Chromosomal Microarray Analysis for the Prenatal Diagnosis in Fetuses with Nasal Bone Hypoplasia: A Retrospective Cohort Study

References

• Marsál K. Role of Doppler sonography in fetal/maternal medicine. Curr Opin Obstet Gynecol. 1994;6(1):36–44. doi:10.1097/00001703-199402000-00006
   Web of Science ®Google Scholar
• Van den Hof MC, Wilson RD, Diagnostic Imaging Committee. Society of Obstetricians and Gynaecologists of Canada; Genetics Committee, Society of Obstetricians and Gynaecologists of Canada. Fetal soft markers in obstetric ultrasound. J Obstet Gynaecol Can. 2005;27(6):592–636. doi:10.1016/s1701-2163(16)30720-4
   Google Scholar
• Getz L, Kirkengen AL. Ultrasound screening in pregnancy: advancing technology, soft markers for fetal chromosomal aberrations, and unacknowledged ethical dilemmas. Soc Sci Med. 2003;56(10):2045–2057. doi:10.1016/S0277-9536(02)00200-9
   PubMed Web of Science ®Google Scholar
• Wong SF, Choi H, Ho LC. Nasal bone hypoplasia: is it a common finding amongst chromosomally normal fetuses of southern Chinese women? Gynecol Obstet Invest. 2003;56(2):99–101. doi:10.1159/000072994
   Web of Science ®Google Scholar
• Rao R, Platt LD. Ultrasound screening: status of markers and efficacy of screening for structural abnormalities. SeminPerinatol. 2016;40(1):67–78.
   Google Scholar
• Sciarrone A, Bastonero S, Campogrande M. Ultrasound evaluation of fetal nasal bone at 11 to 14 weeks in a consecutive series of 1906 fetuses. Prenat Diagn. 2003;23(10):784–787. doi:10.1002/pd.694
   Web of Science ®Google Scholar
• Cicero S, Longo D, Rembouskos G, Sacchini C, Nicolaides KH. Absent nasal bone at 11–14 weeks of gestation and chromosomal defects. Ultrasound Obstet Gynecol. 2003;22(1):31–35. doi:10.1002/uog.170
   Web of Science ®Google Scholar
• Odibo AO, Sehdev HM, Dunn L, McDonald R, Macones GA. The association between fetal nasal bone hypoplasia and aneuploidy. Obstet Gynecol. 2004;104(6):1229–1233. doi:10.1097/01.AOG.0000148848.49752.37
   Web of Science ®Google Scholar
• Odibo AO, Sehdev HM, Sproat L, et al. Evaluating the efficiency of using second-trimester nasal bone hypoplasia as a single or a combined marker for fetal aneuploidy. J Ultrasound Med. 2006;25(4):437–441. doi:10.7863/jum.2006.25.4.437
   Web of Science ®Google Scholar
• Cusick W, Provenzano J, Sullivan CA, Gallousis FM, Rodis JF. Fetal nasal bone length in euploid and aneuploid fetuses between 11 and 20 weeks’ gestation: a prospective study. J Ultrasound Med. 2004;23(10):1327–1333. doi:10.7863/jum.2004.23.10.1327
   Web of Science ®Google Scholar
• Węgrzyn P, Czuba B, Serafin D, et al. Nasal bone in screening for T21 at 11–13 + 6 weeks of gestation - a multicenter study. Ginekol Pol. 2016;87(11):751–754. doi:10.5603/GP.2016.0082
   Web of Science ®Google Scholar
• Papasozomenou P, Athanasiadis AP, Zafrakas M, et al. Screening performance of different methods defining fetal nasal bone hypoplasia as a single and combined marker for the detection of trisomy 21 in the second trimester. J Matern Fetal Neonatal Med. 2016;29(20):3368–3373. doi:10.3109/14767058.2015.1127344
   PubMed Web of Science ®Google Scholar
• Yu J, Sun Y, Hu J, Qian Y, Luo Y, Dong M.Single nucleotide polymorphism microarray in prenatal diagnosis of fetuses with absent nasal bone. Zhejiang Da Xue Xue Bao Yi Xue Ban. 2019;48(4):414–419.
