The effectiveness of non-invasive prenatal test technology and the prenatal screening algorithm based on various methods for determining foetal aneuploidy.
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 d...
| Publicado en: | Journal of the Turkish-German Gynecological Association Vol. 24; no. 3; pp. 152 - 159 |
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| Autores principales: | , , , , |
| Formato: | clinical trial research Journal Article |
| Publicado: |
Galenos Yayinevi Tic. LTD. STI
Sep2023
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=171904484&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 171904484 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 13090399 4U8C jtl: Journal of the Turkish-German Gynecological Association issn: 13090399 maglogo: N pubinfo: dt: Sep2023 vid: 24 iid: 3 pid: 28155 pub: Galenos Yayinevi Tic. LTD. STI artinfo: ui: 171904484 171904484 171904484 10.4274/jtgga.galenos.2023.2022-10-4 171904484 ppf: 152 ppct: 7 formats: tig: atl: The effectiveness of non-invasive prenatal test technology and the prenatal screening algorithm based on various methods for determining foetal aneuploidy. aug: au: Sadvakassova, Leila Kurmangali, Zhanar Beloussov, Vyacheslav Rakisheva, Zere Terzic, Milan affil: Department of Obstetrics and Gynecology, Semey Medical University, Semey, Kazakhstan sug: subj: Noninvasive Prenatal Testing Genetic Screening Algorithms Prenatal Diagnosis Methods Chromosome Disorders Diagnosis Aneuploidy Diagnosis Prenatal Care Human Female Pregnancy Adult Fetus DNA Analysis Sequence Analysis Trisomy 18 Diagnosis Down Syndrome Diagnosis Clinical Trials Adult: 19-44 years Fetus, conception to birth Female ab: 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. pubtype: Academic Journal doctype: clinical trial research Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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