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The clinical usefulness of cell-free DNA screening in pregnancies with a nuchal translucency between 95th and 99th percentile
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  • hyunmi Lee,
  • You Jung Han,
  • Hyun-Mee Ryu,
  • Soo Hyun Kim,
  • Moon Young Kim,
  • Hye Yeon Boo,
  • Hee Young Cho,
  • Mi-Young Lee,
  • JinHoon Chung,
  • Seung Mi Lee,
  • Soo-young Oh,
  • Joon Ho Lee,
  • Geum Joon Cho,
  • Han-Sung Kwon,
  • Byoung Jae Kim,
  • Mi Hye Park,
  • Hyun-Sun Ko
hyunmi Lee
CHA Ilsan Medical center
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You Jung Han
CHA Gangnam Medical Center
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Hyun-Mee Ryu
CHA Bundang Medical Center
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Soo Hyun Kim
CHA Gangnam Medical Center
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Moon Young Kim
CHA Gangnam Medical Center
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Hye Yeon Boo
CHA Ilsan Medical center
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Hee Young Cho
CHA Bundang Medical Center
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Mi-Young Lee
Asan Medical Center
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JinHoon Chung
Asan Medical Center
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Seung Mi Lee
Seoul National University College of Medicine
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Soo-young Oh
Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul
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Joon Ho Lee
Yonsei University College of Medicine Department of Gynecology and Obstetrics
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Geum Joon Cho
Korea University College of Medicine
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Han-Sung Kwon
Konkuk University School of Medicine
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Byoung Jae Kim
Seoul National University Seoul Metropolitan Government Boramae Medical Center
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Mi Hye Park
Ewha Womans University
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Hyun-Sun Ko
Catholic University of Korea College of Medicine
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Abstract

Objective: Evaluate the clinical usefulness of cell-free DNA screening (cfDNA screening) in pregnancies with nuchal translucency (NT) between 95th and 99th percentile. Design: Subgroup analysis of a multicenter prospective cohort study Setting: 12 different secondary and tertiary health care institutions in Korea Sample: 7,547 singleton pregnant women with NT between 95th and 99th percentile Methods: All participants were provided with information about aneuploidy screening or diagnostic testing and selected the first tier test after NT assessment. The first tier test included maternal serum screening tests (MSS), cfDNA screening and invasive test (IT). Main outcome measures: First-tier test preference and chromosomal abnormalities in pregnancies with NT between 95th and 99th percentile Results: A total of 7,547 singleton pregnant women were enrolled and 6,717 cases with known pregnancy outcomes were analyzed. Among these, 89 (1.3%) cases showed NT between 95th and 99th percentile. As the first-tier test, 47 (52.8%) cases chose cfDNA screening, 33 (37.1%) cases selected IT, and nine (10.1%) cases underwent MSS. Chromosomal abnormalities were found in five cases (5.6%), including four cases with trisomy 21 (T21) and one with a balanced translocation. No significant chromosomal abnormalities undetected by cfDNA screening were noted in pregnancies with NT between 95th and 99th percentile. Conclusion: cfDNA screening in pregnancies with NT between 95th and 99th percentile may be considered as an acceptable alternative to invasive test for women intending to avoid the risk of miscarriage.