days.
Free 14-day trial. 33,000+ journals. Cancel anytime.
More from Prenatal diagnosis
View all →Mar 22, 2026 · Prenatal diagnosis
Twin Reversed Arterial Perfusion (TRAP) Sequence: Proposal for Morphologic Classification System Predicting Natural History
Mar 22, 2026 · Prenatal diagnosis
Hypertrophic Cardiomyopathy as a Key Feature of MRAS-Related Noonan Syndrome: New Case and Comprehensive Literature Review
Mar 20, 2026 · Prenatal diagnosis
Disparities in Prenatal Carrier Screening Including Partner Testing by Insurance Status
Mar 19, 2026 · Prenatal diagnosis
First-Trimester Down Syndrome Screening in Renal-Transplanted Pregnant Women: Blood Creatinine Levels Impact False-Positive Rate
Mar 13, 2026 · Prenatal diagnosis
Gene Panel Versus Whole Exome Sequencing for Fetal Anomalies
Mar 10, 2026 · Prenatal diagnosis
Variation in the Genetic Workup of Polyhydramnios: An International and Inter-Specialty Survey
More in Obstetrics & Gynecology
View all →Mar 25, 2026 · The New England journal of medicine
A Placebo-Controlled Trial of the Oral PCSK9 Inhibitor Enlicitide
Mar 25, 2026 · BJOG : an international journal of obstetrics and gynaecology
Effectiveness of Interventions to Improve Women's Experience of Pelvic Examinations: A Systematic Review and Meta-Analysis
Mar 25, 2026 · American journal of obstetrics & gynecology MFM
Factors associated with appropriate administration of magnesium sulfate for neuroprotection prior to early preterm birth
Mar 25, 2026 · Journal of minimally invasive gynecology
Pain severity and Magnetic Resonance Imaging as key factors in the management of accessory cavitated uterine malformation
Mar 25, 2026 · Contraception
Reasons for contraceptive nonuse at two sites in Burkina Faso
Mar 24, 2026 · BJOG : an international journal of obstetrics and gynaecology
Impaired Hearing and Systolic Blood Pressure as Potential Markers of Cerebral Infarction After Eclampsia: A Cross-Sectional Study
"Oslr has become part of my weekly routine on my day off. The clinical relevance of the summaries is outstanding — I'd rate it 9/10. Being able to consume research hands-free is a huge advantage for busy physicians."
Dr. Jennifer Thompson
Portland, OR
Stay current without falling behind
33,000+ journals. 3-minute audio summaries. Free for 14 days.
