People with Known Genetic Disease

Having a Healthy Child & Preventing Genetic Diseases in Future Generations

Knowledge is Power

Aspire Houston Fertility Institute is a world leader in helping patients with known genetic diseases explore their options for starting a family. Advances in assisted reproductive technology have empowered physicians and patients by giving them the ability to prevent the transmission of genetic diseases to future generations by combining in vitro fertilization (IVF) with preimplantation genetic diagnosis (PGT).

Whether the issue at hand is a severe case of breast cancer in multiple female relatives (BRCA mutations) or both partners healthy carriers of recessive disease (such as sickle cell or cystic fibrosis), we can help potential parents learn about their options for having an unaffected child. Our providers have helped hundreds of couples grow healthy families. Below is a partial list of conditions that we can identify in embryos:

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
Chronic Granulomatous Disease
Ciliary Dyskinesia
Citrullinemia
Cleidocranial Dysplasia
Cockayne Syndrome
Congenital Adrenal Hyperplasia
Congenital Cataracts
Congenital Diarrhea, Syndromic
Congenital Disorders of Glycosylation (CDG)
Cornelia de Lange Syndrome
Craniosynostosis
Crouzon Syndrome
Cysteinyl Leukotriene Receptor 1 Deficiency
Cystic Fibrosis

D

D-Bifunctional Protein Deficiency
Darier Disease
Deafness, Autosomal Recessive
Dentinogenesis Imperfecta
Denys-Drash Syndrom
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
Fragile X Syndrome

G

Galactosemia
Gaucher Disease
Gerstman-Straussler Disease
Glutaricaciduria
Gluteric Acidemia
Glycogen Storage Disease
GM1-Gangliosidosis
Greig Cephalopolysyndactyly Syndrome

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
cxiii. 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 Diseas

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


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