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PGD – Preimplantation Genetic
Diagnosis
• PCR and genetic probes
– Cystic fibrosis
– Tay-Sachs
– Sickle Cell Disease
• FISH staining
– Aneuploidy
• Down syndrome
• Unbalanced translocation
– Sex chromosome
identification
• Duchenne muscular
dystrophy
• Hemophilia A
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Fertility and IVF Center of
Miami
• Michael H. Jacobs, M.D.
• Fernando M.Akerman, M.D.
• Jeffrey J. Knickerbocker, Ph.D.
• Simone Tap, B.S.
• Diana Fonseca, B.S.
• Helen Dantuma, R.N.
• Marcia Goss, R.N.
• Marlene Carpentieri, R.N.
• Fanny Aleman, R.N.
• Silvia Giachetti, R.N.
• Denise Williams, R.N.
• Maria E. Amado
• Maria Salcedo
• Maria Mestas
• Mimi Garcia
• Karla Moreno
• Ester Aguilar
• Angela Cansino
• Carla Webster
• Larisa Fox
• Carmen Barahona
• Luisa Lopez
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• Achondroplasia
• adenosine deaminase
deficiency
• alpha-1-antitrypsin deficiency
• Alzheimer disease (AAP gene)
• beta thalassemia
• cystic fibrosis
• epidermolysis bullosa
• Fanconi anemia
• Gaucher disease
• hemophilia A and B
• Huntington disease
• muscular dystrophy (Duchenne
and Becker)
• myotonic dystrophy
• neurofibromatosis type I
• phenylketonuria
• retinoblastoma
• retinitis pigmentosa
• sickle cell disease
• spinal muscular atrophy
• Tay Sachs disease