An algorithm for the prenatal detection of chromosome anomalies by QF-PCR and G-banded analysis

作者：Speevak M D^*; Dolling J; Terespolsky D; Blumenthal A; Farrell S A

来源：Prenatal Diagnosis, 2008, 28(13): 1221-1226.

DOI：10.1002/pd.2159

• amniocentesis
• aneuploidy
• QF-PCR
• RAD
• trisomy

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 hits 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.

• 出版日期2008-12