What Does PGD Have To Do With Becoming (and staying ) Pregnant?
You may have heard the term PGD. It stands for Preimplantation Genetic Diagnosis, an advanced genetics test used in conjunction with in vitro fertilization to determine the status of an embryo’s chromosomes.
At IVF clinics, physicians are being asked with greater frequency about PGD. It’s easy to understand why: recent studies show that PGD may improve a woman’s chance of a baby being born with a normal number of chromosomes.
How can PGD help improve my chances of becoming pregnant or carrying to term?
Studies reveal that PGD of aneuploidy increases the chance of implantation, reduces pregnancy loss and increases live births. Data suggests a four-fold reduction in the frequency of chromosomally atypical conceptions after PGD.
How does PGD work?
The IVF embryologist carries out the process by removing a cell or blastomere from the embryo on the third day of this development through the use of microsurgical techniques and fixing the cell on a glass slide. Each cell is usually representative of all cells from that particular embryo. Geneticists use a technique called FISH (fluorescence in situ hybridization) to identify the chromosomal makeup of the cell and determine which embryos are most suitable for replacement in the woman’s uterus. In the meantime, during PGD, the embryos develop undisturbed in an incubator.
In some cases polar bodies, two small cells produced by the ripening egg before fertilization, may be tested. This only provides genetic information from the egg. It will not detect abnormalities that may occur after the egg is fertilized by sperm.
Is PGD 100% accurate?
PGD, the only test available to determine aneuploidy, has an accuracy rate of over 90%. There is a false positive error rate of only 4.7%. Yet to identify a false negative (classifying an abnormal embryo as normal), prenatal testing is still recommended via chorioric villous samples (CVS) or amniocentesis.
Are there risks to the embryo?
PGD apparently has no affect on normal development of the embryo or fetus. It is estimated that the removal of one cell reduces the ability of the embryo to implant by less than 3%.
Which patients stand to benefit from PGD?
Virtually all couples over 35 without a history of repeated IVF failures are excellent candidates. Studies show that women who have Recurrent Pregnancy Loss, previous aneuploid conceptions, known chromosome abnormalities and single gene defects, can also benefit. It is not yet clear if women with repeated IVF failures would be good candidates for the procedure. In any of these problems, men as well as women may be the cause of the failure.
What is the cost for PGD?
There is an additional cost for PGD, above that of your IVF cyde. In addition to the removal of the cells from the embryo, a procedure performed at the IVF center, actual testing is done at a specialized laboratory.
If I am interested in PGD, how should I proceed?
Speak to your IVF physician and we'll be happy to assist you.
What should I know about chromosomes?
If you look at a cell under a microscope, you’ll see string-like structures in the cell’s center, or nucleus. These are chromosomes which contain DNA- our genetic roadmap. Normal human cells (for adults, babies, fetuses and embryos) contain 46 chromosomes in 23 pairs, half from each parent.
The condition of having an embryo or zygote with either more or less than 46 chromosomes is called aneuploidy. Very often, the likelihood of aneuploidy increases with the age of the woman, but it can also occur in women under 35. Aneuploid embryos may have extra (called trisomy) or missing (monosomy) chromosomes. A baby carrying an extra or missing chromosome may be born with mental and/ or physical defects. Down syndrome is a common example.
How does aneuploidy affect my ability to conceive or maintain a pregnancy?
A chromosomal abnormality can prevent the embryo from attaching to the wall of the uterus, eliminating any chance of pregnancy. It may also cause the implanted embryo to stop developing, resulting in a pregnancy loss.
More than 50% of embryos from women who are 35 to 39 show chromosomal abnormalities, while those over 40 have a frequency of aneuploidy of 80% or higher. That’s why the percentage of older women becoming pregnant is so low.
Additionally, experts consider aneuploidy to be the biggest factor for Reccurent Pregnancy Loss (of miscarriages) among women 35 and older, responsible at least half the time.
Why is aneuploidy more likely to affect older women?
Since women have eggs that are as old as they are – females have all of their eggs from the fetal stage onwards ; they don’t add new ones later on – experts believe that these older eggs are less likely to divide properly.
Single gene disorders
The term single gene disorder refers to any one of the hundreds of inherited diseases caused by mutation (change) in a single gene.
