Genetic screening of prospective oocyte donors.
OBJECTIVE
To report our experience with genetic screening of oocyte donor candidates and to determine the frequency with which significant genetic issues are identified.


METHODS
Prospective genetic screening of oocyte donor candidates.


METHODS
University hospital oocyte donation program.


METHODS
Women presenting consecutively as volunteer oocyte donors.


METHODS
Genetic screening was performed by pedigree analysis and laboratory studies.


METHODS
Inclusion in the oocyte donor pool based on the results of clinical evaluation and laboratory tests consisting of polymerase chain reaction based mutational analysis for cystic fibrosis carrier status, cytogenetic analysis for karyotype, enzymatic assay for Tay-Sachs disease carrier status, and complete blood count and hemoglobin electrophoresis.


RESULTS
Eight (11%) of 73 oocyte donor candidates were excluded from the donor pool because of a potentially serious genetic finding. Cystic fibrosis mutations were identified in 5 candidates (7%), abnormal karyotypes were found in 2 (3.5%), and an autosomal dominant skeletal dysplasia was identified in 1 (1.4%).


CONCLUSIONS
A significant proportion of women who present as candidates for oocyte donation are inappropriate for donation because of their genetic history or genetic testing results. A thorough genetic evaluation, including a history and laboratory screening, is essential to any oocyte donation program to maximize positive outcomes in pregnancies achieved through assisted means.
Wallerstein
R
R
Human Genetics Program, Department of Pediatrics, New York University School of Medicine, New York, USA. waller01@mcrcr6.med.nyu.edu
Jansen
V
V
Grifo
J A
JA
Berkeley
A S
AS
Noyes
N
N
Licker
J
J
Licciardi
F
F
D000293:Adolescent; D000328:Adult; D003550:Cystic Fibrosis / Q000235:genetics; D005260:Female; D006580:Genetic Carrier Screening; D005820:Genetic Testing; D006801:Humans; D007621:Karyotyping; D018587:Oocyte Donation; D010009:Osteochondrodysplasias / Q000235:genetics; D012307:Risk Factors