J Korean Med Sci.  2021 Jan;36(4):e27. 10.3346/jkms.2021.36.e27.

Clinical Practice Guidelines for Prenatal Aneuploidy Screening and Diagnostic Testing from Korean Society of Maternal-Fetal Medicine:(1) Prenatal Aneuploidy Screening

  • 1Department of Preventive Medicine, Korea University College of Medicine, Seoul, Korea
  • 2Department of Obstetrics and Gynecology, Kyung Hee University Hospital at Gangdong, Kyung Hee University College of Medicine, Seoul, Korea
  • 3Department of Obstetrics and Gynecology, College of Medicine,The Catholic University of Korea, Seoul, Korea
  • 4Department of Obstetrics and Gynecology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea
  • 5Department of Obstetrics and Gynecology, MizMedi Hospital, Seoul, Korea
  • 6Department of Obstetrics and Gynecology, CHA Bundang Medical Center, CHA University School of Medicine, Seongnam, Korea
  • 7Department of Obstetrics and Gynecology, Gangnam Severance Hospital, Institute of Women's Life Medical Science, Yonsei University College of Medicine, Seoul, Korea
  • 8Department of Obstetrics and Gynecology, Research Institute of Medical Science, Konkuk University Medical Center, Konkuk University School of Medicine, Seoul, Korea
  • 9Department of Obstetrics and Gynecology, Kangwon National University Hospital, School of Medicine Kangwon National University, Chuncheon, Korea
  • 10Mirae & Heemang Obstetrics and Gynecology Clinic, Seoul, Korea
  • 11Dr Kim's OB-GYN Clinic, Daegu, Korea


In 2019, the Korean Society of Maternal-Fetal Medicine developed the first Korean clinical practice guidelines for prenatal aneuploidy screening and diagnostic testing. These guidelines were developed by adapting established clinical practice guidelines in other countries that were searched systematically, and the guidelines aim to assist in decision making of healthcare providers providing prenatal care and to be used as a source for education and communication with pregnant women in Korea. This article delineates clinical practice guidelines specifically for maternal serum screening for fetal aneuploidy and cell-free DNA (cfDNA) screening. A total of 19 key questions (12 for maternal serum and 7 for cfDNA screening) were defined. The main recommendations are: 1) Pregnant women should be informed of common fetal aneuploidy that can be detected, risks for chromosomal abnormality according to the maternal age, detection rate and false positive rate for common fetal aneuploidy with each screening test, limitations, as well as the benefits and risks of invasive diagnostic testing, 2) It is ideal to give counseling about prenatal aneuploidy screening and diagnostic testing at the first prenatal visit, and counseling is recommended to be given early in pregnancy, 3) All pregnant women should be informed about maternal serum screening regardless of their age, 4) cfDNA screening can be used for the screening of trisomy 21, 18, 13 and sex-chromosome aneuploidy. It is not recommended for the screening of microdeletion, 5) The optimal timing of cfDNA screening is 10 weeks of gestation and beyond, and 6) cfDNA screening is not recommended for women with multiple gestations. The guideline was reviewed and approved by the Korean Academy of Medical Sciences.


Aneuploidy; Down Syndrome; Korea; Maternal Serum Screening; Cell-free DNA Screening; Practice Guideline; Prenatal Diagnosis
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