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The Institute for Reproductive Medicine and Science (IRMS)
at Saint Barnabas Medical Center is one of only three programs
in the country — and the only site in the eastern U.S,
--–– to offer single gene embryo testing for a
wide variety of genetic diseases. The test, which is performed
on embryos prior to fertilization or implantation and has
an 85 to 95 percent accuracy rate, is designed to prevent
abnormal pregnancies and eliminate the agonizing dilemma regarding
termination.
"Couples who know they are carriers for a particular
condition have the option of testing the embryos before conception
rather than waiting until after a pregnancy has occurred," says
Serena H. Chen, M.D., Division Director at the Institute. "We
test the embryos for specific diseases and facilitate conception
with disease-free embryos. Many patients already have a child
with a disease and they are concerned about having another
affected child."
By using single gene testing through their world-renowned
Preimplantation Genetic Diagnosis (PGD) program, IRMS offers
hope of a normal pregnancy. PGD is performed after a couple
has created embryos through in vitro fertilization (IVF).
Before implanting the embryos, the PGD team tests the embryos
for the couple's genetic mutation. By testing the first and
second polar bodies of the embryos for the specific genetic
disease, geneticists can determine whether the woman's eggs
carry the corresponding condition. Healthy embryos that appear
to be genetically normal are implanted in the womb.
IRMS is now offering single gene testing for the following
diseases:
- Cystic fibrosis
- a- thalassaemia
- b- thalassaemia
- Breast cancer (BRCA1/BRCA2)
- Dehydrogenase deficiency (MCAD)
- Duchenne muscular dystrophy
- Fanconi anemia
- Fragile X syndrome
- Gaucher disease
- Hemophilia
- Incontinentia Pigmenti\
- Lesch-Nyhan syndrome
- Marfan syndrome
- Medium chain acyl-CoA
- Myotonic dystrophy
- Osteogenesis imperfecta
- Phenylketonuria
- Retinitis pigmentosa
- Sickle cell anemia
- Spinal muscular atrophy
- Tay-Sachs disease
- Von Hippel-Lindau disease
- The team may be able to test for
diseases other than the ones on the list, but these would
need to be assessed on a case by case basis. Please call
(973) 322-8286.
IRMS is already
one of the major centers for PGD in the world. The Director
of the Preimplantation Genetic Diagnosis Team, Santiago Munne,
Ph.D., who performed the procedure more than 400 times last
year, is one of the leading pioneers of PGD in the world.
For the past few years the Institute has been successfully
offering PGD to women who experience recurrent miscarriage
and infertility.
"We hope that our service helps more and more couples
as the public becomes educated about what is available," says
Dr. Chen, who estimates that the IRMS will perform 220 cases
in 2004.
IRMS of Saint Barnabas is one of the nation's leading fertility
centers, providing patients with state-of-the-art clinical
infertility treatment, supported by the latest scientific
knowledge and laboratory techniques. The infertility services
offered include: in vitro fertilization (IVF), preimplantation
genetic diagnosis (PGD), intracytoplasmic sperm injection
(ICSI), embryo microsurgery (Assisted hatching and fragment
removal) embryo freezing, and blastocyst transfer. Other services
include egg donation, psychological support services, and
genetic counseling. The Institute's success in treating both
male and female infertility is evidenced by the IRMS' pregnancy
rates, which are among the highest in the world.
PGD and single gene testing fees are in addition to the
cost of in vitro fertilization and embryo transfer, the latter
two of which may be covered by individual insurance through
the New Jersey Family Building Act.
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