PGD (Preimplantation Genetic Diagnosis)


Preimplantation Genetic Diagnosis (PGD) is recommended for couples who are known carriers of a single gene disorder (genetic disease) like Hemophilia or Cystic Fibrosis. PGD is performed after a woman’s eggs have been retrieved and fertilized by her partner’s sperm, but before the eggs have been transferred back into her uterus. When the fertilized egg has reached blastocyst stage, 5-7 cells are gently removed from each embryo using a microsurgery technique similar to that used in ICSI. The DNA from the removed cells are then analyzed using a specifically designed probe that is created to test for a specific gene disorder. PGD will diagnose a genetic defect in an embryo.

Common Diseases PGD can Diagnose:

A

  • Aarskog-Scott Syndrome
  • Achondroplasia
  • Achromatopsia
  • Acute Myeloid Leukemia
  • Adenylosuccinase Deficiency
  • Adrenoleukodystrophy
  • Agammaglobulinemia
  • Agenesis of the Corpus Callosum
  • Aicardi-Goutieres Syndrome
  • Alagille Syndrome
  • Alpha-Antitrypsin
  • Alpha-Thalassemia
  • Alpha-Thalassemia/Mental Retardation Syndrome
  • Alport Syndrome
  • Alstrom Syndrome
  • Amyloidosis
  • Amyotrophic Lateral Sclerosis
  • Angelman Syndrome
  • Aniridia
  • Ankylosing Spondylitis
  • Apert Syndrome
  • Argininosuccinic Aciduria
  • Arrhythmogenic Right Ventricular Dysplasia
  • Ataxia-Telangiectasia
  • Autoimmune Polyendocrinopathy Syndrome

B

  • Bardet-Biedl Syndrome
  • Barth Syndrome
  • Basal Cell Nevus Syndrome aka Gorlin Syndrome
  • Becker Muscular Dystrophy
  • Beckwith-Wiedemann Syndrome
  • Beta Thalassemia
  • Birt-Hogge-Dube Syndrome
  • Blepharophimosis, Ptosis and Epicanthus Inversus Syndrome
  • Brachydactyly
  • Brachydactyly – Hypertension Syndrome
  • Breast and Ovarian Cancer, Hereditary (HBOC)

C

  • Canavan Disease
  • Carnitine-Acylcarnitine Translocase Deficiency
  • Cerebral Arteriopathy with Subcortical Infarcts & Leukoencephalopathy (CADASIL)
  • Cerebral Cavernous Malformation
  • Charcot-Marie-Tooth Disease
  • CHARGE Syndrome
  • Cherubism
  • Choroideremia

D

  • D-Bifunctional Protein Deficiency
  • Darier Disease
  • Deafness, Autosomal Recessive
  • Dentinogenesis Imperfecta
  • Denys-Drash Syndrome
  • Desmin Storage Myopathy
  • Diamond-Blackfan Anemia
  • Duchenne Muscular Dystrophy
  • Dyskeratosis Congenita
  • Dyssegmental Dysplasia, Silverman-Handmaker Type
  • Dystonia
  • Dystrophia Myotonica

E

  • Ectodermal Dysplasia
  • Ehlers-Danlos Syndrome
  • Emery-Dreifuss Muscular Dystrophy
  • Epidermolysis Bullosa
  • Epidermolytic Hyperkeratosis
  • Epileptic Encephalopathy, Early Infantile

F

  • Fabry Disease
  • Factor V Leiden (FV)
  • Familial Adenomatous Polyposis (FAP)
  • Familial Dysautonomia
  • Familial Exudative Vitreoretinopathy (FEVR)
  • Fanconi Anemia

H

  • Hay-Wells Syndrome (Ectrodactyly, Ectodermal Dysplasia and Clefting Syndrome)
  • Hemophagocytic Lymphohistiocytosis, Familial
  • Hemophilia A
  • Hemophilia B
  • Hereditary Angioedema
  • Hereditary Hemorrhagic Telangiectasia (HHT)
  • Hereditary Leiomyomatosis
  • Hereditary Lymphedema
  • Hereditary Nonpolyposis Colorectal Cancer (HNPCC) or Lynch Syndrome
  • HLA
  • Holoprosencephaly
  • Holt-Oram Syndrome
  • Homocystinuria
  • Hunter Syndrome
  • Huntington Disease
  • Huntington Disease – Non-Disclosing
  • Hurler Syndrome
  • Hyaline Fibromatosis Syndrome
  • Hydrocephalus
  • Hypertrophic Cardiomyopathy
  • Hypokalemic Periodic Paralysis
  • Hypophosphatasia
  • Hypophosphatemic Rickets

