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| Study | Array type | Karyotype/reason for referral | Results | Clinical significance of results |
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| Kleeman et al., 2009 [16] | Signature prenatal targeted BAC chip V, signature whole genome chip | Normal karyotype/sonographic anomalies | 4/50 abnormal | 2% clinically significant, 6% inherited or benign variant |
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| Vialard et al., 2009 [17] | Targeted genosensor BAC/PAC array | Normal karyotype/multiple congenital abnormalities | 4/37 abnormal | 10.8% clinically significant |
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| Bi et al., 2008 [18] | BCM V6 oligonucleotide array | Normal karyotype/maternal age, sonographic anomalies, family history, and miscarriages | 3/15 abnormal | 13% clinically significant, 7% inherited or benign variant |
|
| Shaffer et al., 2008 [19] | Prenatal targeted BAC array | 149/151 normal karyotype/maternal age, sonographic anomalies, family history, and parental anxiety | 15/151 abnormal | 1.3% clinically significant, 8% benign, and 0.5% unclear significance |
|
| Sahoo et al., 2006 [20] | BCM V4 targeted BAC array | 93/98 normal karyotype/maternal age, sonographic anomalies, and family history | 5/98 abnormal of which one had additional abnormalities | 5% clinically significant |
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| Tyreman et al., 2009 [7] | GeneChip SNP whole genome oligonucleotide array | Sonogramphic abnormalities | 35/106 abnormal | 9% likely pathogenic, 12% likely benign, and 13% unclear significance |
|
| Coppinger et al., 2009 [5] | Signature V 4.0, prenatal targeted BAC array, and whole genome array | Normal karyotype/maternal age, sonographic anomalies, family history, and anxiety | Whole genome: 22/180 abnormal
Targeted: 7/62 abnormal | Whole genome: 2.7% clinically significant, 0.5% unclear significance, and 8.8% benign variants
Targeted: 0.9% clinically significant, 0.5 unclear significance, and 8% benign variants |
|
| Fiorentino et al., 2011 [21] | Whole genome CytoChip focus BAC array | Maternal age, sonographic anomalies, family history, and anxiety | 34/1037 abnormal | 3.3% clinically significant, 13% benign variants.
|
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| Wapner et al., 2012 [22] | Agilent 44 K targeted array
Affymetrix Genome-Wide Human SNP Array 6.0 | Normal karyotype/maternal age, sonographic anomalies, abnormal serum biochemistry, family history, anxiety, and previous pregnancy with abnormality | 1399/3822 (36.6%) | 2.5% pathogenic and likely to be pathogenic, 32.3% common benign CNVs (34.1% if the likely to be benign VOUS is added), and 3.4% unclear significance (1.8% likely to be benign and 1.6% potential for clinical significance) |
|
| Our study | Whole genome105K or 180 K CytoChip oligo arrays | Normal karyotype and sonographic anomalies, balanced rearrangements with or without sonographic anomalies, abnormal karyotype, or MLPA | 17/64 abnormal | 4.7%clinically significant, 10.9% inherited or benign variants, and 4.6% unclear significance |
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