Moderate-to-Severe Polyhydramnios: Cutoffs for Deepest Vertical Pocket Corresponding to Amniotic Fluid Index.

OBJECTIVE: Society for Maternal-fetal medicine Consult Series (#46) states "antenatal fetal surveillance is not required for mild idiopathic" polyhydramnios defined as amniotic fluid index (AFI) of 24 cm or a deepest vertical pocket (DVP) between 8 and 11 cm. The objective of this study was to determine the cutoff for DVP which correlates with AFI ≥ 30 cm. METHODS: This retrospective study of singleton third trimester ultrasounds included a study group randomly divided into test and validation. In the test group, DVP cutoffs correlating with AFI ≥ 30 cm which was used to define moderate-severe polyhydramnios were calculated in two ways, rounded to the nearest whole number: 1) a receiver operating curve and Youden's J statistic (DVP-Youden) and 2) calculation of the DVP percentile that corresponded with AFI of 30 cm (DVP-Percentile). Using the validation group, diagnostic characteristics were DVP-Youden and DVP-Percentile for diagnosis of AFI ≥ 30 cm and were compared against SMFM cutoffs (DVP-SMFM). RESULTS: Seventy one thousand eight hundred and ninety three ultrasound exams in the 3rd trimester had assessment of AFI and DVP. Moderate-severe polyhydramnios occurred in 286 (1.2%) in test group and 571 (1.2%) in validation group. AFI of 30 cm corresponded to the 98.9th percentile, which in turn correlated to a DVP of 10 cm (DVP-Percentile). The calculated cutoff for moderate-severe polyhydramnios was 8 cm for DVP-Youden. CONCLUSION: Using 8.0 cm rather than 12.0 cm increased the detection of moderate-severe polyhydramnios to 100% with a false positive rate under 5%. For those utilizing DVP for amniotic fluid evaluation, identification of a DVP ≥ 8.0 cm should prompt further evaluation with complete AFI.

Semiquantitative Assessment of Amniotic Fluid Among Individuals With and Without Diabetes Mellitus.

OBJECTIVE: To compare the rate and severity of abnormal amniotic fluid volumes (oligohydramnios or polyhydramnios), as well as the distribution of amniotic fluid levels, in pregnancies with and without diabetes. METHODS: We performed a retrospective cohort study of singleton nonanomalous pregnancies receiving an ultrasound examination (USE) in the third trimester. Pregnancies were categorized into those with and without diabetes and subcategorized by diabetes type. The primary outcomes were oligohydramnios or polyhydramnios. Polyhydramnios was also examined by severity. The association between maternal diabetes status and oligohydramnios or polyhydramnios was assessed using logistic regression. In addition, we computed gestational age-specific amniotic fluid index (AFI) and deepest vertical pocket (DVP) centiles for pregnancies with and without diabetes. RESULTS: There were 60,226 USEs from 26,651 pregnancies that met inclusion criteria. There were 3992 (15.0%) pregnancies with diabetes and 22,659 (85.0%) without diabetes. Using AFI, the rate of polyhydramnios was 10.5 versus 3.8% (odds ratio [OR] 2.95; 95% confidence interval [CI] 2.62-3.32) for pregnancies with versus without diabetes, respectively; using DVP, the rate of polyhydramnios was 13.9 versus 5.4% (OR 2.84; 95% CI 2.56-3.15). Rates of oligohydramnios were also increased in pregnancies with diabetes (3.3 versus 2.6%; OR 1.26; 95% CI 1.04-1.52). The AFI and DVP were significantly higher in the cohort with diabetes between 28 and 36 weeks. CONCLUSION: Within our study population, pregnancies with diabetes had increased rates of oligohydramnios and polyhydramnios as well as increased gestational age-specific amniotic fluid volumes between 28 and 36 weeks. A higher prevalence of polyhydramnios was observed using DVP as compared to AFI; nevertheless, associations were similar using either method.

Limited Independent Follow-Up with Germline Testing of Variants Detected in BRCA1 and BRCA2 by Tumor-Only Sequencing.

Introduction: Genomic profiling is performed in patients with advanced or metastatic cancer, in order to direct cancer treatment, often sequencing tumor-only, without a matched germline comparator. However, because many of the genes analyzed on tumor profiling overlap with those known to be associated with hereditary cancer predisposition syndromes (HCPS), tumor-only profiling can unknowingly uncover germline pathogenic (P) and likely pathogenic variants (LPV). In this study, we evaluated the number of patients with P/LPVs identified in BRCA1 and BRCA2 (BRCA1/2) via tumor-only profiling, then determined the germline testing outcomes for those patients. Methods: A retrospective chart review was performed to identify patients with BRCA1/2 variants on tumor-only genomic profiling, and whether they had germline testing. Results: This study found that of 2923 patients with 36 tumor types who underwent tumor-only testing, 554 had a variant in BRCA1/2 (19.0%); 119 of the 554 patients (21.5%) had a P/LP BRCA1/2 variant, representing 4.1% of the overall population who underwent genomic profiling. Seventy-three (61.3%) of 119 patients with BRCA1/2 P/LPV on tumor-only testing did not undergo germline testing, 34 (28.6%) had already had germline testing before tumor-only testing, and 12 (10.1%) underwent germline testing after tumor-only testing. Twenty-eight germline BRCA1/2 P/LPVs were detected, 24 in those who had prior germline testing, and 4 among the 12 patients who had germline testing after tumor-only testing. Conclusion: Tumor-only testing is likely to identify P/LPVs in BRCA1/2. Efforts to improve follow-up germline testing is needed to improve identification of germline BRCA1/2 alterations.

Impact of the Access to Genetic Counselor Services Act.

The goal of this Opinion Editorial is to raise public awareness regarding legislation introduced to Congress, known as the Access to Genetic Counselor Services Act, or HR 2144/S1450. Currently, Medicare policy denies beneficiaries direct access to genetic counselors. This bill aims to rectify this though CMS recognition of genetic counselors. This is of particular importance to Delawareans who rely on genetic counseling service in the sub-specialties of cancer, preconception/prenatal, pediatrics, cardiology, and neurology. In this paper, we aim to underscore the importance of this legislation by outlining how genetic counselors impact patient care.