What Can Be Achieved with Genetic Diagnosis in IVF?


Genetic Diagnosis Technology

What Can Be Achieved with Genetic Diagnosis in IVF?

Today, advances in IVF and genetics are advancing rapidly, aiming at the selection of not only healthy but also perfect embryos. This method, called Preimplantation Genetic Diagnosis (PGD), was used for the first time in the world in 1989 in England by applying the PCR method to distinguish an inherited disease.

Since 1989, it has been possible to examine all chromosomes in a much shorter time than in the past, with rapidly advancing gene technology and IVF methods. In the beginning, examinations at the cell level have been replaced by examination methods that go down to the molecular level. In the past, methods that required a long time waiting for results by freezing embryos were used, but nowadays, results are obtained in as short as 12-24 hours by using new molecular methods such as Array Comparative Genetic Hybridization (aCGH) and NGS, which detect changes in the amount of DNA. Today, all 23 pairs of chromosomes can be screened with comprehensive chromosome analysis.

All these developments have made it easier for couples with advanced age and multiple IVF failures to have healthy children.

In the past, biopsies taken in the early embryonic period have been replaced by trophectoderm biopsies taken on the 5th day today. With this method, which is less likely to harm embryo development, more reliable results are obtained in a short time and the margin of error is less.

PGT Recommended Situations;

  • Couples with a genetic or hereditary disease
  • Couples who have previously had children with genetic diseases
  • Couples who want a child who can be a donor with appropriate tissue typing for their sick child. (For treatment for a sibling who may be a bone marrow or blood donor in diseases such as thalassemia, some leukemias, etc.)
  • To obtain a healthy pregnancy due to the susceptibility to genetic diseases.
  • Those with chromosomal abnormality or a previous pregnancy history with chromosomal abnormality,
  • Recurrent pregnancy losses
  • Despite good embryo transfer, in the presence of more than two IVF failures
  • If the mother's age is over 37, the possibility of chromosomal structure and number abnormality will increase, so choosing an embryo with a normal chromosomal structure (Euploid) with PGD increases the success of IVF.

Since embryos with chromosome number disorders (aneuploidy) cannot adhere to the uterine wall, pregnancy does not occur or results in miscarriage. This is a kind of self-preservation mechanism of nature. Without this mechanism, the proportion of children born with disabilities would be much higher than it is now. Recognition of anomalies such as (Trisomy21), Down syndrome, (Trisomy 18) Edward's syndrome and (Trisomy 13) Patau syndrome, which are the exceptions and result in live birth, are important for couples to have a healthy child.

These anomalies, which can be diagnosed during pregnancy and are compatible with life, leave couples in a dilemma between the decision to terminate or continue the pregnancy, causing intense, emotional and conscientious burdens and troubles. As the chromosomal anomaly (aneuploidy) increases with the age of the woman, the probability of pregnancy and the possibility of a healthy birth decrease. Selection of healthy embryos with PGD increases the rate of taking a healthy baby home.

In order to select healthy embryos for couples with Single Gene Disease, first genetic identification studies (Mutation Analysis), then IVF treatment and finally healthy embryos selected by PGD are transferred.

In the following Single Gene Diseases, healthy embryo selection can be made with PGD.

