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Ellis C. Becking Ewoud Schuit Sophie M. E. van Baar de Knegt Erik A. Sistermans Lidewij Henneman Mireille N. Bekker Peter G. Scheffer 《黑龙江环境通报》2023,43(7):838-853
Objective
To perform a systematic review and meta-analysis of the available literature on low fetal fraction (LFF) in cell-free DNA (cfDNA) screening and the risk of fetal chromosomal aberrations.Method
We searched articles published between January 2010 and May 2021 in PubMed and EMBASE databases. Risk of bias was assessed using QUADAS-2.Results
Twenty-seven studies met the inclusion criteria, comprising data of 243,700 singleton pregnancies. Compared to normal fetal fraction, LFF was associated with a higher risk of trisomy 13 (OR 5.99 [3.61–9.95], I 2 of heterogeneity = 0%, n = 22 studies), trisomy 18 (OR 4.46 [3.07–6.47], I 2 = 0%, n = 22 studies), monosomy X (OR 5.88 [2.34–14.78], I 2 = 18%, n = 10 studies), and triploidy (OR 36.39 [9.83–134.68], I 2 = 61%, n = 6 studies), but not trisomy 21 (OR 1.25 [0.76–2.03], I 2 = 36%, n = 23 studies). LFF was also associated with a higher risk of various other types of fetal chromosomal aberrations (OR 4.00 [1.78–9.00], I 2 = 2%, n = 11 studies). Meta-analysis of proportions showed that absolute rates of fetal chromosomal aberrations ranged between 1% and 2% in women with LFF. A limitation of this review is the potential risk of ascertainment bias because of differences in outcome assessment between pregnancies with LFF and those with normal fetal fraction. Heterogeneity in population characteristics or applied technologies across included studies may not have been fully addressed.Conclusion
An LFF test result in cfDNA screening is associated with an increased risk of fetal trisomy 13, trisomy 18, monosomy X, and triploidy, but not trisomy 21. Further research is needed to assess the association between LFF and other specific types of fetal chromosomal aberrations. 相似文献4.
Fetal loss through miscarriage or termination of pregnancy for genetic reasons often provokes the grief of bereavement. This is not fully understood, and the extent of the distress is often underestimated by professionals and family alike. We have examined elements of the normal bereavement process and have found that they may occur in specific and accentuated forms in mid-trimester fetal loss. We discuss our findings in the light of the attachment theory—a psychodynamic model for understanding grief reactions. 相似文献
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Immediate and unexplained fetal death during mid-trimester amniocentesis for prenatal diagnosis was found to be an uncommon though real phenomenon. A survey of programmes in the United States detected 5 cases from 7524 at 4 centres. Postmortem examination was not helpful and a neurogenic mechanism is postulated. Awareness of this phenomenon and routine pre- and post-amniocentesis ultrasound monitoring may clarify the actual prevalence and etiology. 相似文献
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One ‘erroneous’ diagnosis occurred in 200 first-trimester chorionic villus samples (CVS) analysed. In direct preparations following 24 h incubation as well as in long-term cultures, a 46.XX karyotype was observed in the villi (28 and 25 cells, respectively). At 20 weeks of gestation, labour was induced because of fetal death in utero. An autopsy performed on the fetus revealed a male phenotype. Placenta and fetal tissues were not submitted for cytogenetic studies. The discordant CVS karyotype (46,XX), in view of the male fetal phenotype, prompted further cytogenetic and molecular studies. Chromosome marker studies on the parents' blood and chorionic villi confirmed both maternal and paternal inheritance of chromosomes in the CVS. DNA studies on formalin-fixed skin using a Y-specific probe, DYZ1, confirmed the presence of a Y chromosome in the fetus. The most likely cause of the discrepant CVS karyotype is the presence of an undetected degenerating dizygotic twin. 相似文献
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Maria Neofytou Nathalie Brison Kris Van den Bogaert Luc Dehaspe Koen Devriendt Anja Geerts Joris R. Vermeesch 《黑龙江环境通报》2018,38(2):148-150
Noninvasive prenatal testing (NIPT) can very accurately determine fetal sex during pregnancy. We present an exceptional case where NIPT contradicts the ultrasound-based sex determination. The pregnant woman was recipient of a liver transplant from a male donor. Graft-derived cell-free DNA released into the maternal circulation clouded the NIPT-based sex determination. Hence, NIPT is not advisable when the pregnant mother underwent an organ transplant. 相似文献
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Julia Geppert Chris Stinton Samantha Johnson Aileen Clarke Dimitris Grammatopoulos Sian Taylor-Phillips 《黑龙江环境通报》2020,40(4):454-462