Publications by authors named "Brighton Goodhue"

Purpose Of Review: Despite the availability of Rh(D) immune globulin (RhIg) to prevent alloimmunization in Rh(D)-negative pregnant patients, anti-Rh(D) alloimmunization remains a prevalent cause of hemolytic disease of the fetus and newborn (HDFN). Recent RhIg shortages have caused clinicians and professional societies to identify methods to prioritize RhIg administration. New cell-free DNA (cfDNA) tests to predict fetal red blood cell antigen genotypes have been proposed as an option to prioritize the administration of RhIg to Rh(D)-negative pregnant people.

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Importance: In pregnancy, cell-free DNA (cfDNA) represents short fragments of placental DNA released into the maternal blood stream through natural cell death. Noninvasive prenatal screening with cfDNA is commonly used in pregnancy to screen for common aneuploidies. This technology continues to evolve, and laboratories now offer cfDNA screening for single-gene disorders.

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Article Synopsis
  • The condition was linked to severe complications, leading to intrauterine fetal demise (IUFD) in both the current and a subsequent male pregnancy, where NIHF also occurred.
  • This case highlights the variability of IPEX syndrome's severity and proposes that the newly identified genetic variant could explain the severe outcomes observed in this family’s pregnancies.
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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.

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