Fig. 1: Genome haplarithmisis reveals previously undetected chromosomal aberrations.
From: Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss
a, Study design and distribution of aberrations. b, Maternal, paternal and gestational age in conventional karyotyping of POC samples with normal (n = 866) and abnormal (n = 879) karyotypes and in genome haplarithmisis POC samples with normal (n = 61) and abnormal (n = 33) genomes (two-sided Welch’s t-test). The box plot represents the 25th percentile, median and 75th percentile, respectively, and the whiskers extend to the farthest data point that is no more than 1.5 times the interquartile range (IQR) from the upper or lower quartile. c, Parental and segregational origin of aberrations, aberration size (segmental, chromosomal and genome wide) and copy number (gain, loss and neutral) of unique aberrations per POC sample for the RPL cohort (n = 20) and the SPL cohort (n = 19). d, Parental and segregational origin of genomic aberration per chromosome, including each unique aberration per POC sample. PL, pregnancy loss. ND, not determined; POC, product of conception; SPL, sporadic pregnancy loss; RPL, recurrent pregnancy loss.
