 Preimplantation Genetic
Diagnosis |
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| What Is PGD? |
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| Preimplantation Genetic Diagnosis (PGD) is a procedure
combining recent significant advances in molecular genetics and assisted
reproductive technology. PGD allows physicians to identify various genetic
diseases in the embryo (fertilized egg with several divisions) prior to
implantation, that is, before the pregnancy is established. It is of special
value for those who are at risk of having children with serious genetic
problems. |
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| Who Should Consider PGD? |
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| The primary candidates for PGD are couples who might
have been previously discouraged from having children of their own because
of the danger of transferring genetic problems to the next generation. When
the possibility of a genetic abnormality is identified, they are faced with
the difficult decision to terminate the pregnancy. This decision is especially
difficult for women who have had trouble conceiving and finally were able
to get pregnant only through one of the assisted reproductive technologies.
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| How Available Is PGD? |
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| Therefore, PGD is of enormous value to patients who
wish both to conceive a normal child and avoid the dilemma of termination.
PGD is a technically demanding and very complex procedure, which requires
specials skills. For this reason, it is available in only a handful of centers
in this country. |
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| Categories of Diseases |
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Preimplantation Genetic Diagnosis can be offered for three major categories
of diseases: sex linked diseases, molecular disorders, and chromosomal
disorders.
In the first category, it can be used to determine the sex of the embryo
for sex-linked disorders where the specific genetic defect is unknown, variable,
or unsuitable for testing on single cells. An example of this group is Duchenne
muscular dystrophy.
In the second category, PGD can be used to identify single-gene defects
such as cystic fibrosis, where the molecular abnormality is testable using
molecular techniques.
The last category includes chromosomal disorders, where a variety of chromosomal
rearrangements, including translocations, inversions, and chromosome deletions,
can be detected using Fluorescence In Situ Hybridization (FISH). Some potential
parents who carry a chromosomal rearrangement may have never achieved a
viable pregnancy if each previous conception resulted in a chromosomally
un- balanced embryo that miscarried spontaneously.
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Emedicine.com
PGD Article
Click
Here For A List Of Genetic Diseases We Can Presently Diagnose
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The number of diseases we can diagnose and
control the transmission of continues to grow.
Some diseases we are already able to test. Others
are being studied. If you are concerned about any
disease, please contact us to make sure that PGD
is available for your case.
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| Genetic Evaluation |
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The genetic laboratory is faced with the difficult task
of evaluating a single cell for a specific genetic
disorder or for sex determination. With the current
available technology, the PGD laboratory cannot
truly screen for multiple possible abnormalities.
It can only identify the presence or absence of a
specific disorder.
Various methodologies are used for this purpose,
depending on the genetic problem known to exist
in one or both parents. Only embryos proven not to
carry the genetic abnormality in question are used
for transfer or freezing.
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| Risks Of The Procedure |
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There may be a number of risks and/or possibilities
of complications. From the patient's point of view,
even after going through their treatment cycle
(In Vitro Fertilization and Preimplantation Genetic
Diagnosis), there is no certainty that pregnancy
will occur. In most patients the IVF technology can
produce embryos in vitro, but after they are
transferred back into the uterus no one can
guarantee that each embryo will implant.
Statistics indicate that younger patients have better
chances for successful implantation and ongoing
pregnancy than older patients. In general, the
chances decline in the mid-thirties and after.
There are also individual exceptions, when patients
below the age of thirty-five might be "poor
responders" to stimulation of ovaries and produce only a limited number of
eggs. On the other hand, patients who are in their
high thirties, or even forties, might respond very
well and produce a significant number of eggs
ready for fertilization. The general experience and
statistics are for informational purposes only.
Patients should be evaluated individually.
When the In Vitro Fertilization procedure is
combined with Preimplantation Genetic Diagnosis,
there are some handicaps and some advantages.
