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- Title
Couple screening for recessively inherited disorders.
- Authors
Sisterna, Silvina; Borrell, Antoni
- Abstract
Couple screening aims to identify couples with an increased risk of having a child affected with an autosomal recessive or X-linked disorder, in order to facilitate informed reproductive decision making. Both expectant parents should be screened as a single entity, instead of individual testing. Carrier testing was typically performed for a few relatively common recessive disorders associated with significant morbidity, reduced life expectancy and often because of a considerably higher carrier frequency in a specific population for certain diseases. However, new genetic testing technologies enable the expansion of screening to multiple conditions, genes and sequence variants. There are multiple reproductive options for screening couples at risk, particularly when genetic traits are detected in the preconception period.
- Subjects
X-linked genetic disorders; PRENATAL diagnosis; GENETIC testing; HUMAN abnormalities; MEDICAL technology; RECESSIVE genes; MEDICAL protocols; GENETIC counseling; EXTRACELLULAR space; FERTILIZATION in vitro; NUCLEIC acids
- Publication
Journal of Medical Screening, 2023, Vol 30, Issue 2, p55
- ISSN
0969-1413
- Publication type
Article
- DOI
10.1177/09691413221137039