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An algorithm for the prenatal detection of chromosome anomalies by QF‐PCR and G‐banded analysis
Author(s) -
Speevak M. D.,
Dolling J.,
Terespolsky D.,
Blumenthal A.,
Farrell S. A.
Publication year - 2008
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.2159
Subject(s) - prenatal diagnosis , chromosome , chromosome analysis , algorithm , genetics , computer science , karyotype , medicine , computational biology , biology , fetus , pregnancy , gene
Objective The objective of this study was to examine in theory the clinical utility of a prenatal algorithm that uses rapid aneuploidy detection in all cases and G‐banded analysis for selected cases (RAD/G algorithm). Methods Over a 4‐year period, amniotic fluid samples were prospectively assigned into RAD (limited analysis) or RAD/G (intensive analysis) categories based upon the likelihood of the fetus having a chromosome anomaly. The samples were cultured and analyzed by standard cytogenetic methods. The rates of clinically significant chromosomal anomalies potentially undetectable by the RAD/G algorithm were calculated. Results The karyotype was normal in 3861/4054 (95.24%) cases and abnormal in 193 (4.76%). From these data, the detection rate of the RAD/G algorithm was 87.6% if all abnormalities detected by G‐banding were taken into consideration and 97.6% if abnormalities having reduced predictive value were excluded (balanced rearrangements and most mosaic cases). Conclusions Compared to G‐banding alone, the RAD/G algorithm has a reduction in sensitivity due to undetectable abnormalities and mosaicism in the RAD group. However, it provides a rapid and inexpensive alternative to traditional G‐banded analysis, and might be more appropriate for patients with uncomplicated, low risk pregnancies. Copyright © 2008 John Wiley & Sons, Ltd.