Congenital heart disease (CHD) occurs in 4-13 per 1000 births in the United States. While many risk factors for CHD have been identified, more than 90% of cases occur in low-risk patients. Guidelines for fetal cardiac screening during the second trimester anatomy ultrasound have been developed by the International Society of Ultrasound in Obstetrics and Gynecology (ISUOG) in order to improve antenatal detection rates and to standardize the fetal cardiac screening examination. Patients found to be at increased risk of CHD because of risk factors or an abnormal screening examination should be referred for second trimester fetal echocardiography. Recently, 3D and 4D ultrasound techniques are being utilized to enhance detection rates and to better characterize cardiac lesions, and several first trimester ultrasound screening markers have been proposed to identify patients at increased risk of CHD. However, detection rates have not improved significantly due to limitations such as cost, access, and training that are associated with new technologies and screening methods. The most cost effective way to improve detection rates of CHD may be to standardize screening protocols across practices according to established guidelines and to have a low threshold for referral for fetal echocardiography.

No abstract

No abstract

A fetus with trisomy 8 mosaicism was identified prenatally due to an abnormal maternal serum triple screen. Tissue samples were taken at birth to determine the level of trisomy 8 mosaicism found within embryonic and extra-embryonic tissues, rates of cell division for the two cell lines, and the effect of mosaicism on the phenotype. The level of trisomy 8 cells in blood and fibroblasts was higher than in placental tissue. Cell cycle kinetics, by incorporation of bromodeoxyuridine for 48 hr, was not significantly different between the trisomy 8 and normal cells for blood or amnion. Fluorescent in situ hybridization (FISH) using centromeric probe for chromosome 8 showed significantly more trisomy 8 in interphase vs. metaphase in lymphoblasts, umbilical cord fibroblasts, and chorion. The loss of trisomy 8 cells is not due to anaphase lag, as determined by micronuclei analysis. The similarity of cell cycle kinetics between trisomy 8 cells and normal diploid cells suggests some trisomy 8 cells are exiting the cell cycle prematurely. This growth disadvantage of trisomy 8 cells results in the appearance of growth advantage for diploid cells.

In this study, we evaluate the clinical utility of fetal short-lag spatial coherence (SLSC) imaging. Previous work has documented significant improvements in image quality with fetal SLSC imaging as quantified by measurements of contrast and contrast-to-noise ratio (CNR). The objective of this study was to examine whether this improved technical efficacy is indicative of the clinical utility of SLSC imaging. Eighteen healthy volunteers in their first and second trimesters of pregnancy were scanned using a modified Siemens SC2000 clinical scanner. Raw channel data were acquired for routinely examined fetal organs and used to generate fully matched raw and post-processed harmonic B-mode and SLSC image sequences, which were subsequently optimized for dynamic range and other imaging parameters by a blinded sonographer. Optimized videos were reviewed in matched B-mode and SLSC pairs by three blinded clinicians who scored each video based on overall quality, target conspicuity and border definition. SLSC imaging was highly favored over conventional imaging with SLSC scoring equal to (28.2 ± 10.5%) or higher than (63.9 ± 12.9%) B-mode for video pairs across all examined structures and processing conditions. Multivariate modeling revealed that SLSC imaging is a significant predictor of improved image quality with p ≤ 0.002. Expert-user scores for image quality support the application of SLSC in fetal ultrasound imaging.

Three-dimensional reformations improve visualization of the uterine fundus and aid in identification or exclusion of a fundal contour abnormality but do not add value in the detection of endometrial abnormalities.

Fetal central nervous system (CNS) abnormalities are second only to cardiac malformations in their frequency of occurrence. Early and accurate diagnosis at prenatal US is therefore essential, allowing improved prenatal counseling and facilitating appropriate referral. Thorough knowledge of normal intracranial anatomy and adoption of a logical sonographic approach can improve depiction of abnormal findings, leading to a more accurate differential diagnosis earlier in pregnancy. Four standard recommended viewstransventricular, falx, cavum, and posterior fossa or transcerebellar views-provide an overview of fetal intracranial anatomy during the second trimester anatomy scan. Essential elements surveyed in the head and neck include the lateral cerebral ventricles, choroid plexus, midline falx, cavum septi pellucidi, cerebellum, cisterna magna, upper lip, and nuchal fold. CNS abnormalities can be organized into six main categories at prenatal US. Developmental anomalies include neural tube defects and neuronal migration disorders. Posterior fossa disorders include Dandy-Walker malformation variants and Chiari II malformation. Ventricular anomalies include aqueductal stenosis. Midline disorders include those on the spectrum of holoprosencephaly, agenesis of the corpus callosum, and septo-optic dysplasia. Vascular anomalies include vein of Galen malformations. Miscellaneous disorders include hydranencephaly, porencephaly, tumors, and intracranial hemorrhage. Correlation with postnatal MRI is helpful for confirmation and clarification of suspected diagnoses after birth. The authors discuss a standard US imaging approach to the fetal CNS and review cases in all categories of CNS malformations, providing postnatal MRI correlation when available. © RSNA, 2020 • radiographics.rsna.org

Importance Diabetes affects 6% to 9% of pregnancies, with gestational diabetes mellitus accounting for more than 90% of cases. Pregestational and gestational diabetes are associated with significant maternal and fetal risks; therefore, screening and treatment during pregnancy are recommended. Recommendations regarding the preferred treatment of diabetes in pregnancy have recently changed, with slight differences between American College of Obstetricians and Gynecologists (ACOG) and the Society for Maternal-Fetal Medicine (SMFM) recommendations. Objective Our review discusses the diagnosis, management, and treatment of pregestational and gestational diabetes with the oral hypoglycemic agents metformin and glyburide as well as insulin. We also review the evidence for the safety and efficacy of these medications in pregnancy. Evidence Acquisition Articles were obtained from PubMed, the ACOG Practice Bulletin on Gestational Diabetes Mellitus, and the SMFM statement on the pharmacological treatment of gestational diabetes. Results Insulin does not cross the placenta and has an established safety profile in pregnancy and is therefore considered a first-line treatment for gestational diabetes. Metformin and glyburide have also been shown to be relatively safe in pregnancy but with more limited long-term data. Regarding maternal and fetal outcomes, metformin is superior to glyburide and similar to insulin. Conclusions and Relevance Insulin is the preferred pharmacologic treatment according to ACOG. However, SMFM has stated that outcomes with metformin are similar, and it may also be considered as first-line therapy. Both agree that the available data show that metformin is safer and superior to glyburide, and glyburide is no longer recommended as a first-line therapy for the treatment of gestational diabetes. Target Audience Obstetricians and gynecologists, family physicians. Learning Objectives After completing this activity, the learner should be better able to compare the maternal/fetal risks associated with glyburide, metformin, and insulin therapy; describe how to initiate insulin therapy (dosing and type of insulin) in patients who fail initial management; and explain the intrapartum and postpartum treatment of preexisting and gestational diabetes.