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Diamond Blackfan Anaemia and Fertility treatments. Miss Jara Ben Nagi Consultant Gynaecologist and Subspecialist in Reproductive Medicine Centre of Reproductive and Genetic Health. Introduction. Diamond Blackfan anaemia is a rare inherited abnormality of impaired red blood cell production

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diamond blackfan anaemia and fertility treatments

Diamond Blackfan Anaemia and Fertility treatments

Miss Jara Ben Nagi

Consultant Gynaecologist and Subspecialist in Reproductive Medicine

Centre of Reproductive and Genetic Health

introduction
Introduction
  • Diamond Blackfan anaemia is a rare inherited abnormality of impaired red blood cell production
  • It was originally described by Diamond and Blackfan in 1938
  • It causes severe normochromic, macrocytic anaemia usually in infancy
  • Its is associated with psychomotor impairment, craniofacial and skeletal malformations
preimplantation genetic diagnosis
Preimplantation Genetic Diagnosis
  • Preimplantation genetic diagnosis (PGD) was developed out of a need to provide an alternative to prenatal diagnosis (PND) for couples at risk of transmitting a genetic disease to their children
preimplantation genetic diagnosis1
Preimplantation Genetic Diagnosis
  • The options for couples:
  • Remain childless
  • Not to undergo genetic testing (reproductive roulette)
  • Prenatal testing (CVS or amniocentesis)
  • PGD
  • Gamete donation
  • Adoption
preimplantation genetic diagnosis2
Preimplantation Genetic Diagnosis
  • Majority of couples opt for PND by CVS or amniocentesis
  • Both procedures take a few minutes
  • In DBA, 50% of the pregnancies will be affected
  • If pregnancy affected: consideration to continue or terminate the pregnancy
preimplantation genetic diagnosis3
Preimplantation genetic diagnosis
  • PGD has become an option to greatly reduce the risk of an affected child
  • This can be performed in families with a mutation found in a parent, in order to select and implant embryos without risk of DBA
preimplantation genetic diagnosis4
Preimplantation Genetic Diagnosis
  • PGD requires the input of professionals from a number of fields
  • clinicians
  • embryologists
  • geneticists
  • counsellors
  • Clinicians will investigate medical history and tailor IVF protocol, eventually collecting the eggs and transferring any healthy embryos
preimplantation genetic diagnosis5
Preimplantation Genetic Diagnosis
  • Embryologists will create and care for the embryos and
  • perform embryo biopsy (removal of the cell for diagnosis)
preimplantation genetic diagnosis6
Preimplantation Genetic Diagnosis
  • Geneticists will design the test that allows the detection of the mutation and perform the testing on the individual cells
  • Prior to coming through for treatment we require blood samples or cheek swabs from the couple, and sometimes an affected relative
  • These samples are used to isolate the DNA, which is used to make sure that the test designed is effective and can reliably detect the mutation within the family
  • Only then can we proceed to detecting this mutation within a single cell
preimplantation genetic diagnosis7
Preimplantation Genetic Diagnosis
  • Couples undergo IVF-ICSI
  • Stimulation of ovaries :
  • Hormones given by injections to stimulate the growth of follicles on the ovaries which contain eggs (9-11 days)
  • Once follicles reach certain size, trigger (HCG) injection given to mature the eggs
  • PT
preimplantation genetic diagnosis8
Preimplantation Genetic Diagnosis
  • Egg retrieval carried out under TVUS guidance and sedation
  • 34-37 hours after HCG trigger
  • Partner produces semen sample
preimplantation genetic diagnosis9
Preimplantation Genetic Diagnosis
  • IVF-Intra Cyotplasmic Sperm Injection
preimplantation genetic diagnosis10
Preimplantation Genetic Diagnosis
  • Embryo Biopsy:
    • Embryos are three days old, one cell is removed for genetic testing
    • These cells are sent to the genetics lab, where the DNA, genetic information, from the cells is read to see if the embryo will be affected
    • Healthy, unaffected embryos can be replaced in the womb when they are five or six days old
    • Misdiagnosis rate < 1%
preimplantation genetic diagnosis11
Preimplantation Genetic Diagnosis
  • Embryo transfer
  • Embryo are loaded into fine tube passed through vagina and cervix and into the womb
  • Replacement of unaffected embryo back into the womb
  • ESET
  • PT 14-16 days after ET
hypogonadotrophic hypogonadism
Hypogonadotrophichypogonadism
  • The pituitary gland does not produce hormones called gondadotrophins (FSH & LH), which results in the ovaries not producing sex hormones
  • Iron overload is a common sequela of multiple blood transfusions
hypogonadotrophic hypogonadism1
Hypogonadotrophichypogonadism
  • Amenorrhoea (absence of menstrual periods)
  • Absence of secondary sexual characteristics such as pubic and underarm hair
  • Underdeveloped breasts
  • Short stature (in some cases)
  • Pain during sexual intercourse
  • Underdeveloped and dry vagina (lack of lubrication)
  • Infertility
  • Loss of bone mass (osteoporosis)
  • Hot flushes
  • Sleep disturbances
  • Symptoms of urinary bladder discomfort (frequent urination, frequent urinary tract infections)
  • Heart disease
hypogonadotrophic hypogonadism2
Hypogonadotrophichypogonadism
  • Superovulation
  • Inject gonadotrophins (FSH & LH) on alternate days till 1-2 follicles reach a certain size (18 mm)
  • Monitor the growth and size of the follicles by TVUS
  • HCG trigger is given (follicle 18 mm)
  • Timed Sexual Intercourse or Intra Uterine Insemination (insemination of sperm into the womb)
hypogonadotrophic hypogonadism3
Hypogonadotrophichypogonadism
  • To help maintain the thickness of the lining of the womb and support any resulting pregnancy, vaginal gel/injections which contain progesterone are given
  • PT after 16 days

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