Prenatal Screening Of Foetal Chromosomal Disorders Using Maternal Serum Biochemical Markers And Karyotyping Among Indian Population
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Abstract
Background: Prenatal screening for aneuploidy during the first and second trimesters is a part of obstetric care. Because invasive procedures carry a high risk of miscarriage, these screening tests in high-risk pregnancies for aneuploidies are essential for determining the abnormality. The present study aimed to determine the predictive accuracy of prenatal screening tests and USG soft markers concerning maternal age groups, the incidence of chromosomal abnormalities, and the trends of screening tests chosen by obstetricians for women undergoing prenatal chromosome analysis prenatal screening.
Methods: 2280 Pregnant women were referred for prenatal screening tests in 2019–2020 by a well-established medical diagnostic laboratory, Lifecell International Private Limited.The sample has been analyzed based on the maternal age, screening tests, clinical indicators, karyotype interpretation, and type of chromosomal abnormalities. All the data were examined with the aid of SPSS 16.0 and EXCEL.
Results: 46.40% of women used TMT, 7.28% used DMT, and 3.82% used a combined first-trimester test in the present study. Positive predictive accuracy of the first trimester combined test is the highest (33.33%). Among 2280 women screened positive for aneuploidy based on different prenatal screening procedures, only 149 (6.5%) were found to have an abnormal karyotype, and the remaining 2131(93.5%) had a normal karyotype. USG marker in the absence of biochemical markers can detect considerable aneuploidy risk during the first and second trimesters.
Conclusion: The present study shows that in India second trimester prenatal tests are preferred over first-trimester prenatal tests by obstetricians. It shows that biochemical risk estimated in the first and second trimesters does not turn into a high likelihood of chromosomal abnormality in the general population. However, these tests can help informed decision-making in high-risk pregnancies based on maternal age and unfavourable obstetric history. Further confirmation through advanced methods like Chromosomal Microarray (CMA), Whole Genome Sequencing (WGS) is warranted for better diagnostic decisions.
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