Common exmples include cystic fibrosis, alpha and beta-thalassemia, myotonic dystrophy, sickle cell anemia, Duchenne muscular dystrophy and fragile x syndrome.
PGD for single gene disorders avoids pregnancy termination.
Preimplantation Genetic Diagnosis (PGD) is now available for virtually all single gene disorders. The aim of PGD is to provide patients at risk of transmitting an inhetited disorder to their children the chance to initiate an unaffected pregnancy. PGD dramatically reduces the likelihood that an affected fetus will be detected during prenatal testing and therefore decreases the probability that parents will face the difficult decision of whether or not to terminate a pregnancy.
The single gene PGD service
The single gene PGD program has proven extremely popular with the number of referrals more than doubling in each of the past three years. The methods used are at the cutting edge of genetic diagnosis, yielding highly accurate results extremely rapidly. Embio single gene tests generally have assay accuracy rates of 99% or higher, with results available within 24 hours of sample receipt (range 5-36 hours).
Every single gene test performed by our designed specifically for the couple requesting PGD. Each protocol takes into account the unique genetic makeup of each individual allowing the production of more reliable tests.
In effect, we have the capacity to develop PGD tests for any single gene disorder. PGD tests for single gene disorders are designed specifically for the couple requesting PGD and therefore extensive preliminary preparation is required . In Vitro Ferilization cycles should not be initiated until the case is reviewed, approved information regarding specific preparation time.
We offer HLA-typing
In addition to PGD for single gene disorders, we have the ability to perform human leukocyte antigen (HLA)- typing of embryos.
There has been a growing interest in HLA- typing of embryos as it allows parents to conceive a child that is capable of providing histocomlatible stem cells in order to save a life of a sibling with a disease. The stem cells are obtained from umbilical cord blood at the time of birth and then trasferred to the affected sibling. This approach haw been used to cure children with a variety of forms of inherited anemia and also for children with leukemia.
Key features of the gene PGD service
- PGD can help parents avoid having to contemplate pregnancy termination
- Available for virtually all single gene disorders
- Diagnostic protocols tailored to individual patients
- Extremely high assay accuracy rates
- Employs analysis of hypervariable polymorphisms for accurate detection of contamination
- Rapid results
- HLA – typing available
Innovation and new services
At our unit we continually strive to extend the services offered to our clients. We will be offering novel technologies in the near future.
What exactly is PGD?
PGD is an advanced genetics test used with in vitro fertilization to determine the status of an embryo’s chromosomes. A normal cell has 46 chromosomes in 23 pairs, half from each parent.
By taking a cell has an extra or missing chromosome. This condition can cause a child to be born with mental and/ or physical shortcomings, such as Down Syndrome.
A chromosome abnormality can also prevent the embryo from attaching to the wall of the uterus, preventing any chance of pregnancy. Or, in the case of many women experiencing Recurrent Pregnancy Loss, it can cause the embryo to stop developing, causing the fetus to spontaneously miscarry.
How likely is it that i may be affected by a chromosome abnormality?
The older you are, the greater the chance that your eggs will be affected. More than 50% of embryos from women who are 35 to 39 have chromosomal abnormalities. For those over 40, the percentages increase to 80% or higher. That’s why older women have far lower pregnancy rates and higher rates of miscarriage. In addition, patients with Reccurent Pregnancy Loss are believed to produce more chromosomally abnormal embryos regardless of age.
How would PGD improve my chances?
Studies have shown that PGD can double the chance of implantation of the embryo, reduce pregnancy loss as much as three-fold, and increase the likelihood of live births. Data even found a reduction in miscarriage among IVF patients who did not have recurrent miscarriage, from 23% to9%. In women with an average age of 40, they found that the chance of an embryo to succesfully impant doubled.
Am I a candidate for PGD?
Women with Recurrent Pregnancy Loss, as well as those who have had problems becoming pregnant, are considered good candidates for PGD.
How and when is PGD performed?
PGD can only be done as part of the in vitro process- at a time when the IVF physician has removed the egg from the female and it has become fertilized with the male’s sperm, prior to being replaced in the uterus.
With PGD, a cell is removed from the embryo through the use of microsurgical techniques and the cell is fixed to a glass slide.
Genetics at our laboratory then examine the cell under a high- powered microscope using a technique called FISH (fluorescence in situ hybridization) to determine the chromosomal makeup. The embryo, meanwhile, remains in a incubator with virtually no risk to its development.
