Examples of Conditions that PGD may detect

Below is a table that contains numerous conditions that might be detected by PGD. The list is drawn from the conditions licensed by the Human Fertilisation and Embryology Authority, in the United Kingdom. 1 It illustrates just how many diseases/conditions it is now possible to detect using PGD.

Note however, the list may not include all conditions that may be detected by PGD. Nor does it reflect how common such screening is for each condition listed. PGD is usually used in the context of ART and is expensive. Some screening for certain conditions would be more common than others. 2

Note conditions marked with an * are those in which PGD may be used for cases involving HLA tissue typing.

TABLE: Examples of conditions that may be detected using PGD

Achondroplasia Acute Intermittent Porphyria Acute Recurrent Autosomal Recessive Rhabdomyolysis
Adrenoleukodystrophy (Adrenomyeloneuropathy) Agammaglobulinaemia (x-linked) Agammaglobulinemia Bruton Tyrosine Kinase (BTK)
Aicardi Goutieres Syndrome 1 (AGS1) Alagille Syndrome Alpers Syndrome
Alpha Thalassaemia/mental retardation Syndrome* Alpha Thalassemia Alpha-1-antitrypsin deficiency
Alpha-Mannosidosis Alports Syndrome Alzheimers Disease – early onset
Amyotrophic Lateral Sclerosis 1 (ALS1) Anderson Fabry Disease Androgen Insensitivity Syndrome
Angelman Syndrome (UBE3A gene only) Aplastic anaemia – severe* Argininosuccinic Aciduria
Arrhythmogenic Right Ventricular Cardiomyopathy/ Dysplasia (ARVC/D), Autosomal Dominant Ataxia Telangiectasia Autosomal Dominant Acute Necrotizing Encephalopathy
Autosomal Dominant Polycystic Kidney Disease (ADPKD) Autosomal Dominant Retinitis Pigmentosa Autosomal Recessive Dopa Responsive Dystonia
Autosomal Recessive Severe Combined Immunodeficiency with Bilateral Sensorineural Deafness (ARSCIDBSD) Bardet-Biedl Syndrome (BBS) Barth Syndrome
Battens Disease (infantile) Beta Hydroxyisobutyryl CoA Hydrolase Deficiency (Methacrylic Aciduria) Beta Thalassaemia*
Bethlem Myopathy Bilateral Frontoparietal Polymicrogyria Birt-Hogg-Dubé Syndrome
Branchio-Oto-Renal Syndrome (BOR) BRCA 1 (increased susceptibility to breast cancer) Breast Ovarian Cancer Familial Susceptibility (BRCA2)
Calpainopathy Canavan Disease Cardiac Valvular Dysplasia
Carney Complex Carnitine Acylcarnitine Translocase Deficiency (CACT) Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT1 and CPVT2)
Central Core Disease of Muscle (CCD) Cerebral Autosomal Dominant Arteriopathy with Sub cortical infarcts and Leukoencephalopathy (CADASIL) Cerebral Cavernous Malformations (CCM)
Charcot Marie Tooth Disease CHARGE Syndrome Chondrodysplasia Punctata
Choroideraemia Chromosomal rearrangements (various) Chronic Granulomatous Disease (CGD)
Citrullinaemia type 1 Classical Ehlers Danlos Syndrome Coffin-Lowry Syndrome
Cohen Syndrome Congenital Adrenal Hyperplasia (21 hydroxylase deficiency) Congenital Disorder of Glycosylation type 1a
Congenital Fibrosis of the extraocular muscles Congenital Myasthenic Syndrome (COLQ gene 603033) (Type Ic) Congenital Secretory Chloride Diarrhoea
Congenital stationary night blindness Conradi-Hunermann-Happle Syndrome Cowden syndrome (CS)/PTEN Hamartoma Tumour Syndrome (PHTS)
Craniofrontal Dysplasia Crouzon Syndrome Cystic Fibrosis