   Google Scholar
• Gu YZ, Nisbet DL, Reidy KL, Palma-Dias R. Diagnostic value of chromosomal microarray in fetuses with isolated hypoplastic nasal bone. Ultrasound Obstet Gynecol. 2019;54(2):284. doi:10.1002/uog.20385
   Web of Science ®Google Scholar
• Lin CZ, Qi BR, Hu JS, Huang XQ. A fetus with Kabuki syndrome 2 detected by chromosomal microarray analysis. Int J Clin Exp Pathol. 2020;13(2):302–306.
   Web of Science ®Google Scholar
• Kearney HM, Thorland EC, Brown KK, Quintero-Rivera F, South ST. Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee. American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants. Genet Med. 2011;13(7):680–685. doi:10.1097/GIM.0b013e3182217a3a
   PubMed Web of Science ®Google Scholar
• Wojda KM, Moczulska H, Sieroszewski PJ. The absence of fetal nasal bones in ultrasound examination between 11 + 0 and 13 + 6 weeks of gestation versus the occurrence of trisomies 21, 18, and 13. Ginekol Pol. 2019;90(10):604–606. doi:10.5603/GP.2019.0104
   Web of Science ®Google Scholar
• Bromley B, Lieberman E, Shipp TD, Benacerraf BR. Fetal nose bone length: a marker for Down syndrome in the second trimester. J Ultrasound Med. 2002;21(12):1387–1394. doi:10.7863/jum.2002.21.12.1387
   Web of Science ®Google Scholar
• Sonek JD, Cicero S, Neiger R, Nicolaides KH. Nasal bone assessment in prenatal screening for trisomy 21. Am J Obstet Gynecol. 2006;195(5):1219–1230. doi:10.1016/j.ajog.2005.11.042
   Web of Science ®Google Scholar
• Treff NR, Levy B, Su J, Northrop LE, Tao X, Scott RT Jr. SNP microarray-based 24 chromosome aneuploidy screening is significantly more consistent than FISH. Mol Hum Reprod. 2010;16(8):583–589. doi:10.1093/molehr/gaq039
   Web of Science ®Google Scholar
• Hall GK, Mackie FL, Hamilton S, et al. Chromosomal microarray analysis allows prenatal detection of low level mosaic autosomal aneuploidy. Prenat Diagn. 2014;34(5):505–507. doi:10.1002/pd.4333
   Web of Science ®Google Scholar
• Levy B, Wapner R. Prenatal diagnosis by chromosomal microarray analysis. Fertil Steril. 2018;109(2):201–212. doi:10.1016/j.fertnstert.2018.01.005
   PubMed Web of Science ®Google Scholar
• Wapner RJ, Martin CL, Levy B, et al. Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med. 2012;367(23):2175–2184. doi:10.1056/NEJMoa1203382
   PubMed Web of Science ®Google Scholar
• Ting YH, Lao TT, Lau TK, Chung MK, Leung TY. Isolated absent or hypoplastic nasal bone in the second trimester fetus: is amniocentesis necessary? J Matern Fetal Neonatal Med. 2011;24(4):555–558. doi:10.3109/14767058.2010.487140
   PubMed Web of Science ®Google Scholar
• Lu J, Zhong XH, Li LF, et al.The role of isolated absent nasal bone in the screening of Down syndrome in the second and third trimester. Chin J Birth Health Hered. 2015;23(4):54–56, 40.
   Google Scholar
• Zhao Y, Sun QM, Fu Y, Dai WS, Lin XJ, Wu J. Analysis on genetic significance of fetal nasal bone hypoplasia during the second and the third trimesters of pregnancy. Matern Child Health Care Chin. 2016;31(23):5098–5101.