Dr Paraschos participated in the world's first PGD.
|Actin-Nemain Myopathy||Acute Intermittent Porphyria|
|Acute Megakaryocytic Leukemia||Acenomatous Polyposis Coli|
|Alagille Syndrome||aldolase A deficiency|
|Alpers Syndrome||Alpha Thalassemia|
|Alpha Thalassemia/Mental Retard||Alpha-1-Antitrypsin Deficiency|
|Alport Syndrome||ALS: Amyotrophic Lateral Sclerosis 1|
|Alzheimer Disease 3||Amegakaryocytic Thrombocytopenia, Congenital|
|Amyloidosis I-Translhyretin||Angioedema, Hereditary|
|Antithrombin Deficiency||Apert Syndrome|
|Ataxia Telengiectasia||Bardet-Biedl Syndrome-Type 1|
|Bardet-Biedl Syndrome-Type 10||Basal Cell (Gorlin) Synd|
|Batten Disease, Neuronal Ceroid Lipofuscinosis 3||Beta Thalassemia|
|Brachydactyly-Type C||Breast Cancer|
|Canavan Disease||Cardiomyopathy, Barth Type Dilated|
|Cardiomyopathy, Dilated Hypertrophic||Cardiomyopathy, Familial Hypertrophic 2|
|Darnitine-AcylCarn Hypertrophic 2||Carnitine-AcylCarn Translocase|
|Ceroid-Lipofuscinoses-Batten Disease||Ceroid-Lipofuscinoses-Finish Type|
|Ceroid-Lipofuscinoses-Jivenile Type||Charcot Marie Tooth Neuropathy 1B|
|Charcot Marie Tooth Neuropathy 2E||Cherubism|
|Choroideremia||Chronic Granulomatous Disease|
|Cockayne Syndrome Type B||Colon Cancer|
|Congenital Adrenal Hyperplasia||Congenital Disorder Glycosylation, 1a-CDG-1a|
|Congenital Disorder Glycosylation, 1c-CDG-1c||Congenital Disorder Glycosylation, 1e-CDG-1e|
|Congenital Disorder Glycosylation, 1g-CDG-1g||Congenital Erythropoietic Porphyria|
|Cosman-Cyclic Neutropenia||Crigler Najjar|
|Crouzon Syndrome||Cystic Fibrosis|
|Deafness, Recessive||Denys-Drash Wilms Tumor|
|Desmin Storage Myopathy\Diamond Blackfan||Duchenne muscular dystrophy|
|Dystrophia Myotonica-1||Dystrophia Myotonica-2|
|Ectodermal Dysplasia I||Ehlers-Danlos|
|Emery-Dreifuss X-linked Muscular Dystrophy||Emery-Dreifuss X-linked AutoDom Dystrophy|
|Epidermolysis Bullosa\Epidermolysis Bullosa Simplex||Epidermolysis Bullosa\Epidermolysis Bullosa / Pyloric Atresia|
|Epidermolysis Dystrophic Bullosa||Epidermolysis Hyperkeratosis|
|Factor 13 Dysautonomia||Familial Exudative Vitreoretinopathy|
|Fanconi Anemia A||Fanconi Anemia C|
|Fanconi Anemia F||Fanconi Anemia J|
|FanconiaAnemia G||Fragile X|
|Galactosemia||Gastric Cancer, Cadherin-E-1|
|Gaucher Disease||Genotyping p Molecular Signature - Fingerprinting|
|Gerstmann-Straussler Disease||Glutaric Acidemia 2A|
|Glycine Encephaloopathy GLDC 80%||Glycogen Storage Disease 1, Von Girke- GSD1a|
|Glycogen Storage Disease 2, Pompe- GSD2||GM1 Gangliosidiosis, Morquio|
|Hemophilia B||Hereditary Hemmorrhagic Telangietasia Type 1|
|Histiocytosis, Hemophagocytic Lympho||HLA DRBeta1 Class II MHC|
|HLA-Histocompatability, Transplantation Matching||Holt-Oram|
|Huntington Disease||Hurler Syndrome|
|Hydrocephalus: X-Linked||Hyper IgM|
|Hypokalemic periodic paralysis||Hypophosphatasia|
|Hypophosphatemic VitD Rickets||Icthyosis, H-Steroid Sulf Def|
