The effectiveness of non-invasive prenatal test technology and the prenatal screening algorithm based on various methods for determining foetal aneuploidy
Sadvakassova L. Kurmangali Z. Beloussov V. Rakisheva Z. Terzic M.
September 2023Galenos Publishing House
Journal of the Turkish German Gynecology Association
2023#24Issue 3152 - 158 pp.
Objective: The purpose was to evaluate the effectiveness of a non-invasive prenatal test (NIPT) using mass parallel sequencing (MPS) to detect trisomy 13, 18, 21 and fetal sex chromosome abnormalities in maternal blood samples by isolating freely circulating foetal extracellular DNA (eDNA), and to develop an algorithm for prenatal screening. Material and Methods: The research methods used included blood sampling from patients, isolation of eDNA, determination of DNA concentration and quality, library preparation for sequencing, MPS using an Illumina HiSeq2000, positive and negative control samples, monitoring, and analysis of results using the distributed algorithms platform based on calculations of z-value and the average absolute deviation. Pregnant women were divided into two groups based on gestational age at sampling, group 1; 9-14 weeks and group 2; 15-27 weeks. Results: A total of 377 pregnant women were included with a mean (range) age of 33 (23-44) years. The mean gestational age at the time of blood sampling in group 1 was 11 (9-14) weeks, and in group 2 was 21 (15-27) weeks. In the first group, three cases of trisomy 18 chromosomes were detected in patients aged 43 years old, and female children were subsequently born with Edwards syndrome. In the second group, one case of trisomy 21 was detected in a patient aged 36 years and the pregnancy was terminated at 25 weeks. Conclusion: The analysis of freely circulating foetal eDNA was a sensitive method for detecting chromosomal abnormalities. The study has a practical significance, since the NIPT for frequent aneuploidy considerably exceeds the effectiveness of traditional screening methods and allows identifying chromosomal disorders starting from the 9th week of the gestation period. (J Turk Ger Gynecol Assoc 2023; 24: 152-8)
Chromosomal abnormalities , Extracellular deoxyribonucleic acid , Mass parallel sequencing , Non-invasive prenatal test , Pregnancy
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Department of Obstetrics and Gynecology, Semey Medical University, Semey, Kazakhstan
Department of Internal Medicine, University Medical Center, Astana, Kazakhstan
Genetics Laboratory TreeGene, Almaty, Kazakhstan
School of Medicine, Nazarbayev University, Astana, Kazakhstan
Department of Womens Health, University Medical Center, Astana, Kazakhstan
Department of Obstetrics, Gynecology and Reproductive Sciences, School of Medicine, University of Pittsburgh, Pittsburgh, United States
Department of Obstetrics and Gynecology
Department of Internal Medicine
Genetics Laboratory TreeGene
School of Medicine
Department of Womens Health
Department of Obstetrics
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