The relationship between clinical-anamnestic data and cell-free fetal DNA level assessed by semiconductor sequencing within non-invasive prenatal testing
Introduction. Currently, non-invasive prenatal testing (NIPT) is widely used to assess a risk of fetal chromosomal anomalies. NIPТ accuracy depends on the cell-free fetal DNA (cffDNA) percentage relative to total cell-free DNA in the pregnant woman's blood (cfDNA fetal fraction, FF). Despite nu...
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IRBIS LLC
2025-01-01
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| Series: | Акушерство, гинекология и репродукция |
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| Online Access: | https://www.gynecology.su/jour/article/view/2287 |
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| author | E. S. Vashukova O. A. Tarasenko A. R. Maltseva A. K. Popova O. V. Pachuliia O. N. Bespalova A. S. Glotov |
| author_facet | E. S. Vashukova O. A. Tarasenko A. R. Maltseva A. K. Popova O. V. Pachuliia O. N. Bespalova A. S. Glotov |
| author_sort | E. S. Vashukova |
| collection | DOAJ |
| description | Introduction. Currently, non-invasive prenatal testing (NIPT) is widely used to assess a risk of fetal chromosomal anomalies. NIPТ accuracy depends on the cell-free fetal DNA (cffDNA) percentage relative to total cell-free DNA in the pregnant woman's blood (cfDNA fetal fraction, FF). Despite numerous studies, no consensus regarding FF-affecting factors has been reached yet.Aim: to investigate a relationship between FF and clinical-anamnestic parameters of pregnant women, pregnancy characteristics, and outcomes using the developed NIPТ technology.Materials and Methods. A prospective observational study was performed by assessing plasma samples from 5459 women with > 9 week-long singleton pregnancies. NIPТ was performed using semiconductor sequencing followed by bioinformatics data processing, including FF determination, according to a previously developed original algorithm.Results. Median FF was 11.7 [9.5–14.0] %. It was demonstrated that FF depends on blood collection tube type (p < 0.05). FF was found to decrease with woman age and body mass index, and increase with gestational age, elevated early prenatal screening (EPS) biochemical markers – pregnancy-associated plasma protein-A (РАРР-А) and free beta-subunit of human chorionic gonadotropin (β-hCG) levels (p < 0.05). It has been shown that the FF in pregnant women with trisomy 18 is lower than normal (p < 0.05). An increase in FF was observed in pregnant women with fetal congenital anomalies according to ultrasound results (p < 0.05). No association was found between FF and the conception type, first-trimester ultrasound parameters (nuchal translucency, crown-rump length, ultrasound chromosome anomalies markers), fetal trisomy 13 and 21, fetal sex chromosome anomalies, or pregnancy complications – preeclampsia, gestational diabetes, preterm birth, and fetal growth restriction (p > 0.05).Conclusion. The identified patterns are important to take into consideration while using and interpreting NIPТ. |
| format | Article |
| id | doaj-art-e53dc3aac76646beb891417c586990d2 |
| institution | Kabale University |
| issn | 2313-7347 2500-3194 |
| language | Russian |
| publishDate | 2025-01-01 |
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| series | Акушерство, гинекология и репродукция |
| spelling | doaj-art-e53dc3aac76646beb891417c586990d22025-08-20T03:57:39ZrusIRBIS LLCАкушерство, гинекология и репродукция2313-73472500-31942025-01-0118682083410.17749/2313-7347/ob.gyn.rep.2024.546936The relationship between clinical-anamnestic data and cell-free fetal DNA level assessed by semiconductor sequencing within non-invasive prenatal testingE. S. Vashukova0O. A. Tarasenko1A. R. Maltseva2A. K. Popova3O. V. Pachuliia4O. N. Bespalova5A. S. Glotov6Ott Research Institute of Obstetrics, Gynecology and ReproductologyOtt Research Institute of Obstetrics, Gynecology and ReproductologyOtt Research Institute of Obstetrics, Gynecology and