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

AchondroplasiaAcute Intermittent PorphyriaAcute Recurrent Autosomal Recessive Rhabdomyolysis
Adrenoleukodystrophy (Adrenomyeloneuropathy)Agammaglobulinaemia (x-linked)Agammaglobulinemia Bruton Tyrosine Kinase (BTK)
Aicardi Goutieres Syndrome 1 (AGS1)Alagille SyndromeAlpers Syndrome
Alpha Thalassaemia/mental retardation Syndrome*Alpha ThalassemiaAlpha-1-antitrypsin deficiency
Alpha-MannosidosisAlports SyndromeAlzheimers Disease – early onset
Amyotrophic Lateral Sclerosis 1 (ALS1)Anderson Fabry DiseaseAndrogen Insensitivity Syndrome
Angelman Syndrome (UBE3A gene only)Aplastic anaemia – severe*Argininosuccinic Aciduria
Arrhythmogenic Right Ventricular Cardiomyopathy/ Dysplasia (ARVC/D), Autosomal DominantAtaxia TelangiectasiaAutosomal Dominant Acute Necrotizing Encephalopathy
Autosomal Dominant Polycystic Kidney Disease (ADPKD)Autosomal Dominant Retinitis PigmentosaAutosomal 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 MyopathyBilateral Frontoparietal PolymicrogyriaBirt-Hogg-Dubé Syndrome
Branchio-Oto-Renal Syndrome (BOR)BRCA 1 (increased susceptibility to breast cancer)Breast Ovarian Cancer Familial Susceptibility (BRCA2)
CalpainopathyCanavan DiseaseCardiac Valvular Dysplasia
Carney ComplexCarnitine 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 DiseaseCHARGE SyndromeChondrodysplasia Punctata
ChoroideraemiaChromosomal rearrangements (various)Chronic Granulomatous Disease (CGD)
Citrullinaemia type 1Classical Ehlers Danlos SyndromeCoffin-Lowry Syndrome
Cohen SyndromeCongenital Adrenal Hyperplasia (21 hydroxylase deficiency)Congenital Disorder of Glycosylation type 1a
Congenital Fibrosis of the extraocular musclesCongenital Myasthenic Syndrome (COLQ gene 603033) (Type Ic)Congenital Secretory Chloride Diarrhoea
Congenital stationary night blindnessConradi-Hunermann-Happle SyndromeCowden syndrome (CS)/PTEN Hamartoma Tumour Syndrome (PHTS)
Craniofrontal DysplasiaCrouzon SyndromeCystic Fibrosis
CystinosisCzech Dysplasia, metatarsal type also known as Progressive pseudorheumatoid dysplasia with hypoplastic toesDentatorubral-Pallidoluysian Atrophy (DRPLA)
Desbuquois Dysplasia (DBQD)Diamond Blackfan Anaemia*Diarrheoa 5 with tufting enteropathy congenital
Distal Hereditary Motor Neuropathy type IIBDominant Dystrophic Epidermolysis BullosaDonohue Syndrome
Downs SyndromeDravet SyndromeDyskeratosis congenita (Male embryos only)
Dystonia 1 Torsion Autosomal Dominant (DYT1)Ectodermal dysplasia (Hypohidrotic)Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome (EEC)
Ehlers-Danlos Type IVElastin (ELN)-related Supravalvular Aortic StenosisEllis-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 deficiencyFamilial Adenomatous polyposis coli (FAP)
Familial Dilated Cardiomyopathy caused by mutations in TROPONIN T2 gene (TNNT2)Familial DysautonomiaFamilial Hemophagocytic Lymphohistiocytosis (FHL)
Familial Hemophagocytic Lymphohistiocytosis 5Familial Hypertrophic Cardiomyopathy 4 (CMH4)Familial Paranganglioma Syndrome (PGL1)
Fanconis Anaemia A*Fanconis Anaemia C*Fragile X Syndrome (FRAX)
Fraser SyndromeFRAXEFried Syndrome
Frontotemporal DementiaGalactosialidosis (early infantile and adult/ juvenile types)Gangliosidosis (GM1)
