Fertility and Sterility
Volume 90, Issue 5 , Pages 2011.e13-2011.e16 , November 2008

Pregnancy and life after preimplantation genetic diagnosis of Smith-Lemli-Opitz syndrome

  • Joanna Liss, Ph.D.

      Affiliations

    • INVICTA Fertility and Reproductive Center, Institute of Obstetrics and Gynecology, Medical University of Gdansk, Gdansk, Poland
    • Corresponding Author InformationReprint requests: Joanna Liss, Ph.D., INVICTA Fertility and Reproductive Center, ul. Rajska 10, 80-850 Gdansk, Poland (FAX: 48-58-7631476).
    • ,
  • Krzysztof Lukaszuk, M.D., Ph.D.

      Affiliations

    • INVICTA Fertility and Reproductive Center, Institute of Obstetrics and Gynecology, Medical University of Gdansk, Gdansk, Poland
    • Department of Gynecologic Endocrinology and Infertility Treatment, Institute of Obstetrics and Gynecology, Medical University of Gdansk, Gdansk, Poland
    • ,
  • Anna Bruszczyńska, M.Sc.

      Affiliations

    • INVICTA Fertility and Reproductive Center, Institute of Obstetrics and Gynecology, Medical University of Gdansk, Gdansk, Poland
    • ,
  • Zofia Szczerkowska, M.D., Ph.D.

      Affiliations

    • Department of Forensic Medicine, Medical University of Gdansk, Gdansk, Poland
    • ,
  • Krzysztof Rebala, Ph.D.

      Affiliations

    • Department of Forensic Medicine, Medical University of Gdansk, Gdansk, Poland

Received 10 April 2007 ,Revised 6 March 2008 ,Accepted 6 March 2008.

References 

  1. Moebius FF, Fitzky BU, Lee JN, Paik YK, Glossmann H. Molecular cloning and expression of the human delta 7 sterol reductase. Proc Natl Acad Sci USA. 1998;95:1899–1902
  2. Romano F, Fiore B, Pezzino FM, Longombardo MT, Cefalu AB, Noto D, et al. A novel mutation of the DHCR7 gene in a Sicilian compound heterozygote with Smith-Lemli-Opitz syndrome. Mol Diagn. 2005;9:201–204
  3. Correa-Cerro LS, Porter FD. 3beta-hydroxysterol Delta7-reductase and the Smith–Lemli–Opitz syndrome. Mol Genet Metab. 2005;84:112–126
  4. Kelley RI. Inborn errors of cholesterol synthesis. Adv Pediatr. 2000;47:1–53
  5. Kelley RI, Hennekam RCM. The Smith Lemli-Opitz syndrome. J Med Genet. 2000;37:321–335
  6. Nowaczyk MJM, Waye JS. The Smith Lemli-Opitz syndrome: a novel way of understanding developmental biology, embryogenesis and dysmorphology. Clin Genet. 2001;59:375–386
  7. Jezela-Stanek A, Malunowicz EM, Ciara E, Popowska E, Goryluk-Kozakiewicz B, Spodar K, et al. Maternal urinary steroid profiles in prenatal diagnosis of Smith-Lemli-Opitz syndrome: first patient series comparing biochemical and molecular studies. Clin Genet. 2006;69:77–85
  8. Shinawi M, Szabo S, Popek E, Wassif CA, Porter FD, Potocki L. Recognition of Smith-Lemli-Opitz syndrome (RSH) in the fetus: utility of ultrasonography and biochemical analysis in pregnancies with low maternal serum estriol. Am J Med Genet A. 2005;138:56–60
  9. Lukaszuk K, Liss J, Lukaszuk M, Maj B. Optimization of estradiol supplementation during the luteal phase improves the pregnancy rate in women undergoing in vitro fertilization-embryo transfer cycles. Fertil Steril. 2005;83:1372–1376
  10. Fitzky BU, Witsch-Baumgartner M, Erdel M, Lee JN, Paik YK, Glossmann H, et al. Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome. Proc Natl Acad Sci USA. 1998;95:8181–8186
  11. Applied Biosystems. ABI Prism BigDye Terminator Cycle Sequencing Ready Reaction Kits, original and version 2.0. Foster City, CA: Applied Biosystems; 2000;
  12. Ciara E, Popowska E, Piekutowska-Abramczuk D, Jurkiewicz D, Borucka-Mankiewicz M, Kowalski P, et al. SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations. Eur J Med Genet. 2006;49:499–504
  13. Handyside AH, Lesko JG, Tarin JJ, Winston RM, Hughes MR. Birth of a normal girl after in vitro fertilization and preimplantation diagnosis testing for cystic fibrosis. N Engl J Med. 1992;327:905–909

 J.L. has nothing to disclose. K.L. has nothing to disclose. A.B. has nothing to disclose. Z.S. has nothing to disclose. K.R. has nothing to disclose.

PII: S0015-0282(08)00586-4

doi: 10.1016/j.fertnstert.2008.03.015

Fertility and Sterility
Volume 90, Issue 5 , Pages 2011.e13-2011.e16 , November 2008

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