Prevention of autosomal recessive disorders
Reducing carrier couple pregnancies through testing and reproductive options.
Prevention of autosomal recessive disorders aims to reduce the likelihood that two carriers of the same recessive condition will have children together. This approach focuses on identifying carrier couples before or during pregnancy. It is notable for its direct impact on individual family outcomes rather than on population-wide allele frequencies.
Quick Facts
- Jewish descent disorders include
- Tay–Sachs disease
- Cypriot testing
- fully subsidized and mandated on Cyprus
- Maldivian testing
- fully subsidized and mandated in the Maldives
- African sickle-cell disease
- carrier testing not widely available in many African countries
Facts from the source article.
Did You Know?
- A child of two carriers has a 1/4 chance of being affected by the disorder.
- Because carriers are unaffected, recessive alleles can persist in the gene pool even if the disorder is 100% lethal.
- In Maine, first cousins can marry with proof of genetic counseling; in Arizona and several other states, first cousins can marry if they are old or infertile.
Carrier testing
Carrier testing helps guide decisions for high-risk couples. Examples include both partners of Jewish descent (Tay–Sachs disease, with testing offered by Dor Yeshorim in many countries), both Cypriot (thalassemia, fully subsidized and mandated on Cyprus), both Maldivian (thalassemia, fully subsidized and mandated in the Maldives), and both from affected parts of Africa (sickle-cell disease, where testing is not widely available and disease burden remains high). Couples who learn they are both carriers may choose to part ways, adopt, or use preimplantation genetic diagnosis to select unaffected embryos.
More in Autosomal Recessive Disorders
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