Ultrasound in Obstetrics & Gynecology (UOG) is the official monthly journal of the International Society of Ultrasound in Obstetrics and Gynecology (ISUOG). As we wrap up the year, we share the top 10 cited UOG articles published in print in 2024.
1. Incremental yield of whole-genome sequencing over chromosomal microarray analysis and exome sequencing for congenital anomalies in prenatal period and infancy: systematic review and meta-analysis
This systematic review by Shreeve et al. published in the January issue suggests that, at present, there is no evidence of a significant increase in incremental yield using whole-genome sequencing compared with the sequential approach of chromosomal microarray analysis and exome sequencing when investigating congenital malformations in the perinatal period or during infancy.
2. ISUOG Practice Guidelines: performance of third-trimester obstetric ultrasound scan
ISUOG Practice Guideline by Khalil et al. published in January outline recommendations for conducting third-trimester ultrasound examination, including determination of placental location and fetal presentation, measurement of fetal biometry, identification of fetal anomalies, evaluation of amniotic fluid volume and documentation of fetal and uterine artery Doppler findings.
3. Placental lakes vs lacunae: spot the differences
In the February issue, the State-of-the-Art Review by Jauniaux et al. illustrates, with an array of images, the ultrasound features and etiopathology of placental lakes and lacunae to further the understanding of the development of these lesions in different placenta-related pregnancy complications and facilitating their differential diagnosis on ultrasound.
4. Risk of major congenital heart disease in pregestational maternal diabetes is modified by hemoglobin A1c
In their study published in the March issue, He et al. created a risk calculator for major congenital heart disease in cases of pregestational maternal diabetes, based on first-trimester hemoglobin A1c and covariates, allowing the potential avoidance of many unnecessary low-yield fetal echocardiograms or tertiary-level ultrasound examinations
5. Validation of machine-learning model for first-trimester prediction of pre-eclampsia using cohort from PREVAL study
In the January issue, Gil et al. presented their validation of a machine-learning model for first-trimester prediction of pre-eclampsia (PE) based on a neural network, showing that the model provides effective screening for PE that can be applied in different populations.
6. Diagnostic accuracy of prenatal ultrasound in coarctation of aorta: systematic review and individual participant data meta-analysis
Published in the April issue, Villalaín et al. reported in their systematic review that several known prenatal ultrasound parameters show an association with increased risk of a postnatal diagnosis of coarctation of the aorta; however, diagnostic accuracy of prenatal ultrasound was only moderate, even when combinations of parameters were considered.
7. Prenatal diagnosis and postnatal outcome of Type-III vasa previa: systematic review of literature
The systematic review by Pozzoni et al. in the January issue demonstrated that prenatal detection of Type-III vasa previa (VP) minimizes the risk of adverse fetal outcome by enabling late preterm or early term Cesarean delivery, and the absence of placental/cord abnormalities and risk factors, such as medically assisted conception, does not rule out Type-III VP.
8. Diagnostic yield of exome sequencing in prenatal agenesis of corpus callosum: systematic review and meta-analysis
In the March issue, Mustafa et al., in their systematic review on agenesis of the corpus callosum, identified over 100 associated pathogenic/likely pathogenic variants of in over 80 genes, with the highest diagnostic yield of exome sequencing following negative chromosomal microarray in cases with an additional extracranial (55%) or cranial (43%) anomaly. Their findings underscore the importance of reducing diagnostic turnaround time to reap the benefits of exome sequencing in routine clinical practice.
9. Whole-genome sequencing in prenatally detected congenital malformations: prospective cohort study in clinical setting
Published in the May issue, this prospective study by Westenius et al. showed that whole-genome sequencing is a valuable tool in the evaluation of prenatally detected congenital malformations, demonstrating a diagnostic yield of 26% in cases prescreened for chromosomal aberrations.
10. Midline structures and cortical development in late-onset fetal growth restriction according to Doppler status: prospective study
Mappa et al. showed in the August issue that compared with appropriate- and small-for-gestational-age fetuses, those with late-onset fetal growth restriction exhibit smaller measurements of the corpus callosum, cerebellar vermis and cortical fissures on neurosonography, supporting the existence of a link between brain development and impaired placental function.