European Journal of Molecular & Clinical Medicine

Abstract

Introduction: Chromosomal disorders are caused by changes occurring in either
chromosome number or structure usually during the formation of gametes or soon after
fertilisation. These changes can affect the autosomes, with chromosomal disorders
divided into the two corresponding groups.
Aims: To screen for chromosomal abnormalities namely trisomy 21, 18 & 13, during the
first trimester of pregnancy using biochemical tests like freeβ-hCG, PAPP-A and ultra
sound measurements of nuchal translucency, nasal bone and ductus venosus flow.
Materials and methods:The Prospective study on early detection of chromosomal
anomalies by performing a combination of biochemical and sonological tests between
11-14 wk of gestation. To the existing first trimester screening tests of double marker (
free β- hCG and PAPP-A) Combined with NT,two more sonological markers were
added is NB,DVF to improve the diagnostic sensitivity.
Results: Mean age at presentation was 28yrs.Prevalence of high risk after the combined
test is 7%, none of them had chromosomal anomalies. However low PAPP-A (<0.52
MoM) was significantly associated with increased preeclampsia, preterm delivery and
miscarriage.Absent NT can also be an independent marker for identifying high risk
cases.
Conclusion: The analysis of the individual & combination of various markers have
revealed interesting findings of maternal outcome, some of them having statistically
significant.