title: Preimplantation genetic diagnosis in an HIV-serodiscordant couple carrier for sickle cell disease: lessons from a case report.
abstract: Since 1999, the Erasme Hospital Fertility Clinic has carried a special programme for patients with HIV seropositivity. The philosophy of the programme is to give access to these patients in a secure environment to the same technological facilities available to any other patients. Many of these patients being native from sub-Saharan countries, they are often sickle cell disease (SCD) carriers, a common autosomal recessive disorder in these regions, and a severe affection in homozygotes. We hereby report, for the first time, the birth of a healthy sickle haemoglobin (HbS) heterozygous baby after preimplantation genetic diagnosis (PGD) for SCD in an HIV-serodiscordant couple of HbS mutation carriers with longstanding infertility. The prospective mother was 35 years old and HIV positive with an undetectable viral load under highly active antiretroviral therapy. One carrier embryo was transferred and resulted in the birth of a healthy HbS carrier baby girl. Despite stimulation difficulties, sometimes described in HIV patients, PGD represents an interesting additional technology, especially in populations where the coexistence of both diseases is frequent. PGD could even be preferred to prenatal diagnosis for couples of HbS carriers if the woman is HIV positive, as invasive prenatal samplings carry a risk of materno-foetal viral transmission.
authors.affiliation: Department of Medical Genetics, Erasme Hospital, French-Speaking Free University of Brussles, Belgium. ergonzal@ulb.ac.be
authors.forename: E
authors.initials: E
authors.lastname: Gonzalez-Merino
authors.forename: V
authors.initials: V
authors.lastname: Zengbe
authors.forename: A S
authors.initials: AS
authors.lastname: Vannin
authors.forename: I
authors.initials: I
authors.lastname: Place
authors.forename: A
authors.initials: A
authors.lastname: Bostan
authors.forename: S
authors.initials: S
authors.lastname: Emiliani
authors.forename: C
authors.initials: C
authors.lastname: Liesnard
authors.forename: J C
authors.initials: JC
authors.lastname: Goffard
authors.forename: M
authors.initials: M
authors.lastname: Abramowicz
authors.forename: Y
authors.initials: Y
authors.lastname: Englert
mesh_terms: D000328:Adult; D000755:Anemia, Sickle Cell / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D004622:Embryo, Mammalian / Q000378:metabolism; D005191:Family Characteristics; D005260:Female; D006679:HIV Seropositivity / Q000150:complications*; D006451:Hemoglobin, Sickle / Q000235:genetics; D006801:Humans; D008297:Male; D011247:Pregnancy; D019836:Preimplantation Diagnosis
chemical_list: D006451:Hemoglobin, Sickle