I

  • Icthyosis, Congenital
  • Immunodeficiency
  • Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-linked (IPEX)
  • Inclusion Body Myopathy with Early-Onset Paget Disease & Frontotemporal Dementia
  • Incontinentia Pigmenti
  • Insensitivity to Pain, Congenital, with Anhidrosis
  • Interleukin 1 Receptor Antagonist Deficiency

J

  • Joubert Syndrome

K

  • Kallmann Syndrome 2
  • KELL Antigen
  • Kennedy Disease – Spinal and Bulbar Muscular Atrophy
  • Krabbe Disease

L

  • LCHAD Deficiency
  • Leber Congenital Amaurosis
  • Leigh Syndrome
  • Lesch-Nyhan Syndrome
  • Leukocyte Adhesion Deficiency
  • Li-Fraumeni Syndrome
  • Limb Girdle Muscular Dystrophy
  • Long QT Syndrome

M

  • Machado-Joseph Disease
  • Macular Dystrophy
  • Maple Syrup Urine Disease
  • Marfan Syndrome
  • MCAD Deficiency
  • McLeod Syndrome
  • Meckel Syndrome
  • Mediterranean Fever, Familial
  • Menkes Disease
  • Merosin-Deficient Congenital Muscular Dystrophy
  • Metachromatic Leukodystrophy
  • Methylmalonic Acidemia
  • Microphthalmia
  • Mitochondrial Complex 1 Deficiency
  • Mitochondrial Depletion Syndrome
  • Mucolipidosis II (I-Cell Disease)
  • Mucolipidosis III
  • Mucolipidosis IV
  • Multiple Endocrine Neoplasia
  • Multiple Exostoses
  • Myasthenia Syndrome, Congenital
  • Myotonic Dystrophy
  • Myotubular Myopathy

N

  • Nail-Patella Syndrome
  • Nemaline Myopathy
  • NEMO Immunodeficiency
  • Nephrosis, Finnish
  • Neurofibromatosis 1
  • Neurofibromatosis 2
  • Neuronal-Ceroid-Lipofuscinoses (Batten Disease)
  • Niemann-Pick Disease
  • Nonketotic Hyperglycinemia
  • Nonsyndromic Hearing Loss
  • Noonan Syndrome
  • Norrie Disease

O

  • Ocular Albinism
  • Oculocutaneous Albinism
  • Oculodentaldigital Dysplasia
  • Optic Atrophy
  • Ornithine Transcarbamylase Deficiency
  • Osteogenesis Imperfecta
  • Osteopetrosis

P

  • Pachyonychia Congenita
  • Pancreatitis, Hereditary
  • Papillorenal Syndrome
  • Peroxisome Biogenesis Disorders (Zellweger Syndrome Spectrum)
  • Peutz-Jeghers Syndrome
  • Pfeiffer Syndrome
  • Phenylketonuria
  • Pheochromocytoma
  • Polycystic Kidney Disease
  • Polycystic Kidney Disease, Autosomal Recessive
  • Pompe Disease
  • Pontocerebellar Hypoplasia
  • Progressive Familial Heart Block, Type IB
  • Propionicacidemia
  • Pseudoachondroplasia
  • Pseudohypoparathyroidism

R

  • Retinitis Pigmentosa
  • Retinoblastoma
  • Retinoschisis
  • Rett Syndrome
  • Rhesus Blood Group D
  • Rothmund-Thomson Syndrome

S

  • Saethre-Chotzen Syndrome
  • Sanfillipo
  • Senior-Loken Syndrome
  • Severe Combined Immunodeficiency (SCID)
  • Sexing
  • Short Rib Polydactyly Syndrome
  • Shwachman-Bodian-Diamond Syndrome
  • Sickle Cell Anemia
  • Simpson-Golabi-Behmel Syndrome
  • Sjogren-Larsson Syndrome
  • Smith-Lemli-Opitz Syndrome
  • Sorsby Fundus Dystrophy
  • Spastic Paraplegia
  • Spinal Muscular Atrophy
  • Spinocerebellar Ataxia
  • Spondyloepiphyseal Dysplasia
  • Stickler Syndrome
  • Stuve-Wiedemann Syndrome
  • Succinic Semialdehyde Dehydrogenase Deficiency
  • Supravalvar Aortic Stenosis
  • Surfactant Metabolism Dysfunction, Pulmonary

T

  • Tay-Sachs Disease
  • Thrombocytopenia with Beta Thalassemia
  • Torsion Dystonia
  • Treacher Collins Syndrome
  • Tuberous Sclerosis

U

  • Ullrich Congenital Muscular Dystrophy
  • Usher Syndrome

V

  • VLCAD Deficiency
  • Von Hippel-Lindau Syndrome

W

  • Waardenburg Syndrome
  • Walker-Warburg Congenital Muscular Dystrophy
  • WHIM Syndrome
  • Wiskott-Aldrich Syndrome
  • Wolman DiseasE

X

  • Xeroderma Pigmentosum