No abstract

The aim of carrier screening is to identify prospective parents at risk of having a pregnancy affected with an autosomal recessive or X‐linked disorder. Though minimal guideline‐based screening is available, expanded carrier screening (ECS) is quickly becoming a feasible option for the general population due to its growing availability and affordability. However, the impact of ECS on clients and providers remains relatively unexplored. We performed a systematic evidence review to identify publications describing client‐, provider‐, and test‐related outcomes. We searched several biomedical databases for articles published between January 1, 2003 and May 31, 2021. Studies were eligible for inclusion if they described genetic counseling and/or genetic testing for carrier screening (minimal guideline‐based or ECS) in a prenatal or preconception setting in the United States. Title and abstract screening were performed using the Raayan web application or customized Google Forms. Full‐text review and data extraction of included articles were performed using custom Google Forms. Two researchers performed a multistep selection process independently for validation purposes. Of 5413 unique articles screened, 36 studies were included with several studies contributing to multiple outcomes. Twenty described outcomes relating to patients/clients, 10 described provider‐based outcomes, and 16 described test‐based outcomes. Findings suggest that client and provider perceptions of ECS and minimal guideline‐based carrier screening are multifaceted. Though clients have expressed desire for ECS, clinical uptake and impact on reproductive decision‐making varies. Additionally, though genetic counselors seem to be comfortable with ECS, most other reproductive care providers seem to prefer minimal guideline or ancestry‐based screening due to perceived barriers, such as time needed for ECS results disclosure and follow‐up, as well as the desire to have panels set by professional societies/recommendations. There are limitations within the gathered literature, leading to potential uncertainty in the generalizability of our review. We outline several recommendations for future studies, including the need to examine variant interpretation and use of next‐generation sequencing.

The COVID‐19 pandemic widely disrupted the delivery of healthcare services, including genetic counseling. To ensure continuity of care, the reproductive genetic counselors at a large academic medical center in the United States rapidly transitioned their practice from 90% in‐person patient consultations to a predominantly telehealth model. The present study describes this transition in regard to patient access to genetic counseling and genetic screening. A chart review of patients seen by the reproductive genetic counselors from January 2020 to August 2020 was completed. The time frame included the three months prior to the COVID‐19 pandemic and the first five months during COVID‐19. Patient demographics and clinical and appointment data were compared between the pre‐COVID‐19 and during‐COVID‐19 timeframes. Overall, 88.6% of patients were seen via telehealth during COVID‐19 and there was no significant difference based upon patient age (p = .20), indication for appointment (p = .06), or gestational age (p = .06). However, non‐English speaking patients were more often seen in‐person than by telehealth (p < .001), and more patients residing farther from the clinic were seen via telehealth (p = .004). During‐COVID‐19 results for prenatal cell‐free DNA screening and expanded carrier screening were delayed (p < .001). Additionally, after consenting to screening, patients seen during COVID‐19 were more likely to not complete a sample collection for their intended screening when compared to those seen pre‐COVID‐19 (OR = 6.15, 95% CI = 1.43–26.70, p = .015). Overall, this study supports that access to genetic counseling services and genetic screening can be maintained during a global pandemic like COVID‐19. Genetic counselors are well‐equipped to pivot swiftly during challenging times; however, they must continue to work to address other barriers to accessing genetic services, especially for non‐English speaking populations. Future studies are needed to pose solutions to the obstacles confronted in this service delivery model during a global pandemic.

Adverse neonatal outcomes such as TTN and hypoglycemia are more common when late PTB occurs <2 days after ACS administration. Moreover, late PTB >7 days after ACS administration is associated with an increased risk of TTN, but a decreased risk of hypoglycemia. Understanding the impact of ACS timing on neonatal outcomes is essential in caring for patients at risk for late PTB.

Cystic fibrosis (CF) was historically a disease largely afflicting children. Due to therapeutic advancement, there are now more adults with CF than children. In the past decade, medications became available that treat the underlying cause of CF and are dramatically improving lung function as well as quality and quantity of life for people with CF. As a result, more women with CF are having babies. We gathered a panel of experts in CF care, family planning, high risk obstetrics, nutrition, genetics and women with CF to review current literature on pregnancies and to provide care recommendations for this unique population.