Acceptance and Utility of Combined Screening for Aneuploidies in First Trimester of General Population of North India
2020
Introduction: Nuchal translucency (NT) measurement is the most powerful marker for general population screening of Down’s syndrome, done by specially trained sonologist using standardized technique. With the advent of better ultrasound machines and expertise of doctor, assessment of fetal anatomy at 11 to 13+6 weeks scan has improved a lot. Combined screening by maternal age, NT, FHR, biochemical markers, allows calculation of risk for trisomies 21,18 and 13. It also allows early detection of fetal structural defects which cannot be detected by cell free fetal DNA.
Objective: To find out the acceptability of combined screening and to detect aneuploidies as well as early fetal structural defects so that first trimester MTP can be offered.
Materials & Methods: It was a prospective study from Feb.2016 to Aug. 2019. Only 531 antenatal women between 11 to 13+6 weeks gave consent to undergo NT scan and double marker test. All values of NT scan, double marker, maternal age, MAP and other parameters were entered in software issued by FMF U.K. and risk was calculated.
Results: 13 patients fell in high risk group out of which 9 patients underwent CVS and 1 showed T21. 4 patients refused for karyotyping and underwent level 2 USG out of which 1 showed multiple soft markers and amniocentesis showed T18.
Conclusion: Acceptability for combined screening was found to be 84.1%. If aneuploidies are detected earlier in first trimester, then patient can be offered first trimester MTP which saves family from challenges of bringing up.
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