| 1 |
Agathokleous M, Chaveeva P, Poon LC, et al. Meta-analysis of second-trimester markers for trisomy 21[J]. Ultrasound Obstet Gynecol, 2013, 41(3):247-261.
|
| 2 |
Cho RC, Chu P, Smith-Bindman R. Second trimester prenatal ultrasound for the detection of pregnancies at increased risk of trisomy 18 based on serum screening[J]. Prenat Diagn, 2009, 29(2):129-139.
|
| 3 |
Watson WJ, Miller RC, Wax JR, et al. Sonographic findings of trisomy 18 in the second trimester of pregnancy[J]. J Ultrsound Med, 2008, 27(7):1033-1039.
|
| 4 |
周怡，王玲，赵晟，等．胎儿肢体畸形的超声诊断及染色体异常的相关分析[J]．安徽医科大学学报，2012，47(2)：175-177.
|
| 5 |
Vermeer N, Bekker MN. Association of isolated short fetal femur with intrauterine growth restriction[J]. Prenat Diagn, 2013, 33(4):365-370.
|
| 6 |
Weisz B, David AL, Chitty L, et al. Association of isolated short femur in the mid-trimester fetus with perinatal outcome[J]. Ultrasound Obstet Gynecol, 2008, 31(5):512-516.
|
| 7 |
Papageorghiou AT, Fratelli N, Leslie K, et al. Outcome of fetuses with antenatally diagnosed short femur[J]. Ultrasound Obstet Gynecol, 2008, 31(5):507-511.
|
| 8 |
Mathiesen JM, Aksglaede L, Skibsted L, et al. Outcome of fetuses with short femur length detected at second trimester malformation scan: a national survey[J].Ultrasound Obstet Gynecol, 2013, 43(5):13286.
|
| 9 |
Morales-Roselló J, Peralta-Llorens N. Outcome of fetuses with diagnosis of isolated short femur in the second half of pregnancy[J]. ISRN Obstet Gynecol, 2012: 268218.
|
| 10 |
袁静，严小艳，丛林．胎儿四肢短小的产前诊断研究进展[J]．安徽医学，2007，28(3)：272-274.
|
| 11 |
Michiel C, Van den Hof, Halifax NS, et al. Fetal soft markers in obstetric ultrasound[J]. J Obstet Gynaecol Can, 2005, 27(6):592-636.
|
| 12 |
黄勤，刘志伟．胎儿肢体畸形的产前超声检查最适时间探讨[J]．中国超声医学杂志，2009，25(2)：167-170.
|
| 13 |
刘斌，高茂英．人体胚胎学[M]．北京：人民卫生出版社，1996：360-385.
|
| 14 |
高茂英．组织学与胚胎学[M]．北京：高等教育出版社，2010：35-39，233.
|
| 15 |
Garne E, Dolk H, Loane M, et al. EUROCAT website data on prenatal detection rates of congenital anomalies[J]. J Med Screen, 2010, 17(2):97-98.
|
| 16 |
杨太珠．胎儿骨骼系统畸形的超声诊断[J]．中国实用妇科与产科杂志，2005，21(9)：528-530.
|
| 17 |
宋晶，王欣．胎儿肢体发育异常18例产前诊断[J]．中华妇产科杂志，2010，45(10)：745-749.
|
| 18 |
Nardozza LM, Araujo-Júnior E, Caetano AC, et al. Prenatal diagnosis of amniotic band syndrome in the third trimester of pregnancy using 3D ultrasound[J]. J Clin Imaging Sci, 2012, 2:22.
|
| 19 |
Buccoliero AM, Castiglione F, Garbini F, et al. Amniotic band syndrome: a case report[J]. Pathologica, 2011, 103(1):11-13.
|
| 20 |
Syngelaki A, Chelemen T, Dagklis T, et al. Challenges in the diagnosis of fetal non-chromosomal abnormalities at 11-13 weeks[J]. Prenat Diagn, 2011, 31(1):90-102.
