Joint analysis of germline genetic data from over 29,000 cases with suspected hereditary breast and ovarian cancer (HBOC) as part of the NASGE initiative.

As multigene panel testing is becoming routine in clinical care, there are recommendations at national and international level, as to which genes should be analyzed in the context of a hereditary breast and ovarian cancer (HBOC). However, the individual composition of gene panels offered by testing laboratories vary, resulting in a different variant diagnostic rate. Therefore, we performed a retrospective NGS dataset analysis of suspected HBOC patients who had been tested at different German diagnostic laboratories that are part of the NASGE network.

LZTR1 loss-of-function variants associated with café au lait macules with or without freckling.

Pathogenic variants in the leucine zipper-like transcriptional regulator 1 gene () have been identified in schwannomatosis and Noonan syndrome. Here, we expand the phenotype spectrum of variants. We identified four loss-of-function heterozygous variants in five children with multiple café au lait macules and one adult with multiple café au lait macules and axillar freckling, by applying gene panel analysis in four families.

The Role of Social Determinants in Diagnosis Timing for Fetal Care Center-Eligible Conditions: A Scoping Review.

Timely identification of fetal conditions enables comprehensive evaluation, counseling, postnatal planning, and prenatal treatments. This study assessed the existing evidence on how social determinants of health (SDOH) influence diagnosis timing of fetal conditions appropriate for care in fetal care centers (FCCs). Eligible studies were conducted in the U.

Prospective evaluation of NGS-based sequencing in epilepsy patients: results of seven NASGE-associated diagnostic laboratories.

Background: Epilepsy is one of the most common and disabling neurological disorders. It is highly prevalent in children with neurodevelopmental delay and syndromic diseases. However, epilepsy can also be the only disease-determining symptom.

Fetal Care Nursing-The Birth of a Specialty.

With the rapid growth of specialized fetal care centers (FCCs) across the United States, a new area of nursing practice has emerged. Fetal care nurses provide care in FCCs to pregnant persons experiencing complex fetal conditions. This article describes the unique practice of fetal care nurses necessitated by the complexity of perinatal care and the provision of maternal-fetal surgery in FCCs.