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Early pregnancy loss is very common, approximately one in four women will experience a miscarriage in their lifetime. The etiology of pregnancy loss remains largely unknown, although genetic, anatomical, endocrinological and immunological abnormalities have been implicated. It is known that embryonic/fetal chromosomal aberrations contributed to approximately 50% of early pregnancy loss, among which 60-70% were aneuploidies, largely can be detected by the current gold standard karyotyping approach recommended by various international societies. However, the drawbacks of conventional karyotyping include the risk of culture failure, maternal cell contamination (MCC), limited detection resolution (5-10 Mb), and differential growth of specific cell lineages which could hinder the diagnosis of genetic abnormalities, particularly mosaicisms. Additional genetic factors beyond the resolution of
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