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Fertil Steril. 2008 Nov;90(5):2011.e13-6. doi: 10.1016/j.fertnstert.2008.03.015. Epub 2008 Apr 28.

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

Author information

1
INVICTA Fertility and Reproductive Center, Institute of Obstetrics and Gynecology, Medical University of Gdansk, Gdansk, Poland. Joanna.Liss@invicta.pl

Abstract

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.

[Indexed for MEDLINE]

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