Screening for a Healthy Future

Numerous diseases and disorders classified as either chromosomal disorders, single gene defects or sex-linked disorders can be tested for through PGD. Specific chromosomes are tested for specific disorders, including:

Chromosome 13: Breast and ovarian cancers, deafness, Wilson Disease
Chromosome 15: Marfan Syndrome, Tay-Sachs Disease
Chromosome 16: Polycystic kidney disease, Alpha thalassemia
Chromosome 17: Charcot-Marie-Tooth Disease
Chromosome 18: Niemann-Pick Disease, pancreatic cancer
Chromosome 21: Down Syndrome
Chromosome   X: Duchenne muscular dystrophy (DMD), Turner’s Syndrome,
and Fragile X Syndrome
Chromosome   Y: Acute myeloid leukemia

We can also test for X-linked diseases, which only affect males, (e.g. hemophilia A, adrenoleukodystrophy, Hunter’s disease) by identifying the sex of embryos and transferring only female embryos. We also offer PGD for single gene defects such as cystic fibrosis (CF), the common deletion (^F508), spinal muscular atrophy (SMA), and Myotonic Dystrophy (DM). We also perform aneuploidy screening and chromosome translocations to detect abnormalities that may cause spontaneous abortions in early pregnancy. We can perform PGD for all single gene defects where the specific mutation is identified and as long as we can develop a special genetic probe for the disease.