Genetic Diseases that Can be Diagnosed by PGD

Genetic Diseases that Can be Diagnosed by PGD

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:

Aarskog Achondroplasia
Actin-Nemain Myopathy Acute Intermittent Porphyria
Acute Megakaryocytic Leukemia Acenomatous Polyposis Coli
Adrenoleukodystrophy Agammaglobulinemia-Bruton
Alagille Syndrome aldolase A deficiency
Alpers Syndrome Alpha Thalassemia
Alpha Thalassemia/Mental Retard Alpha-1-Antitrypsin Deficiency
Alport Syndrome ALS: Amyotrophic Lateral Sclerosis 1
Alzheimer Disease 3 Amegakaryocytic Thrombocytopenia, Congenital
Amyloidosis I-Translhyretin Angioedema, Hereditary
Aniridia Ankylosing Spondylitis
Antithrombin Deficiency Apert Syndrome
Ataxia Telengiectasia Bardet-Biedl Syndrome-Type 1
Bardet-Biedl Syndrome-Type 10 Basal Cell (Gorlin) Synd
Batten Disease, Neuronal Ceroid Lipofuscinosis 3 Beta Thalassemia
Birt-Hogg-Dube Bloom Syndrome
Brachydactyly-Type C Breast Cancer
Canavan Disease Cardiomyopathy, Barth Type Dilated
Cardiomyopathy, Dilated Hypertrophic Cardiomyopathy, Familial Hypertrophic 2
Darnitine-AcylCarn Hypertrophic 2 Carnitine-AcylCarn Translocase
Ceroid-Lipofuscinoses-Batten Disease Ceroid-Lipofuscinoses-Finish Type
Ceroid-Lipofuscinoses-Jivenile Type Charcot Marie Tooth Neuropathy 1B
Charcot Marie Tooth Neuropathy 2E Cherubism
Choroideremia Chronic Granulomatous Disease
Citrulinemia Cleidocranial Dysplasia
Cockayne Syndrome Type B Colon Cancer
Congenital Adrenal Hyperplasia Congenital Disorder Glycosylation, 1a-CDG-1a
Congenital Disorder Glycosylation, 1c-CDG-1c Congenital Disorder Glycosylation, 1e-CDG-1e
Congenital Disorder Glycosylation, 1g-CDG-1g Congenital Erythropoietic Porphyria
Cosman-Cyclic Neutropenia Crigler Najjar
Crouzon Syndrome Cystic Fibrosis
Cystinosis Darier Disease
Deafness, Recessive Denys-Drash Wilms Tumor
Desmin Storage Myopathy\Diamond Blackfan Duchenne muscular dystrophy
Dyskeratosis Congenita Dystronia
Dystrophia Myotonica-1 Dystrophia Myotonica-2
Ectodermal Dysplasia I Ehlers-Danlos
Emery-Dreifuss X-linked Muscular Dystrophy Emery-Dreifuss X-linked AutoDom Dystrophy
Epidermolysis Bullosa\Epidermolysis Bullosa Simplex Epidermolysis Bullosa\Epidermolysis Bullosa / Pyloric Atresia
Epidermolysis Dystrophic Bullosa Epidermolysis Hyperkeratosis
Fabry Facioscapulohumeral Dystrophy
Factor 13 Dysautonomia Familial Exudative Vitreoretinopathy
Fanconi Anemia A Fanconi Anemia C
Fanconi Anemia F Fanconi Anemia J
FanconiaAnemia G Fragile X
Galactosemia Gastric Cancer, Cadherin-E-1
Gaucher Disease Genotyping p Molecular Signature - Fingerprinting
Gerstmann-Straussler Disease Glutaric Acidemia 2A
Glycine Encephaloopathy GLDC 80% Glycogen Storage Disease 1, Von Girke- GSD1a
Glycogen Storage Disease 2, Pompe- GSD2 GM1 Gangliosidiosis, Morquio
Hallervorden-Spatz-Pantothenate Hemophilia A
Hemophilia B Hereditary Hemmorrhagic Telangietasia Type 1
Histiocytosis, Hemophagocytic Lympho HLA DRBeta1 Class II MHC
HLA-Histocompatability, Transplantation Matching Holt-Oram
Homocystinuria Hunter Syndrome
Huntington Disease Hurler Syndrome
Hydrocephalus: X-Linked Hyper IgM
Hypokalemic periodic paralysis Hypophosphatasia
Hypophosphatemic VitD Rickets Icthyosis, H-Steroid Sulf Def
Icthyosis, Congenital, Harlequin Incontinentia Pigmenti
