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PGD GeniSeq24 – Preimplantation Genetic Diagnosis – next generation sequencing

Home » IPGO Inglês » PGD GeniSeq24 – Preimplantation Genetic Diagnosis – next generation sequencing
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PGD GeniSeq24 (Preimplantation Genetic Diagnosis) – next generation sequencing, is a test which can be performed with IVF (In Vitro Fertilization), with the objective to diagnose the existence of genetic or chromosomal disorders in the embryos before implantation in the mother’s uterus. Therefore, couples at risk of developing children with problems such as Down Syndrome, muscular dystrophy, hemophilia, and other genetic abnormalities can discover if the embryo carries such disorders by means of this test. This technique when applied in a fertility treatment consists of removing one cell from the embryo (embryo biopsy) for analysis in a laboratory on the third day of development when the embryo has about 8 cells, before placing it in the uterus. This procedure does not affect the future baby and the result can be obtained in a few hours.

Embryos with problems should not be transferred. In special cases, the procedure can also be performed on women over 40 years old. At this age, the risk of developing a child with genetic problems is one in 40, while in younger women, up to 35 years old, is one in 200. Besides being used to minimize the possibilities of abnormalities in the baby, this technique also increases the probability of positive IVF results since, in most cases, embryos with abnormalities are naturally rejected by the maternal organism.

To insert PGD film

Nevertheless, this technique should not become a routine procedure for older women who wish to become pregnant. Besides the high cost of the test, there are some ethical principles of the couple which should be respected, such as the consideration for natural selection, the objection of discarding embryos that present problems, and the risk of error, up to 10%.

It is already possible to detect 130 diseases, and this number can increase even more. IPGO analyzes 9 chromosomes which are represented by the numbers 13, 15, 16, 17, 18, 21, 22, and by the sex chromosomes X and Y, besides other genetic diseases which are described in the following text. Click here to know other genetic diseases that can be diagnosed.

Trisomy 13 is responsible for Patau syndrome which has the following main characteristics: low birth weight, mental deficiency, and respiratory problems. Forty-five percent of babies who are born with this problem die in the first month, 69% within six months, and 72% in one year.

Edwards syndrome is represented by trisomy 18. Around 95% of pregnancies with fetuses carrying this chromosomal disease lead to miscarriages, 5 to 10% survive the first year. Rare cases exist where adults are carriers of this problem. Mental retardation, delayed growth, and sometimes serious cardiac malformations characterize this problem.

Trisomy 21 is responsible for the most common aneuploidy, Down syndrome. The carriers of this disease have prominent characteristics, slow motor development, and mental retardation that varies from mild to moderate to severe.

The chromosomes X and Y determine the sex of the baby; however, this procedure should not be used for selection. The presence of this item in the diagnosis has importance in the selection of embryos which may have specific diseases related to the determined gender. In the case of hemophilia which is a blood coagulation disorder, only male individuals are affected. In Turner syndrome, only women are affected and have such main characteristics as sexual infantilism and no reproductive development.

Other diseases linked to genetic and chromosomal problems are:

Huntington’s disease – presence of involuntary movements characterized by irregular muscle contractions and occasional spasms (unintentional muscle movements), gradual loss of brain cells, and mental deterioration. The disease is hereditary and the symptoms normally appear between the ages of 35 and 40 years.

Progressive Muscular Dystrophy (PMD) – characterized by the progressive degeneration of the musculature. Science recognizes more than thirty different types of this disease, that can vary between benign and malignant. The affected muscles depend on the type. Children and adults of both genders can be affected.

Cystic Fibrosis – abnormal function of the salivary glands and of the glands that produce sweat, tears, and digestive enzymes. The person displays intestinal problems due to the enzymes not being secreted into the intestine and respiratory distress due to the accumulation of mucus which obstructs the air passage to the lungs.

Fragile X Syndrome (FXS) – this name was given for its disease due to the abnormality in the X chromosome. The FXS affects the mental development, from learning difficulties to profound retardation, of men and women. However, males are more susceptible. It is estimated that the disease affects one in every two thousand people. It carries hereditary characteristics and can affect different members of the same family without showing physical features.

The preimplantation genetic and chromosomal testing can help many couples who are unable to conceive, who have repetitive miscarriages, and who have a family history of genetically transmitted diseases. In proportion to the frequency of this test being performed, it will become more accessible to everyone.

Nowadays, it is already performed for genetic diseases which appear later in life, such as breast cancer which is predicted in a woman by means of molecular biology. In England, it is already possible to diagnose the presence of a disease called familial adenomatous polyposis that causes colon and rectum cancer at the onset of adolescence, leading to death.



