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Objective To evaluate the accuracy of antenatal diagnosis of congenital heart disease (CHD) using screening methods including a combination of elevated hemoglobin A1c, detailed anatomy ultrasound, and fetal echocardiography. Study Design This is a retrospective cohort study of all pregnancies complicated by pregestational diabetes from January 2012 to December 2016. The sensitivity, specificity, positive predictive value, and negative predictive value were calculated for each screening regimen. The incremental cost-effectiveness ratio (ICER) was calculated for each regimen with effectiveness defined as additional CHD diagnosed. Results A total of 378 patients met inclusion criteria with an overall prevalence of CHD of 4.0% (n = 15). When compared with a detailed ultrasound, fetal echocardiography had a higher sensitivity (73.3 vs. 40.0%). However, all cases of major CHD were detected by detailed ultrasound (n = 6). Using an elevated early A1c > 7.7% and a detailed ultrasound resulted in a sensitivity and specificity of 60.0 and 99.4%, respectively. The use of selective fetal echocardiography for an A1c > 7.7% or abnormal detailed anatomy ultrasound would result in a 63.3% reduction in cost per each additional minor CHD diagnosed (ICER: $18,290.52 vs. $28,875.67). Conclusion Fetal echocardiography appears to have limited diagnostic value in women with pregestational diabetes. However, these results may not be generalizable outside of a high-volume academic setting.

A method for the analysis of free and total myo-inositol in foods, feeds, and infant formulas has been developed and validated using high-performance anion exchange chromatography with pulsed amperometric detection. The option of a free myo-inositol determination or a complete total myo-inositol determination from main bound sources can be achieved. These sources include phytates, lower phosphorylated forms, and phosphatidylinositol. This approach gives the option for subtraction of myo-inositol from nonbioavailable sources when it is quantified using other methods if a total bioavailable myo-inositol result is desired for nutritional labeling of a product. The free analysis was validated in a milk-based infant formula, giving RSDR of 2.29% and RSDr of 2.06%. A mean recovery of 97.9% was achieved from various spike levels of myo-inositol. Certified National Institute of Standards and Technology reference material verified the method's compatibility and specificity. Two different total analyses were validated in a soy-based infant formula and compared. One technique involved using a conventional acid hydrolysis with autoclave incubation for 6 h, while the other used a novel technique of microwave-assisted acid hydrolysis with enzymatic treatment that can minimize extraction to 1 day. The autoclave analysis had RSDR of 2.08% and RSDr of 1.55%, along with a mean spike recovery of 102.1% at various myo-inositol spike levels. The microwave/enzyme total analysis had RSDR of 4.34% and RSDr of 4.70%, along with a mean spike recovery of 104.2% at various spike levels of myo-inositol. Main sources of myo-inositol including phytic acid and phosphatidylinositol were tested with both total analyses. Mean recoveries of phytic acid and phosphatidylinositol through the autoclave total analysis were 90.4 and 98.3%, respectively. Mean spike recoveries for these same sources in soy-based infant formula through the microwave/enzyme total analysis were 97.2 and 96.3%, respectively. Comparison of soy-based infant formula and corn grain samples with high levels of these main sources showed in similar results, indicating both total analyses are acceptable for use. An additional glycerol kinase step was also developed to remove glycerol from the chromatographic elution window of myo-inositol in samples with high levels of glycerol.

To determine the influence of maternal body mass index (BMI) and gestational age on the accuracy of image acquisition, first trimester fetal gender determination, and correct assignment.Women presenting for first trimester aneuploidy risk assessment at 11(0) to 13(6) weeks were prospectively enrolled. A mid-sagittal view of the fetus including the genital tubercle was obtained. The angle of the genital tubercle was measured with male assigned for angle30°, female10°, and indeterminate if 10-30°. This was compared with gender at birth. The influence of maternal and pregnancy characteristics on both image acquisition and correct gender assignment were evaluated.A total of 256 women with 260 fetuses undergoing first trimester risk assessment were enrolled. The genital tubercle was identified in 247/260 (95%) of cases. Image acquisition was negatively influenced by increasing maternal BMI and early gestational age (34.8 ± 7.7 vs. 27.0 ± 6.1 kg/m(2), p0.0001 and 12.3 ± 0.5 vs. 12.6 ± 0.5 weeks, p = 0.02). Gender was assigned in 93.1% and correctly matched in 85.8% of fetuses. Positive predictive value (PPV) for male and female fetuses were 88.9% and 79.8%, respectively. Correct gender assignment was more likely in male compared with female fetuses (91.4 vs. 80.5%, p = 0.02).Increasing maternal BMI negatively influences image acquisition during the first trimester for gender determination, but does not decrease the accuracy of correct gender assignment if the image is obtained.

We seek to determine whether (1) mean abdominal circumference (AC) of fetuses with gastroschisis is smaller than published normative values, (2) diagnosis of AC ≤ 2.5th percentile is supported by postnatal diagnosis of small-for-gestational age (SGA) and (3) adverse neonatal outcomes are more common in fetuses affected by gastroschisis with a sonographically measured small AC.Retrospective review of pregnancies complicated with gastroschisis between 2000 and 2008. Patient demographics, method of closure, length of stay, use of ventilator support and gastrointestinal complications were compared.Seventy-four fetuses were identified with 368 ultrasound observations. Mean AC of fetuses with gastroschisis fell between the 2.5th and 50th percentile for gestational age. Thirty patients had AC measurements ≤ 2.5th of which 50% were SGA at delivery. Eleven of the 74 fetuses were diagnosed with intrauterine growth restriction (IUGR) and all were SGA. Birth weight was lower in those with a small AC (2104 g vs. 2665 g, p0.001). There were no other differences in outcomes.AC values fell within the normal range of normative curves. Fifty percent of fetuses with small AC were SGA at birth. Neonatal outcomes in patients with small AC are similar to those with a normal AC.

Sonographic measurement of fetal humeral soft tissue thickness (STT) was performed in 93 women with gestational diabetes mellitus during the third trimester. STT measurements revealed accelerated growth in large for gestational age infants at 31 wk gestation. This new measurement proved to be the most accurate predictor of excessive fetal size compared with other standard ultrasound parameters (sensitivity 82%, specificity 95%, positive predictive value 90%). Asymmetrical growth was more evident in infants with large STT measurements in utero. Humeral STT measurement may distinguish large fetuses with truncal obesity from those that are symmetrically large, thereby allowing prediction of risk for birth trauma before delivery.

Transvaginal ultrasound has proven to be an excellent diagnostic tool for evaluation of the endometrial lining of the uterus. This case report describes a focal echogenic foci visualized within the endometrial lining that was shown by pathologic examination to be immature calcified chorionic villi.