Pregnancy outcome after preimplantation genetic diagnosis in an affected couple with X-linked adrenoleukodystrophy.
OBJECTIVE
To achieve a pregnancy free of X-linked adrenoleukodystrophy (X-ALD) by intracytoplasmic sperm injection (ICSI) and preimplantation genetic diagnosis (PGD).


METHODS
Case report.


METHODS
Clínica FIV Recoletos, a private IVF center.


METHODS
A couple in which the man had X-ALD.


METHODS
The ICSI protocol and PGD of the obtained embryos.


METHODS
Blastomeres were analyzed by fluorescence in situ hybridization using sex selection techniques. Embryos were transferred and pregnancy was diagnosed by hCG analysis and ultrasonographic examination.


RESULTS
Ten embryos were obtained by ICSI. A biopsy was taken from eight embryos to perform PGD and two male embryos were transferred resulting in a twin pregnancy.


CONCLUSIONS
This is the first registered gestation in which PGD has been used to prevent X-ALD transmission.
Iglesias
Miriam
M
Department of In Vitro Fertilization, Clínica FIV Recoletos, Ciudad Real, Spain. miriamen1@yahoo.es
Ceballos
Patricia
P
Giménez
Carles
C
García-Nebreda
Maria Isabel
MI
Domínguez
Raquel
R
García-Enguídanos
Alberto
A
D000326:Adrenoleukodystrophy / Q000175:diagnosis* / Q000235:genetics; D000328:Adult; D002887:Chromosomes, Human, Pair 18; D041321:Chromosomes, Human, X; D041322:Chromosomes, Human, Y; D004624:Embryo Transfer; D005260:Female; D005820:Genetic Testing; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D011247:Pregnancy; D011272:Pregnancy, Multiple; D019836:Preimplantation Diagnosis; D012732:Sex Determination Analysis; D012743:Sex Preselection; D020554:Sperm Injections, Intracytoplasmic; D014427:Twins; D055815:Young Adult