The clinical usefulness of non-invasive prenatal testing in pregnancies with abnormal ultrasound findings

Boo, Hyeyeon; Kim, So Yun; Seoung, Eui Sun; Kim, Min Hyung; Kim, Moon Young; Ryu, Hyun Mee; Han, You Jung; Chung, Jin Hoon

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자료유형: 학술저널

저자정보: Boo, Hyeyeon (Department of Obstetrics and Gynecology, Hanyang University Guri Hospital, Hanyang University College of Medicine) Kim, So Yun (Department of Obstetrics and Gynecology, Cheil General Hospital and Women's Healthcare Center, Dankook University College of Medicine) Seoung, Eui Sun (Department of Obstetrics and Gynecology, Cheil General Hospital and Women's Healthcare Center, Dankook University College of Medicine) Kim, Min Hyung (Department of Obstetrics and Gynecology, Cheil General Hospital and Women's Healthcare Center, Dankook University College of Medicine) Kim, Moon Young (Department of Obstetrics and Gynecology, Cheil General Hospital and Women's Healthcare Center, Dankook University College of Medicine) Ryu, Hyun Mee (Department of Obstetrics and Gynecology, Cheil General Hospital and Women's Healthcare Center, Dankook University College of Medicine) Han, You Jung (Department of Obstetrics and Gynecology, Cheil General Hospital and Women's Healthcare Center, Dankook University College of Medicine) Chung, Jin Hoon (Department of Obstetrics and Gynecology, Cheil General Hospital and)

저널정보: 대한의학유전학회 Journal of genetic medicine Journal of genetic medicine 제15권 제2호

발행연도: 2018.1

수록면: 79 - 86 (8page)

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Purpose: This study aimed to evaluate the clinical usefulness of non-invasive prenatal testing (NIPT) as an alternative testing of invasive diagnostic testing in pregnancies with ultrasound abnormalities. Materials and Methods: This was a retrospective study of pregnant women with abnormal ultrasound findings before 24 weeks of gestation between April 2016 and March 2017. Abnormal ultrasound findings included isolated increased nuchal translucency, structural anomalies, and soft markers. The NIPT or diagnostic test was conducted and NIPT detected trisomy 21 (T21), T18, T13 and sex chromosomal abnormalities. We analyzed the false positive and residual risks of NIPT based on the ultrasound findings. Results: During the study period, 824 pregnant women had abnormal ultrasound findings. Among the study population, 139 patients (16.9%) underwent NIPT. When NIPT was solely performed in the patients with abnormal ultrasound findings, overall false positive risk was 2.2% and this study found residual risks of NIPT. However, the discordant results of NIPT differed according to the type of abnormal ultrasound findings. Discordant results were significant in the group with structural anomalies with 4.4% false positive rate. However, no discordant results were found in the group with single soft markers. Conclusion: This study found different efficacy of NIPT according to the ultrasound findings. The results emphasize the importance of individualized counseling for prenatal screening or diagnostic test based on the type of abnormal ultrasound.

#Non-invasive prenatal test #Cell-free nucleic acids #Prenatal diagnosis #Ultrasonography #Congenital abnormalities

참고문헌 (24)

참고문헌 신청

Gil MM / 2015 / Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies:updated meta-analysis / Ultrasound Obstet Gynecol 45:249~266

Norton ME / 2015 / Cell-free DNA analysis for noninvasive examination of trisomy / N Eng J Med 372:1589~1597

Vora NL / 2017 / Utility of ultrasound examination at 10-14 weeks prior to cell-free DNA screening for fetal aneuploidy / Ultrasound Obstet Gynecol 49:465~469

Reiff ES / 2016 / What is the role of the 11- to 14-week ultrasound in women with negative cellfree DNA screening for aneuploidy / Prenat Diagn 36:260~265

Larion S / 2014 / Uptake of noninvasive prenatal testing at a large academic referral center / Am J Obstet Gynecol 211:651~651.e7

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Boo, Hyeyeon

소속기관 Department of Obstetrics and Gynecology, Hanyang University Guri Hospital, Hanyang University Colleg

주요연구분야 의약학 > 기타 의약학

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Kim, So Yun