TABLE 1.
Diagnostic yields of chromosomal abnormalities and pCNVs from seven large case series of CMA on pregnancy losses.
| Publications | Clinical specimens | Methods | Total cases | Chr Abns | (%) | pCNVs | (%) | GDs a | (%) |
|---|---|---|---|---|---|---|---|---|---|
| Levy et al. (2014) | Miscarriages (<20 weeks of gestation) | CMA (Illumina CytoSNP‐12) | 1861 | 1106 | 59 | 12 | 0.64 | 11 | 0.59 |
| Zhou et al. (2016) | POC from SAB | CMA (Agilent 60K aCGH) | 1235 | 491 | 40 | 10 | 0.81 | 6 | 0.48 |
| Chen et al. (2017) | POC from SAB | CMA (Version 7.6 Oligo, Baylor), WGS | 2186 | 851 | 39 | 76 | 3.48 | 48 | 2.20 |
| Peng and Yuan (2018) | POC from SAB | CMA (Affymetric CytoScan 750K) | 2505 | 925 | 37 | 26 | 1.04 | 8 | 0.32 |
| Li et al. (2020) | Miscarriages | CMA (Agilent aCGH), lc‐NGS | 1401 | 570 | 41 | 120 | 8.57 | 3 | 0.14 |
| Wang et al. (2021) | Miscarriages (<13 weeks of gestation) | CMA (Affymetric CytoScan 750K), QF‐PCR, HLPA | 1042 | 616 | 59 | 7 | 0.67 | 6 | 0.60 |
| Finley et al. (2022) | POC (fresh/FFPE) from SAB | CMA (Illumina CytoSNP‐12) | 24,900 | 12,989 | 52 | 706 | 2.83 | 214 | 0.86 |
| Total | 35,130 | 17,548 | 49.90 | 957 | 2.50 | 296 | 0.80 |
Abbreviations: Chr Abns, chromosomal abnormalities; CMA, chromosome microarray analysis; HLPA, high‐throughput ligation‐dependent probe amplification; lcNGS, low‐coverage next‐generation sequencing; POC, products of conception; pCNVs, pathogenic copy number cvariants; SAB, spontaneous abortion; WGS, whole‐genome sequencing.
a
GDs, genomic disorders and syndromic pCNVs in Girirajan et al., 2012.