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Volume 13
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Article

Cell-Free Fetal DNA Screening Analysis in Korean Pregnant Women: Six Years of Experience and a Retrospective Study of 9327 Patients Analyzed from 2017 to 2022

by
Ji Eun Park
1,†,
Kyung Min Kang
1,†,
Hyunjin Kim
1,
Hee Yeon Jang
1,
Minyeon Go
1,
So Hyun Yang
1,
Daeun Jeong
2,
Hyeonmin Jeong
2,
Jong Chul Kim
1,
Seo Young Lim
2,
Dong Hyun Cha
1,3,* and
Sung Han Shim
1,2,*
1
Center for Genome Diagnostics, CHA Biotech Inc., Seoul 06125, Republic of Korea
2
Department of Biomedical Science, College of Life Science, CHA University, Seongnam 13488, Republic of Korea
3
Department of Obstetrics and Gynecology, CHA Gangnam Medical Center, CHA University, Seoul 06125, Republic of Korea
*
Authors to whom correspondence should be addressed.
†
These authors contributed equally to this work.
J. Pers. Med. 2023, 13(10), 1468; https://doi.org/10.3390/jpm13101468
Submission received: 4 September 2023 / Revised: 22 September 2023 / Accepted: 27 September 2023 / Published: 6 October 2023
(This article belongs to the Section Methodology, Drug and Device Discovery)
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Abstract

Cell-free DNA (cfDNA) screening for normal fetal aneuploidy has been widely adopted worldwide due to its convenience, non-invasiveness, and high positive predictive rate. We retrospectively evaluated 9327 Korean women with single pregnancies who underwent a non-invasive prenatal test (NIPT) to investigate how various factors such as maternal weight, age, and the method of conception affect the fetal fraction (FF). The average FF was 9.15 ± 3.31%, which decreased significantly as the maternal body mass index (BMI) increased (p < 0.001). The highly obese group showed a ‘no-call’ rate of 8.01%, which is higher than that of the normal weight group (0.33%). The FF was 8.74 ± 3.20% when mothers were in their 40s, and lower than that when in their 30s (9.23 ± 3.34, p < 0.001) and in the natural pregnancy group (9.31% ± 3.33). The FF of male fetuses was observed to be approximately 2.76% higher on average than that of female fetuses. As the gestational age increased, there was no significant increase in the fraction of fetuses up to 21 weeks compared to that at 10–12 weeks, and a significant increase was observed in the case of 21 weeks or more. The FFs in the NIPT high-risk result group compared to that in the low-risk group were not significantly different (p = 0.62). In conclusion, BMI was the factor most associated with the fetal fraction. Although the NIPT is a highly prevalent method in prenatal analysis, factors affecting the fetal fraction should be thoroughly analyzed to obtain more accurate results.
Keywords: cell-free DNA (cfDNA); non-invasive prenatal test (NIPT); body mass index (BMI); fetal fraction screening test cell-free DNA (cfDNA); non-invasive prenatal test (NIPT); body mass index (BMI); fetal fraction screening test

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MDPI and ACS Style

Park, J.E.; Kang, K.M.; Kim, H.; Jang, H.Y.; Go, M.; Yang, S.H.; Jeong, D.; Jeong, H.; Kim, J.C.; Lim, S.Y.; et al. Cell-Free Fetal DNA Screening Analysis in Korean Pregnant Women: Six Years of Experience and a Retrospective Study of 9327 Patients Analyzed from 2017 to 2022. J. Pers. Med. 2023, 13, 1468. https://doi.org/10.3390/jpm13101468

AMA Style

Park JE, Kang KM, Kim H, Jang HY, Go M, Yang SH, Jeong D, Jeong H, Kim JC, Lim SY, et al. Cell-Free Fetal DNA Screening Analysis in Korean Pregnant Women: Six Years of Experience and a Retrospective Study of 9327 Patients Analyzed from 2017 to 2022. Journal of Personalized Medicine. 2023; 13(10):1468. https://doi.org/10.3390/jpm13101468

Chicago/Turabian Style

Park, Ji Eun, Kyung Min Kang, Hyunjin Kim, Hee Yeon Jang, Minyeon Go, So Hyun Yang, Daeun Jeong, Hyeonmin Jeong, Jong Chul Kim, Seo Young Lim, and et al. 2023. "Cell-Free Fetal DNA Screening Analysis in Korean Pregnant Women: Six Years of Experience and a Retrospective Study of 9327 Patients Analyzed from 2017 to 2022" Journal of Personalized Medicine 13, no. 10: 1468. https://doi.org/10.3390/jpm13101468

APA Style

Park, J. E., Kang, K. M., Kim, H., Jang, H. Y., Go, M., Yang, S. H., Jeong, D., Jeong, H., Kim, J. C., Lim, S. Y., Cha, D. H., & Shim, S. H. (2023). Cell-Free Fetal DNA Screening Analysis in Korean Pregnant Women: Six Years of Experience and a Retrospective Study of 9327 Patients Analyzed from 2017 to 2022. Journal of Personalized Medicine, 13(10), 1468. https://doi.org/10.3390/jpm13101468

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