Factors affecting low fetal fraction in fetal screening with cell-free DNA in pregnant women: a systematic review and meta-analysis
Abstract Background Cell-Free DNA (cfDNA) is a non-invasive perinatal test (NIPT) used to assess fetal anomalies. The ability to detect fetal chromosomal aneuploidies is directly related to a sample’s fetal to total DNA fraction, known as the fetal fraction (FF). The minimum FF is considered 4%, and...
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2022-12-01
|
| Series: | BMC Pregnancy and Childbirth |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12884-022-05224-7 |
| _version_ | 1811188717680852992 |
|---|---|
| author | Sanaz Mousavi Ziba Shokri Parvin Bastani Morteza Ghojazadeh Sevda Riahifar Hooman Nateghian |
| author_facet | Sanaz Mousavi Ziba Shokri Parvin Bastani Morteza Ghojazadeh Sevda Riahifar Hooman Nateghian |
| author_sort | Sanaz Mousavi |
| collection | DOAJ |
| description | Abstract Background Cell-Free DNA (cfDNA) is a non-invasive perinatal test (NIPT) used to assess fetal anomalies. The ability to detect fetal chromosomal aneuploidies is directly related to a sample’s fetal to total DNA fraction, known as the fetal fraction (FF). The minimum FF is considered 4%, and the test result below 4% is uncertain due to low fetal fraction (LFF). This study aimed to conduct a systematic review and a meta-analysis to determine the possible factors affecting LFF in cfDNA testing for fetal screening. Methods PubMed, Web of Science, Google Scholar, Since Direct, Scopus, CINHAL, Cochrane Library, and Persian databases, including Scientific Information Database, Irandoc, and Magiran were searched for studies investigating factors affecting LFF in cfDNA testing from 2000 until the end of 2021. Gathered data were analyzed using Comprehensive Meta-Analysis (CMA) software version 3.3.070. The quality of the included studies was assessed using the Joanna Briggs Institute Critical Appraisal of Cohort Studies tool. Results Thirteen articles related to the topic were included, and seven related articles were reviewed for meta-analysis. The other six were reviewed qualitatively. Four factors were identified that might have a potential effect on the LFF, of which only gestational age had a significant association with LFF (Pooled mean difference= -1.111, SE = 0.515, 95% CI= -2.121, -0.101, (P-value < 0.05)). Maternal age (P-value = 0.573), maternal weight (P-value = 0.113), and Body Mass Index (P-value = 0.104) had no statically significant effect. The effect size was pooled by mean difference and 95% confidence interval. Conclusion Lower gestational age is significantly associated with LFF. Thus, this factor can be considered when interpreting prenatal cfDNA screening tests. |
| first_indexed | 2024-04-11T14:23:16Z |
| format | Article |
| id | doaj.art-544bc0571a6c4c8a9d9054605eca2f40 |
| institution | Directory Open Access Journal |
| issn | 1471-2393 |
| language | English |
| last_indexed | 2024-04-11T14:23:16Z |
| publishDate | 2022-12-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Pregnancy and Childbirth |
| spelling | doaj.art-544bc0571a6c4c8a9d9054605eca2f402022-12-22T04:18:57ZengBMCBMC Pregnancy and Childbirth1471-23932022-12-0122111110.1186/s12884-022-05224-7Factors affecting low fetal fraction in fetal screening with cell-free DNA in pregnant women: a systematic review and meta-analysisSanaz Mousavi0Ziba Shokri1Parvin Bastani2Morteza Ghojazadeh3Sevda Riahifar4Hooman Nateghian5Department of Gynecology and Obstetrics, Al-Zahra Hospital, Faculty of Medicine, Tabriz University of Medical SciencesDepartment of Gynecology and Obstetrics, Al-Zahra Hospital, Faculty of Medicine, Tabriz University of Medical SciencesDepartment of Gynecology and Obstetrics, Al-Zahra Hospital, Faculty of Medicine, Tabriz University of Medical SciencesResearch Center for Evidence‑Based Medicine, Iranian EBM Centre: A Joanna Briggs Institute Affiliated Group, Tabriz University of Medical SciencesDepartment of Biostatistics, Faculty of Public Health, Iran University of Medical SciencesResearch Center for Evidence‑Based Medicine, Iranian EBM Centre: A Joanna