  • Achondroplasia
  • Adenosine Aminohydrolase Deficiency (ADA)
  • Adrenoleukodystrophy (X-Linked ALD)Agammaglobulinemia, X-linked, Type 1
  • Alopecia Universalis Congenita; ALUNC
  • Alpers Syndrome
  • Alpha 1
  • Antitrypsin Deficiency
  • Alport Syndrome X-Linked
  • Alzheimer Disease, Early-Onset Familial
  • Amyloidosis I, Hereditary Neuropathic
  • Androgen Insensitivity Syndrome
  • Aneuploidies by STR Genotyping
  • Angioedema, Hereditary
  • Argininosuccinic Aciduria (ASL)
  • Ataxia-Telangiectasia
  • Basal Cell Nevus Syndrome (Gorlin Syndrome)
  • Beta-Hydroxyisobutyryl CoA Deacylase deficiency (HIBCH deficiency)
  • Blepharophimosis, Ptosis, and Epicanthus Inversus (BPES)
  • Blood Group – Kell Cellano System
  • Brachydactyly, Type B1; BDB1
  • Brain Tumor, Posterior Fossa of Infancy, Familial
  • Breast/Ovarian Cancer, Hereditary, BRCA1
  • Breast/Ovarian Cancer, Hereditary, BRCA2
  • Canavan Disease
  • Cardioencephalomyopathy (COX2 Deficiency, SCO2)
  • Cardiomyopathy, Hypertrophic familial (CMH4)
  • Ceroid Lipofuscinosis, Neuronal 2, Late Infantile (Batten)
  • Charcot Marie-Tooth Disease, Axonal, Type IIE
  • Charcot Marie-Tooth Disease, Demyelinating, Type IA (CMTIA)
  • Charcot Marie-Tooth Disease, Demyelinating, Type IB (CMTIB)
  • Charcot Marie-Tooth Disease, Type 2B (CMT2B)
  • Charcot Marie-Tooth Disease, Type X-Linked, 1 (CMTX1)
  • Chondrodysplasia Punctata 1, X-Linked Recessive; CDPX1
  • Choroideremia (CHM)
  • Citrullinemia, classic
  • Cohen syndrome (COH1)
  • Complex IV Deficiency (Leigh Syndrome, SURF1)
  • Congenital Adrenal Hyperplasia (CAH)
  • Congenital Nephrotic syndrome
  • Connexin 26(Auto Recessive Non-Syndromic Sensoneural Deafness)
  • Crouzon Syndrome (Craniofacial Dysostosis)
  • Currarino Triad
  • Cystic Fibrosis (CF)
  • Cystinosin (CTNS)
  • Darier-White Disease (DAR)
  • Desmin Storage Myopathy
  • Diamond-Blackfan Anemia
  • Dyskeratosis Congenita, X-Linked
  • Ectodermal Dysplasia 1, Anhidrotic (ED1)
  • Ectodermal Dysplasia, Hypohidrotic , Autosomal Recessive (EDAR)
  • Ehlers-Danlos Syndrome, Type IV, Autosomal Dominant
  • Emery-Dreifuss Muscular Dystrophy, Autosomal Dominant
  • Emery-Dreifuss Muscular Dystrophy, Autosomal Recessive
  • Emery-Dreifuss Muscular Dystrophy, X-Linked
  • Epidermolysis Bullosa Dystrophica, Pasini
  • Epidermolysis Bullosa (PLEC1, LAMB3, COL7A1)
  • Epileptic Encephalopathy, early infantile (CDKL5)
  • Epiphyseal Dysplasia, Multiple, 1 (EDM1)
  • Exudative Vitreoretinopathy, Familial, Autosomnal Dominant
  • Fabry Disease
  • Facioscapulohumeral Muscular Dystrophy
  • Familial Adenomatous Polyposis
  • Familial Amyloid Polyneuropathy
  • Familial Dysautonomia (Riley-Day Syndrome, DYS)
  • Familial Hemophagocytic Lymphohistiocytosis
  • Familial Mediterranean Fever
  • Fanconi Anemia A
  • Fanconi Anemia C
  • Fanconi Anemia E
  • Fanconi Anemia F
  • Fanconi Anemia G
  • Fanconi Anemia J
  • Fragile Site Mental Retardation 1
  • Fragile-X A Syndromes (FMR1)
  • Fragile-X E Syndrome
  • Friederich Ataxia 1 (FRDA)
  • Galactosemia
  • Gangliosidosis, GM2 (Hex A)
  • Gangliosidosis, Type 1 (GM1)
  • Gaucher Disease, Type 1
  • Geroderma Osteodysplastica
  • Glucose transport defect, blood brain barrier (GLUT1)
  • Glutaric Aciduria, Type I
  • Glutaric Aciduria, Type II
  • Glycogen Storage Disease, Type II
  • Granulomatosis, Chronic
  • Hemoglobin–Alpha Locus 1; HBA1
  • Hemoglobin–Beta Locus;HBB
  • Hemophilia A
  • Hemophilia B
  • Hereditary Multiple Exostoses, (HME)
  • Hereditary Nonpolyposis Colorectal Cancer (MSH2, MLH1)
  • HLA + Diamond-Blackfan Anemia; DBA
  • HLA + FANCD2
  • HLA + FANCI
  • HLA + Myotonic Dystrophy
  • HLA + Ectodermal Dysplasia, Hypohidrotic, Immune Deficiency
  • HLA + FANCF
  • HLA + FANCJ
  • HLA + Hemoglobin–Beta Locus; HBB
  • HLA + Krabbe +Aneuploidy
  • HLA + Sickle Cell Anemia
  • HLA + PKD1 + Aneuploidy
  • HLA Matching Genotyping
  • HLA + Adrenoleukodystrophy
  • HLA + FANCC
  • HLA + FANCA
  • HLA + Immunodeficiency with Hyper-IgM, Type 1; HIGM1
