OUR EXPERIENCE ON PGD


PGD FOR SINGLE GENE DISORDERS

A total of 334 couples underwent 561 PGD cycles for 45 different indications (Table I).The mean maternal age was 31.8 ? 4.3 years, ranging from 21 to 44.

The single gene defects investigated included autosomal dominant (34 cycles; 22 couples), autosomal recessive (303 cycles; 191 couples) and X linked disorders (27 cycles; 15 couples). A total of 197 cycles, for 106 couples, were also performed for HLA matching.

Myotonic dystrophy was the most frequent autosomal dominant disease tested (n = 9). β-Thalassemia was the most frequent autosomal recessive disorder (n = 217), followed by cystic fibrosis (n = 40), and Spinal Muscular Atrophy (n = 15). Haemophilia A (n = 6) and Duchenne muscular dystrophy (n = 5%) were the most frequent X-linked disorders investigated.

A total of 4663 embryos were analysed. PCR amplification was successful in 6057 out of 6664 blastomeres (91.0%). Amplification failed for all the markers/loci tested in 607 blastomeres. The efficiency of amplification for the individual genetic conditions ranged from 80.0% to 100%, with an overall amplification rate of 92.4%. The ADO rates varied between the different loci/markers investigated, ranging from 0,0% to 12,9%, with an average ADO rate of 7.5%.

Overall, 4269 (91.6%) embryos were successfully genotyped in the 561 clinical cycles.
Following transfer of 758 embryos, 141 women had positive hCG levels (35.7% pregnancy rate per embryo transfer), 116 of which were confirmed with fetal sacs and heart beat. 25 pregnancies spontaneously miscarried within the first trimester and two ectopic pregnancies were terminated. 38 pregnancies are still ongoing, whereas the others 69 went to term without complications, resulting in the birth of healthy babies.

 

Disease

Gene

N. Cycles

N. Couples

N. of clinical pregnancies

N. of pregnancies still ongoing

N. of pregnancies delivered

Autosomal Dominant   34 22 8 3 5
Charcot Marie Tooth type 1A PMP22 1 1 1 1 0
Congenital fibrosis of extraocular muscles KIF21A 2 1 0 0 0
Hand-Foot-Uterus syndrome / Synopolydactlyly HOXD13-
HOXA13
2 1 0 0 1
Holt-Oram Syndrome TBX5 1 1 1 0 1
Huntington HD 3 3 2 1 1
Li-Fraumeni Syndrome p53 2 1 0 0 0
Myotonic dystrophy DMPK 9 5 0 0 0
Neurofibromatosis type 1 NF1 4 3 1 1 0
Retinoblastoma RB1 4 2 0 0 0
Tuberossclerosis 1 TSC1 1 1 1 0 1
Spastic Paraplegia type3 SPG3A 1 1 1 0 1
Torsion dystonia, early onset DYT1 3 1 1 0 2
Von Hippel-Lindau syndrome VHL 1 1 0 0 0
             
Autosomal Recessive   240 156 55 19 36
3-Hydroxyisobutyryl-CoA hydrolase deficiency HIBCH 1 1 0 0 0
Cystic Fibrosis CFTR 40 30 9 1 7
Congenital adrenal hyperplasia CYP21A2 3 3 1 1 0
Factor VII deficiency F7 1 1 1 0 0
Familial Mediterranean Fever MEVF 2 1 0 0 0
Gangliosidosis GLB1 2 1      
Homocystinuria MTHFR 1 1 1 1 0
Hypomagnesemia CLDN16 1 1 0 0 0
Limb-girdle muscular dystrophy type 2C SGCG 1 1 0 0 0
Mevalonic aciduria MVK 1 1 0 0 0
Mucopolysaccharidosis Type IIIA - Sanfilippo sindrome A SGSH 5 1 1 1 0
Mucopolysaccharidosis type IIIB - Sanfilippo syndrome B NAGLU 1 1 1 1 0
Mucopolysaccharidosis Type VI - Maroteaux-Lamy Syndrome ARSB 2 1 1 0 1
Neuronal ceroid lipofuscinosis 1 - Batten's disease PPT1 1 1 1 0 1
Niemann-Pick disease SMPD1 1 1 1 1 0
Tay Sachs HEXA 1 1 0 0 0
Thalassemia - β HBB 217 127 31 9 21
Sickle cell anemia HBB 7 4 2 1 1
Spinal Muscular Atrophy SMN 15 13 5 3 3
             
X-linked   27 15 11 2 7
Adrenoleukodystrophy ABCD1 3 2 1 1 0
Alpha-Thalassemia mental retardation syndrome ATRX 1 1 0 0 0
Charcot Marie Tooth type X CMTX 3 1 3 0 1
Chronic granulomatous disease CYBB 1 1 1 0 2
Duchenne muscular dystrophy DMD 5 2 1 0 1
Fragile - X FRAXA 2 1 0 0 0
Glucose-6-phosphate dehydrogenase deficiency G6PD 1 1 0 0 0
Haemophilia A F8 6 3 3 1 1
Haemophilia B F9 3 1 1 0 1
Lesch-Nyhan syndrome HPRT 1 1 0 0 0
Wiskott-Aldrich Syndrome WAS 1 1 1 0 1
             
Specific traits   197 106 42 14 20
SGD + HLA Matching Gene + HLA 159 88 34 11 18
HLA Matching only HLA 38 18 8 3 2
TOTAL 561 334   116 38 69




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