Preimplantation Genetic Diagnosis (PGD) by embryo biopsy must have strict directions as a real necessity for the couple, for this exam is not risk-free. Controversies exist about how many problems are caused by this test, which can be major or minor depending upon the experience of the professionals who are performing the procedure. They are:

  • Damage to embryo quality.
  • Decrease in pregnancy rate.
  • Discard potentially healthy embryos. In error, they can be considered unhealthy embryos, when in truth they are not. The one cell that is removed for testing does not always represent the whole (Mosaicism).
  • Failure in the biopsy, fixation of the removed cell.
  • Result is not 100% accurate.

References: “Latest developments in preimplantation genetic diagnosis”- AMC – Center for Reproductive Medicine – ESHRE Meeting – Amsterdam 2009


Genetic Diseases:

The following are genetic diseases diagnosed by PGD. Some diseases may not be on this list, but can be diagnosed as a result of new scientific advancements. If a particular disease you are looking for is not listed, please contact us about the possibility of performing a diagnosis.

List of possible diagnosable diseases:

  • A
  • Aarskog (X-FGD1)
  • Achondroplasia (FGFR3)
  • Actin-Nemalin Myopathy (ACTA1)
  • Adenomatous Polyposis Coli (FAP-APC)
  • Adrenoleukodystrophy (ABCD1)
  • Agammaglobulinemia-Bruton (BTK)
  • Alagille Syndrome (JAG1)
  • Aldolase A deficiency (ALDOA)
  • Alpha Thalassemia (HBA1)
  • Alpha Thalassemia/Mental Retard (ATRX)
  • Alpha-1-Antitrypsin Deficiency (AAT)
  • Alport Syndrome (COL4A5)
  • ALS: Amyotrophic Lateral Sclerosis 1, (SOD1)
  • Alzheimer Disease 3 (PSEN1)
  • Amegakaryocytic Thrombocytopenia, Congenital (CAMT)
  • Amyloidosis I-Transthyretin (TTR)
  • Angioedema, Hereditary (C1NH)
  • Ankylosing spondylitis (Susceptibility to, HLA-B27)
  • Antithrombin Deficiency (SERPINC1)
  • Apert Syndrome (FGFR2)
  • Ataxia Telangiectasia (ATM)
  • B
  • Basal Cell (Gorlin) Synd (PTCH)
  • Beta Thalassemia (HBB)
  • Bloom Syndrome (BLM)
  • Brachydactyly-Type C (GDF5)
  • Breast Cancer (BRCA1 & 2)
  • C
  • CACH-Ataxia (EIF2B4)
  • CADASIL (Notch3)
  • Canavan Disease (ASPA)
  • Cardiomyopathy, Barth Type Dilated (TAZ)
  • Cardiomyopathy, Dilated Hypertrophic (MYH7)
  • Dilated Hypertrophic Cardiomyopathy MYH7
  • Carnitine-AcylCarn Translocase (SLC25A20)
  • Ceroid-Lipofuscinoses-Batten Disease (PPT1)
  • Ceroid-Lipofuscinoses-Finish Type (CLN5)
  • Ceroid-Lipofuscinoses-Juvenile Type (CLN3)
  • Charcot Marie Tooth 1A (PMP22)
  • Charcot Marie Tooth Neuropathy – 2E, (NF-L, NEFL)
  • Charcot-Marie-Tooth neuropathy 1B (MPZ)
  • Cherubism (SH3BP2)
  • Choroideremia (CHM)
  • Chronic Granulomatous Disease (CYBB)
  • Citrullinemia (ASS)
  • Cleidocranial Dysplasia (RUNX2)
  • Cockayne syndrome type B (CSB; ERCC6)
  • Colon Cancer (HNPCC; MSH2)
  • Congenital Adrenal Hyperplasia (CYP21A2 )
  • Congenital Disorder Glycosylation, 1a – CDG-1a (PMM2)
  • Congenital Disorder Glycosylation, 1c – CDG-1c (ALG6)
  • Congenital Disorder Glycosylation, 1e – CDG-1e (DPM1)
  • Congenital Disorder Glycosylation, 1g – CDG-1g (ALG12)
  • Congenital Erythropoietic Porphyria (UROS)
  • Cosman-Cyclic Neutropenia (ELA2)
