双胎妊娠中的无细胞 DNA 筛查

IF 2 Q2 OBSTETRICS & GYNECOLOGY Obstetrics and Gynecology Science Pub Date : 2024-03-01 Epub Date: 2024-01-25 DOI:10.5468/ogs.23135
Hye Yeon Boo, You Jung Han
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引用次数: 0

摘要

无细胞 DNA(cfDNA)筛查胎儿非畸形已应用于临床,其性能优于传统的血清筛查试验。然而,有关双胎妊娠中 cfDNA 筛查临床表现的数据还很有限。在这篇综述中,我们总结了双胎妊娠的临床表现,并根据最近的研究和建议评估了无创产前检测在双胎妊娠中的可行性。双胎妊娠中 cfDNA 筛查 21 三体综合征的表现与单胎妊娠相似。与传统的血清筛查相比,cfDNA 筛查的检出率更高,假阳性率更低。因此,最近一些学术团体的国际指南建议,可以考虑对双胎妊娠进行非整倍体的 cfDNA 筛查。此外,双胎妊娠可能会出现一些特殊情况,如不同胎次和消失的双胞胎;因此,需要进行个体化的咨询和管理。要进行更准确的分析,还需要对更多的双胎妊娠进行进一步的临床研究。
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Cell-free DNA screening in twin pregnancies.

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.

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来源期刊
Obstetrics and Gynecology Science
Obstetrics and Gynecology Science Medicine-Obstetrics and Gynecology
CiteScore
3.80
自引率
15.80%
发文量
58
审稿时长
16 weeks
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.
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