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


METHODS
Case report.


METHODS
A private IVF unit.


METHODS
Two couples carrying the W151X mutation in the DHCR7 gene.


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


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


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


CONCLUSIONS
This is the first report of preimplantation genetic diagnosis for Smith-Lemli-Opitz syndrome, allowing transfer of mutation-free embryos and successful pregnancies.
Liss
Joanna
J
INVICTA Fertility and Reproductive Center, Institute of Obstetrics and Gynecology, Medical University of Gdansk, Gdansk, Poland. Joanna.Liss@invicta.pl
Lukaszuk
Krzysztof
K
Bruszczyńska
Anna
A
Szczerkowska
Zofia
Z
Rebala
Krzysztof
K
D002585:Cesarean Section; D004624:Embryo Transfer; D005260:Female; D005820:Genetic Testing; D005865:Gestational Age; D006801:Humans; D007231:Infant, Newborn; D050498:Live Birth; D008297:Male; D009154:Mutation; D044925:Oxidoreductases Acting on CH-CH Group Donors / Q000235:genetics*; D011247:Pregnancy; D011272:Pregnancy, Multiple; D019836:Preimplantation Diagnosis; D019082:Smith-Lemli-Opitz Syndrome / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics / Q000517:prevention & control; D020554:Sperm Injections, Intracytoplasmic; D014427:Twins
D044925:Oxidoreductases Acting on CH-CH Group Donors; C019995:7-dehydrocholesterol reductase