Gaucher Disease Type IIGaucher Disease Type IIIGlutaric Acidemia (aciduria)
Glycogen Storage Disease II (Pompe Disease (early onset))Glycogen Storage Disease Type IaGonadal mosaicism
Gorlin SyndromeGreig CephalopolysyndactylyHaemophilia A
Haemophilia BHereditary diffuse gastric cancerHereditary Haemorrhagic Telangiectasia (HTT) or Rendu-Osler-Weber Syndrome
Hereditary Multiple Exostoses Type IIHereditary Nonpolyposis Colorectal Cancer: Lynch Syndrome (for all subtypes)Holt Oram Syndrome
HomocystinuriaHomozygous familial hypercholesterolaemiaHuntington Disease (Huntington Chorea)
HydrocephalusHydroxyisobuyryl CoA Hydrolase DeficiencyHyper IgM Syndrome – Hypogammaglobulinaemia*
Hyper-IgE Recurrent Infection Syndrome, Autosomal DominantHyperphosphatasia 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 1Inflammatory Bowel Disease, Early-onset (IBD28)
IPEX Syndrome (Immunodeficiency, Polyendocrinopathy and Enteropathy, X-Linked)Juvenile Polyposis SyndromeKearns Sayre Syndrome (KSS)/ Pearsons Marrow-Pancreas Syndrome (PMPS)
Krabbe DiseaseL–2-Hydroxyglutaric aciduriaLeber Congenital Amaurosis (LCA)
Leber’s Hereditary Optic Neuropathy (LHON) / Lebers Optic atrophyLeigh Syndrome (Infantile Subacute Necrotising Encephalopathy)Leigh’s (subacute necrotising encephalopathy of childhood)
Lenz SyndromeLesch Nyan SyndromeLethal Multiple Pterygium Syndrome (LMPS)
Leukocyte Adhesion Deficiency (Type I)*Leukoencephalopathy with Vanishing White MatterLi-Fraumeni Syndrome
Long Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD)Long QT Syndrome Types 1, 2, 3, 5 & 6Lowe Oculocerebrorenal Syndrome
Lymphoproliferative SyndromeMacular Dystrophy (childhood onset – variant of Retinitis pigmentosa)Macular Dystrophy Retinal 2
Malignant Infantile OsteopetrosisMaple Syrup Urine Disorder (MSUD)Marfan Syndrome
Meckel-Gruber Syndrome Types 1, 2, 3, 4, 5, 6, 7, 8, 9, 10 and 11Medium-chain acyl-Co A dehydrogenaseMedium-Chain Acyl-CoA Dehydrogenase Deficiency
MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like episodes)Menkes SyndromeMetachromatic Leukodystrophy
Methylmalonic Aciduria and HomocystinuriaMicro Syndrome (WARBM)Mitochodrial Trifunctional Protein Deficiency
Mitochondrial DNA Depletion Syndrome 2 (myopathic type)Mucolipidosis type IIMucopolysaccharidosis III (MPS-III) Type B
Mucopolysaccharidosis III (MPS-III) Type CMucopolysaccharidosis III (MPS-III) Type DMucopolysaccharidosis 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 SyndromeMultiple 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 IMultiple Epiphyseal Dysplasia Type 5 (MED5)
Multiple ExostosesMultiple Lentigines Syndrome (LEOPARD Syndrome)Multiple Pterygium Syndrome Lethal Form(LMPS)
Muscle-Eye-Brain DiseaseMuscular Dystrophy (Beckers)Muscular Dystrophy (Duchenne)
Muscular Dystrophy (Oculopharangeal)Muscular dystrophy, Limb-Girdle (LGMD) Type 1BMuscular Dystrophy-dystroglycanopathy Type A5
Myoclonic Epilepsy and Ragged Red Fibres (MERRF)Myotonic DystrophyMyotubular myopathy
Nail-Patella SyndromeNance-Horan SyndromeNephrogenic Diabetes Insipidus (NDI)
Neurofibromatosis type 1Neurofibromatosis Type 2Neurogenic muscle weakness, Ataxia, Retinitis Pigmentosa (NARP)
