Carrier screening, a well-established clinical initiative, has been slow to take advantage of
the new possibilities offered by high-throughput next generation sequencing technologies …

Genetic counseling for cystic fibrosis (CF) is challenged by intricate molecular mechanisms,
complex phenotypes, and psychosocial needs. CFTR variant interpretation has become …

Purpose To describe our experience of offering simultaneous genetic carrier screening for
cystic fibrosis (CF), fragile X syndrome (FXS), and spinal muscular atrophy (SMA). Methods …

Reproductive genetic carrier screening (RGCS) provides people with information about their
chance of having children with autosomal recessive or X-linked genetic conditions, enabling …

The demand for genetic testing of hereditary breast cancer genes such as BRCA1 and
BRCA2 has continued to increase with the lowering costs of testing, raised awareness in the …

Preconception carrier screening offers couples the possibility to receive information about
the risk of having a child with a recessive disorder. Since 2016, an expanded carrier …

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 …

Background Expanded carrier screening (ECS) is aimed at detecting carrier states for
autosomal recessive (AR) or X‐linked conditions in couples from the general population …

Technological developments have enabled carrier screening for multiple disorders. This
study evaluated experiences with a preconception carrier screening offer for four recessive …

There is currently no consensus on the key outcomes of reproductive genetic carrier
screening (RGCS). This has led to a large amount of variability in approaches to research …