Preimplantation Genetic Diagnosis- Who has done or heard of someone doing this?

[rmmoye]

Preimplantation Genetic Diagnosis is something that my Re suggested.  I have had RM Or RPL  Recurrent Pregnancy Losses. He also said that it tells u the sex of the baby.  I can give u more info i off of the webpage   if u need it.

PGD is the use of genetic testing technology to evaluate the embryos for chromosome or genetic abnormalities. There are different reasons why PGD may be performed. There are also different techniques that are available for the genetic evaluation of embryos. During the PGD process, eggs and sperm are united through in vitro fertilization (IVF) or intracytoplasmic sperm injection (ICSI). A cell biopsy is taken from each embryo and sent for genetic analysis. The genetic analysis tells the embryology lab which embryos are genetically normal. Genetically normal embryos have a very high chance of making a pregnancy. California IVF: Davis Fertility Center, Inc. is a leading center in the Northern California and Sacramento area. We have been performing genetic testing procedures since 2005 and our testing volume continues to grow at a rapid rate.

        The name "Preimplantation Genetic Diagnosis" is a form of genetic screening. A more correct name for this testing is Preimplantation Genetic Screening, or PGS. The names are often used interchangeably throughout this site.

Reasons for using PGD

Embryos can be analyzed for 1 or more of the following reasons:

    Aneuploidy - A condition in which there is an extra or missing chromosome. An example of aneuploidy is Down Syndrome. There is an increased incidence of aneuploidy as women age.
    Gender Selection -The determination of whether an embryo is male or female. This is a very accurate way for patients to have a boy or a girl through family balancing.
    Translocations - A change in chromosome structure in which chromosomes are attached to each other or pieces of different chromosomes have been interchanged.
    Single Gene Disorders - Disorders or diseases caused by the inheritance of a single mutated gene. Diseases such as Cystic Fibrosis, Tay Sachs, Alpha and Beta Thalassemia and Sickle Cell Anemia are examples of a mutated gene.
    Recurrent Pregnancy Loss - Genetic testing of embryos can look for genetic causes to repeated pregnancy losses.
    IVF Treatment Failure - one of the most common reasons why IVF doesn't work is related to genetic abmormalities within the embryos.


Gender Selection
Help having a boy or girl is now within reach of many couples. When a couple has a boy or girl already and would like to add to their family without having multiple children in order to have the desired sex, genetic screening can help. The X and Y chromosomes determine if you will have a boy or girl. By testing the chromosomes of the embryo, we can know if you will have a boy or girl before you become pregnant. This allows couples to balance their family by using gender selection. While the use of technology for this purpose is not acceptable to everyone, the technology is available to those who find family balancing desirable.
PGD for Recurrent Pregnancy Losses

Recurrent Pregnancy Loss (RPL) is defined as the occurrence of three or more consecutive losses of clinically recognized pregnancies prior to the 20th week of gestation (ectopic and molar pregnancies are not included). Evaluation of healthy women is not recommended after a single first trimester or early second trimester spontaneous miscarriage as these are relatively common, sporadic events. The risk of another pregnancy loss after two consecutive miscarriages is 24 to 29 percent, therefore, evaluation and treatment of RPL can reasonably be started after two consecutive miscarriages. Many doctors may advise their patients to wait until three losses to start a diagnostic evaluation. In many cases, there is not an identified cause for recurrent pregnancy losses. A very high percentage of pregnancy losses occur because of genetic or chromosome abnormalities occurring in the embryos. Some women have predisposing factors that cause them to have genetically abnormal embryos at a higher rate than other women even though she has a normal chromosome analysis herself.


