Preimplantation HLA typing: Practical tool for stem cell transplantation treatment of congenital disorders

Table 1 Experience in preimplantation genetic diagnosis with HLA typing

Disease	Patients	Cycles	No. of embryo transfers	No. embryos transferred	Pregnancy	Birth
Thalassemia/sickle cell disease	51	149	82	130	20	15
FANCA, FANCC, FANCD2, FANCF, FANCI, FANCJ	17	53	34	52	7	4
WAS	2	2	2	4	1	1
X-ALD	2	5	1	1	0	0
Hyper IgM	5	8	6	9	3	2
HED-ID	2	9	6	8	2	3
DBA	3	5	3	6	2	2
Krabbe	1	1	1	2	1	2
DM	1	2	1	2	1	2
Chronic granulomatous disease	1	3	3	5	1	1
Total	85	238	139	219	38	32

WAS: Wiscott-aldrich syndrome; X-ALD: X-linked adrenoleukodystrophy; HED-ID: Hypohidrotic ectodermal displasia with immune deficiency; DBA: Diamond-Blackfan anemia; DM: Dystrophia myotonica.

Table 2 Chances for detection of disease free and HLA match embryo in preimplantation HLA typing

HLA MATCH only-1/4 (25%)

Autosomal recessive or X-linked free + HLA MATCH-3/4 × 1/4 = 3/16 (18.75%)

Autosomal dominat free + HLA MATCH-1/2 × 1/4 = 1/8 (12.5%)

Autosomal recessive or X-linked free + HLA MATCH + ANEUPLOIDY-free-3/4 × 1/4 × 1/2 = 3/32 (9.4%)

Autosomal dominant free + HLA MATCH + ANEUPLOIDY-free-1/2 × 1/4 × 1/2 = 1/16 (6.25%)

HLA: Human leukocyte antigens.

Table 3 Preimplantation HLA typing with and without preimplantation genetic diagnosis

Preimplantation testing	Patients	Cycles	No. of embryo transfers	No. embryos transferred	Pregnancy/birth
HLA TESTING ONLY	46	98	65	99	24/19
HLA + MUTATION	85	238	139	219	38/ 32
Total	131	336	204	318	62/51

HLA: Human leukocyte antigens.