Preimplantation genetic diagnosis in an HIV-serodiscordant couple carrier for sickle cell disease: lessons from a case report

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 patie...

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Veröffentlicht in:Clinical genetics 2009-03, Vol.75 (3), p.277-281
Hauptverfasser: Gonzalez-Merino, E, Zengbe, V, Vannin, AS, Place, I, Bostan, A, Emiliani, S, Liesnard, C, Goffard, JC, Abramowicz, M, Englert, Y
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container_end_page 281
container_issue 3
container_start_page 277
container_title Clinical genetics
container_volume 75
creator Gonzalez-Merino, E
Zengbe, V
Vannin, AS
Place, I
Bostan, A
Emiliani, S
Liesnard, C
Goffard, JC
Abramowicz, M
Englert, Y
description 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.
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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.</abstract><cop>Oxford, UK</cop><pub>Blackwell Publishing Ltd</pub><pmid>19054017</pmid><doi>10.1111/j.1399-0004.2008.01119.x</doi><tpages>5</tpages></addata></record>
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subjects Adult
Anemia, Sickle Cell - complications
Anemia, Sickle Cell - diagnosis
Anemia, Sickle Cell - genetics
Anemias. Hemoglobinopathies
assisted reproductive technology
Biological and medical sciences
Diseases of red blood cells
Embryo, Mammalian - metabolism
Embryos
Family Characteristics
Female
Fundamental and applied biological sciences. Psychology
General aspects. Genetic counseling
Genetic disorders
Genetics of eukaryotes. Biological and molecular evolution
Hematologic and hematopoietic diseases
Hemoglobin, Sickle - genetics
HIV
HIV Seropositivity - complications
Human immunodeficiency virus
Humans
Male
Medical genetics
Medical sciences
Medical screening
Molecular and cellular biology
Pregnancy
Preimplantation Diagnosis
preimplantation genetic diagnosis
Reproductive technologies
serodiscordant couple
Sickle cell disease
title Preimplantation genetic diagnosis in an HIV-serodiscordant couple carrier for sickle cell disease: lessons from a case report
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