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Pre-Implantation Genetic Diagnosis (PGD)

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Embryo Genetic Testing can be performed through a process called Pre-implantation Genetic Diagnosis (PGD). This is a diagnosis testing option for couples at increased risk of passing on a chromosomal abnormality or specific genetic disorder on to their children. Couples choose PGD for many reasons, including minimising the risk of passing on a genetic disease to any offspring.

What is involved?

Patients are required to undergo a standard round of IVF. This is where the woman’s ovaries are stimulated through medication to increase the number of follicles that may contain an egg. Over the course of approximately 10 days she is monitored with blood tests and scans to track follicle development. Under sedation the eggs are collected, and later that day fertilised using the male partner’s sperm. Over the course of five days the egg and sperm are monitored to watch for fertilisation and development. For all those embryos that make it to a stage called Blastocyst on day five, they will be assessed for appropriateness for PDG.

PGD is where under microscope a very fine laser creates a little hole in the shell of the embryo and a small number of cells are removed from the embryo. These cells are taken from a part of the embryo that goes on to form the placenta. At this we cryopreserve the embryo until the results from the testing are made available. These biopsied cells are then used to identify if the embryo contains the gene that may go on to carry a genetic condition.

Once the results are made available and if an embryo is found to NOT contain the gene, the woman will under go a Frozen Embryo Transfer whereby her natural menstrual cycle is monitored and at the appropriate time the embryo is thawed and transferred into her uterus via thin plastic catheter under ultrasound guidance. This procedure is similar to a pap smear. It is hopeful that the embryo will go onto implant and develop into a healthy baby. If additional embryos were found to be clear from containing the gene the process can be repeated until a pregnancy occurs, or if pregnant, can be done at a later time to achieve siblings.

Karyomapping

Karyomapping is a single gene Pre Implantation Genetic Diagnosis test available at Fertility Tasmania.  Karyomapping is suitable for patients with a family history of a single gene disorder who are at risk of producing embryos that are affected by that single gene disorder.

What are the benefits of Karyomapping?

Karyomapping offers several significant benefits including:

  • A significant reduction in the timeframe required to perform the test. As the testing is performed on a standardised platform, there is no need to tailor design a specific test for each couple. As a result, the lead in time for testing is only 2-4 weeks.
  • Karyomapping has the potential to detect some chromosome abnormalities which may be associated with implantation failure, miscarriage, or abnormalities at birth. While the testing is not specifically designed to screen for chromosome abnormalities this does represent a significant improvement compared to the previous test used.
  • Karyomapping is more cost effective. This testing is charged at $720 per biopsied embryo, with the fee capped at $2720 per PGD cycle. Feasibility test is $1700.

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Open Hours

  • For all appointments and general enquiries:
    Monday to Friday: 8:00am - 5:30pm
  • After hours consulting (by appointment only):
    Wednesday: 5:30pm - 8:00pm

Address

  • Hobart

    Level 4
    81 Elizabeth Street
    Hobart TASMANIA 7000

    Postal Address:

