Introduction: The most common chromosomal abnormalities detected in perinatal period are aneuploidies of chromosome 21, 18, 13, X and Y. The aim of this study is to assess referral reasons for invasive diagnostic method using rapid QF-PCR for fetal chromosomal abnormalities in gynecologists’ referrals.
Methods: A retrospective study of results was performed on data between September 2015 and July 2016 at Mashhad Hope Generation Genetic Polyclinic for genetic examination. In order to prenatal diagnostic procedures, 333 amniotic fluid or CVS samples were received in our genetics polyclinic. DNA were analyzed with the QF-PCR technique by employing 26 short tandem repeat (STR) markers to detect chromosomes 13, 18, 21, X and Y aneuploidies.
Results: In 9 (2.7%) samples only one aneuploidy was detected. The aneuploidies included trisomy 13 (N= 1, 0.3%), trisomy 18 (N= 1, 0.3%), trisomy 21 (N= 6, 1.8%), monosomy X (N= 1, 0.3%). Referral reasons for positive results showed abnormal 1st and 2nd trimester screening (2.1%), history of previous pregnancy with chromosomal anomalies (0.3%) and hypoplastic NB (0.3%). Since P-value was considered as <0.05, relation between QF-PCR results and referral reasons were significant.
Conclusion: In conclusion, prenatal diagnosis is crucial for management of a high risk pregnancy. QF-PCR is reliable, accurate, and robust, but it has a limitation of not to able to examine full genome. This method is the fastest diagnostic test for prenatal diagnosis especially in the context of a high risk pregnancy and so it provides less stressful period for pregnant women.