Objective: This study aims to assess the diagnostic value of post-mortem radiographic imaging compared with prenatal ultrasound in suspected fetal skeletal dysplasias in a large Finnish cohort.
Method: Prenatal ultrasound findings and their association with post-mortem radiographic imaging were evaluated in a cohort of 36 fetuses with prenatally suspected skeletal dysplasia.
Results: Prenatal ultrasound performed well in detecting skeletal dysplasias and severe forms of the disease. Additional radiographic imaging was performed post-mortem in 16/27 terminated pregnancies. Post-mortem X-ray and 3D-CT detected several features not seen with US. They were superior to US in identifying spinal and thoracic anomalies and performed better in discovering fractures and deformities of long bones. In addition, disease-specific findings became more accurate with X-ray/CT, especially in the group of true skeletal dysplasias (14/18, 77.8%). Post-mortem X-ray and CT increased phenotypic data and facilitated interpretation of genetic findings.
Conclusion: Post-mortem X-ray and CT offer additional information supporting the diagnostic process. Detailed phenotypic data are important in interpreting the results of genetic analyses and in assessing the recurrence risk in future pregnancies. Complementary imaging methods including post-mortem radiography are therefore recommended.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/pd.6732 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Predicting preterm birth using electronic medical records from multiple prenatal visits.
BMC Pregnancy Childbirth
December 2024
Department of Mathematics and Computer Science, Eindhoven University of Technology, Eindhoven, 5612 AZ, North Brabant, The Netherlands.
This study aimed to predict preterm birth in nulliparous women using machine learning and easily accessible variables from prenatal visits. Elastic net regularized logistic regression models were developed and evaluated using 5-fold cross-validation on data from 8,830 women in the Nulliparous Pregnancy Outcomes Study: New Mothers-to-Be (nuMoM2b) dataset at three prenatal visits: - , - , and - weeks of gestational age (GA). The models' performance, assessed using Area Under the Curve (AUC), sensitivity, specificity, and accuracy, consistently improved with the incorporation of data from later prenatal visits.
View Article and Find Full Text PDFPrenatal ultrasound scoring in diagnosis and postpartum outcomes prediction for Placenta Accreta Spectrum (PAS): a systematic review.
BMC Pregnancy Childbirth
December 2024
Department of Obstetrics and Gynecology, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, 610072, China.
Background: Placenta accreta spectrum (PAS) is one of the most dangerous pregnancy-related conditions. This study aims to conduct a systematic review of current research on the ultrasound scoring systems used in PAS patients with a comprehensive summarization of researches and comparison of prenatal ultrasound scoring in evaluating postpartum outcomes.
Methods: This systematic review was conducted and reported following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines.
Placenta location, a prognostic determinant for the incidence of preeclampsia.
BMC Pregnancy Childbirth
December 2024
Department of Radiology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
Background: Preeclampsia is one of the complications of pregnancy with uncertain etiology. Nevertheless, it is believed that the condition may arise due to abnormal trophoblastic invasion, resulting in vascular remodeling and increased resistance in the spiral arteries. It is assumed that the location of the placenta might have contributed to the formation of trophoblastic invasion and further placental supply.
View Article and Find Full Text PDFRole of copy number variation analysis in prenatally diagnosed Blake's pouch cyst.
BMC Pregnancy Childbirth
December 2024
Department of Ultrasound, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Maternal and Child Health Care Hospital, Beijing, 100026, China.
Background: Blake's pouch cyst (BPC) is a midline cystic anomaly of the posterior fossa. BPC has been shown to have a risk of aneuploidy prenatally. Copy number variation (CNV) and/or genetic syndromes have been reported in a few prenatal/postnatal cases with BPC.
View Article and Find Full Text PDFA case of posterior urethral valve diagnosed by ultrasound in antenatal and pathology: A case report.
Medicine (Baltimore)
December 2024
Department of Pathology, Fukuang General Hospital of Liaoning Health Industry Group, Fushun, Liaoning Province, China.
Rationale: Posterior urethral valve is a rare disease, prenatal diagnosis and prognosis evaluation are particularly important.
Patient Concerns: A 25-year-old pregnant woman was found enhanced parenchymal echo in both kidneys, subcapsule urinary cyst formation in both kidneys, bladder enlargement of the fetus during prenatal ultrasonography at 25 W + 4 of gestation. It was accompanied by fetal pericardial effusion and oligohydramnios.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!