Gole L, Adrianne F, Ee AM, Ng BL, Baig S, Koay E, Biswas A, Choolani M
Correspondence: Dr Leena Gole, leenagole@gmail.com
ABSTRACT
Introduction This study aimed to refine the current quantitative fluorescent polymerase chain reaction (QF-PCR) screen to detect X chromosome anomalies for prenatal diagnosis in the major Southeast-Asian populations.
Methods 100 amniotic fluid samples from Chinese, Malay and Indian origins were subjected to QF-PCR using the X chromosome markers, HPRT, X22 and AMXY, along with the autosomal marker D21S1411.
Results Out of the 100 samples tested by markers X22 and HPRT, eight samples were homozygous for both markers, of which seven were resolved by comparison with the autosomal marker D21S1411.
Conclusion 99 percent of samples could be tested for X chromosome copy numbers, increasing the stringency for detection of X chromosome anomalies by QF-PCR. All results were confirmed by cytogenetics.
Keywords: amniotic fluid samples, cytogenetics, prenatal diagnosis, quantitative fluorescent polymerase chain reaction, Turner syndrome, X chromosome abnormalities
Singapore Med J 2008; 49(12): 1025-1028
