Prevention of Lysosomal Storage Diseases and Derivation of Mutant Stem Cell Lines by Preimplantation Genetic Diagnosis
Table 3
IVF-PGD treatment outcome.
Disease
Family number
Total cycles
Number of oocytes retrieved
Number of oocytes/embryos biopsied
Wild type/ carrier/mutant#
Number of transferable embryos
Number of embryos transferred/cycle
Treatment outcome
1*
3
32
26
3/4/17
7
2
3 children from 3 cycles
2
3
16
16
8/4/4
12
2
Twins
3
1
5
4
0/1/3
1
1
No pregnancy
4
2
15
13
4/5/4
7
2
Twins
5
1
12
10
3/7/0
10
2
One child
Tay Sachs
6
7
44
38
10/20/8
30
1-2
One child
7
1
5
5
2/0/3
2
2
No pregnancy
8
4
26
18
4/7/3
11
1-2
One child
9
1
11
10
2/5/3
7
1
One child
10
1
8
6
0/4/2
4
1
One child
11**
3
30
24
3/8/13
3
3
No pregnancy
Gaucher
2
11
28
23
6/10/7
16
2-3
One spontaneous abortion week 10, one child, and one ongoing twin pregnancy week 22
3
2
15
13
0/6/7
6
1-2
One child
4
1
6
6
2/2/2
4
1
One child
1
4
45
35
6/10/19
6
1-2
One child
Hunter
2
1
16
11
4/0/5
4
2
Twins
3***
7
35
33
9/0/19
9
1-2
Twins
Fabry
1
3
38
23
6/0/17
7
1-2
One child
2
1
4
2
1/0/1
1
1
One 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.
