carrier screening

car·ri·er screen·ing

indiscriminate examination of members of a population to detect heterozygotes for serious disorders and counsel about the risks of marriages with other carriers, and by prenatal diagnosis where a married couple are both carriers; often sacrifices specificity to sensitivity and is most effectively applied to populations known to be at high risk.

car·ri·er screen·ing

(kar'ē-ĕr skrēn'ing)
Indiscriminate examination of members of a population to detect heterozygotes for serious disorders and provide subsequent counsel about the risks of marriages to other carriers, and by prenatal diagnosis when both spouses in a married couple are both carriers.

carrier screening

, carrier identification
Performing genetic tests on a person to see if he or she may carry a recessive trait that might be expressed after mating with another carrier of the trait. It is used in high-risk families or populations to screen for illnesses such as cystic fibrosis, Gaucher's disease, and Tay-Sachs disease.
References in periodicals archive ?
Keywords: Thalassaemia, Awareness, Attitude, Carrier screening, Genetic disease, Prevention.
Finally, given the rapidly changing technology, new screening recommendations, and the complexity of counseling, carrier screening was chosen as a genetic hot topic for this year.
The acquisition of CombiMatrix complements Invitae's recent acquisition of another reproductive genetics company, Good Start Genetics, to establish a menu with the breadth and depth needed to provide comprehensive support for women, their partners and clinicians to use genetic information when considering their reproductive health options, from carrier screening to preimplantation genetic screening and diagnosis to newborn diagnostics.
Invitae's reproductive genetics products, which include Good Start Genetics' GeneVu, EmbryVu and VeriYou, provide preimplantation genetic screening and carrier screening to offer comprehensive and flexible testing options.
Structure of carrier screening programmes varies among different populations in several aspects, including whether the programmes are mandatory or voluntary, at which stage of carrier screening the education and counseling was provided; pre-marital, pre-pregnancy or antenatal, and whether screening test is offered pre-marital, pre-pregnancy or antenatally.
MedGenome's diagnostics tests include many "firsts" for genetic diagnostics in India, including first liquid biopsy "OncoTrack" for monitoring cancer treatment, non-invasive prenatal screening test (NIPT) for pregnant women, carrier screening test for couples planning on a baby, and whole exome sequencing test for identifying mutations in rare diseases.
Recently, the American College of Obstetricians and Gynaecologists recommended that carrier screening (https://www.
to establish a standard carrier screening process that is consistently offered to all patients before pregnancy.
This question underpins and connects the author's concern with Eastern European Jewish immigration to the US and UK that spanned the late nineteenth and early twentieth centuries, as well as the Jewish community's own implementation, since the 1970s, of mass carrier screening to successfully eradicate Tay-Sachs.
The Jewish community's response to Tay-Sachs may be a public health success story, and yet it has led to little standardization in carrier screening, even among Jews.
Here we propose a multiplexed method for determining the presence and size of abnormal microsatellite expansions in the context of FXS and related conditions, potentially enabling carrier screening at scales comparable to those enabled by NGS or affordable testing of every newborn for the CGG repeat expansion.
In addition to screening for chromosome abnormalities, pregnant couples are typically offered carrier screening for genetic conditions such as cystic fibrosis (CF).

Full browser ?