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Effectiveness of prenatal chromosomal analysis using multicolour fluorescent in situ hybridisation
Author(s) -
Thilaganathan Baskaran,
Sairam Shanthi,
Ballard Terence,
Peterson Caroline,
Meredith Rodney
Publication year - 2000
Publication title -
bjog: an international journal of obstetrics and gynaecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.157
H-Index - 164
eISSN - 1471-0528
pISSN - 1470-0328
DOI - 10.1111/j.1471-0528.2000.tb11698.x
Subject(s) - biology , fluorescence in situ hybridization , karyotype , chromosome , fish <actinopterygii> , in situ hybridisation , prenatal diagnosis , cytogenetics , genetics , chromosomal analysis , chromosome abnormality , pathology , medicine , fetus , pregnancy , gene , fishery
Objective To evaluate the clinical effectiveness of multicolour fluorescent in situ hybridisation (FISH) analysis in routine prenatal diagnosis. Design Prospective study. Sample 3203 amniotic fluid samples. Methods Unique DNA (chromosomes 13 and 21) and α satellite centromeric‐specific (chromosomes X, Y and 18) probes were used in two mixes to permit the simultaneous analysis of several chromosomes. The performance of multicolour FISH and conventional cytogenetic analysis was compared. Results Conventional cytogenetic analysis identified 111 chromosomal abnormalities, of which 94 were potentially detectable by the FISH technique and 97 would be typically associated with neonatal phenotypic abnormalities. Multicolour FISH analysis detected 84% (93/111) of all chromosome abnormalities and 99% (93/94) of abnormalities where there was a specific probe. The sensitivity of multicolour FISH analysis was 95% (92/97) for chromosomal abnormalities likely to result in an abnormal postnatal outcome. Multiple ultrasound abnormalities were detected in all five cases of clinically relevant chromosomal abnormalities missed by multicolour FISH. FISH results were available within 48 hours and the sample failure rate was 0.1% (3/3202). Conclusion Multicolour FISH analysis is a sensitive and reliable technique for the rapid prenatal diagnosis of chromosomal abnormalities. Examining only five chromosomes allowed 95% of clinically relevant chromosomal abnormalities to be diagnosed correctly. As routine antenatal screening is targeted at the major autosomal trisomies and sex chromosome aneuploidies, multicolour FISH analysis may potentially replace conventional cytogenetic analysis in routine prenatal diagnosis.