Quantitative fluorescent PCR (QF-PCR) for prenatal diagnosis of fetal aneuploidy: Indian experience
Journal Title: Indian Journal of Obstetrics and Gynecology Research - Year 2018, Vol 5, Issue 3
Abstract
Introduction Prenatal diagnosis of fetal chromosomal aneuploidies has traditionally relied on cytogenetics In recent times QFPCR to detect the common aneuploidies has been reported In view of the paucity of Indian experience regarding QFPCR we present prospective data from our centreMaterials and Methods 572 AF samples were collected from Indian women with singleton pregnancy between 1620 weeks gestation after counselling The samples were collected over one year and followed up till delivery AF was sent for QFPCR for chromosomes 13 18 21 and 23Results 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 552572 women with normal report were followed up and none had IUFD or clinical features of trisomy 21 after term or preterm birthsDiscussion The current study stresses the clinical importance of shorter TAT advantage and the slight cost advantage of QFPCR over FISH The current study shows QFPCR 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 soonKeywords QFPCR Aneuploidy Prenatal diagnosis Segmental duplication
Authors and Affiliations
Kusagradhi Ghosh, Giridharan Appaswamy, Tippabathani Jayakrishna
Keywords
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- EP ID EP475151
- DOI 10.18231/2394-2754.2018.0096
- Views 84
- Downloads 0
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