Cystinosis Czech Dysplasia, metatarsal type also known as Progressive pseudorheumatoid dysplasia with hypoplastic toes Dentatorubral-Pallidoluysian Atrophy (DRPLA)
Desbuquois Dysplasia (DBQD) Diamond Blackfan Anaemia* Diarrheoa 5 with tufting enteropathy congenital
Distal Hereditary Motor Neuropathy type IIB Dominant Dystrophic Epidermolysis Bullosa Donohue Syndrome
Downs Syndrome Dravet Syndrome Dyskeratosis congenita (Male embryos only)
Dystonia 1 Torsion Autosomal Dominant (DYT1) Ectodermal dysplasia (Hypohidrotic) Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome (EEC)
Ehlers-Danlos Type IV Elastin (ELN)-related Supravalvular Aortic Stenosis Ellis-Van Crevald Syndrome
Emery-Dreifuss Muscular Dystrophy (x-linked) (EDMD) (Male embryos only) Epilepsy, female restricted, with mental retardation (EFMR) Episodic Ataxia Type 2
Facioscapulohumeral Dystrophy (FSH) Factor XIII deficiency Familial Adenomatous polyposis coli (FAP)
Familial Dilated Cardiomyopathy caused by mutations in TROPONIN T2 gene (TNNT2) Familial Dysautonomia Familial Hemophagocytic Lymphohistiocytosis (FHL)
Familial Hemophagocytic Lymphohistiocytosis 5 Familial Hypertrophic Cardiomyopathy 4 (CMH4) Familial Paranganglioma Syndrome (PGL1)
Fanconis Anaemia A* Fanconis Anaemia C* Fragile X Syndrome (FRAX)
Fraser Syndrome FRAXE Fried Syndrome
Frontotemporal Dementia Galactosialidosis (early infantile and adult/ juvenile types) Gangliosidosis (GM1)
Gaucher Disease Type II Gaucher Disease Type III Glutaric Acidemia (aciduria)
Glycogen Storage Disease II (Pompe Disease (early onset)) Glycogen Storage Disease Type Ia Gonadal mosaicism
Gorlin Syndrome Greig Cephalopolysyndactyly Haemophilia A
Haemophilia B Hereditary diffuse gastric cancer Hereditary Haemorrhagic Telangiectasia (HTT) or Rendu-Osler-Weber Syndrome
Hereditary Multiple Exostoses Type II Hereditary Nonpolyposis Colorectal Cancer: Lynch Syndrome (for all subtypes) Holt Oram Syndrome
Homocystinuria Homozygous familial hypercholesterolaemia Huntington Disease (Huntington Chorea)
Hydrocephalus Hydroxyisobuyryl CoA Hydrolase Deficiency Hyper IgM Syndrome – Hypogammaglobulinaemia*
Hyper-IgE Recurrent Infection Syndrome, Autosomal Dominant Hyperphosphatasia with Mental Retardation Syndrome 4 (HPMRS4) Hypochondroplasia
Hypophosphatasia (Infantile/perinatal lethal) Hypophosphatemic Rickets (x-linked dominant) (Xlh) Hypospadias (severe)
Ichthyosis (Harlequin) Ichthyosis (x-linked) Idiopathic Arterial Calcification of Infancy
Incontinentia Pigmenti (IP) Infantile Neuroaxonal Dystrophy 1 Inflammatory Bowel Disease, Early-onset (IBD28)
IPEX Syndrome (Immunodeficiency, Polyendocrinopathy and Enteropathy, X-Linked) Juvenile Polyposis Syndrome Kearns Sayre Syndrome (KSS)/ Pearsons Marrow-Pancreas Syndrome (PMPS)
Krabbe Disease L–2-Hydroxyglutaric aciduria Leber Congenital Amaurosis (LCA)
Leber’s Hereditary Optic Neuropathy (LHON) / Lebers Optic atrophy Leigh Syndrome (Infantile Subacute Necrotising Encephalopathy) Leigh’s (subacute necrotising encephalopathy of childhood)
Lenz Syndrome Lesch Nyan Syndrome Lethal Multiple Pterygium Syndrome (LMPS)
Leukocyte Adhesion Deficiency (Type I)* Leukoencephalopathy with Vanishing White Matter Li-Fraumeni Syndrome