  • HLA + Wiskott-Aldrich Syndrome; WAS
  • Holoprosencephaly (SHH)
  • Hoyeraal-Hreidarsson Syndrome (HHS)
  • Huntington Chorea
  • Hydrocephalus, X-Linked (L1CAM)
  • Hyperglycinemia, nonketotic (NKH)
  • Hyperinsulinemic Hypoglycemia, Familial, 1;HHF1
  • Hypertrophic Cardiomyopathy
  • Hypophosphatasia (Infantile)
  • Hypophosphatemia, X-Linked (PHEX)
  • Ichthyosis Congenita, Harlequin Fetus Type
  • Ichthyosis Follicularis Atrichia, Photophobia Syndrome
  • Ichthyosis Lamellar
  • Immunodeficiency with Hyper-IgM, Type 1
  • Incontinentia Pigmenti (IP)
  • INI1 Gene Mutation, Rhabdoid Tumors of the Brain
  • Ipex, X-Linked (FOXP3)
  • Isovaleric Acidemia; IVA
  • Kallmann Syndrome
  • Kell Blood Group Compatibility
  • Krabbe Disease
  • Li-Fraumeni Syndrome (Mutations in p53 Gene)
  • Loeys-Dietz Syndrome, Type 2B; LDS2B
  • Long-Chain Hydroxyacyl-CoA Dehydrogenase (LCHAD)
  • Marfan Syndrome
  • Medium-Chain ACYL-CoA Dehydrogenase Deficiency (MCAD)
  • Metachromatic Luekodystropy
  • Metaphyseal Chondrodysplasia, Schmid Type; MCDS
  • Metaphyseal Dysplasia
  • Methacrylic Aciduria
  • Methylenetetrahydrofolate Reductase Deficiency (MTHFR)
  • Microcoria-Congenital Nephrosis Syndrome
  • Microtubule-associated Protein 7; MAP7
  • Migraine, Familial Hemiplegic, 1;FHM1
  • Mucopolysaccharidosis Type 1H (Hurler Syndrome)
  • Mucopolysaccharidosis Type II (Hunter’s Syndrome)
  • Mucopolysaccharidosis Type IVA (Morquio Syndrome A)
  • Mucopolysaccharidosis Type V1 (Maroteaux-Lamy Syndrome)
  • Multiple Endocrine Neoplasia, 1(MEN1)
  • Multiple Endocrine Neoplasia, Type IIA; MEN2A
  • Multiple System Tauopathy
  • Muscular Dystrophy, Duchenne Type (DMD)
  • Muscular Dystrophy, Becker Type (BMD)
  • Myopathy, Myofibrillar, Desmin-related
  • Myotonic Dystrophy (DM1)
  • Myotubular Myopathy. X-Linked
  • Neimann Pick Disease
  • Nephrosis, Congenital (LAMB2, NPHS1)
  • Neonatal Epileptic Encephalopathy (PNPO gene)
  • Neurofibromatosis Type 1
  • Neurofibromatosis Type 2
  • Neuropathy, Hereditary Sensory and Autonomic, Type III; HSAN3
  • Norrie Disease
  • Ocular Albinism, Type 1; OA1; X-linked
  • Oculocutaneous Albinism Type 1
  • Oculocutaneous Albinism Type 2
  • Omenn Syndrome
  • Optic Atrophy
  • Ornithine Carbamoyltransferase (OTC) Deficiency
  • Ornithine Transcarbamylase Deficiency, due to Hyperammonemia
  • Osteogenesis Imperfecta
  • Osteopetrosis, Malignant, Autosomal Recessive
  • Pancreatitis, Hereditary; PCTT
  • Pelizaeus-Merzbacher Disease
  • Peutz-Jeghers Syndrome; PJS
  • Pfeiffer Syndrome
  • Phenylketonuria
  • Polycystic Kidney Disease Autosomal Dominant Type 1
  • Polycystic Kidney Disease Autosomal Dominant Type 2
  • Polycystic Kidney Disease Autosomal Recessive ARPKD
  • Popliteal Pterygium Syndrome
  • Progressive Familial Intrahepathic Cholestasis
  • Propionic Acidemia
  • Retinitis Pigmentosa
  • Retinoblastoma
  • Rett Syndrome
  • Rhesus Factor Compatibility (RH Factor)
  • Sandhoff Disease
  • Sickle C Anemia (Hemoglobin SC Disease)
  • Sickle Cell Anemia (Hemoglobin SS Disease)
  • Smith-Lemli-Opitz Syndrome
  • Sotos Syndrome
  • Spinal Muscular Atrophy (SMA)
  • Spinocerebellar Ataxia Type 1
  • Spinocerebellar Ataxia Type 2
  • Spinocerebellar Ataxia Type 3, Machado-Joseph Disease (MJD)
  • Spinocerebellar Ataxia Type 6
  • Spinocerebellar Ataxia Type 7
  • Stickler Syndrome
  • Succinic Semialdehyde Dehydrogenase Deficiency
  • Surfactant Metabolism Dysfunction, Pulmonary, 3; SMDP3
  • Symphalangism Proximal (SYM1)
  • Tay-Sachs Disease (TSD)
  • Thrombotic Thrombocytopenic Purpura, Congenital; TTP
  • Torsion Dystonia (DYT1)
  • Treacher Collins Syndrome
  • Trifunctional Protein Deficiency
  • Tuberous Sclerosis Type 1
  • Tuberous Sclerosis Type 2
  • Tyrosinemia, Type 1
  • Ulnar-Mammary Syndrome; UMS
  • Van der Woude Syndrome; VWS
  • Vanishing White Matter Disease
  • Very Long Chain ACYL-CoA Dehydrogenase Deficiency (VLCAD)
  • Von Hippel-Lindau Syndrome (VHL)
  • Wiskott Aldrich Syndrome
  • Wolfram Syndrome
  • Wolman Disease
  • Zellweger Syndrome (PEX1 and PEX2)