PGD analysis of embryos for monogenic disorders

The term monogenic disorder describes inherited disease caused by a defect in a single gene and encompasses those inherited in an autosomal recessive pattern, autosomal dominant, and sex-linked. DNA from single cells provides an acceptable PGD starter material but requires a lot of initial and ongoing test optimisation. PGD tests using whole gene amplification (WGA) allows diagnosis with standard DNA-based tests. Haplotyping has the advantage over the disease-specific tests being applicable to all couples known to have a mutation in the disease gene. Developing PGD tests is now faster and more efficient, allowing more equity of access for couples with rare disorders.