Which Diseases Can Be Detected by PGD?
Preimplantation Genetic Diagnosis (PGD) is a powerful tool used in conjunction with IVF to screen embryos for specific genetic diseases before implantation. This technique is particularly beneficial for couples who carry known genetic mutations and want to prevent the transmission of genetic disorders to their children.
Below is a comprehensive table of genetic diseases that can be detected using PGD:
| Congenital Adrenal Hyperplasia (CAH) | MCC Deficiency | Optic Atrophy Plus Syndrome |
| PTPS or BH4 Deficiency | Abetalipoproteinemia | Achromatopsia |
| Zinc Deficiency Dermatitis | Adrenoleukodystrophy (ALD) | ADA Deficiency |
| Alkaptonuria | AAT Deficiency | Alpha-Mannosidosis |
| Alpha-Thalassemia | Alport Syndrome | TAR Syndrome |
| Andermann Syndrome | Androgen Insensitivity Syndrome | Argininosuccinate Lyase Deficiency |
| Estrogen Deficiency Syndrome | ARSACS | Arts Syndrome |
| Asspartylglycosaminiduria | Louis-Bar Syndrome | ARPKD |
| Ataxia with Vitamin E Deficiency | Bardet-Biedl Syndrome | Bare Lymphocyte Syndrome Type 2 |
| Bartter Syndrome Type 4A | Beta-Hexosaminidase Pseudodeficiency | Beta-Ketothiolase Deficiency |
| Beta Thalassemia | Biotinidase Deficiency | Bloom Syndrome |
| Canvan Disease | CPT 1 and 2 Deficiency | CHH Syndrome |
| CTX1 and CTX2 | CESD | CGD |
| Choroideremia | Citrullinemia Type 1 | Congenital Disorder of Glycosylation Type (1A, 1B, 1C) |
| Lipoid CAH | Severe Congenital Neutropenia | CDPD Syndrome |
| CMO Deficiency | Creatine Transporter Defect | Gilbert Syndrome Type 1 |
| Cystinosis | DBP Deficiency | Permanent Neonatal Diabetes Mellitus |
| DPD Deficiency | Du Pan Syndrome | DEB Recessive |
| Dermatosparaxis EDS | EDMD | ESCS |
| EMA | Chondroectodermal Dysplasia | Fabry’s Disease |
| Hemophillia A and B | Riley-Day Syndrome | Familial Hyperinsulinism Type (1,2) |
| FMF and FMF Mild | FANCC | Fragile X Syndrome |
| Fumaease Deficiency | Galactosemia Deficiency | Gaucher Disease Type (1,2,3) |
| Gitelamn Syndrome | Krabbe Disease | G6PD Deficiency |
| GA1 | Glycine Encephalopathy | Glycogen Storage Disease Type (1,2,3,4,5,6) |
| GM1-Gangliosidosis | GRACILE Syndrome | GAMT Deficiency |
| Hemochromatosis Type (1,2A,3) | Hemoglobinopathy Hb (C,D,E,O) | Hereditary Fructose Intolerance |
| Herlitz Junctional Epidermolysis Bullosa | Hypophosphatasia | Hurler Syndrome |
| Hunter Syndrome | Homocystinuria Caused by CBS Deficiency | X-Linked Hypohidrotic Ectodermal Dysplasia |
| Inclusion Body Myopathy Type 2 | Isovaleric Acidemia | Joubert Syndrome |
| X-Linked Juvenile Retinoschisis | Laryngoonychocutaneous Syndrome | Leber Amaurosis |
| Leigh Syndrome | Limb-Girdle Muscular Dystrophy Type (D,E,I) | Lipoprotein Lipase Deficiency |
| LCHAD Deficiency | Leydig Cell Hypoplasia | Maple Syrup Urine Disease Type (1A,1B,3) |
| MCAD Deficiency | Methylmalonic Acidemia | Metachromatic Leukodystrphy |
| Mucolipidosis Type (2,4) | Myotubular Myopathy | Nemaline Myopathy |
| Spinal Muscular Atrophy | Stuve-Wiedemann Syndrome | Neuronal Ceroid-Lipofuscinosis |
| Niemann-Pick Disease | Nijmegen Breakage Syndrome | Ornithine Transcarbamylase Deficiency |
| Pendred Syndrome | Phenylketonuria | Primary Hyperoxaluria Type (1,2,3) |
| Propionic Acidemia | Pseudocholinesterase Difeciency | Pycnodysostosis |
| Pyruvate Dehydrogenase Deficiency | Retinitis Pigmentosa | Usher Syndrome |
| Salla Disease | Sandhoff Disease | Sickle-Cell Anemia |
| Wilson Disease | Zellweger Spectrum Disorder |
PGD gives hope to families with a history of inherited conditions by allowing the selection of embryos that are free from specific genetic disorders. If you or your partner are carriers of a genetic condition, consulting with a fertility specialist about PGD might be an important step in your family planning journey.
For free consultation please contact with us
