Comparative genomic hybridization and prenatal diagnosis

Abstract

We believe that array-CGH will be embraced as a tool for prenatal diagnosis of chromosomal defects, but its introduction into clinical practice should proceed with caution by experienced laboratories.

Genome-Wide Array-Based Copy Number Profiling in Human Placentas From Unexplained Stillbirths

“…Thus, the higher resolution provided by arrays suggests that they can be used as an alternative or at least a complementary method to standard karyotype analysis and FISH for examining genomic abnormalities in unexplained stillbirths. While the cost of clinical array-based copy number analysis is still higher than that of standard karyotyping, it is expected to continue to decrease as development will improve automation to facilitate high-throughput sample processing, data analysis, and reliable result reporting (22). We propose that the nominal difference in cost between the two approaches is well balanced by the higher resolution of genomic abnormalities in stillbirths provided by an array.…”

Reliable detection of Trisomy 21 using MALDI-TOF mass spectrometry

“…The euploid samples had an average of 5.00 informative SNPs (range 1-11), and 23 of these (8.3%) had only 1 or 2 informative SNPs. In contrast, trisomy 21 samples had an average of 7.58 informative SNPs (range [3][4][5][6][7][8][9][10][11], and none of these had Ͻ3 informative SNPs. This difference may have contributed to the increased number of probable unaffected calls within the nontrisomy 21 samples.…”

“…A rapidly developing molecular method for detection of abnormalities in chromosome number makes use of microarray-based comparative genomic hybridization (array CGH) analysis. 6 Array CGH has been recently shown to be able to detect abnormalities in chromosome number, including trisomy 13, 18 and 21 and monosomy X, from cell-free DNA from amniotic fluid supernatant as well as single cells. [7][8][9] Extensive work has been performed on molecular methods making use of frequently occurring genetic loci such as short tandem repeats (STR) or single nucleotide polymorphisms (SNP) to analyze chromosome number.…”

Rapid aneuploidy detection or karyotyping? Ethical reflection

“…59 This would not only lead to faster and cheaper prenatal chromosomal tests, but would also allow a larger number of subtle chromosomal abnormalities (deletions and insertions) and associated genetic syndromes to be detected. 93 Looked at from a theoretical perspective, creating a complete genome profile is not a very big step further down the line. Now that it is also possible to obtain DNA using non-invasive techniques by isolation from maternal plasma, eventually all pregnant women could theoretically be offered screening for thousands of genetic variations at the same time.…”