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

Liss, Joanna; Lukaszuk, Krzysztof; Bruszczyńska, Anna; Szczerkowska, Zofia; Rebala, Krzysztof

doi:10.1016/j.fertnstert.2008.03.015

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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.
- INVICTA Fertility and Reproductive Center, Institute of Obstetrics and Gynecology, Medical University of Gdansk, Gdansk, Poland
- Reprint 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.
- 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.
- INVICTA Fertility and Reproductive Center, Institute of Obstetrics and Gynecology, Medical University of Gdansk, Gdansk, Poland
Zofia Szczerkowska, M.D., Ph.D.
- Department of Forensic Medicine, Medical University of Gdansk, Gdansk, Poland
Krzysztof Rebala, Ph.D.
- Department of Forensic Medicine, Medical University of Gdansk, Gdansk, Poland

Received 10 April 2007; received in revised form 6 March 2008; accepted 6 March 2008. published online 28 April 2008.

Objective

To use preimplantation genetic diagnosis to achieve Smith-Lemli-Opitz syndrome -free pregnancies in two couples at high risk of producing an affected child.

Design

Case report.

Setting

A private IVF unit.

Patient(s)

Two couples carrying the W151X mutation in the DHCR7 gene.

Intervention(s)

Removal and testing for the W151X mutation in blastomeres from embryos after standard IVF.

Main Outcome Measure(s)

DNA analysis of blastomeres indicating whether corresponding embryos were mutation-free, for the purpose of transferring only unaffected embryos.

Result(s)

Delivery of healthy children without the W151X mutation in the DHCR7 gene.

Conclusion(s)

This is the first report of preimplantation genetic diagnosis for Smith-Lemli-Opitz syndrome, allowing transfer of mutation-free embryos and successful pregnancies.

Key Words: Preimplantation genetic diagnosis, Smith-Lemli-Opitz syndrome, nested PCR, W151X mutation in the 3 beta-hydroxysterol Delta(7)-reductase gene