ReproductologyOtt Research Institute of Obstetrics, Gynecology and ReproductologyOtt Research Institute of Obstetrics, Gynecology and ReproductologyOtt Research Institute of Obstetrics, Gynecology and ReproductologyOtt Research Institute of Obstetrics, Gynecology and ReproductologyIntroduction. Currently, non-invasive prenatal testing (NIPT) is widely used to assess a risk of fetal chromosomal anomalies. NIPТ accuracy depends on the cell-free fetal DNA (cffDNA) percentage relative to total cell-free DNA in the pregnant woman's blood (cfDNA fetal fraction, FF). Despite numerous studies, no consensus regarding FF-affecting factors has been reached yet.Aim: to investigate a relationship between FF and clinical-anamnestic parameters of pregnant women, pregnancy characteristics, and outcomes using the developed NIPТ technology.Materials and Methods. A prospective observational study was performed by assessing plasma samples from 5459 women with > 9 week-long singleton pregnancies. NIPТ was performed using semiconductor sequencing followed by bioinformatics data processing, including FF determination, according to a previously developed original algorithm.Results. Median FF was 11.7 [9.5–14.0] %. It was demonstrated that FF depends on blood collection tube type (p < 0.05). FF was found to decrease with woman age and body mass index, and increase with gestational age, elevated early prenatal screening (EPS) biochemical markers – pregnancy-associated plasma protein-A (РАРР-А) and free beta-subunit of human chorionic gonadotropin (β-hCG) levels (p < 0.05). It has been shown that the FF in pregnant women with trisomy 18 is lower than normal (p < 0.05). An increase in FF was observed in pregnant women with fetal congenital anomalies according to ultrasound results (p < 0.05). No association was found between FF and the conception type, first-trimester ultrasound parameters (nuchal translucency, crown-rump length, ultrasound chromosome anomalies markers), fetal trisomy 13 and 21, fetal sex chromosome anomalies, or pregnancy complications – preeclampsia, gestational diabetes, preterm birth, and fetal growth restriction (p > 0.05).Conclusion. The identified patterns are important to take into consideration while using and interpreting NIPТ.https://www.gynecology.su/jour/article/view/2287non-invasive prenatal testingnipтcell-free fetal dnacfdnafetal fractionffpregnancy |
| spellingShingle | E. S. Vashukova O. A. Tarasenko A. R. Maltseva A. K. Popova O. V. Pachuliia O. N. Bespalova A. S. Glotov The relationship between clinical-anamnestic data and cell-free fetal DNA level assessed by semiconductor sequencing within non-invasive prenatal testing Акушерство, гинекология и репродукция non-invasive prenatal testing nipт cell-free fetal dna cfdna fetal fraction ff pregnancy |
| title | The relationship between clinical-anamnestic data and cell-free fetal DNA level assessed by semiconductor sequencing within non-invasive prenatal testing |
| title_full | The relationship between clinical-anamnestic data and cell-free fetal DNA level assessed by semiconductor sequencing within non-invasive prenatal testing |
| title_fullStr | The relationship between clinical-anamnestic data and cell-free fetal DNA level assessed by semiconductor sequencing within non-invasive prenatal testing |
| title_full_unstemmed | The relationship between clinical-anamnestic data and cell-free fetal DNA level assessed by semiconductor sequencing within non-invasive prenatal testing |
| title_short | The relationship between clinical-anamnestic data and cell-free fetal DNA level assessed by semiconductor sequencing within non-invasive prenatal testing |
| title_sort | relationship between clinical anamnestic data and cell free fetal dna level assessed by semiconductor sequencing within non invasive prenatal testing |
| topic | non-invasive prenatal testing nipт cell-free fetal dna cfdna fetal fraction ff pregnancy |
| url | https://www.gynecology.su/jour/article/view/2287 |
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