   Google Scholar
• Ben-Shachar S, Lanpher B, German JR, et al. Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders. J Med Genet. 2009;46(6):382–388. doi:10.1136/jmg.2008.064378
   Web of Science ®Google Scholar
• Ziats MN, Goin-Kochel RP, Berry LN, et al. The complex behavioral phenotype of 15q13.3 microdeletion syndrome. Genet Med. 2016;18(11):1111–1118. doi:10.1038/gim.2016.9
   Web of Science ®Google Scholar
• Hassfurther A, Komini E, Fischer J, Leipoldt M. Clinical and genetic heterogeneity of the 15q13.3 Microdeletion Syndrome. Mol Syndromol. 2016;6(5):222–228. doi:10.1159/000443343
   PubMed Web of Science ®Google Scholar
• Pizzo L, Andrieux J, Amor DJ, Girirajan S. Clinical utility gene card for: 16p12.2 microdeletion. Eur J Hum Genet. 2017;25(2):271. doi:10.1038/ejhg.2016.158
   Web of Science ®Google Scholar
• Rosenfeld JA, Coe BP, Eichler EE, Cuckle H, Shaffer LG. Estimates of penetrance for recurrent pathogenic copy-number variations. Genet Med. 2013;15(6):478–481. doi:10.1038/gim.2012.164
   PubMed Web of Science ®Google Scholar
• Kirov G, Rees E, Walters JT, et al. The penetrance of copy number variations for schizophrenia and developmental delay. Biol Psychiatry. 2014;75(5):378–385. doi:10.1016/j.biopsych.2013.07.022
   PubMed Web of Science ®Google Scholar
• Attarian S, Fatehi F, Rajabally YA, Pareyson D. Hereditary neuropathy with liability to pressure palsies. J Neurol. 2020;267(8):2198–2206. doi:10.1007/s00415-019-09319-8
   Web of Science ®Google Scholar
• Lefour S, Gallouedec G, Magy L. Comparison of clinical and electrophysiological features of patients with hereditary neuropathy with liability to pressure palsies with or without pain. J Neurol Sci. 2020;409:116629. doi:10.1016/j.jns.2019.116629
   Web of Science ®Google Scholar
• Magoulas PL, El-Hattab AW. Chromosome 15q24 microdeletion syndrome. Orphanet J Rare Dis. 2012;7:2. doi:10.1186/1750-1172-7-2
   Web of Science ®Google Scholar
• Breman A, Pursley AN, Hixson P, et al. Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature. Prenat Diagn. 2012;32(4):351–361. doi:10.1002/pd.3861
   PubMed Web of Science ®Google Scholar
• Hillman SC, Pretlove S, Coomarasamy A, et al. Additional information from array comparative genomic hybridization technology over conventional karyotyping in prenatal diagnosis: a systematic review and meta-analysis. Ultrasound Obstet Gynecol. 2011;37(1):6–14. doi:10.1002/uog.7754
   PubMed Web of Science ®Google Scholar
• Faas BH, van der Burgt I, Kooper AJ, et al. Identification of clinically significant, submicroscopic chromosome alterations and UPD in fetuses with ultrasound anomalies using genome-wide 250k SNP array analysis. J Med Genet. 2010;47(9):586–594. doi:10.1136/jmg.2009.075853
   PubMed Web of Science ®Google Scholar
• Shen W, Szankasi P, Durtschi J, Kelley TW, Xu X. Genome-wide copy number variation detection using NGS: data analysis and interpretation. Methods Mol Biol. 2019;1908:113–124.
   Google Scholar
• Ellingford JM, Campbell C, Barton S, et al. Validation of copy number variation analysis for next-generation sequencing diagnostics. Eur J Hum Genet. 2017;25(6):719–724. doi:10.1038/ejhg.2017.42
   PubMed Web of Science ®Google Scholar
• Yao R, Yu T, Qing Y, Wang J, Shen Y. Evaluation of copy number variant detection from panel-based next-generation sequencing data. Mol Genet Genomic Med. 2019;7(1):e00513. doi:10.1002/mgg3.513
   Web of Science ®Google Scholar
• Dukhovny S, Norton ME. What are the goals of prenatal genetic testing? Semin Perinatol. 2018;42(5):270–274. doi:10.1053/j.semperi.2018.07.002
   PubMed Web of Science ®Google Scholar
• Oneda B, Rauch A. Microarrays in prenatal diagnosis. Best Pract Res Clin Obstet Gynaecol. 2017;42:53–63. doi:10.1016/j.bpobgyn.2017.01.003
   PubMed Web of Science ®Google Scholar
• Stosic M, Levy B, Wapner R. The use of chromosomal microarray Analysis in prenatal diagnosis. Obstet Gynecol Clin North Am. 2018;45(1):55–68. doi:10.1016/j.ogc.2017.10.002
   PubMed Web of Science ®Google Scholar
• Lo JO, Shaffer BL, Feist CD, Caughey AB. Chromosomal microarray analysis and prenatal diagnosis. Obstet Gynecol Surv. 2014;69(10):613–621. doi:10.1097/OGX.0000000000000119
   PubMed Web of Science ®Google Scholar