  • Crigler Najjar (UGT1A1)
  • Crouzon Syndrome (FGFR2)
  • Cystic Fibrosis (CFTR)
  • Cystinosis (CTNS)
  • D
  • Darier Disease (ATP2A2)
  • Deafness, Recessive – (GJB2 Connexin 26)
  • Deafness, Recessive – (GJB6 Connexin 30)
  • Deafness, Recessive (DFBN1)
  • Denys-Drash Wilms Tumor (WT1)
  • Desmin Storage Myopathy (DES)
  • Diamond Blackfan (DBA-RPS19)
  • Diamond Blackfan (DBA2) Not RPS19
  • Duchenne muscular dystrophy (DMD)
  • Dystonia (TOR1A)
  • Dystrophia Myotonica-1 (DMPK) CTGrpt
  • Dystrophia Myotonica-2 (DM2; PROMM) CCTGrpt
  • E
  • Ectodermal Dysplasia I EDA1
  • Ehlers-Danlos COL3A1
  • Emery-Dreifuss X-Linked Muscular Dystrophy
  • Emery-Dryfuss AutoDom Muscular Dystrophy (LMNA)
  • Epidermolysis Bullosa (KRT5)
  • Epidermolysis Bullosa Simplex KRT14
  • Epidermolysis Bullosa/Pyloric Atresia – ITGB4
  • Epidermolysis Dystrophic Bullosa-COL7A1
  • Epidermolytic Hyperkeratosis (KRT10)
  • F
  • Fabry (GLA)
  • Facioscapulohumeral Dystrophy (FSHD)
  • Factor 13 Deficiency (F13A1)
  • Familial Dysautonomia (IKBKAP)
  • Familial Exudative Vitreoretinopathy FZD4
  • Fanconi Anemia A (FANCA)
  • Fanconi Anemia C (FANCC)
  • Fanconi Anemia F (FANC F)
  • Fanconi Anemia J (FANCJ, BRIP1)
  • Fanconia Anemia G (FANCG)
  • Fragile X (FMR1)
  • Friedreich Ataxia I (FRDA)
  • G
  • Galactosemia (GALT)
  • Gastric Cancer, Cadherin-E-1 (CDH1)
  • Gaucher Disease (GBA)
  • Genotyping-Molecular Signature-Fingerprinting
  • Glutaric Acidemia 2A (ETFA)
  • Glycine Encephalopathy GLDC 80% (NKH)
  • Glycogen Storage Disease I, Von Girke – GSD1a (G6PC)
  • Glycogen Storage Disease 2, Pompe – GSD2 (GAA)
  • GM1 Gangliosidosis, Morquio (GLB1)
  • H
  • Hallervorden-Spatz-Pantothenate (PANK2)
  • Hemophilia A (Factor 8)
  • Hemophilia B (Factor 9)
  • Hereditary Hemmorrhagic Telangietasia Type 1 (HHT1)
  • Histiocytosis, Hemophagocytic Lympho- (HLH; PRF1)
  • HLA DRBeta1 Class II MHC (HLA DRB1*)
  • HLA-Histocompatability, Transplantation Matching (HLA)
  • Hunter syndrome (IDS)
  • Huntington Disease (HD)
  • Hurler Syndrome (MPSI-IDUA)
  • Hydrocephalus:X-Linked L1CAM
  • Hyper IgM (CD40-ligand; TNFSF5)
  • Hypokalemic periodic paralysis (SCN4A-HYPP)
  • Hypophosphatasia (ALPL)
  • Hypophosphatemic VitD Rickets
  • I
  • Icthyosis, X-Steroid Sulf Def
  • Icthyosis.Congenital, Harlequin (ABCA12)
  • Incontinentia Pigmenti (NEMO)
  • J
  • K
  • KELL Antigen (KEL)
  • Kennedy-Spinal bulbar (AR)
  • Krabbe (GALC)
  • L
  • Leber Retinal Congenital Amaurosis-I (GUCY2D)
  • Leber Retinal Congenital Amaurosis-X (CEP290)
  • Lesch-Nyhan (HPRT1)
  • Leukemia, Acute Lymphocytic, Transplantation (ALL)
  • Leukemia, Acute Myelogenous, Transplantation (AML)
  • Leukemia, Chronic Myelogenous, Transplantation (CML)
  • Leukocyte Adhesion Deficiency (ITGB2)
  • Li-Fraumeni Syndrome (TP53)
  • Long-Chain-AcylCoA Dehydrogenase (LCHAD:HADHA)
  • Lymphedema-Hereditary (FOXC2)
  • Lymphoproliferative Disorder, X-linked (SH2D1A)
  • M
  • Machado-Joseph Spinocerebellar Ataxia-3 (SCA3)
  • Macular Dystr-Best Vitelliform (VMD2)
  • Maple Syurp Urine Dz E1-Beta (BCKDHB)
  • Marfan Syndrome (FBN1)
  • Meckel-Gruber Syndrome-3 (MKS3)
  • Menkes (ATP7A)
  • Merosin-deficient congenital muscular dystrophy type 1A (MDC1A)
