Evaluating pregnancy termination rates for fetal chromosome and single gene disorders.

We report pregnancy termination rates following a variety of fetal diagnoses and determine which factors may influence this decision. We conducted a retrospective chart review of pregnancies diagnosed with a genetic abnormality at a single institution from January 2012 to April 2023. The type of diagnosis, termination status, and thirteen demographic factors were collected.

Uptake rate of carrier screening among consanguineous couples.

Objective: To quantify the uptake rates of Carrier Screening (CS) in consanguineous couples and compare this rate to that of non-consanguineous couples.

Methods: We performed a matched case control study of 82 consanguineous couples seen at Rutgers-Robert Wood Johnson Medical school who were offered carrier screening between January 1, 2012 and October 10, 2022. We then matched each consanguineous female patient to a non-consanguineous female control patient who was also offered CS at the time of their genetic counseling appointment.

The potential impact of implementation of expanded carrier screening on pediatric patient diagnoses: A retrospective chart review of patients who receive care in an outpatient genetics clinic in the northeast.

The use of expanded carrier screening (ECS) to assess reproductive risk for autosomal recessive (AR) or X-linked recessive (XLR) conditions has been increasingly integrated into obstetrical care. The aim of this study was to determine what proportion of pediatric patients seen by a medical genetics practice could have had their diagnosis predicted if the parent(s) had undergone currently available ECS at the time of data collection in 2021. A retrospective chart review of patients seen for a medical genetic evaluation at a large academic institution was performed from June 1, 2017, through June 1, 2020.

Rate of manifesting carriers and other unexpected findings on carrier screening.

Objectives: To ascertain the rate of unexpected findings on carrier screening (CS) and assess whether implications are disclosed to patients.

Methods: We performed a retrospective observational study of subjects who had CS after pre-test counseling from a licensed genetic counselor at a large tertiary care center. We quantified the rate of unexpected finding on CS, defined as manifesting carriers (MCs), genotypes predicting phenotype, and chromosome abnormalities.

Trends in coverage and reimbursement for reproductive genetic counseling in New Jersey by multiple payers from 2010 to 2018.

Lack of consistent insurance coverage for genetic counseling services billed under Current Procedural Terminology (CPT) code 96040 creates a barrier for access to this service. This retrospective study examined coverage and reimbursement for reproductive genetic counseling encounters billed under CPT code 96040 as a professional fee over an eight-year period at Rutgers Robert Wood Johnson Medical School, a regional perinatal center in New Jersey, a state requiring licensure. Descriptive statistics were tabulated to assess the disparity between Medicare/Medicaid, Managed Care Medicaid, and commercial insurance payers, including how often encounters were covered and if reimbursed, at what percentage of the amount billed.