Molecular Biology International / 2012 / Article / Tab 3

Research Article

Prevention of Lysosomal Storage Diseases and Derivation of Mutant Stem Cell Lines by Preimplantation Genetic Diagnosis

Table 3

IVF-PGD treatment outcome.

DiseaseFamily numberTotal cyclesNumber of oocytes retrievedNumber of oocytes/embryos biopsiedWild type/ 
Number of transferable embryosNumber of embryos transferred/cycleTreatment outcome

1*332263/4/1772 3 children from 3 cycles
31540/1/311No pregnancy
5112103/7/0102One child
Tay Sachs67443810/20/8301-2One child
71552/0/322No pregnancy
8426184/7/3111-2One child
9111102/5/371One child
101860/4/241One child
11**330243/8/1333No pregnancy

Gaucher21128236/10/7162-3One spontaneous abortion week 10, one child, and one ongoing twin pregnancy week 22
3215130/6/761-2One child
41662/2/241One child

1445356/10/1961-2One child

Fabry1338236/0/1771-2One child
21421/0/111One child

Only embryos/oocytes which were fertilized and definitively diagnosed are included.
*Double carriers for Tay Sachs and Gaucher disease.
**The male was also a carrier of a balanced robertsonian translocation 45XYder(21;14), therefore some embryos could not be transferred due to unbalanced karyotype.
***Female carrier of mutation in IDS gene; both partners are carriers of mutations in the Tyrosinase (TYR) gene.

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