EVALUATION OF SIGNIFICANCE OF ABSENT NASAL BONE AS ISOLATED RISK FACTOR FOR CHROMOSOMAL ANOMALIES
Journal Title: IOSR Journal of Dental and Medical Sciences (IOSR-JDMS) - Year 2017, Vol 16, Issue 2
Abstract
Background: In India, there is an accelerating demographic switch to non-communicable diseases among which congenital malformations and genetic disorders are important causes of morbidity and mortality. Due to the high birth rate in India , large number of infants with genetic disorders are born every year almost half a million with malformations and 21,000 with Down syndrome and pose a big financial and social burden to nation and family. Hence identifying down syndrome in antenatal ultrasound and karyotyping will help to reduce the incidence of down syndrome and thereby reducing the social and economical constraints.In this study we are testing the importance of isolated absent nasal bone in the diagnosis of trisomies as this was easy to demonstrate by antenatal ultrasound at 11- 14 weeks gestation.Comparing the results with nuchal fold thickness and karyotyping with either amniocentesis or chorionic villous sampling . Methods: The study was conducted in on pregnant mothers who come for NT scan between 11-to 13.6 weeks for our study . Mothers with hypoplastic nasal bone and/or absent nasal bone were further followed with serum markers and later confirmed with karyotyping. Mothers with normal NT scan and nasal bone were further evaluated mainly with serum markers and few with karyotyping who gave consent for it . Out of 15 cases , 11 cases showed abnormality as follows with 7 cases of both absent nasal bone and increased translucency,2 cases of isolated nuchal tranlucency and 2 case of isolated absent nasal bone. Out of 15 abnormal cases , 10 patients showed abnormal quadraple test. 7 cases of increased nuchal translucency and absent nasal bone , 2 cases of increased nuchal translucency and 1 case of isolated nasal bone showed high risk for trisomies in quadruple test. Conclusion: Isolated ultrasound finding of absent nasal bone has got insignificant chances of down syndrome and trisomies
Authors and Affiliations
Dr. M. Ramesh MDRD
Keywords
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- EP ID EP592264
- DOI 10.9790/0853-1610015360.
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