References
1. Speer PD, Canavan T, Simhan HN, Hill LM. Prenatal midtrimester fetal long bone measurements and the prediction of small-for-gestational-age fetuses at term. Am J Perinatol. 2014 Mar;31(3):231-6.
2. Beke A, Papp C, Toth-Pal E, Mezei G, Joo JG, Csaba A, et al. Trisomies and other chromosome abnormalities detected after positive sonographic findings. J Reprod Med. 2005 Sep;50(9):675-91.
3. Rao R, Platt LD. Ultrasound screening: Status of markers and efficacy of screening for structural abnormalities. Semin Perinatol. 2016 Feb;40(1):67-78.
4. Kaijomaa M, Ulander VM, Ryynanen M, Stefanovic V. Risk of Adverse Outcomes in Euploid Pregnancies With Isolated Short Fetal Femur and Humerus on Second-Trimester Sonography. J Ultrasound Med. 2016 Dec;35(12):2675-80.
5. Weisz B, David AL, Chitty L, Peebles D, Pandya P, Patel P, et al. Association of isolated short femur in the mid-trimester fetus with perinatal outcome. Ultrasound Obstet Gynecol. 2008 May;31(5):512-6.
6. Aviram A, Bardin R, Wiznitzer A, Yogev Y, Hadar E. Midtrimester Isolated Short Femur Length as a Predictor of Adverse Pregnancy Outcome. Fetal Diagn Ther. 2015;38(3):205-11.
7. Mathiesen JM, Aksglaede L, Skibsted L, Petersen OB, Tabor A, Danish Fetal Medicine Study G. Outcome of fetuses with short femur length detected at second-trimester anomaly scan: a national survey. Ultrasound Obstet Gynecol. 2014 Aug;44(2):160-5.
8. Agathokleous M, Chaveeva P, Poon LC, Kosinski P, Nicolaides KH. Meta-analysis of second-trimester markers for trisomy 21. Ultrasound Obstet Gynecol. 2013 Mar;41(3):247-61.
9. Kasraeian M, Shahraki HR, Asadi N, Vafaei H, Sameni S. Cross-sectional study of fetal long-bone length in an Iranian population at 17-25 weeks of gestation. Int J Gynaecol Obstet. 2017 Apr;137(1):20-5.
10. Chandler N, Best S, Hayward J, Faravelli F, Mansour S, Kivuva E, et al. Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management. Genet Med. 2018 Nov;20(11):1430-7.
11. Liu J, Huang L, He Z, Lin S, Wang Y, Luo Y. Clinical value of genetic analysis in prenatal diagnosis of short femur. Mol Genet Genomic Med. 2019 Nov;7(11):e978.
12. Bardin R, Hadar E, Haizler-Cohen L, Gabbay-Benziv R, Meizner I, Kahana S, et al. Cytogenetic analysis in fetuses with late onset abnormal sonographic findings. J Perinat Med. 2018 Nov 27;46(9):975-82.
13. Sagi-Dain L, Cohen Vig L, Kahana S, Yacobson S, Tenne T, Agmon-Fishman I, et al. Chromosomal microarray vs. NIPS: analysis of 5541 low-risk pregnancies. Genet Med. 2019 Nov;21(11):2462-7.
14. Srebniak MI, Joosten M, Knapen M, Arends LR, Polak M, van Veen S, et al. Frequency of submicroscopic chromosomal aberrations in pregnancies without increased risk for structural chromosomal aberrations: systematic review and meta-analysis. Ultrasound Obstet Gynecol. 2018 Apr;51(4):445-52.
15. Hook EB. Rates of chromosome abnormalities at different maternal ages. Obstet Gynecol. 1981 Sep;58(3):282-5.
16. Sagi-Dain L, Maya I, Reches A, Frumkin A, Grinshpun-Cohen J, Segel R, et al. Chromosomal Microarray Analysis Results From Pregnancies With Various Ultrasonographic Anomalies. Obstet Gynecol. 2018 Dec;132(6):1368-75.
