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      Successful pregnancy outcome after in vitro fertilisation following Pre-implantation Genetic Diagnosis/Polymerase Chain Reaction screening for single gene disorder (sickle cell anaemia) before embryo transfer: The clinical experience of an in vitro fertilisation clinic in Nigeria

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          Abstract

          A couple, both carriers of the sickle cell anaemia trait (Genotype HbAS) with an offspring already affected with the genetic disease underwent a Pre-implantation Genetic Diagnosis/Polymerase Chain Reaction screening of biopsied blastomeres. DNA analysis of single blastomeres was carried out to find out indicated a viable intra-uterine pregnancy with embryos which carried the sickle cell mutation, which resulted in a livebirth (HbAS). PGD/PCR in combination with IVF appears to be the most suitable treatment plan for patients who are at a higher risk of reproducing offspring affected with inheritable genetic diseases.

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          Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia.

          N Arnheim, K B Mullis, R K Saiki … (1985)
          Two new methods were used to establish a rapid and highly sensitive prenatal diagnostic test for sickle cell anemia. The first involves the primer-mediated enzymatic amplification of specific beta-globin target sequences in genomic DNA, resulting in the exponential increase (220,000 times) of target DNA copies. In the second technique, the presence of the beta A and beta S alleles is determined by restriction endonuclease digestion of an end-labeled oligonucleotide probe hybridized in solution to the amplified beta-globin sequences. The beta-globin genotype can be determined in less than 1 day on samples containing significantly less than 1 microgram of genomic DNA.
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            First unaffected pregnancy using preimplantation genetic diagnosis for sickle cell anemia.

            Z. Shi, M Xu, Robert J Hughes … (1999)
            Sickle cell anemia is a common autosomal recessive disorder. However, preimplantation genetic diagnosis (PGD) for this severe genetic disorder previously has not been successful. To achieve pregnancy with an unaffected embryo using in vitro fertilization (IVF) and PGD. Laboratory analysis of DNA from single cells obtained by biopsy from embryos in 2 IVF attempts, 1 in 1996 and 1 in 1997, to determine the genetic status of each embryo before intrauterine transfer. University hospital in a large metropolitan area. A couple, both carriers of the recessive mutation for sickle cell disease. Standard IVF treatment, intracytoplasmic sperm injection, embryo biopsy, single-cell polymerase chain reaction and DNA analyses, embryo transfer to uterus, pregnancy confirmation, and prenatal diagnosis by amniocentesis at 16.5 weeks' gestation. DNA analysis of single blastomeres indicating whether embryos carried the sickle cell mutation, allowing only unaffected or carrier embryos to be transferred. The first IVF attempt failed to produce a pregnancy. Of the 7 embryos analyzed in the second attempt, PGD indicated that 4 were normal and 2 were carriers; diagnosis was not possible in 1. Three embryos were transferred to the uterus on the fourth day after oocyte retrieval. A twin pregnancy was confirmed by ultrasonography, and subsequent amniocentesis revealed that both fetuses were unaffected and were not carriers of the sickle cell mutation. The patient delivered healthy twins at 39 weeks' gestation. This first unaffected pregnancy resulting from PGD for sickle cell anemia demonstrates that the technique can be a powerful diagnostic tool for carrier couples who desire a healthy child but wish to avoid the difficult decision of whether to abort an affected fetus.
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              A sensitive new prenatal test for sickle-cell anemia.

              J Chang, Y Kan (1982)
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                Author and article information

                Journal
                Journal ID (nlm-ta): Niger Med J
                Journal ID (iso-abbrev): Niger Med J
                Journal ID (publisher-id): NMJ
                Title: Nigerian Medical Journal : Journal of the Nigeria Medical Association
                Publisher: Medknow Publications & Media Pvt Ltd (India )
                ISSN (Print): 0300-1652
                ISSN (Electronic): 2229-774X
                Publication date (Print): Jan-Feb 2014
                Volume: 55
                Issue: 1
                Pages: 87-90
                Affiliations
                [1 ]Medical Assisted Reproductive Technology Centre, Ikeja, Lagos, Nigeria
                [2 ]Medical Assisted Reproductive Technology Centre, University of Illinois, Chicago, Illinois, USA
                Author notes
                Address for correspondence: Chizara Okeke, Medical Assisted Reproductive Technology Centre, Ikeja, Lagos, Nigeria. E-mail: justcynthy@ 123456yahoo.com
                Article
                Publisher ID: NMJ-55-87
                DOI: 10.4103/0300-1652.128181
                PMC ID: 4071672
                SO-VID: 6d6d1a3a-04ed-4472-af0c-659923321227
                Copyright © Copyright: © Nigerian Medical Journal
                License:

                This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                Categories
                Subject: Innovation

                ScienceOpen disciplines: Medicine
                Keywords: pgd/pcr,sickle cell anaemia,ivf,biopsy,fet
                Data availability:
                ScienceOpen disciplines: Medicine
                Keywords: pgd/pcr, sickle cell anaemia, ivf, biopsy, fet

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