    PO Box 4582
    Bathurst Street
    Hobart TASMANIA 7000

(Menopause (premature))
Menopause (premature) Menopause in women less than or equal to 35 years of age
Menopause (premature)
Menopause (premature) Menopause in women less than or equal to 35 years of age
(Biochemical Pregnancy)
Biochemical Pregnancy Fertilisation and implantation have occurred resulting in a positive pregnancy test. The pregnancy ends at a very early stage prior to ultrasound confirmation.
Biochemical Pregnancy
Biochemical Pregnancy Fertilisation and implantation have occurred resulting in a positive pregnancy test. The pregnancy ends at a very early stage prior to ultrasound confirmation.
(Anembryonic Pregnancy)
Anembryonic Pregnancy No foetal heartbeat is visible at the 6-8 week scan.
Anembryonic Pregnancy
Anembryonic Pregnancy No foetal heartbeat is visible at the 6-8 week scan.
(Menopause (early))
Menopause (early) Menopause in women less than 46 years of age
Menopause (early)
Menopause (early) Menopause in women less than 46 years of age
(Follicular Phase)
Follicular Phase First half of the menstrual cycle before ovulation
Follicular Phase
Follicular Phase First half of the menstrual cycle before ovulation
(Cryopreservation)
Cryopreservation Preservation (by freezing) of eggs, sperm or embryos
Cryopreservation
Cryopreservation Preservation (by freezing) of eggs, sperm or embryos
(Antagonist Cycle)
Antagonist Cycle A type of treatment process that requires the use of a medication that prevents ovulation during an IVF cycle
Antagonist Cycle
Antagonist Cycle A type of treatment process that requires the use of a medication that prevents ovulation during an IVF cycle
(Extended Culture)
Extended Culture The term used to describe growth of embryos in culture for 4-6 days
Extended Culture
Extended Culture The term used to describe growth of embryos in culture for 4-6 days
(Embryo Transfer)
Embryo Transfer Placement of embryo/s into the uterus
Embryo Transfer
Embryo Transfer Placement of embryo/s into the uterus
(Ultrasound Scan)
Ultrasound Scan An ultrasound wave scan of the uterus/ovaries/follicles for investigation of infertility and/or scan of the uterus for the confirmation of pregnancy
Ultrasound Scan
Ultrasound Scan An ultrasound wave scan of the uterus/ovaries/follicles for investigation of infertility and/or scan of the uterus for the confirmation of pregnancy
(Pituitary Gland)
Pituitary Gland The gland located at the base of the brain, which controls hormone functions in the human body
Pituitary Gland
Pituitary Gland The gland located at the base of the brain, which controls hormone functions in the human body
(Donation Embryo)
Donation Embryo The process where a couple donate frozen embryo/s to another party (recipients) for use in infertility treatment
Donation Embryo
Donation Embryo The process where a couple donate frozen embryo/s to another party (recipients) for use in infertility treatment
(Fallopian Tubes)
Fallopian Tubes Tubes that extend from the uterus to the ovary and serve as a passageway for the egg and sperm to meet. The fallopian tube is the place where fertilisation occurs
Fallopian Tubes
Fallopian Tubes Tubes that extend from the uterus to the ovary and serve as a passageway for the egg and sperm to meet. The fallopian tube is the place where fertilisation occurs
(Egg Timer Test)
Egg Timer Test A blood test and pelvic ultrasound scan to indicate the likely fertility status of a woman
Egg Timer Test
Egg Timer Test A blood test and pelvic ultrasound scan to indicate the likely fertility status of a woman
(Egg Collection)
Egg Collection Surgical collection of egg/s from the follicles in the ovary
Egg Collection
Egg Collection Surgical collection of egg/s from the follicles in the ovary
(Donation Sperm)
Donation Sperm The process where a male donor donates sperm to another party (recipient) for use in infertility treatment
Donation Sperm
Donation Sperm The process where a male donor donates sperm to another party (recipient) for use in infertility treatment
(Endometriosis)
Endometriosis A medical condition where the endometrium is located outside the uterus in the pelvic cavity
Endometriosis
Endometriosis A medical condition where the endometrium is located outside the uterus in the pelvic cavity
(Fertilisation)
Fertilisation The earliest stage of development after the penetration of the egg by a sperm
Fertilisation
Fertilisation The earliest stage of development after the penetration of the egg by a sperm
(Embryo Biopsy)
Embryo Biopsy The removal of one or two cells, from an early IVF embryo for preimplantation genetic screening
Embryo Biopsy
Embryo Biopsy The removal of one or two cells, from an early IVF embryo for preimplantation genetic screening
(Implantation)
Implantation The embedding of the embryo into the lining of the uterus
Implantation
Implantation The embedding of the embryo into the lining of the uterus
(Progesterone)
Progesterone Hormone produced by the ovary in the Luteal phase. Its main function is to change the growth of the endometrium and assist with the implantation of the embryo
Progesterone
Progesterone Hormone produced by the ovary in the Luteal phase. Its main function is to change the growth of the endometrium and assist with the implantation of the embryo
(Luteal Phase)
Luteal Phase The second half of the menstrual cycle after ovulation until the menstrual period
Luteal Phase
Luteal Phase The second half of the menstrual cycle after ovulation until the menstrual period
(Donation Egg)
Donation Egg The process where a female donor donates eggs to another party (recipient) for use in infertility treatment
Donation Egg
Donation Egg The process where a female donor donates eggs to another party (recipient) for use in infertility treatment
(Spermatozoon)
Spermatozoon Mature male sperm cell (gamete) produced by the testicle
Spermatozoon
Spermatozoon Mature male sperm cell (gamete) produced by the testicle
(Patent Tubes)
Patent Tubes A term used to describe fallopian tubes that are open allowing free passage for the egg, sperm and embryo
