Prenatal diagnosis using interphase fluorescence in situ hybridization (FISH): 2‐year multi‐center retrospective study and review of the literature

Abstract

Since 1993, the position of the American College of Medical Genetics (ACMG) has been that prenatal interphase fluorescence in situ hybridization (FISH) is investigational. In 1997, the FDA cleared the AneuVysion assay (Vysis, Inc.) to enumerate chromosomes 13, 18, 21, X and Y for prenatal diagnosis. Data is presented from the clinical trial that led to regulatory clearance (1379 pregnancies) and from retrospective case review on 5197 new pregnancies. These studies demonstrated an extremely high concordance rate between FISH and standard cytogenetics (99.8%) for specific abnormalities that the AneuVysion assay is designed to detect. In 29 039 informative testing events (6576 new and 22 463 cases in the literature) only one false positive (false positive rate = 0.003%) and seven false negative results (false negative rate = 0.024%) occurred. A historical review of all known accounts of specimens tested is presented (29 039 using AneuVysion and 18 275 specimens tested with other probes). These performance characteristics support a prenatal management strategy that includes utilization of FISH for prenatal testing when a diagnosis of aneuploidy of chromosome 13, 18, 21, X or Y is highly suspected by virtue of maternal age, positive maternal serum biochemical screening or abnormal ultrasound findings.

Diagnostyka rearanżacji genu SHOX u kobiet 46,XX z idiopatyczną niskorosłością

“…Many authors emphasise the fact that the MLPA method is sensitive to DNA quality. The rate of failures, when carrying out the test, was comparable with the rate of studies, in which neither the QF-PCR method nor the FISH method gave informative results, which were 0.1-3.7% and 0.0-4.9%, respectively [23][24][25][26][27][28][29]40]. Taking into account the above observations, and ensuring DNA of good quality, the MLPA technique may be recommended as diagnostic standard.…”

“…Tests that enable the identification of selected chromosome aberrations by other methods are increasingly common: FISH (fluorescence in situ hybridization), QF-PCR (quantitative fluorescence polymerase chain reaction), and MLPA (multiplex ligation-dependent probe amplification) [20][21][22][23][24][25][26][27][28][29][30][31][32]. These methods, having comparable efficacy and diagnostic reliability, making it possible to diagnose SHOX gene rearrangements [33].…”

Invasive Prenatal Diagnosis

“…Maternal cell contamination may cause misdiagnosis, if only maternal cells are examined or mosaicism is suspected. The rate of maternal cell contamination is 1-3 per 1000 cases, but this figure should probably be doubled as maternal cell contamination is only detected when the fetus is male (Tepperberg et al,2001). A large study (Welch et al,2006) sought to relate the frequency of maternal cell contamination in amniotic fluid samples that were submitted to a single laboratory for cytogenetic analysis to the experience and training of the physician who performed the amniocentesis.…”

Evaluation of Microfluidics-FISH method in prenatal diagnosis

“…FISH, introduced to prenatal diagnosis in 1992 has proved to be effective and reliable method of detection on uncultured samples and considerably reduced reporting time [4][5][6]. Most centers applying this technique use commercially validated probe sets, which are expensive, and the protocols that are labor-intensive and time-consuming [7].…”