Long Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD) Long QT Syndrome Types 1, 2, 3, 5 & 6 Lowe Oculocerebrorenal Syndrome
Lymphoproliferative Syndrome Macular Dystrophy (childhood onset – variant of Retinitis pigmentosa) Macular Dystrophy Retinal 2
Malignant Infantile Osteopetrosis Maple Syrup Urine Disorder (MSUD) Marfan Syndrome
Meckel-Gruber Syndrome Types 1, 2, 3, 4, 5, 6, 7, 8, 9, 10 and 11 Medium-chain acyl-Co A dehydrogenase Medium-Chain Acyl-CoA Dehydrogenase Deficiency
MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like episodes) Menkes Syndrome Metachromatic Leukodystrophy
Methylmalonic Aciduria and Homocystinuria Micro Syndrome (WARBM) Mitochodrial Trifunctional Protein Deficiency
Mitochondrial DNA Depletion Syndrome 2 (myopathic type) Mucolipidosis type II Mucopolysaccharidosis III (MPS-III) Type B
Mucopolysaccharidosis III (MPS-III) Type C Mucopolysaccharidosis III (MPS-III) Type D Mucopolysaccharidosis Type I (MPS I)
Mucopolysaccharidosis Type II (Hunter Syndrome) Mucopolysaccharidosis Type III A (Sanfilippo syndrome A) Mucopolysaccharidosis Type VI (MPS VI) (Maroteaux-Lamy Syndrome)
Muenke Syndrome Multiple acyl-CoA dehydrogenase deficiency (MADD) (also known as glutaric aciduria type II) Multiple Endocrine Neoplasia Type 2A (MEN 2A)
Multiple Endocrine Neoplasia type 2B (MEN 2B) Multiple Endocrine Neoplasia Type I Multiple Epiphyseal Dysplasia Type 5 (MED5)
Multiple Exostoses Multiple Lentigines Syndrome (LEOPARD Syndrome) Multiple Pterygium Syndrome Lethal Form(LMPS)
Muscle-Eye-Brain Disease Muscular Dystrophy (Beckers) Muscular Dystrophy (Duchenne)
Muscular Dystrophy (Oculopharangeal) Muscular dystrophy, Limb-Girdle (LGMD) Type 1B Muscular Dystrophy-dystroglycanopathy Type A5
Myoclonic Epilepsy and Ragged Red Fibres (MERRF) Myotonic Dystrophy Myotubular myopathy
Nail-Patella Syndrome Nance-Horan Syndrome Nephrogenic Diabetes Insipidus (NDI)
Neurofibromatosis type 1 Neurofibromatosis Type 2 Neurogenic muscle weakness, Ataxia, Retinitis Pigmentosa (NARP)
Niemann Pick Disease Type A Niemann Pick Disease Type C Non-Ketotic Hyperglycinaemia (NKH)/ Glycine Encephalopathy (GCE)
Noonan Syndrome Norrie Disease Oculocutaneous Albinism Type 1A
Oculocutaneous Albinism Type 1B Omenn Syndrome Optic Atrophy 1
Ornithine carbamoyltransferase Deficiency (OTC) Ornithine transcarbamylase deficiency (OTD) Osteogenesis Imperfecta type 1A
Osteogenesis Imperfecta Type II Osteogenesis Imperfecta Type III Osteogenesis Imperfecta type IV , type V , type VI
Osteogenesis Imperfecta Type VIII Osteogenesis Imperfecta Type1 (OI1) Osteopetrosis with Renal Tubular Acidosis (OPTB3)
Osteopetrosis, Autosomal Recessive 5 (OPTB5) and Osteopetrosis, Infantile Malignant 3 Ostheopathia Striata with Cranial Sclerosis (OSCS) Otopalatodigital syndrome Type 2
Pachyonychia Congenita Type 1 Paragangliomas 4 (plg 4) Partial Lipodystrophy, Familial Type 2
Pelizaeus Merzbacher Disease Pendred Syndrome Peroxisome Biogenesis Disorders (PBD) (Zellweger Syndrome Spectrum (ZSS))
Phenylketonuria (PKU) Plakophilin 1 (PKP1) associated ectodermal dysplasia syndrome Polycystic kidney disease
Pontocerebellar Hypoplasia type 1a, type 2a, type 2b, type 2c, type 2d , type 3, type 4, type 6 Pontocerebellar Hypoplasia type 1B (PCH1B) Popliteal Pterigum Syndrome 119500
