{"title":"双胎妊娠中的无细胞 DNA 筛查","authors":"Hye Yeon Boo, You Jung Han","doi":"10.5468/ogs.23135","DOIUrl":null,"url":null,"abstract":"<p><p>Cell-free DNA (cfDNA) screening for fetal aneuploidies is clinically available and exhibits better performance than conventional serum screening tests. However, data on the clinical performance of cfDNA screening in twin pregnancies are limited. In this review, we summarized the clinical performance and evaluated the feasibility of cfDNA screening in twin pregnancies based on recent studies and recommendations. The performance of cfDNA screening for trisomy 21 in twin pregnancies is similar to that in singleton pregnancies. Specifically, cfDNA screening has a higher detection rate and lower false-positive rate compared with conventional serum screening. Consequently, recent international guidelines from several academic communities have recommended that cfDNA screening for aneuploidy in twin pregnancies could be considered. Moreover, twin pregnancies can present with specific conditions, such as different zygosities and vanishing twins; therefore, individualized counseling and management are required. Further clinical studies with more twin pregnancies are required for a more accurate analysis.</p>","PeriodicalId":37602,"journal":{"name":"Obstetrics and Gynecology Science","volume":" ","pages":"160-168"},"PeriodicalIF":2.0000,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10948209/pdf/","citationCount":"0","resultStr":"{\"title\":\"Cell-free DNA screening in twin pregnancies.\",\"authors\":\"Hye Yeon Boo, You Jung Han\",\"doi\":\"10.5468/ogs.23135\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Cell-free DNA (cfDNA) screening for fetal aneuploidies is clinically available and exhibits better performance than conventional serum screening tests. However, data on the clinical performance of cfDNA screening in twin pregnancies are limited. In this review, we summarized the clinical performance and evaluated the feasibility of cfDNA screening in twin pregnancies based on recent studies and recommendations. The performance of cfDNA screening for trisomy 21 in twin pregnancies is similar to that in singleton pregnancies. Specifically, cfDNA screening has a higher detection rate and lower false-positive rate compared with conventional serum screening. Consequently, recent international guidelines from several academic communities have recommended that cfDNA screening for aneuploidy in twin pregnancies could be considered. Moreover, twin pregnancies can present with specific conditions, such as different zygosities and vanishing twins; therefore, individualized counseling and management are required. Further clinical studies with more twin pregnancies are required for a more accurate analysis.</p>\",\"PeriodicalId\":37602,\"journal\":{\"name\":\"Obstetrics and Gynecology Science\",\"volume\":\" \",\"pages\":\"160-168\"},\"PeriodicalIF\":2.0000,\"publicationDate\":\"2024-03-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10948209/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Obstetrics and Gynecology Science\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.5468/ogs.23135\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/1/25 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q2\",\"JCRName\":\"OBSTETRICS & GYNECOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Obstetrics and Gynecology Science","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.5468/ogs.23135","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/1/25 0:00:00","PubModel":"Epub","JCR":"Q2","JCRName":"OBSTETRICS & GYNECOLOGY","Score":null,"Total":0}
Cell-free DNA (cfDNA) screening for fetal aneuploidies is clinically available and exhibits better performance than conventional serum screening tests. However, data on the clinical performance of cfDNA screening in twin pregnancies are limited. In this review, we summarized the clinical performance and evaluated the feasibility of cfDNA screening in twin pregnancies based on recent studies and recommendations. The performance of cfDNA screening for trisomy 21 in twin pregnancies is similar to that in singleton pregnancies. Specifically, cfDNA screening has a higher detection rate and lower false-positive rate compared with conventional serum screening. Consequently, recent international guidelines from several academic communities have recommended that cfDNA screening for aneuploidy in twin pregnancies could be considered. Moreover, twin pregnancies can present with specific conditions, such as different zygosities and vanishing twins; therefore, individualized counseling and management are required. Further clinical studies with more twin pregnancies are required for a more accurate analysis.
期刊介绍:
Obstetrics & Gynecology Science (NLM title: Obstet Gynecol Sci) is an international peer-review journal that published basic, translational, clinical research, and clinical practice guideline to promote women’s health and prevent obstetric and gynecologic disorders. The journal has an international editorial board and is published in English on the 15th day of every other month. Submitted manuscripts should not contain previously published material and should not be under consideration for publication elsewhere. The journal has been publishing articles since 1958. The aim of the journal is to publish original articles, reviews, case reports, short communications, letters to the editor, and video articles that have the potential to change the practices in women''s health care. The journal’s main focus is the diagnosis, treatment, prediction, and prevention of obstetric and gynecologic disorders. Because the life expectancy of Korean and Asian women is increasing, the journal''s editors are particularly interested in the health of elderly women in these population groups. The journal also publishes articles about reproductive biology, stem cell research, and artificial intelligence research for women; additionally, it provides insights into the physiology and mechanisms of obstetric and gynecologic diseases.