  • Metachromatic Leukodystrophy (ARSA)
  • Methylcobalamin G Deficiency (MTR)
  • Methylmalonic Acidemia (MUT)
  • Mitochondrial Myopathy-Complex I (NDUFS4)
  • Mucolipidosis 2, I Cell (GNPTAB)
  • Multiple Endocrine Neoplasia 1 (MEN1)
  • Multiple Endocrine Neoplasia 2 MEN2 (RET)
  • Multiple Extostoses (EXT1)
  • Multiple Extostoses (EXT2)
  • Myasthenia Gravis (CHRNE)
  • Myotubular Myopathy X-Linked (MTM)
  • N
  • NEMO immunodeficiency (IKBKG)
  • Nephrosis – Finnish (NPHS1)
  • Neurofibromatosis 1 (NF1)
  • Neurofibromatosis 2 (NF2)
  • Niemann Pick – Type A (SMPD1)
  • Niemann Pick – Type C (NPC1)
  • NonKetotic Hyperglycinemia (GLDC)
  • Noonan (PTPN11)
  • Norrie (NDP)
  • O
  • Occulocutaneous Albinism II- (OCA2)
  • Occulocutaneous Albinism I, OCA1 (TYR)
  • Ocular Albinism-X Linked (GPR143)
  • Oculodentodigital Dysplasia (GJA1)
  • Optic Atrophy 1 (OPA1)
  • Ornithine transcarbamylase deficiency (OTC)
  • Osteogenesis Imper II/IV & Chondrodysplasias(COL1A2)
  • Osteogenesis Imperfecta I (COL1A1)
  • Osteopetrosis (CLCN7)
  • Osteopetrosis (TCIRG1;APT6)
  • P
  • Pachyonychia Congenita (KRT6A)
  • Pachyonychia Congenita (KRT16A)
  • Pancreatitis, Chronic Calcific (PRSS1)
  • Paraganglioma-Nonchromaffin (SDHB)
  • Pelizaeus-Merzbacher, X-linked (PLP1)
  • Periventricular Heteropia (FLNA)
  • Persistent Hyperinsulinemic Hypoglycemia of Infancy (ABCC8)
  • Pfeiffer Syndrome (FGFR2)
  • Phenylketonuria PKU (PAH)
  • Pheochromocytoma (SDHB)
  • Polycystic Kidney Disease (PKD1)
  • Polycystic Kidney Disease (PKD2)
  • Polycystic Kidney Disease, Recessive (PKHD1)
  • Pompe, Glycogen Storage Disease 2, GSD2 (GAA)
  • Propionic Acidemia (PCCA)
  • Pseudohypoparathyroidism 1a (GNAS1)
  • Q
  • R
  • Retinitis Pigmentosa (RHO)
  • Retinitis Pigmentosa adRP10 (IMPDH1)
  • Retinitis Pigmentosa X-linked (RPGR)
  • Retinoblastoma 1 (RB1)
  • Retinoschisis, (RS1)
  • Rhesus blood group D (RHD)
  • Rhizomelic Chondrodysplasia Punctata (RCDP1)
  • S
  • Sacral Agenesis (HLXB9)
  • Sanfilippo A (MPSIIIA)
  • Sanfillipo B (MPSIIIB) (NAGLU)
  • Sathre-Chotzen Craniosynostosis (TWIST)
  • SCIDX1 (IL2RG)
  • Severe Comb Immunodef (SCID)
  • Shwachman-Diamond Syndrome (SBDS)
  • Sickle Cell (HBB)
  • Smith-Lemli-Opitz (SLOS)
  • Sorsby Fundus Dystrophy (TIMP3)
  • Spinal muscular atrophy SMA (SMN1)
  • Spinocerebellar Ataxia-1, SCA1 (ATNX1)
  • Spinocerebellar ataxia-2, SCA2 (ATXN2)
  • Spinocerebellar Ataxia-3, Machado-Joseph (SCA3)
  • Spinocerebellar Ataxia-7 (ATXN7)
  • Spondyloepiphyseal dysplasia, congenital (SEDc)
  • Steroid Sulfatase Deficiency (STS)
  • Stomach-Ovarian-Endometrial Cancer (CDH1)
  • Supravalvular Aortic Stenosis (ELN)
  • Surfactant-Pulmonary B (SFTPB)
  • T
  • Tay-Sachs (HEXA)
  • Torsion dystonia (DYT1)
  • Treacher Collins (TCOF1)
  • Transplantation-BoneMarrow-StemCell (HLA locus)
  • Tuberous Sclerosis 1 (TSC1)
  • Tuberous Sclerosis 2 (TSC2)
  • U
  • V
  • VanderWoude -Popliteal Pterygium (IRF6)
  • Von Hippel-Lindau Disease (VHL)
  • W
  • Waardenburg Syndrome Type II (MITF)
  • Waardenburg Syndrome-I/III (PAX3)
  • West Syndrome (ARX)
  • Wilms Tumor (WT1)
  • Wiskott-Aldrich Syndrome (WAS)
  • Wolman Lipase A (LIPA)