Prader Willi Syndrome 176270 Progressive Familial Intrahepatic Cholestasis Type 1 (PFIC1) Propionic Acidemia
Pseudoachondroplasia Pseudohypoparathyroidism (PHP1a) Pyrodoxine-dependent seizures
Pyruvate Dehydrogenase E1-beta Deficiency Recessive Dystrophic Epidermolysis Bullosa* (Halleau-Siemens & Herlitz junctional) various Recurrent Digynic Triploidy
Recurrent hydatitiform mole (HYDM1) Renal Coloboma Syndrome Renal Cysts and Diabetes (RCAD) Renal Cysts and Diabetes (RCAD)
Retinitis Pigmentosa (autosomal dominant) Retinitis Pigmentosa (RP3) (x-linked) Retinitis Pigmentosa (x-linked)
Retinitis Pigmentosa Type 11 (RP11) Retinitis Pigmentosa type 7 Retinoblastoma
Retinoschisis (Juvenile) Rett Syndrome (RTT) and Neonatal Encephalopathy Rhesus disease/ Haemolytic Disease of the Newborn (HDN)
Rothmund-Thomson Syndrome (RTS) Saethre-Chotzen Syndrome (SCS) Sandhoff Disease
Sanjad Sakati Syndrome (SLSN6) Senior Loken Syndrome 6 Sensorineural deafness – autosomal recessive non-syndromic
Severe Combined Immune Deficiency (x-linked) Severe Combined Immunodeficiency – autosomal recessive Severe Combined Immunodeficiency (SCID)
Severe Combined Immunodeficiency (SCID) (Adenosine Deaminase (ADA) deficient) Sickle Cell Anaemia* Simpson Golabi Behmel Syndrome Type 1 (to detect affected males)
Smith Lemli Opitz Syndrome (SLO) Sotos Syndrome Spastic paraplegia
Spinal and Bulbar Muscular Atrophy X-linked (Kennedy disease) (in affected males embryos) Spinal Muscular Atrophy (SMA1) Spinal Muscular Atrophy and Respiratory Distress (SMARD1)
Spinocerebellar Ataxia 7 (SCA 7) Spinocerebellar Ataxia Type 1 (SCA1) Spinocerebellar Ataxia Type 2 (SCA2)
Spinocerebellar Ataxia Type 3 (SCA 3) (Machado Joseph Disease) Spinocerebellar Ataxia Type 6 (SCA6) Spondyloepiphyseal Dysplasia Congenita
Stickler Syndrome Type I, II, III and IV Stuve-Wiedemann Syndrome (Schwartz-Jampel Type 2 syndrome) Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD)
Surfactant Metabolism Dysfunction, Pulmonary 1 (SMDP1) Surfactant Metabolism Dysfunction, Pulmonary, type 2 Tay Sachs Disease (infantile onset)
Townes-Brocks Syndrome Treacher Collins Syndrome Treacher Collins Syndrome Type 2 (TCS2)
Trichothiodystrophy Tuberous Sclerosis (TSC1 and TSC2) 191100, Turner’s syndrome (Mosaic)
Tyrosinaemia Type 1 Ullrich Congenital Muscular Dystrophy (UCMD) Von Hippel Lindau (VHL) Syndrome
Waardenburg Syndrome Type I Waardenburg Syndrome Type IIa Waardenburg Syndrome Type IId
Waardenburg Syndrome Type IIe Waardenburg Syndrome Type III Waardenburg Syndrome Type IVa
Waardenburg Syndrome Type IVb Waardenburg Syndrome Type IVc Walker Warburg Syndrome (Muscular dystrophy dystroglycanopathy)
Wiscott-Aldrich Syndrome* Wolcott-Rallison Syndrome Wolman’s Disease (Acid Lipase Deficiency)
X Linked Periventricular Heterotopia X-Linked Lymphoproliferative Disease Type 2 (XLP2) (Male Embryos Only) X-Linked Opitz G / BBB Syndrome
X-Linked Thrombocytopenia (XLT)


  1. Human Fertilisation and Embryology Authority United Kindgom at https://www.hfea.gov.uk/treatments/embryo-testing-and-treatments-for-disease/approved-pgd-and-ptt-conditions/.
  2. Sonia Allan and Meredith Blake, The Patient and Practitioner: Health Law and Ethics in Australia (2014) Lexis Nexis, p 392.