Quantitative fluorescent PCR (QF-PCR) for prenatal diagnosis of fetal aneuploidy: Indian experience

Abstract

Introduction: Prenatal diagnosis of fetal chromosomal aneuploidies has traditionally relied on cytogenetics. In recent times QF-PCR, to detect the common aneuploidies has been reported. In view of the paucity of Indian experience regarding QF-PCR, we present prospective data from our centre. Materials and Methods: 572 AF samples were collected from Indian women with singleton pregnancy between 16-20 weeks gestation after counselling. The samples were collected over one year and followed up till delivery. AF was sent for QF-PCR for chromosomes 13, 18, 21 and 23. Results: There was no procedure related miscarriage, or IUFD. There were seventeen trisomy 21, two 47XXX and one 47XXY. All pregnancies with fetal aneuploidies underwent termination. All 552/572 women with normal report were followed up and none had IUFD or clinical features of trisomy 21 after term or preterm births. Discussion: The current study stresses the clinical importance of shorter TAT advantage and the slight cost advantage of QF-PCR over FISH. The current study shows QF-PCR is a satisfactory method for diagnosing chromosomal aneuploidy from amniotic fluid in screen positive population, has advantages and might be preferred more in near future in place of FISH, especially in the scenario of increasing awareness of biochemical screening for chromosomal aneuploidies in India. However, more such studies with increased numbers and in multiple pregnancies are required. The current study is ongoing and hopefully we will be able to present such data soon. Keywords: QF-PCR, Aneuploidy, Prenatal diagnosis, Segmental duplication.