Genetic Diseases that Can be Diagnosed by PGD

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Almost all genetically inherited conditions that are diagnosed in the prenatal period can also be detected in the pre-implantation period. Diseases which have a high risk of transmission (25-50%) and are usually associated with significant morbidity and mortality can be screened for by this technique.

It is possible to perform PGD for any genetic disorders, autosomal dominant, recessive or X-linked, with an identifiable mutation. For pathologies caused by expansions of nucleotidic triplettes (such as Fragile X, Huntington's disease, Myotonic Dystrophy, etc.) it is possible to obtain only information on the absence of triplette expansion. Whether or not to undergo examination must therefore be evaluated case-by-case. Below is a table listing of the most frequent genetic diseases that can be diagnosed by PGD.

Genetic diseases transmittable to offspring that can be analyzed by genetic diagnosis after biopsy of the embryos are:

Achondroplasia Marfan syndrome
Adrenoleukodystrophy MELAS
Agammaglobulinemia Multiple Endocrine Neoplasia Type II
Alpha-1-Antitrypsin (MEN II)
Alpha Thalassemia Multiple Epiphysial Dysplasia
Alport Disease Myotonic Dystrophy
Alzheimer's disease - Early onset Myotubular myopathy
(PSEN1-2) Neurofibromatosis type I
Becker muscular dystrophy Neurofibromatosis type II
Beta Thalassemia Norrie disease
Charcot Marie Tooth Osteogenesis imperfecta I - IV
Chromosomal aneuploidies by FISH OTC Deficiency
Cystic Fibrosis P53 Oncogene
Cruzon syndrome Phenylketonuria
Duchenne muscular dystrophy Polycystic kidney disease (Autosomal
Dystonia Dominant types I and II)
Epidermolysis Bullosa Retinitis Pigmentosa
Fanconi Anemia SCA 6
Familial adenomatous polyposis Sickle Cell Anemia
(FAP) Sonic hedgehog mutations
Familial dysautonomia Spinal/Bulbar Muscular Atrophy
Fragile-X syndrome Spinal Muscular Atrophy
Gaucher’s Disease Tay-Sachs Disease
Glycogen storage disease Translocations by FISH
Hemophilia A and B Tuberous sclerosis
HLA typing Von Hippel Lindau
HSNF5 mutations Wiskott-Aldrich syndrome
Huntington disease X-linked Disease by sexing
Hurler syndrome X-linked hydrocephalus
Incontinentia pigmentii X-linked hyper IgM syndrome
Kell disease
Lesch Nyhan Syndrome
Long Chain Acyl-Co A
Dehydrogenase (LCHAD) deficiency


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Dr Thanos Paraschos,
trained by the Father of PGD,
Lord Professor Robert Winston

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Our desire and your passion for maternity had as a result the birth of two wonderful babies. You helped us not only physically but psychologically also since we never felt uncomfortable or unpleasant at the friendly environment of your center. At the moment besides the satisfaction and the tiredness of motherhood we also feel love and appreciation towards you and your center. A big thank you from my heart.

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A Pioneer in Fetal Medicine

Thanos Paraschos at EmBIO Medical Center with Professor Kypros Nikolaides,,
Professor of Fetal Medicine, King's College Hospital and founder of the Fetal Medicine Foundation