Preimplantation genetic diagnosis of Morquio disease

Abstract

A feasible strategy for PGD of Morquio disease including whole genome amplification by MDA and the use of preimplantation genetic haplotyping is described. MDA product archiving will be useful for future investigations if needed.

Development and successful clinical application of preimplantation genetic haplotyping for Herlitz junctional epidermolysis bullosa

“…20 Since then, other groups have introduced whole genome amplification, by a method called multiple displacement amplification (MDA), and indirect haplotyping into their PGD programmes. 22,23 Moreover, PGH has been applied in a number of other genetic and chromosomal disorders. 24 This new approach represents a major step forward in widening the scope and availability of PGD for serious mapped single-gene disorders.…”

“…This approach was initially used to successfully haplotype and diagnose embryos for one couple with cystic fibrosis (MIM 219700) and one with Duchenne muscular dystrophy (MIM 310200) 20 . Since then, other groups have introduced whole genome amplification, by a method called multiple displacement amplification (MDA), and indirect haplotyping into their PGD programmes 22,23 . Moreover, PGH has been applied in a number of other genetic and chromosomal disorders 24 …”

Preimplantation Genetic Diagnosis and Selection

“…However, in a recent prospective cohort study, two-cell removal has been shown to negatively impact clinical outcome (De Vos et al, 2009). In our hands, removing two cells has been shown to increase the amplification efficiency of whole genome amplification (WGA) and reduce allele dropout (ADO) rate without affecting the pregnancy rates (Coskun et al, 2008).…”

Birth of a healthy infant following preimplantation PKHD1 haplotyping for autosomal recessive polycystic kidney disease using multiple displacement amplification

“…Despite the fact that high ADO rates of PGD testing using MDA products derived from single cells could lead to misdiagnosis [34], the reliability of this approach has been demonstrated by many successful PGD protocols using single-cell MDA products provided that a sufficient number of STR markers are used [32,35,36].…”