Single Gene Disorders
There is a wide range of genetic diseases that can be evaluated using the genetic testing techniques. Current technology doesn't offer a cost effective way to screen for all of the disorders at once. It is more effective to screen for a genetic disorder that is known within the family. Testing for single gene disorders is more complicated than the other tests and often has higher costs. A blood sample may be needed in advance so that the genetics center can create a probe to identify the genetic abnormality within the embryos tested. More information will be provided to you during your consultation if you desire single gene testing. The following is a list of disorders that can be tested. This is only a sample list and many more diseases are add all the time thanks to ongoing research.
Alagille syndrome
Alpers disease
alpha 1 anti-trypsin
alpha-thalassemia
Alport syndrome
anti-Kell antibodies
Becker muscular dystrophy
beta-thalassemia
breast cancer, gene 1 & 2
carbamoyl phosphate synthetase deficiency
central core disease
cerebral arteriopathy (Cadasil)
Charcot-Marie-Tooth syndrome 1A & 1B
chronic granulomatosis disease (CGD)
congenital adrenal hyperplasia
congenital disorder of glycosylation
congenital nephrotic syndrome
connexin 26
Crigler-Najjar syndrome I
Crouzon syndrome
cystic fibrosis
Czech dysplasia
Dejerine-Sottas syndrome
Duchenne muscular dystrophy
early onset Alzheimer disease
early onset torsion dystonia
E-cadherin
ectodermal dysplasia
Emery Dreifuss muscular dystrophy
epidermolysis bullosa, dominant dystrophic
epidermolysis bullosa,
- Herlitz junctional, gene 1 or gene 2
epidermolytic palmoplantar keratosis
facioscapulohumeral muscular dystrophy
familial adenomatous polyposis
familial amytrophic lateral sclerosis
(Lou Gehrig's disease)

[rmmoye]

Thank you! My re is suggesting it due to them not knowing why i have mc 3 times. Plus several early + hpts that ended in me starting my period a day or two later.

He said with the genotype coming back normal on dh and i that this was the only way to know what was going on.  my research has not proven to be all positive so i wanted to know how some woman on here had done with it.

[Azwoman]

PGD is offered alot now.. My RE offers it, but yuo wont be able to do a fresh transfer. They will have to freeze your eggs and when the labs come back, then they do a FET with the approved eggs or embryos.

If someone's egg quality is borderline, this can be an issue as frozen eggs may not survive the thaw.. my friend has this happen and she had to forgo the PGD as RE didnt think it was a good idea to freeze them for the PGD.

But if they get alot of eggs from you, and you are over 35 or have had a history of losses, then I would do it.

[rmmoye]

Fechtner syndrome
fragile X
fumarase deficiency
galactosemia
Gaucher disease type 2
Goldberg-Shprintzen syndrome
Gorlin syndrome
haemophilia A or B
Hirschsprung's disease
HLA match for Wiskott-Aldrich syndrome
HLA match with beta thalassemia
HLA match with diamond blackfan anemia
HLA match with hyper IgM
HLA match with sickle cell anemia
HLA matching
Holt Oram Syndrome
Hunter syndrome (mucopolysaccharidosis II A)
Huntington disease
Hyper IgM
hypochondroplasia
hypophosphatasia
hypophosphatemic rickets
incontinentia pigmenti
infantile neuroaxonal dystrophy
juvenile neuronal ceroid lipofuscinosis
juvenile retinoschisis
late infantile neuronal ceroid lipofuscinosis
(Batten disease)
Lowe oculocerebrorenal syndrome
medium-chain acyl-CoA dehydrogenase deficiency
medullary thyroid carcinoma (RET)
metachromatic leukodystrophy
mucopolysaccharidosis III B
multiple endocrine neoplasia 2A
multiple hereditary exotoses
myotonic muscular dystrophy
myotubular myopathy
nail-patella syndrome




nemaline myopathy
nephrogenic diabetes insipidus
neurofibromatosis types 1
neurofibromatosis types 2
Norrie disease
oculocutaneous albinism
ornitrine transcarbamylase deficiency
osteogenesis imperfecta type 1
palmoplantar hyperkeratosis
Pendred syndrome
pericentric inversion of X
polycystic kidney disease, autosomal dominant, gene 1
polycystic kidney disease, autosomal dominant, gene 2
polycystic kidney disease, autosomal recessive
proximal myotonic myopathy
psoriasis, susceptibility gene
pulmonary alveolar proteinosis
retinoblastoma
rhesus D disease
Saethre-Chotzen syndrome
Sandhoff disease
sickle-cell anaemia
spinal muscular atrophy 1, 2, or 3
Stickler syndrome
thyroid cancer
transthyretin amyloidosis
Treacher-Collins syndrome
tuberous sclerosis, gene 1
tuberous sclerosis, gene 2
Ullrich congenital muscular dystrophy
vitelliform macular dystrophy
von Hippel-Lindau disease
Wilms tumour
Wiskott-Aldrich syndrome
Wolman disease
X-linked adrenoleukodystrophy
X-linked choroideremia
Zellweger syndrome