Clinical Practice Guidelines for Prenatal Aneuploidy Screening and Diagnostic Testing from Korean Society of Maternal-Fetal Medicine: (1) Prenatal Aneuploidy Screening.
Aneuploidy
Cell-free DNA Screening
Down Syndrome
Korea
Maternal Serum Screening
Practice Guideline
Prenatal Diagnosis
Journal
Journal of Korean medical science
ISSN: 1598-6357
Titre abrégé: J Korean Med Sci
Pays: Korea (South)
ID NLM: 8703518
Informations de publication
Date de publication:
25 Jan 2021
25 Jan 2021
Historique:
received:
10
09
2020
accepted:
11
11
2020
entrez:
26
1
2021
pubmed:
27
1
2021
medline:
7
10
2021
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 33496086
pii: 36.e27
doi: 10.3346/jkms.2021.36.e27
pmc: PMC7834900
doi:
Substances chimiques
Cell-Free Nucleic Acids
0
Types de publication
Journal Article
Practice Guideline
Langues
eng
Sous-ensembles de citation
IM
Pagination
e27Subventions
Organisme : Korea Health Industry Development Institute
ID : HC15C1336
Pays : Republic of Korea
Informations de copyright
© 2021 The Korean Academy of Medical Sciences.
Déclaration de conflit d'intérêts
The authors have no potential conflicts of interest to disclose.
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