avoiding CMT-PGD in USA/Florida info.

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from the website http://www.drpabon.com/fcs-other_procedures.htm#PGD

PGD (Pre-Implantation Genetic Diagnosis)

Pre-implantation genetic diagnosis or PGD represents the " cutting edge "

in assisted reproductive technologies. PGD is a technique that allows

the patient and the clinician to obtain genetic information about a

dividing embryo while it is still in the IVF laboratory. This

information can be used to avoid genetic disease, to enhance the

possibility of implantation with normal development, and for family

balancing.

A dividing or growing 48hour old embryo is made up of 4-8 cells

(blastomeres). Each blastomere contains the entire genetic information

of the growing embryo. A small opening is made in the outer encasing

shell (Zona Pellucida) of the embryo. This type of microscopic procedure

uses techniques similar those used to perform the more

common Intracytoplasmic Sperm injection or Assisted Hatching procedures.

A single cell or blastomere is obtained and analyzed for chromosomal

abnormalities using genetic analysis techniques like fluorescent " in

situ " hybridization (FISH) or polymerase chain reaction (PCR). FISH is

used to evaluate embryos for structural or numerical chromosomal defects

(Aneuploidy) like Down's syndrome while PCR is used for

amplification and analysis of single gene abnormalities like Cystic

Fibrosis.

Fertility Center of Sarasota is pleased to report the delivery of our

first " PGD " pregnancy in December of 2002. These procedures avoided a

sex linked and deadly neurological disease. Embryos were evaluated for

their sex chromosome makeup in addition to other common abnormalities

associated with advanced maternal age.

Herein are listed some indications for PGD.

Chromosomal Defects:

Aneuploidy screen for Advanced Maternal Age, Recurrent Pregnancy Loss,

Recurrent IVF failures, Sex linked recessive disorders, Chromosomal

translocations, Kleinfelter syndrome and Sex chromosomal mosaicism.

Monogenic Diseases:

Autosomal Recessive-Cystic Fibrosis, Beta-thallasemias, Spinal muscular

dystrophy, Tay-Sachs disease, Rh isoimmunization, Gaucher disease,

Sandhoff disease, Sickle cell anemia, adrenoleukodystrophy, Dystonia,

Factor V Leiden, Familial hypophosphatemia, Fanconi anemia, Freidrech

ataxia, Medium chain AcylCoA deficiency, Methylmalonic academia,

Ornithine transcarbamylase deficiency, Pyruvate dehydrogenase

deficiency, Polycystic kidney disease.

Autosomal Dominant:

Myotonic dystrophy, Huntington's disease, CHARCOT-MARIE-TOOTH DISEASE,

Neurofibromatosis type 1, Marfan syndrome, Osteogenesis imperfecta.

X-Linked:

Duchenne and Becker's muscular dystrophy, hemophilia, Fragile

X-syndrome, Wiskott-Aldrich syndrome, CHARCOT-MARIE-TOOTH, Coffin-Lowry

syndrome, Granulomatous disease, Hydrocephalus, Agammaglobulinemia,

Ataxia, Autism, Barth syndrome, Golz

syndrome, Hunter syndrome, Hypohydrotic ectodermal dysplasia,

Lucontinentia pigmenti, Kennedy disease, Lowe syndrome,

Pelizaeus-Merzbacher syndrome, Proliferative disease, Retinitis

pigmentosa, Retinoschisis, Vit-D resistant rickets.

Unfortunately, the cost of this technology is still quite high.

Nonetheless, our center continues to have remarkably reasonable fees

when compared with other centers nationwide. Please contact our center

for specific questions about PGD. Please note that in the case of unique

familial or chromosomal abnormalities, custom genetic probes can be

constructed.