Carrier screening allows individuals to learn their chance of passing on an autosomal or X-
linked condition to their offspring. Initially introduced as single-disease, ancestry-based …

Genomic technologies are now being applied to reproductive genetic screening. Circulating
cell-free DNA testing in pregnancy for fetal chromosomal abnormalities is becoming more …

Expanded carrier screening (ECS) intends to broadly screen healthy individuals to
determine their reproductive chance for autosomal recessive (AR) and X‐linked (XL) …

Actionability is an important concept in medicine that does not have a well-accepted
standard definition, nor is there a general consensus on how to establish it. Medical …

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 …

ABSTRACT Purpose The American College of Medical Genetics and Genomics supports
parents' opting in or out of secondary analysis of 59 genes when their child has clinical …

Objective To describe uptake of carrier screening by male reproductive partners of prenatal
and preconception patients. Methods A retrospective database review of all prenatal and …

Expanded carrier screening (ECS) is a relatively new carrier screening option that assesses
many conditions simultaneously, as opposed to traditional ethnicity-based carrier screening …

Objective To examine factors that influence uptake of expanded carrier screening (ECS)
among women undergoing preconception and prenatal genetic counseling. Methods We …

Purpose When undergoing expanded carrier screening (ECS), couples are often screened
sequentially to reduce need for a second individual's test. It is unknown how often partners …