|Icthyosis, Congenital, Harlequin||Incontinentia Pigmenti|
|IPEX - Immunodysregulation, polyendocrinopathy, and entereopathy, x-linked||Joubert Syndrome|
|Kalimann Syndrome||KELL Antigen|
|Leber Retinal Congenital Amaurosis-I||Leber Retinal Congenital Amaurosis-X|
|Lesch-Nyhan||Leukemia, Acute Lymphocytic, Transplantaion|
|Leukemia, Acute Lymhocytic Transplantation||Leukemia, Acute Myelogenous, Transplantation|
|Leukemeia, Chronic Myelogenouys, Transplantation||Leukocyte Adhesion Deficiency|
|Li-Fraumeni Syndrome||Limb Girde MD|
|Long-Chain-AcylCoA Dehydrogenase||Long QT Syndrome|
|Lymphedema-Hereditary||Lymphoproliferative Disorder, X-linked|
|Machado-Joseph Spinocerebellar Ataxia-3||Amacular Dystr-Best Vitelliform|
|Maple syrup Urine Dz E1-Beta||Marfan Syndrome|
|Merosin-deficient congenital muscular dystrophy type 1A||Metachromatic Leukodystrophy|
|Methylocobalamin G Deficiency||Methlmalonic Acidemia|
|Mitochondrial Myopathy-Complex I||Mucolipidosis 2, I Cell|
|Multiple Endocrine Neoplasia 1||Multiple Endocrine Neoplasia 2 MEN2|
|Multiple Extostoses||Myasthenia Gravis|
|Myotonic Muscular Dystrophy||Myotubular Myopathy X-Linked|
|NEMO immunodeficiency||Nephrosis - Finnish|
|Neurofibromatosis 1||Neurofibromatosis 2|
|Niemann-Pick - Type A||Niemann-Pick - Type C|
|Norrie||Occulocculaneous Albinism II|
|Occulocculaneous Albinism I, OCA1||Ocular Albinism X-Linked|
|Oculodentodigital Dysplasia||Optic Atrophy 1|
|Omithine transcarbamylase deficiency||Osteogenesis Imper II/IV and Chondrodysplasias|
|Osteogenesis Imperfecta I||Osteopetrosis|
|Pachyonychia Congenita||Pancreatitis, Chronic Calcific|
|Pelizaeus-Merzbacher, X-linked||Periventricular Heteropia|
|Pendred Syndrome||Persistent Hyperinsulinemic Hypoglycemia of Infancy|
|Peutz-Jeghens Syndrome||Pfeiffer Syndrome|
|Plycystic Kidney Disease||Pompe, Glycogen Storage Disease 2, GSD2|
|Propionic Acidemia||Pseudohypoparathyroidism 1a|
|Retinitis Pigmentosa||Retinitis Pigmentosa adRP10|
|Retinitis Pigmentosa X-linked||Retinoblastoma 1|
|Rhesus blood group D||Rhizomelic Chondrodysplasia Punctata|
|Sanfilippo A||Sanfillipo B|
|Severe Comb Immunodef||Shwachman-Diamond Syndrome|
|Sickle Cell||Simpson-Golabi-Behmel Syndrome|
|Sorsby Fundus Dystrophy||Spinal Muscular Atrophy SMA|
|Spinocerebellar Ataxia-1, SCA1||Spinocerebellar Ataxia-2, SCA2|
|Spinocerebellar Ataxia-3, SCA3, Machado-Joseph||Spinocerebellar Ataxia-7, SCA7|
|Spondyloepiphyseal Dysplasia, Congenital||Steroid Sulfatase Deficiency|
|Stomack-Ovarian-Endometrial Caner||Supravalvular Aortic Stenosis|
|Thrombocytopenia with Beta-Thalassemia||Torsion Dystonia|
|Tubercus Sclerosis 1||Tubercus Sclerosis 2|
|Ulrich Congenital Muscular Dystrophy||Usher Yndrome|
|VanderVoude-Popliteal Pterygium||Von Hippel-Lindau Disease|
|aardenburg Syndrome Type II||aardenburg Syndrome Type I/III|
|West Syndrome||Wilms Tumor|
|Wiskott-Aldrich Syndrome||Wolman Lipase A|
|Zellweger Peroxisome Disease|