Birth of a healthy girl after preimplantation gender determination using a combination of polymerase chain reaction and fluorescent in situ hybridization analysis. Preimplantation Genetics Group.
OBJECTIVE
To perform preimplantation gender determination by a combination of polymerase chain reaction (PCR) sexing and fluorescent in situ hybridization technique using the directly labeled fluorescent alpha-satellite centromeric DNA probes for X and Y chromosomes.


METHODS
The IVF program of Illinois Masonic Medical Center.


METHODS
A couple requested preimplantation diagnosis because the mother is a carrier for hemophilia A.


RESULTS
Two blastomeres were aspirated from each of the four- to eight-cell embryos, and only the embryos with both fluorescent in situ hybridization and PCR results indicating female sex chromosomal complement were transferred, resulting in a singleton pregnancy and delivery of a healthy female infant, after prenatal confirmation of the diagnosis as female. The male embryos or embryos diagnosed as females only by PCR were followed up by confirmatory fluorescent in situ hybridization analysis demonstrating a discrepancy of PCR and fluorescent in situ hybridization results in four embryos, presumably because of a possible sperm contamination of the PCR reaction or chromosomal mosaicism.


CONCLUSIONS
The analysis of two blastomeres from the same embryo by a combination of PCR sexing and fluorescent in situ hybridization increases the reliability of preimplantation gender identification at the cleavage stage.
Verlinsky
Y
Y
Reproductive Genetics Institute, Illinois Masonic Medical Center, Chicago 60657, USA.
Rechitsky
S
S
Freidine
M
M
Cieslak
J
J
Strom
C
C
Lifchez
A
A
D000328:Adult; D001483:Base Sequence; D010064:Embryo Implantation; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D012743:Sex Preselection / Q000379:methods*