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Cumulative outcome of pre‐implantation genetic diagnosis for sickle cell disease: a 5‐year review
Author(s) -
Vali Saaliha,
Mukhtar Sunbal,
Nandi Anupa,
Wilson Kieren,
Oakley Laura,
ElToukhy Tarek,
OtengNtim Eugene
Publication year - 2020
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/bjh.16930
Subject(s) - medicine , embryo transfer , gynecology , ovarian reserve , intracytoplasmic sperm injection , andrology , preimplantation genetic diagnosis , antral follicle , hormone , in vitro fertilisation , embryo , pregnancy , biology , infertility , genetics
Summary To review the cumulative outcome of pre‐implantation genetic diagnosis (PGD) cycles performed for prevention of sickle cell disease (SCD). Couples referred for PGD for SCD between April 2012 and October 2017 were included. Ovarian stimulation was performed using a short gonadotrophin‐releasing hormone (GnRH) antagonist protocol and follicle‐stimulating hormone injections. The GnRH agonist was used to trigger oocyte maturation. Oocytes were fertilised using intracytoplasmic sperm injection. Trophectoderm biopsy was performed on day 5 or 6 followed by vitrification. Genetic testing was done using pre‐implantation genetic haplotyping. A total of 60 couples started 70 fresh PGD cycles (mean 1·2 cycles/couple) and underwent a total of 74 frozen‐embryo‐transfer (FET) cycles (mean 1·3 FET/couple). The mean (SD) female age was 33 (4·4) years and the mean (SD) anti‐müllerian hormone level was 22·9 (2·8) pmol/l. The cumulative live‐birth rate was 54%/PGD cycle started and 63%/couple embarking on PGD. The rate of multiple births was 8%. The cumulative outcome of PGD treatment for prevention of SCD transmission is high and PGD treatment should be offered to all at‐risk couples.

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