Sonographic Estimated Fetal Weight among Diabetics at ≥ 34 Weeks and Composite Neonatal Morbidity.

Objectives The objective was to assess the composite neonatal morbidity (CNM) among diabetic women with sonographic estimated fetal weight (SEFW) at 10 to 90th versus >90th percentile for gestational age (GA). Study Design The inclusion criteria for this retrospective study were singleton pregnancies at 34 to 41 weeks, complicated by diabetes, and that had SEFW within 4 weeks of delivery. Odds ratios (ORs) with 95% confidence intervals (CI) were calculated. Results Among the 140 cohorts that met the inclusion criteria, 72% had SEFW at 10th to 90th percentile for GA, and 28% at >90th percentile. Compared with women with diabetes with last SEFW at 10th to 90th percentile, those with estimate > 90th percentile for GA had a significantly higher rate of CNM (13 vs. 28%; OR, 2.65; 95% CI, 1.07-6.59). Among 109 diabetic women who labored, the rate of shoulder dystocia was significantly higher with SEFW at >90th percentile for GA than those at 10th to 90th percentile (25 vs. 2%; p = 0.002); the corresponding rate of CNM was 29 versus 10% ( p = 0.02). Conclusion Among diabetic women with SEFW > 90th percentile for GA, CNM was significantly higher than in women with estimate at 10 to 90th percentile. Despite the increased risk of CNM, these newborns did not have long-term morbid sequela.

Subtotal Resection of an Anaplastic Ganglioglioma in Pregnancy.

BACKGROUND: Anaplastic ganglioglioma is a rare malignant brain tumor associated with high morbidity and mortality. The diagnosis of a central nervous system malignancy in the early 3rd trimester presents management challenges to both neurosurgeons and obstetricians. CASE: A 33-year-old woman, gravida 2 para 1, presented at 28 6/7 weeks with four months of worsening headaches, nausea, vomiting, and mental status changes due to a 7.5 cm anaplastic ganglioglioma. Maternal deterioration necessitated subtotal tumor debulking allowing prolongation of the gestation to 34 6/7 weeks. After delivery, the patient underwent further resection, followed by chemotherapy and radiation. Both mother and infant are well. DISCUSSION: This case underscores the importance of timely diagnostic imaging in pregnant women and demonstrates subtotal tumor debulking as a viable means of prolonging gestation.

Congenital Heart Disease and Reproductive Risk: An Overview for Obstetricians, Cardiologists, and Primary Care Providers.

Patients with congenital heart disease have improved survival rates, and most patients are now expected to survive into adulthood. This improved survival has resulted in increasing numbers of women with congenital heart disease who are of childbearing age. This patient population requires specialized advice on contraception and pregnancy risk. Understanding the unique challenges this population presents is key to providing appropriate care.

Identification of genetic susceptibility to childhood cancer through analysis of genes in parallel.

Clinical cancer genetic susceptibility analysis typically proceeds sequentially, beginning with the most likely causative gene. The process is time consuming and the yield is low, particularly for families with unusual patterns of cancer. We determined the results of in parallel mutation analysis of a large cancer-associated gene panel. We performed deletion analysis and sequenced the coding regions of 45 genes (8 oncogenes and 37 tumor suppressor or DNA repair genes) in 48 childhood cancer patients who also (i) were diagnosed with a second malignancy under age 30, (ii) have a sibling diagnosed with cancer under age 30, and/or (iii) have a major congenital anomaly or developmental delay. Deleterious mutations were identified in 6 of 48 (13%) families, 4 of which met the sibling criteria. Mutations were identified in genes previously implicated in both dominant and recessive childhood syndromes, including SMARCB1, PMS2, and TP53. No pathogenic deletions were identified. This approach has provided efficient identification of childhood cancer susceptibility mutations and will have greater utility as additional cancer susceptibility genes are identified. Integrating parallel analysis of large gene panels into clinical testing will speed results and increase diagnostic yield. The failure to detect mutations in 87% of families highlights that a number of childhood cancer susceptibility genes remain to be discovered.