Page 53 - 南京医科大学自然版
P. 53
第44卷第8期 王咏梅,吴 云,吴丽君,等. 106例胎儿颈项透明层增厚的超声与遗传学产前诊断结果对照分析[J].
2024年8月 南京医科大学学报(自然科学版),2024,44(8):1076-1081 ·1081 ·
stitutional copy⁃number variants:a jointconsensus recom⁃ 前遗传学诊断及妊娠结局[J]. 现代妇产科进展,2022,
mendation of the American College of Medical Genetics 31(3):186-190
andGenomics(ACMG)and the Clinical Genome Resource [14]IUCULANO A,PAGANI G,STAGNATI V,et al. Pregnan⁃
(Clin Gen)[J]. Genet Med,2020,22(2):245-257 cy outcome and long⁃term follow⁃up of fetuses with isolat⁃
[8] HUANG L Y,PAN M,HAN J,et al. What would be ed increased NT:a retrospective cohort study[J]. J Peri⁃
missed in the first trimester if nuchal translucency mea⁃ nat Med,2016,44(2):237-242
surement is replaced by cell free DNA foetal aneuploidy [15]HUANG J,POON L C,AKOLEKAR R,et al. Is high fetal
screening?[J]. J Obstet Gynaecol,2018,38(4):498-501 nuchal translucency associated with submicroscopic
[9] MINNELLA G P,CRUPANO F M,SYNGELAKI A,et al. chromosomal abnormalities on array CGH?[J]. Ultra⁃
Diagnosis of major heart defects by routine first⁃trimester sound obstet gynecol,2014,43(6):620-624
ultrasound examination:association with increased nu⁃ [16]EMMS A,CASTLEMAN J,ALLEN S,et al.Next genera⁃
chal translucency,tricuspid regurgitation and abnormal tion sequencing after invasive prenatal testing in fetuses
flow in ductus venosus[J].Ultrasound Obstet Gynecol, with congenital malformations:prenatal or neonatal inves⁃
2020,55(5):637-644 tigation[J]. Genes,2022,13(9):1517
[10]袁小波,朱文兵. 探讨颈项透明层厚度与胎儿染色体异 [17]XUE S Y,YAN H C,CHEN J S,et al. Genetic examina⁃
常及妊娠结局的关系[J]. 中国妇幼保健,2019,34 tion for fetuses with increased fetal nuchal translucency
(13):3115-3117 by genomic technology[J]. Cytogenet Genome Res,2020,
[11]EDWARDS L,HUI L. First and second trimester screen⁃ 160(2):57-62
ing for fetal structural anomalies[J]. Semin Fetal Neona⁃ [18]全外显子组测序技术在产前诊断中的应用协作组,娄
tal Med,2018,23(2):102-111 桂予,侯巧芳,等. 全外显子组测序技术在产前诊断中
[12]薛淑雅,陈兢思,张慧敏,等. 颈部透明层增厚与染色体 应用 的专家共识[J]. 中华医学遗传学杂志,2022,39
异常的相关分析[J]. 实用妇产科杂志,2019,35(5): (5):457-463
382-385 [收稿日期] 2024-03-03
[13]曾 婷,唐海燕,李艳颜,等. 胎儿颈项透明层增厚的产 (本文编辑:唐 震)
欢迎关注我刊微博、微信公众号!