Abstract
BackgroundChromosomal abnormality is one of the major cause of spontaneous abortion. Most available guidelines suggest genetic testing after three miscarriages, which has been proved to be difficult to adhere to and somewhat of low cost-effectiveness. As chromosomal microarray analysis has been recommended to be applied on miscarriage products, we managed a retrospective study on our experience investigate the potential impact of this technique on previous guidelines and our present management on miscarried couples and products.ResultsOf the 405 products of conceptions, the overall detection rate of pathogenetic results was 55.3% (224/405), including 7.1% (16/224) copy number changes which could be missed by conventional karyotyping analysis. Of the 222 natural conception samples, abnormal genetic results were found in 126 cases (56.8%). The detection rate in the assistant reproductive treatment group was 53.6% (98/183). No significant difference was found between these two groups (p = 0.645, OR = 1.110 with 95% CI: 0.713–1.726). The detection rate was 53.2% (75/141) in 141 product-of-conceptions (POCs) of mothers with adverse pregnancy histories. Of the 264 POC samples of mothers without abnormal pregnancy histories, 56.4% (149/264) were genetically abnormal. The detection rate and maternal age between these two groups were all compatible.ConclusionsChromosomal microarray testing should be referred to couples at their first miscarriage regardless of the way how they get pregnant.
Highlights
Chromosomal abnormality is one of the major cause of spontaneous abortion
A good bunch of etiologies have been established to be related to pregnancy loss, among which, chromosomal abnormalities or genetic imbalances of the embryos or fetus have long been recognized as one of the major cause of miscarriage
Of the 405 products of conceptions, gestational ages ranged from 5 weeks to 19 weeks and 6 days
Summary
Most available guidelines suggest genetic testing after three miscarriages, which has been proved to be difficult to adhere to and somewhat of low cost-effectiveness. Pregnancy loss at any gestational age could be a catastrophic incident for the woman and her family. Seeking the potential cause is an effective way to estimate the recurrent risk and to take precautions to avoid another pregnancy loss. A good bunch of etiologies have been established to be related to pregnancy loss, among which, chromosomal abnormalities or genetic imbalances of the embryos or fetus have long been recognized as one of the major cause of miscarriage Established in cytogenetic ages, most available practical guidelines mainly suggest genetic testing on a third miscarriage [2, 11, 23]. Even the most recent guidelines did not change the opinion [26].
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