Barriers to completion of expanded carrier screening in an inner city population.

PURPOSE: The American College of Medical Genetics and Genomics emphasizes a "consistent and equitable approach for offering carrier screening." At our academic center, publicly insured prenatal patients underwent universal expanded carrier screening (ECS) to promote equitable care. The aim of the study was to evaluate rates, time, and barriers to complete ECS. This was defined as post-test counseling and partner testing after a patient was found heterozygous for a pathogenic variant. METHODS: In this descriptive retrospective cohort study from 2018 to 2021, patients were offered ECS, consisting of 283 recessive and X-linked genes. Heterozygotes were contacted by genetic counselors (≤5 attempts) for education and partner testing. Rates of counseling, partner testing, diagnostic procedures, follow-up times, and barriers to completion were assessed. RESULTS: During this time, 643 women underwent ECS. Of these 643 women, 462 were heterozygotes and 326 of 462 had undergone counseling. Two hundred twenty-two of 462 partners obtained testing, with a median of 32 days from patient to partner result. Approximately 21 couples were heterozygous for the same pathogenic variant. One patient pursued diagnostic testing. CONCLUSION: ECS offers useful information; however, this study highlights significant barriers to completion. There was suboptimal patient follow-up and low partner screening, perhaps from insufficient time to educate and counsel. Future directions include implementing quality measures to ensure optimal completion.

Comparison of an Intermittently Scanned (Flash) Continuous Glucose Monitoring System to Standard Self-Monitoring of Capillary Blood Glucose in Gestational Diabetes Mellitus.

OBJECTIVE: Gestational diabetes mellitus (GDM) requires close surveillance of blood glucose to prevent perinatal morbidity. Self-monitoring of capillary blood glucose (BGM) comes with considerable psychosocial burden. Intermittently scanned continuous glucose monitor (isCGM) devices are discreet and could considerably impact the lifestyle of the patient. They are designed to replace BGM testing in nonpregnant patients. Data on this technology in pregnancy are scant. The aim of this study was to assess concordance of BGM with isCGM in GDM. STUDY DESIGN: Institutional review board approved prospective single-arm study evaluating agreement of isCGM (Freestyle Libre 14-day system) compared with BGM when determining glucose levels fasting and 2-hour postprandial for 14 days. This was documented as percentage of results within Zone A (clinically accurate measurements with no effect on clinical action) or Zone B (values that deviate from reference by >20% but would lead to benign/no treatment) of the Parkes Error Grid (developed for nonpregnant patients with diabetes). Per International Organization for Standardization criteria, agreement was defined as >95% within Zone A or B. Analytical agreement was evaluated using mean and median absolute relative difference (ARD), mean and median absolute difference (AD). RESULTS: There were 1,604 pairs of BGM/isCGM observations for 41 patients. Mean glucose values were 102.0 (standard deviation [SD] = 20.5) and 89.4 (SD = 20.1) mg/dL for BGM and isCGM, respectively. Mean and median AD were 15.9 and 13.0 mg/dL, respectively. Mean and median ARD were 15.9 and 12.5%, respectively. Zones A and B contained 76.9 and 22.9% of values, respectively, in the Parkes Error Grid, for a total of 99.8%. CONCLUSION: BGM and isCGM demonstrate clinical agreement. However, glucose values with isCGM trended lower, with greater mean and median ARD than prior studies. Given the strict glycemic control required during pregnancy, physicians should be aware of these differences and their possible clinical implications. KEY POINTS: · Gestational diabetes mellitus requires close surveillance of blood glucose.. · isCGM is painless and discreet; however, values trend lower than capilary blood glucose.. · Physicians should be aware of these differences and possible clinical implications..

Resolved but Not Forgotten: The Effect of Resolved Placenta Previa on Labor Management.

OBJECTIVES: Placenta previa is diagnosed in up to 15% of pregnancies at the anatomy ultrasound and 0.5% persist to term. There is limited data regarding pregnancy outcomes with resolved previa. We aimed to examine patients with resolved placenta previa to determine if abnormal placentation at any time during pregnancy is associated with adverse events during labor. STUDY DESIGN: Patients with placenta previa were identified after second trimester ultrasound, included if placenta previa resolved with the placental edge greater than 2 cm from the internal cervical os, and excluded if placenta previa persisted to term, resolution occurred prior to 20 weeks, patients underwent a prior cesarean delivery, or delivered at an outside institution. Time-matched controls were identified among patients with normal placental location. Demographic data and outcomes were collected. Student's t-test, Wilcoxon's rank-sum test, Chi-square, Fisher's exact test, and univariable and multivariable logistic regression were used as appropriate RESULTS: Overall, 560 patients had placenta previa, 275 had resolved placenta previa, 285 were excluded. Resolved placenta previa patients were significantly older with lower prepregnancy body mass index (BMI), were significantly more likely to be a current smoker, have used assisted reproductive technology, and have had previous uterine surgeries. Overall, 10.2% of patients with resolved placenta previa experienced postpartum hemorrhage, compared with 2.1% in the normal placentation group. Patients with resolved placenta previa were 5.2 times more likely to have a postpartum hemorrhage (odds ratio [OR] = 5.2, 95% confidence interval [CI]: 2.1-12.7; p < 0.01) and 3.4 times more likely to require extra uterotonic medications (OR = 3.4, 95% CI: 1.9-6.2; p < 0.01). There is no difference with regard to rates of operative delivery for fetal distress (OR = 1.2, 95% CI: 0.7-1.9; p = 0.48), or category-II or-III fetal heart tracing around the time of delivery. CONCLUSION: Patients with resolved placenta previa had a higher rate of postpartum hemorrhage and use of uterotonic agents. This information might have important clinical implications and could be incorporated into the hemorrhage risk assessment during labor. KEY POINTS: · This study aimed to determine if patients with resolved placenta previa had an increased risk of expedited delivery due to fetal distress during labor.. · Patients age with resolved placenta previa have similar risk factors to those with persistent placenta previa, including older maternal, lower prepregnancy BMI, current smoking status, use of assisted reproductive technology (ART) and history of previous uterine surgeries. They were not at increased risk for operative vaginal delivery or cesarean section due to fetal distress. They did require increased uterotonic use and were at an increased risk for postpartum hemorrhage. · Patients with resolved placenta previa should undergo hemorrhage precautions at the time of admission..