17. Wapner RJ, Martin CL, Levy B, Ballif BC, Eng CM, Zachary JM, et al. Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med. 2012 Dec 6;367(23):2175-84.
18. Perez-Cruz M, Cruz-Lemini M, Fernandez MT, Parra JA, Bartrons J, Gomez-Roig MD, et al. Fetal cardiac function in late-onset intrauterine growth restriction vs small-for-gestational age, as defined by estimated fetal weight, cerebroplacental ratio and uterine artery Doppler. Ultrasound Obstet Gynecol. 2015 Oct;46(4):465-71.
19. Shaffer LG, Rosenfeld JA, Dabell MP, Coppinger J, Bandholz AM, Ellison JW, et al. Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound. Prenat Diagn. 2012 Oct;32(10):986-95.
20. Chen CP, Lin SP, Chern SR, Wu PS, Chen SW, Lai ST, et al. A 13-year-old girl with 18p deletion syndrome presenting Turner syndrome-like clinical features of short stature, short webbed neck, low posterior hair line, puffy eyelids and increased carrying angle of the elbows. Taiwan J Obstet Gynecol. 2018 Aug;57(4):583-7.
21. Javadiyan S, Craig JE, Sharma S, Lower KM, Casey T, Haan E, et al. Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Ayme-Gripp syndrome). BMC Med Genet. 2017 May 8;18(1):52.
22. Motokawa M, Watanabe S, Nakatomi A, Kondoh T, Matsumoto T, Morifuji K, et al. A hot-spot mutation in CDC42 (p.Tyr64Cys) and novel phenotypes in the third patient with Takenouchi-Kosaki syndrome. J Hum Genet. 2018 Mar;63(3):387-90.
23. Ulirsch JC, Verboon JM, Kazerounian S, Guo MH, Yuan D, Ludwig LS, et al. The Genetic Landscape of Diamond-Blackfan Anemia. Am J Hum Genet. 2018 Dec 6;103(6):930-47.
24. Weichert J, Hartge D, Germer U, Axt-Fliedner R, Gembruch U. Persistent right umbilical vein: a prenatal condition worth mentioning? Ultrasound Obstet Gynecol. 2011 May;37(5):543-8.
25. Sachwitz J, Meyer R, Fekete G, Spranger S, Matuleviciene A, Kucinskas V, et al. NSD1 duplication in Silver-Russell syndrome (SRS): molecular karyotyping in patients with SRS features. Clin Genet. 2017 Jan;91(1):73-8.
26. Dikow N, Maas B, Gaspar H, Kreiss-Nachtsheim M, Engels H, Kuechler A, et al. The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome? Am J Med Genet A. 2013 Sep;161A(9):2158-66.
27. Sotos JF. Sotos syndrome 1 and 2. Pediatr Endocrinol Rev. 2014 Sep;12(1):2-16.
28. Tatton-Brown K, Douglas J, Coleman K, Baujat G, Cole TR, Das S, et al. Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. Am J Hum Genet. 2005 Aug;77(2):193-204.
29. Chen CP, Lin SP, Lin CC, Chen YJ, Chern SR, Li YC, et al. Molecular cytogenetic analysis of de novo dup(5)(q35.2q35.3) and review of the literature of pure partial trisomy 5q. Am J Med Genet A. 2006 Jul 15;140(14):1594-600.
30. Zhang H, Lu X, Beasley J, Mulvihill JJ, Liu R, Li S, et al. Reversed clinical phenotype due to a microduplication of Sotos syndrome region detected by array CGH: microcephaly, developmental delay and delayed bone age. Am J Med Genet A. 2011 Jun;155A(6):1374-8.
31. Franco LM, de Ravel T, Graham BH, Frenkel SM, Van Driessche J, Stankiewicz P, et al. A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion. Eur J Hum Genet. 2010 Feb;18(2):258-61.