Karyotype Versus Microarray Testing for Genetic Abnormalities After Stillbirth

Abstract

Background-Genetic abnormalities have been associated with 6 to 13% of stillbirths, but the true prevalence may be higher. Unlike karyotype analysis, microarray analysis does not require live cells, and it detects small deletions and duplications called copy-number variants.

Genomic imbalances in pediatric patients with chronic kidney disease

“…In recent years, chromosomal microarray analysis has emerged as a major diagnostic tool for evaluation of congenital anomalies or neuropsychiatric disorders (7,8,25). Our data further support the utility of this technology for diagnosis of pediatric CKD.…”

“…Each one of the 131 known genomic disorders had frequencies of 1% or less in controls. The criteria for likely pathogenic and reportable CNVs were adapted from prior recommendations for interpretation of microarray data (7,8,25,29): (a) CNV size of 500 kb or greater, with frequency of 0.02% or less in controls and absence in the CHOP cohort (since this represents a reference healthy pediatric population; ref. 30) and (b) partial overlap with a known genomic disorder or overlap with likely pathogenic CNVs reported in the International Standards for Cytogenomic Arrays (ISCA) database (http://www.ncbi.…”

Chromosomal Microarray Versus Karyotyping for Prenatal Diagnosis

“…6,7 In this issue of the Journal, Reddy and colleagues demonstrate the incremental value of chromosomal microarray in the analysis of stillborn pregnancies. 8 As compared with karyotyping, microarray analysis had a higher likelihood of obtaining a result and identified an increased incidence of genomic abnormalities among stillborn infants.…”

The Maternal-Fetal Medicine: An Update

“…The latter issue is being addressed by the establishment of large databases of both healthy and affected individuals, with post-natal follow-up (indeed, databases derived from post-natal populations cannot be extrapolated to fetal populations). Currently, microarrays are recommended in the presence of: 1) fetuses with structural anomalies and normal karyotype (approximately 5%-10% of them will be found to have microdeletions or microduplications of clinical significance); in stillbirth: a large study has found that use of CGH compared with traditional karyotyping significantly increases the yield (87% vs 70%, p<0.01) and the detection of aneuploidy or pathogenic genomic imbalances (8% vs 6%, p<0.01), independently from the presence of anomalies [14]. It is expected that microarrays will soon replace traditional karyotyping (few karyotyped cells per sample will still be required in addition to CGH to detect triploidies and balanced translocations).…”