Sonographic Prenatal Screening in Diagnosis of Neural Tube Defects During 1st and 2nd Trimesters of Pregnancy

Diagnosis of Neural Tube Defects


  • Aima Gilani Salford Royal NHS, Foundation trust, Salford, Manchester, United Kingdom
  • Muhammad Nawaz Anjum Radiology department, Faculty of Allied Health Science, University of Lahore, Lahore, Pakistan
  • Asif Hanif University Institute of Public Health, University of Lahore, Lahore, Pakistan
  • Zarnab Amin Radiology department, Combined Military Hospital, Lahore, Pakistan
  • Seemal Masood Radiology department, Faculty of Allied Health Science, University of Lahore, Lahore, Pakistan



Ultrasound, Neural-Tube Defects, Nuchal-Translucency, Color Doppler


Sonographic assessment offers several advantages in the diagnosis of Neural Tube Defects (NTDs). It is a safe and non-invasive procedure that poses minimal risks to both the mother and the fetus. During the 1st trimester, sonographic assessment includes measurement of nuchal translucency (NT), which, when increased, indicates a higher risk of NTDs and chromosomal abnormalities. In the 2nd trimester, a detailed anatomical scan evaluates the neural tube, brain, spine, and associated structures. Objective: To screen sonographically for the prenatal diagnosis of Neural Tube defects during 1st and 2nd trimesters of pregnancy. Methods: A prospective cohort study done in 9 months at Gilani Ultrasound Centre, Lahore, Pakistan by consecutive sampling. Total 7552 samples were estimated. We included all pregnant females visiting for regular antenatal checkup age between 18-45 years and Gestational age from week 6th till 26th weeks with any parity and excluded females needing emergency intervention. Results: Out of 7552 patients 319(4.24%) of fetuses were seen with minor abnormalities (Sonological Markers) in 319(4.28%) of patients examined of which 89(28.07%). Mild microcephaly was seen in 24(7.57%), of which 3 were seen in the 2nd trimester and 21 were seen in the 3rd trimester. Many other disorders were also observed in very low number of patients. Conclusion: Sonographic assessment is an essential tool in the prenatal screening and diagnosis of NTDs during the 1st and 2nd trimesters of pregnancy. Its widespread use and continuous improvement in technology have significantly contributed to the improved diagnosis and care of NTDs in prenatal settings.


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DOI: 10.54393/pjhs.v4i10.1082
Published: 2023-10-31

How to Cite

Gilani, A., Anjum, M. N., Hanif, A., Amin, Z., & Masood, S. (2023). Sonographic Prenatal Screening in Diagnosis of Neural Tube Defects During 1st and 2nd Trimesters of Pregnancy: Diagnosis of Neural Tube Defects. Pakistan Journal of Health Sciences, 4(10), 223–229.



Original Article