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Preimplantation Genetic Diagnosis (PGD)

With the development of in vitro fertilization and assisted reproductive techniques, it has become possible to genetically analyze embryos created by these methods before pregnancy is achieved.

The process of transferring healthy embryos by testing the gene or chromosomal disorder that causes the disease before pregnancy occurs is called "preimplantation genetic diagnosis" or "preimplantation genetic diagnosis (PGD)".

PGTi can be examined under three headings in general.

Aneuploidy / Translocation Analysis with Fish

  • Numerical Chromosome Anomaly (13, 18, 21, X, Y)
  • Structural Chromosome Anomaly (Translocations) Reciprocal and Robertsonian
  • It is frequently used in recurrent baby losses and IVF failures, in vitro fertilization treatments for women over 40 years of age

PGD – Single Gene Disease

  • ADA Adenosine Deaminase
  • Adrenoleukodystrophy
  • Familial Adenomatous Polyposis
  • Alpha Thalassemia
  • Beta Thalassemia
  • Charcot-Marie-Tooth (CMT1A, CMT1B, CMT2E, CMTX1)
  • Diamond-Blackfan Anemia
  • Duchene/Becker Muscular Dystrophy (DMD/BMD)
  • Fanconi Anemia (FANCA, FANCC, FANCF, FANCJ)
  • Fragile-X Syndrome
  • Freidrich Ataxia
  • Gaucher's Disease
  • Hamophilia A
  • Hamophilia B
  • Hereditary Nonpolyposis Colorectal Cancer Type 1-2
  • Hyper IgM Immune Deficiency
  • Hungtington's Disease
  • Cystic Fibrosis
  • Congenital Deafness (Connexin 26)
  • Krabbe Disease
  • MetaChromatic Leukodystrophy
  • Myotonic Dystrophy
  • Mucopolysaccharidosis Type1-2
  • Multiple Exocytosis Type 1
  • Sickle Cell Anemia
  • Osteogenesis Imperfecta
  • Osteopetrosis – Malignant Infantile Type
  • Polycystic Kidney Disease (PKD1, PKD2, ARPKD)
  • Preimplantation HLA Typing
  • Retinoblastoma
  • Rett Syndrome
  • Citrullinemi
  • Spinal Muscular Atrophy (SMA)
  • Spinocerebellar Ataxia (SCA1, SCA2, SCA3, SCA6, SCA7)
  • Tay-Sachs Disease
  • Tuber Sclerosis Complex (TSC1, TSC2)
  • Wiskott-Aldrich Syndrome

HLA Typing

In recent years, Preimplantation Genetic Diagnosis has enabled couples with genetic diseases to have healthy children, as well as genetic origin (b thalassemia, Sickle Cell Anemia, Fanconi Anemia, Wiscott-Aldrich Syndrome, Diamond Blackfan Anemia, Gaucher Disease, Alpha Mannosidosis, Adrenoleukodystrophy, SCID) or non-genetic origin (Acute Lymphoblastic Leukemia, Chronic Lymphocytic Leukemia, Aplastic Anemia) has become a serious option for the treatment of children. While having a healthy child is an important opportunity for these families, PGD also offers the option of the child to be born to be tissue compatible with the sick sibling. Stem cells taken from a healthy and tissue compatible sibling born in this way are transplanted to the sick sibling and treated.

We successfully apply genetic-based treatment options in our center through genetic laboratories.