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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)






























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