Niemann Pick Disease Type ANiemann Pick Disease Type CNon-Ketotic Hyperglycinaemia (NKH)/ Glycine Encephalopathy (GCE)
Noonan SyndromeNorrie DiseaseOculocutaneous Albinism Type 1A
Oculocutaneous Albinism Type 1BOmenn SyndromeOptic Atrophy 1
Ornithine carbamoyltransferase Deficiency (OTC)Ornithine transcarbamylase deficiency (OTD)Osteogenesis Imperfecta type 1A
Osteogenesis Imperfecta Type IIOsteogenesis Imperfecta Type IIIOsteogenesis Imperfecta type IV , type V , type VI
Osteogenesis Imperfecta Type VIIIOsteogenesis Imperfecta Type1 (OI1)Osteopetrosis with Renal Tubular Acidosis (OPTB3)
Osteopetrosis, Autosomal Recessive 5 (OPTB5) and Osteopetrosis, Infantile Malignant 3Ostheopathia Striata with Cranial Sclerosis (OSCS)Otopalatodigital syndrome Type 2
Pachyonychia Congenita Type 1Paragangliomas 4 (plg 4)Partial Lipodystrophy, Familial Type 2
Pelizaeus Merzbacher DiseasePendred SyndromePeroxisome Biogenesis Disorders (PBD) (Zellweger Syndrome Spectrum (ZSS))
Phenylketonuria (PKU)Plakophilin 1 (PKP1) associated ectodermal dysplasia syndromePolycystic kidney disease
Pontocerebellar Hypoplasia type 1a, type 2a, type 2b, type 2c, type 2d , type 3, type 4, type 6Pontocerebellar Hypoplasia type 1B (PCH1B)Popliteal Pterigum Syndrome 119500
Prader Willi Syndrome 176270Progressive Familial Intrahepatic Cholestasis Type 1 (PFIC1)Propionic Acidemia
PseudoachondroplasiaPseudohypoparathyroidism (PHP1a)Pyrodoxine-dependent seizures
Pyruvate Dehydrogenase E1-beta DeficiencyRecessive Dystrophic Epidermolysis Bullosa* (Halleau-Siemens & Herlitz junctional) variousRecurrent Digynic Triploidy
Recurrent hydatitiform mole (HYDM1)Renal Coloboma SyndromeRenal 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 7Retinoblastoma
Retinoschisis (Juvenile)Rett Syndrome (RTT) and Neonatal EncephalopathyRhesus disease/ Haemolytic Disease of the Newborn (HDN)
Rothmund-Thomson Syndrome (RTS)Saethre-Chotzen Syndrome (SCS)Sandhoff Disease
Sanjad Sakati Syndrome (SLSN6)Senior Loken Syndrome 6Sensorineural deafness – autosomal recessive non-syndromic
Severe Combined Immune Deficiency (x-linked)Severe Combined Immunodeficiency – autosomal recessiveSevere 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 SyndromeSpastic 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 IVStuve-Wiedemann Syndrome (Schwartz-Jampel Type 2 syndrome)Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD)
Surfactant Metabolism Dysfunction, Pulmonary 1 (SMDP1)Surfactant Metabolism Dysfunction, Pulmonary, type 2Tay Sachs Disease (infantile onset)
Townes-Brocks SyndromeTreacher Collins SyndromeTreacher Collins Syndrome Type 2 (TCS2)
TrichothiodystrophyTuberous Sclerosis (TSC1 and TSC2) 191100,Turner’s syndrome (Mosaic)
Tyrosinaemia Type 1Ullrich Congenital Muscular Dystrophy (UCMD)Von Hippel Lindau (VHL) Syndrome
Waardenburg Syndrome Type IWaardenburg Syndrome Type IIaWaardenburg Syndrome Type IId
Waardenburg Syndrome Type IIeWaardenburg Syndrome Type IIIWaardenburg Syndrome Type IVa
Waardenburg Syndrome Type IVbWaardenburg Syndrome Type IVcWalker Warburg Syndrome (Muscular dystrophy dystroglycanopathy)
Wiscott-Aldrich Syndrome*Wolcott-Rallison SyndromeWolman’s Disease (Acid Lipase Deficiency)
X Linked Periventricular HeterotopiaX-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.