|
| 21 |
Matsushita T, Wilcox WR, Chan YY, et al. FGFR3 promotes synchondrosis closure and fusion of ossification centers through the MAPK pathway[J]. Hum Mol Genet, 2009, 18(2):227-240.
|
| 22 |
Dwornik JJ, Moore KL. Skeletal malformations in the holtzman rat embryo following the administration of thalidomide[J]. J Embryol Exp Morphol, 1965, 13:181-193.
|
| 23 |
张国正，葛群，王海涛．胎儿股骨短小的临床诊疗分析(附276例病例报告)[J]．中国优生与遗传杂志，2008，16(12)：97-98.
|
| 24 |
Goetzinger KR, Cahill AG, Macones GA, et al. Isolated short femur length on second-trimester sonography: a marker for fetal growth restriction and other adverse perinatal outcomes[J]. J Ultrasound Med, 2012, 31(12):1935-1941.
|
| 25 |
Özlü T, Ozcan T. Fetal isolated short femur in the second trimester and adverse pregnancy outcomes[J]. Prenat Diagn, 2013, 33(11):1063-1069.
|
| 26 |
Goetzinger KR, Dicke JM, Gray DL, et al. The effect of fetal gender in predicting Down syndrome using long bone ultrasonographic measurements[J]. Prenat Diagn, 2010, 30(10):950-955.
|
| 27 |
Wang H, Sun Y, Wu W, et al. A novel missense mutation of FGFR3 in a Chinese female and her fetus with Hypochondroplasia by next-generation sequencing[J]. Clin Chim Acta, 2013, 423:62-65.
|
| 28 |
Vimercati A, Panzarino M, Totaro I, et al. Increased nuchal translucency and short femur length as possible early signs of osteogenesis imperfecta type Ⅲ[J]. J Prenat Med, 2013, 7(1):5-8.
|
| 29 |
Tonni G, Lituania M, Rosignoli L. Craniosynostosis with wormian bone, bowing of the long bones, unilateral short femur, and focal fibula deficiency: a prenatal diagnostic dilemma[J]. J Clin Ultrasound, 2013, 41(7):448-452.
|
| 30 |
徐佩莲，鲁红．胎儿畸形产前超声诊断[M]．北京：人民军医出版社，2008：240.
|
| 31 |
李胜利．胎儿畸形产前超声诊断学[M]．北京：人民军医出版社，2004：338.
|
| 32 |
Parilla BV, Leeth EA, Kambich MP, et al. Antenatal detection of skeletal dysplasias[J]. J Ultrasound Med, 2003, 22(3):255-258.
|
| 33 |
Maymon E, Romem R, Ghezzi F, et al. Fetal skeletal anomalies//Fleischer AC, Manning FA, Jeanty P, eds. Sonography in obstetrics and gynecology: principles&practice. 6th ed[M]. New York: McGraw-Hill, 2001: 445-506.
|
| 34 |
黄林环，方群，谢红宁，等．胎儿短长骨的产前诊断及临床分析[J]．中华医学杂志，2007，87(45)：3178-3182.
|
| 35 |
杨文娟，吴青青，王丽，等．胎儿超声软标记、结构畸形与染色体异常的相关性研究[J]．中华医学超声杂志：电子版，2011，8(1)：64-71.
|
| 36 |
谢幸，苟文丽．妇产科学[M]．北京：人民卫生出版社，2013：113-114.
|
| 37 |
夏欣一，崔英霞，杨滨，等．成骨不全家系Ⅰ型胶原COL1A1基因一个新RNA剪接突变位点的发现[J]．医学研究生学报，2009，22(3)：276-280.
|
| 38 |
张雪莲，曲建平，任立红．COL2A1基因突变致骨骼-软骨发育疾病研究进展[J]．国际遗传学杂志，2012，35(2)：119-124.
|
| 39 |
Driscoll DA, Gross S. Prenatal screening for aneuploidy[J]. N Engl J Med, 2009, 360(24):2556-2562.
|