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 …

The ability of chromosome microarray analysis (CMA) to detect submicroscopic genetic
abnormalities has revolutionized the clinical diagnostic approach to individuals with …

Phenylalanine hydroxylase deficiency, traditionally known as phenylketonuria, results in the
accumulation of phenylalanine in the blood of affected individuals and was the first inborn …

This document of the European Society of Human Genetics contains recommendations
regarding responsible implementation of expanded carrier screening. Carrier screening is …

Of 7028 disorders with suspected Mendelian inheritance, 1139 are recessive and have an
established molecular basis. Although individually uncommon, Mendelian diseases …

Purpose: Recent developments in genomics have led to expanded carrier screening panels
capable of assessing hundreds of causal mutations for genetic disease. This new …

Genome sequencing can identify individuals in the general population who harbor rare
coding variants in genes for Mendelian disorders,,,,,, and who may consequently have …

Background Expanded carrier screening (ECS), which can identify carriers of a large
number of recessive disorders in the general population, has grown in popularity and is now …

In your practice, you require advanced knowledge of the obstetrical, medical, genetic and
surgical complications of pregnancy and their effects on the mother and fetus. With both …

With the increased international focus on personalized health care and preventive medicine,
next-generation sequencing (NGS) has substantially expanded the options for carrier …