Obviously, biopsy of the developing embryo does
not make anything better. However, embryos that
are found to be genetically normal have an overall
better chance to implant and develop into an
ongoing pregnancy. It is also believed that
pregnancy rates with Preimplantation Genetic
Diagnosis might be better than in patients having
simple In Vitro Fertilization.
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The number of diseases we can diagnose and control the transmission of continues to grow.
Some diseases we are already able to test. Others are being studied.
If you are concerned about any disease, please contact us to make sure that
PGD is available for your case.
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For your convenience, please visit our Glossary
of Terms and Definitions
Preimplantation Genetic Diagnosis
Slideshow Presentation
If you have any questions about our clinic, staff and services,
or for more information, or to set up an appointment with our doctors,
please contact us at (310) 747-6014.
We help with all fertility treatment options including in vitro fertilization (IVF), PGD, Tubal ligation Reversal, IVF with PGD, Surrogacy, IVF with egg donor and many more procedures to have a baby of your dream, we are here for you.
Feel free to call us anytime, write us at our address, or send us an E - Mail in the form below.
We will contact you personally as soon as possible. Thank You.
Get a free phone consult 310-747-6014.
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| According to the March of Dimes |
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1 out of every 100 Americans is born with a serious genetic defect.
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Approximately 20,994 California babies are born with a birth defect annually.
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There are more than 4,000 known birth defects.
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Birth defects are the leading cause of death in the first year of life and account for
more than 1 in 5 infant deaths.
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For babies born with birth defects, estimated lifetime costs total 48 billion.
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According to the National Center for Health Statistics, in 1995, 11.6% or 453,722 babies
were born to women over 35.
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From the book "Planning Your
Pregnancy and Birth" by the
American College of Obstetrics
and Gynecologists:
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All human cells have 46 chromosomes each possessing
between 50 million and 250 million base pairs of DNA molecules in each chromosome.
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A gene is a segment of DNA that is coded to pass along a certain trait.
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The body has about 50,000 to 100,000 genes.
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There is a 1 in 4 chance of passing a genetic disorder on to the child if both partners carry
the disease.
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In the United States:
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About 1 in 625 African Americans has
sickle cell disease and 1 in 10 are carriers. |
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1 in 2,500 Caucasians have cystic fibrosis
and 1 in 25 are carriers. |
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About 1 in 800 babies is born with Down
Syndrome. |
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Facts from the American Society of
Reproductive Medicine:
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About 7% of stillbirths and neonatal deaths have chromosomal abnormalities.
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Recurrent miscarriages may be due to genetic abnormalities.
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Preimplantation Genetic Diagnosis - PGD was first performed in 1989.
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Nearly 200 babies that have been tested have been born
following the first PGD. |
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Over 200 disorders could potentially be prevented by using PGD to screen gender-based disorders.
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| PGD and Cancer Prevention |
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Preimplantation Genetic Diagnosis can also be
offered for the prevention of cancer in families
with a history of a determined cancer.
The exact cause of Cancer is unknown. Men or
women with familial history of a determined
Cancer are at an increased risk, lending
support to the belief that Cancer may be
hereditary in some cases. Some cases of
Cancer have been traced to genetic abnor-
malities. For example, looking at breast cancer,
those without the genetic background and
genetic line have a risk of 2% to 10% of
developing breast cancer, depending on age.
However, those with a definite genetic line face
a higher danger, up to 70%, of developing
cancer of the breast.
In cancers that are more prevalent in one
gender than the other, as in the case of
Prostate Cancer, which exclusively occurs
among males, PGD will reduce the chances
of having an affected child.
The Preimplantation Genetic Diagnosis can
find the gender of the embryo prior to
implantation inside the uterus. Using PGD to
implant only female embryos will ensure the
couple with a strong family history of this
disease that their child will not be affected
with Prostate Cancer.
Couples should consult with a genetic
counselor about their actions. PGD can
currently test for a variety of diseases,
inclusive of X-linked diseases, and those
that primarily affect a specific gender. PGD
is continuously being improved so we may be
able to test for more and more genetic
disorders in the near future.
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