Patent Tubes
Patent Tubes A term used to describe fallopian tubes that are open allowing free passage for the egg, sperm and embryo
(Endometrium)
Endometrium The membrane that lines the inner surface of the uterus
Endometrium
Endometrium The membrane that lines the inner surface of the uterus
(Laparoscopy)
Laparoscopy Diagnostic procedure where an instrument (laparoscope) is inserted through a small incision just below the umbilicus, to enable visualisation of the pelvic cavity and its organs
Laparoscopy
Laparoscopy Diagnostic procedure where an instrument (laparoscope) is inserted through a small incision just below the umbilicus, to enable visualisation of the pelvic cavity and its organs
(Miscarriage)
Miscarriage Loss of pregnancy
Miscarriage
Miscarriage Loss of pregnancy
(Blastocyst)
Blastocyst An embryo five to six days after fertilisation.
Blastocyst
Blastocyst An embryo five to six days after fertilisation.
(Menopause)
Menopause The permanent cessation of menstruation following the loss of ovarian function
Menopause
Menopause The permanent cessation of menstruation following the loss of ovarian function
(Ovulation)
Ovulation The process of release of a mature egg from an ovary
Ovulation
Ovulation The process of release of a mature egg from an ovary
(Oestrogen)
Oestrogen A major female hormone that is produced primarily by the ovaries
Oestrogen
Oestrogen A major female hormone that is produced primarily by the ovaries
(In Vitro)
In Vitro Outside the body
In Vitro
In Vitro Outside the body
(Follicle)
Follicle A small secretory sac in the ovary in which an egg develops
Follicle
Follicle A small secretory sac in the ovary in which an egg develops
(Adhesion)
Adhesion Scar tissue, in particular between the abdominal and/or pelvic organs often the result of an infection/inflammation.
Adhesion
Adhesion Scar tissue, in particular between the abdominal and/or pelvic organs often the result of an infection/inflammation.
(Hormone)
Hormone A chemical substance, secreted by the endocrine glands, which is carried by the blood stream to the target organ influencing its activity, growth and nutrition
Hormone
Hormone A chemical substance, secreted by the endocrine glands, which is carried by the blood stream to the target organ influencing its activity, growth and nutrition
(Menevit)
Menevit Vitamin supplement for men containing anti oxidants to support sperm health
Menevit
Menevit Vitamin supplement for men containing anti oxidants to support sperm health
(In Vivo)
In Vivo Inside the body
In Vivo
In Vivo Inside the body
(Gamete)
Gamete The male and female reproductive cells (egg or sperm)
Gamete
Gamete The male and female reproductive cells (egg or sperm)
(Uterus)
Uterus Female reproductive organ where a pregnancy develops
Uterus
Uterus Female reproductive organ where a pregnancy develops
(Cervix)
Cervix Lower section of the uterus which protrudes into the top of the vagina.
Cervix
Cervix Lower section of the uterus which protrudes into the top of the vagina.
(Embryo)
Embryo After fertilisation the egg begins to divide and multiply and is now called an embryo
Embryo
Embryo After fertilisation the egg begins to divide and multiply and is now called an embryo
(Vagina)
Vagina Passageway between the external genitals and the uterus
Vagina
Vagina Passageway between the external genitals and the uterus
(Semen)
Semen Fluid containing sperm
Semen
Semen Fluid containing sperm
(OHSS)
OHSS Ovarian Hyperstimulation Syndrome. A group of symptoms which is associated with ovarian enlargement during IVF treatment cycle
OHSS
OHSS Ovarian Hyperstimulation Syndrome. A group of symptoms which is associated with ovarian enlargement during IVF treatment cycle
(Ovum)
Ovum Female gamete (egg) contained in a follicle
Ovum
Ovum Female gamete (egg) contained in a follicle
(ICSI)
ICSI Intracytoplasmic Sperm Injection, is a process where a single sperm is injected into an egg
ICSI
ICSI Intracytoplasmic Sperm Injection, is a process where a single sperm is injected into an egg
(PGS)
PGS Preimplantation Genetic Screening - the process of taking cells from an embryo to check the number of chromosomes or to test for a specific genetic abnormality
PGS
PGS Preimplantation Genetic Screening - the process of taking cells from an embryo to check the number of chromosomes or to test for a specific genetic abnormality
(FET)
FET Frozen Embryo Transfer, a procedure in which frozen embryo/s are thawed and then transferred to the uterus
FET
FET Frozen Embryo Transfer, a procedure in which frozen embryo/s are thawed and then transferred to the uterus
(HCG)
HCG Human chorionic gonadotrophin The hormone measured to diagnose a pregnancy
HCG
HCG Human chorionic gonadotrophin The hormone measured to diagnose a pregnancy
(ART)
ART Assisted Reproductive Technology - a collective term for the different types of infertility treatments.
ART
ART Assisted Reproductive Technology - a collective term for the different types of infertility treatments.
(IVF)
IVF In Vitro Fertilisation. A procedure in which an egg is removed from a follicle and fertilised by a sperm outside the human body. The resultant embryo can then be transferred into the uterus
IVF
IVF In Vitro Fertilisation. A procedure in which an egg is removed from a follicle and fertilised by a sperm outside the human body. The resultant embryo can then be transferred into the uterus
(FSH)
FSH Follicle Stimulating Hormone which is produced by the anterior pituitary gland and stimulates the growth of follicles in the female. FSH also induces the development of sperm in the testicle
FSH
FSH Follicle Stimulating Hormone which is produced by the anterior pituitary gland and stimulates the growth of follicles in the female. FSH also induces the development of sperm in the testicle
(LH)
LH Luteinising Hormone. Produced by the pituitary gland and responsible for stimulating ovulation
LH
LH Luteinising Hormone. Produced by the pituitary gland and responsible for stimulating ovulation