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The clinical usefulness of non-invasive prenatal testing in pregnancies with abnormal ultrasound findings
J Genet Med 2018;15:79-86
Published online December 31, 2018;
© 2018 Korean Society of Medical Genetics and Genomics.

Hyeyeon Boo1, So Yun Kim2, Eui Sun Seoung2, Min Hyung Kim2, Moon Young Kim2, Hyun Mee Ryu2, You Jung Han2, and Jin Hoon Chung2,*

1Department of Obstetrics and Gynecology, Hanyang University Guri Hospital, Hanyang University College of Medicine, Guri, Korea
2Department of Obstetrics and Gynecology, Cheil General Hospital and Women’s Healthcare Center, Dankook University College of Medicine, Seoul, Korea
Jin Hoon Chung, M.D., Ph.D.
Department of Obstetrics and Gynecology, Cheil General Hospital and Women's Healthcare Center, Dankook University College of Medicine, 17 Seoae-ro 1-gil, Jung-gu, Seoul 04619, Korea.
Tel: +82-2-2000-7273, Fax: +82-2-2278-4574, E-mail:
Received November 21, 2018; Revised December 18, 2018; Accepted December 19, 2018.
cc This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License ( which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
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.
Keywords : Non-invasive prenatal test, Cell-free nucleic acids, Prenatal diagnosis, Ultrasonography, Congenital abnormalities

December 2018, 15 (2)
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