Executive summary The past six decades have seen remarkable improvements in health
outcomes for people with cystic fibrosis, which was once a fatal disease of infants and young …

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 …

Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa - PMC Skip to main
content Here's how you know Official websites use .gov A .gov website belongs to an official …

Importance Screening for carrier status of a limited number of single-gene conditions is the
current standard of prenatal care. Methods have become available allowing rapid expanded …

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

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

Technological and other advances over the past decades have led to the discovery of
thousands of gene–disease associations for autosomal and X-linked recessive Mendelian …

Reproductive genetic carrier screening aims to offer couples information about their chance
of having children with certain autosomal recessive and X-linked genetic conditions. We …

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 …

Two leading European professional societies, the European Society of Human Genetics and
the European Society for Human Reproduction and Embryology, have worked together …