Briggs Institute Affiliated Group, Tabriz University of Medical SciencesAbstract Background Cell-Free DNA (cfDNA) is a non-invasive perinatal test (NIPT) used to assess fetal anomalies. The ability to detect fetal chromosomal aneuploidies is directly related to a sample’s fetal to total DNA fraction, known as the fetal fraction (FF). The minimum FF is considered 4%, and the test result below 4% is uncertain due to low fetal fraction (LFF). This study aimed to conduct a systematic review and a meta-analysis to determine the possible factors affecting LFF in cfDNA testing for fetal screening. Methods PubMed, Web of Science, Google Scholar, Since Direct, Scopus, CINHAL, Cochrane Library, and Persian databases, including Scientific Information Database, Irandoc, and Magiran were searched for studies investigating factors affecting LFF in cfDNA testing from 2000 until the end of 2021. Gathered data were analyzed using Comprehensive Meta-Analysis (CMA) software version 3.3.070. The quality of the included studies was assessed using the Joanna Briggs Institute Critical Appraisal of Cohort Studies tool. Results Thirteen articles related to the topic were included, and seven related articles were reviewed for meta-analysis. The other six were reviewed qualitatively. Four factors were identified that might have a potential effect on the LFF, of which only gestational age had a significant association with LFF (Pooled mean difference= -1.111, SE = 0.515, 95% CI= -2.121, -0.101, (P-value < 0.05)). Maternal age (P-value = 0.573), maternal weight (P-value = 0.113), and Body Mass Index (P-value = 0.104) had no statically significant effect. The effect size was pooled by mean difference and 95% confidence interval. Conclusion Lower gestational age is significantly associated with LFF. Thus, this factor can be considered when interpreting prenatal cfDNA screening tests.https://doi.org/10.1186/s12884-022-05224-7Low fetal fractionCell-free DNAFetal soft markerFetal screening |
| spellingShingle | Sanaz Mousavi Ziba Shokri Parvin Bastani Morteza Ghojazadeh Sevda Riahifar Hooman Nateghian Factors affecting low fetal fraction in fetal screening with cell-free DNA in pregnant women: a systematic review and meta-analysis BMC Pregnancy and Childbirth Low fetal fraction Cell-free DNA Fetal soft marker Fetal screening |
| title | Factors affecting low fetal fraction in fetal screening with cell-free DNA in pregnant women: a systematic review and meta-analysis |
| title_full | Factors affecting low fetal fraction in fetal screening with cell-free DNA in pregnant women: a systematic review and meta-analysis |
| title_fullStr | Factors affecting low fetal fraction in fetal screening with cell-free DNA in pregnant women: a systematic review and meta-analysis |
| title_full_unstemmed | Factors affecting low fetal fraction in fetal screening with cell-free DNA in pregnant women: a systematic review and meta-analysis |
| title_short | Factors affecting low fetal fraction in fetal screening with cell-free DNA in pregnant women: a systematic review and meta-analysis |
| title_sort | factors affecting low fetal fraction in fetal screening with cell free dna in pregnant women a systematic review and meta analysis |
| topic | Low fetal fraction Cell-free DNA Fetal soft marker Fetal screening |
| url | https://doi.org/10.1186/s12884-022-05224-7 |
| work_keys_str_mv | AT sanazmousavi factorsaffectinglowfetalfractioninfetalscreeningwithcellfreednainpregnantwomenasystematicreviewandmetaanalysis AT zibashokri factorsaffectinglowfetalfractioninfetalscreeningwithcellfreednainpregnantwomenasystematicreviewandmetaanalysis AT parvinbastani factorsaffectinglowfetalfractioninfetalscreeningwithcellfreednainpregnantwomenasystematicreviewandmetaanalysis AT mortezaghojazadeh factorsaffectinglowfetalfractioninfetalscreeningwithcellfreednainpregnantwomenasystematicreviewandmetaanalysis AT sevdariahifar factorsaffectinglowfetalfractioninfetalscreeningwithcellfreednainpregnantwomenasystematicreviewandmetaanalysis AT hoomannateghian factorsaffectinglowfetalfractioninfetalscreeningwithcellfreednainpregnantwomenasystematicreviewandmetaanalysis |