More on PGD


I found a little bit more on which diseases PGD (preimplantation genetic diagnosis) is able to screen for and identify:

Cystic Fibrosis
Sickle Cell Anemia
Thalassemia
Tay Sachs Disease
Myotonic Dystrophy
Fragile X Syndrome
Phenylketonuria
Gaucher’s Disease
Retinoblastoma
Hemophilia A&B
Fanconi Anemia
Alzheimer’s
Retinitis Pigmentosa
Epidermolysis Bullosa
Duchenne’s muscular dystrophy
P53 Oncogene Mutation
HLA Genotyping
OTC Deficiency
Neurofibromatosis
Multiple Epiphyseal Dysplasia
Achondroplasis
LCHAD
X-Linked Hydrocephalus
ADA Deficiency

The hope is that if your baby is at risk for any of the above hereditary and/or chromosomal diseases, this procedure will be able to assess and evaluate embryos for the above listed diseases. Then, only the healthy embryos will be transferred to the woman’s uterus.

This is a quick procedure that only takes about a day to make a diagnosis. So the information is quickly available to everyone involved in the decision making process regarding pregnancy.

It is always amazing to me how much you can find out from a tiny embryo…wow!

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By TTC veteran and mother of two, Elizabeth Andrews.