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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


  • 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

  • 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

  • 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

  • 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

  • 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