IPEX - Immunodysregulation, polyendocrinopathy, and entereopathy, x-linked Joubert Syndrome
Kalimann Syndrome KELL Antigen
Kennedy-Spinal bulbar Krabbe
Leber Retinal Congenital Amaurosis-I Leber Retinal Congenital Amaurosis-X
Leigh Syndrome Leiomyomatosis-Hereditary
Lesch-Nyhan Leukemia, Acute Lymphocytic, Transplantaion
Leukemia, Acute Lymhocytic Transplantation Leukemia, Acute Myelogenous, Transplantation
Leukemeia, Chronic Myelogenouys, Transplantation Leukocyte Adhesion Deficiency
Li-Fraumeni Syndrome Limb Girde MD
Long-Chain-AcylCoA Dehydrogenase Long QT Syndrome
Lymphedema-Hereditary Lymphoproliferative Disorder, X-linked
Machado-Joseph Spinocerebellar Ataxia-3 Amacular Dystr-Best Vitelliform
Maple syrup Urine Dz E1-Beta Marfan Syndrome
Meckel-Gruber Syndrome-3 Menkes
Merosin-deficient congenital muscular dystrophy type 1A Metachromatic Leukodystrophy
Methylocobalamin G Deficiency Methlmalonic Acidemia
Mitochondrial Myopathy-Complex I Mucolipidosis 2, I Cell
Multiple Endocrine Neoplasia 1 Multiple Endocrine Neoplasia 2 MEN2
Multiple Extostoses Myasthenia Gravis
Myotonic Muscular Dystrophy Myotubular Myopathy X-Linked
NEMO immunodeficiency Nephrosis - Finnish
Neurofibromatosis 1 Neurofibromatosis 2
Niemann-Pick - Type A Niemann-Pick - Type C
NonKetonic Hyperglycinemia Noonan
Norrie Occulocculaneous Albinism II
Occulocculaneous Albinism I, OCA1 Ocular Albinism X-Linked
Oculodentodigital Dysplasia Optic Atrophy 1
Omithine transcarbamylase deficiency Osteogenesis Imper II/IV and Chondrodysplasias
Osteogenesis Imperfecta I Osteopetrosis
Pachyonychia Congenita Pancreatitis, Chronic Calcific
Pancreatitis Hereditary Paraganglioma-Nonchromaffin
Pelizaeus-Merzbacher, X-linked Periventricular Heteropia
Pendred Syndrome Persistent Hyperinsulinemic Hypoglycemia of Infancy
Peutz-Jeghens Syndrome Pfeiffer Syndrome
Phenylketonuria PKU Pheochromocytoma
Plycystic Kidney Disease Pompe, Glycogen Storage Disease 2, GSD2
Propionic Acidemia Pseudohypoparathyroidism 1a
Retinitis Pigmentosa Retinitis Pigmentosa adRP10
Retinitis Pigmentosa X-linked Retinoblastoma 1
Retinoschisis Rett Syndrome
Rhesus blood group D Rhizomelic Chondrodysplasia Punctata
Rothmund-Thompson Syndrome SacralAgenesis
Sanfilippo A Sanfillipo B
Sathre-Chotzen Craniosynostosis SCIDX1
Severe Comb Immunodef Shwachman-Diamond Syndrome
Sickle Cell Simpson-Golabi-Behmel Syndrome
Sjogren-Larsson Smith-Lemli-Opitz
Sorsby Fundus Dystrophy Spinal Muscular Atrophy SMA
Spinocerebellar Ataxia-1, SCA1 Spinocerebellar Ataxia-2, SCA2
Spinocerebellar Ataxia-3, SCA3, Machado-Joseph Spinocerebellar Ataxia-7, SCA7
Spondyloepiphyseal Dysplasia, Congenital Steroid Sulfatase Deficiency
Stomack-Ovarian-Endometrial Caner Supravalvular Aortic Stenosis
Surfactant-Pulmonary B Tay-Sachs
Thrombocytopenia with Beta-Thalassemia Torsion Dystonia
Treacher Collins Transplantation-BoneMarrow-StemCelll
Tubercus Sclerosis 1 Tubercus Sclerosis 2
Ulrich Congenital Muscular Dystrophy Usher Yndrome
VanderVoude-Popliteal Pterygium Von Hippel-Lindau Disease
aardenburg Syndrome Type II aardenburg Syndrome Type I/III
West Syndrome Wilms Tumor
Wiskott-Aldrich Syndrome Wolman Lipase A
Zellweger Peroxisome Disease  



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