Aneuploidy in the miscarriages of infertile women and the potential benefit of preimplanation genetic diagnosis.
OBJECTIVE
To evaluate the frequency of specific aneuploidies in miscarriages in an infertility practice and calculate the potential sensitivities of the different aneuploidy screening options for preimplantation genetic diagnosis (PGD) in this setting.


METHODS
Retrospective analysis.


METHODS
Academic reproductive endocrinology and infertility practice.


METHODS
Women with miscarriages that had karyotype analysis on products of conception.


METHODS
None.


METHODS
Karyotype of spontaneous abortions compared with commercially available PGD options.


RESULTS
Of the 273 karyotypes analyzed, 177 (64.8%) were abnormal. The average age of the patients was 37 +/- 4.5 years. Using a limited five-probe panel, 54 of the 177 (31%) abnormal karyotypes would have been detected. In contrast, an extended PGD panel (using 9, 10, or 12 chromosome probes) would have detected 127, 131, and 140 of 177 abnormalities, 72%, 74%, and 79% respectively. The difference between the limited (5-probe) and extended (9-, 10-, and 12-probe) panels was statistically significant. There was not a statistically significant difference among the extended panels.


CONCLUSIONS
Most of the abnormalities seen in miscarriages are detectable by PGD with extended panels. A significantly higher percentage of these abnormalities could be detected by screening for 9, 10, or 12 chromosomes compared with only 5.
Lathi
Ruth B
RB
Division of Reproductive Endocrinology and Infertility, Stanford University Medical Center, Stanford, California 94305, USA. rlathi@stanford.edu
Westphal
Lynn M
LM
Milki
Amin A
AA
D000022:Abortion, Spontaneous / Q000453:epidemiology / Q000235:genetics*; D000465:Algorithms; D000782:Aneuploidy; D005260:Female; D006801:Humans; D015994:Incidence; D007247:Infertility, Female / Q000150:complications / Q000235:genetics*; D007621:Karyotyping; D011247:Pregnancy; D019836:Preimplantation Diagnosis; D012189:Retrospective Studies; D018570:Risk Assessment