BioMed Research International / 2013 / Article / Tab 3

Review Article

Implementation of High Resolution Whole Genome Array CGH in the Prenatal Clinical Setting: Advantages, Challenges, and Review of the Literature

Table 3

Comparison between various studies which used array CGH in prenatal diagnosis.

StudyArray typeKaryotype/reason for referralResultsClinical significance of results

Kleeman et al., 2009 [16]Signature prenatal targeted BAC chip V, signature whole genome chipNormal karyotype/sonographic anomalies4/50 abnormal2% clinically significant, 6% inherited or benign variant

Vialard et al., 2009 [17]Targeted genosensor BAC/PAC arrayNormal karyotype/multiple congenital abnormalities4/37 abnormal10.8% clinically significant

Bi et al., 2008 [18]BCM V6 oligonucleotide arrayNormal karyotype/maternal age, sonographic anomalies, family history, and miscarriages3/15 abnormal13% clinically significant, 7% inherited or benign variant

Shaffer et al., 2008 [19]Prenatal targeted BAC array149/151 normal karyotype/maternal age, sonographic anomalies, family history, and parental anxiety15/151 abnormal1.3% clinically significant, 8% benign, and 0.5% unclear significance

Sahoo et al., 2006 [20]BCM V4 targeted BAC array93/98 normal karyotype/maternal age, sonographic anomalies, and family history5/98 abnormal of which one had additional abnormalities5% clinically significant

Tyreman et al., 2009 [7]GeneChip SNP whole genome oligonucleotide arraySonogramphic abnormalities35/106 abnormal9% 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 arrayNormal karyotype/maternal age, sonographic anomalies, family history, and anxietyWhole 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 arrayMaternal age, sonographic anomalies, family history, and anxiety34/1037 abnormal3.3% clinically significant, 13% benign variants.

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 abnormality1399/3822 (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 studyWhole genome105K or 180 K CytoChip oligo arrays Normal karyotype and sonographic anomalies, balanced rearrangements with or without sonographic anomalies, abnormal karyotype, or MLPA17/64 abnormal4.7%clinically significant, 10.9% inherited or benign variants, and 4.6% unclear significance