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. At New Hope Fertility Clinic of NYC 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.

The team of NYC fertility specialists and best infertility doctors leading by Dr. John Zhang are among the best in the region. Top fertility doctor in NYC, John Zhang MD has been recognized as a world’s leader in his more gentle approach to assisted reproductive technology (ART), minimal stimulation IVF (Mini-IVF) and natural cycle IVF as well as latest IVF. Our fertility center named the Top Clinic of 2017 and is on top of the Forbes list of the best ivf clinics in NYC and in USA.

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