Prenatal sonographic findings in a cohort of foetuses with a confirmed 22q11.2 microdeletion at a single Chinese Tertiary Centre

References

• Anilkumar A, Kappanayil M, Thampi MV, Nampoothiri S, Sundaram KR, Vasudevan DM. 2011. Variation in prevalence of chromosome 22q11 deletion in subtypes of conotruncal defect in 254 children. Acta Paediatrica 100:e97-100–100.
   PubMed Web of Science ®Google Scholar
• Bassett AS, McDonald-McGinn DM, Devriendt K, Digilio MC, Goldenberg P, Habel A, International 22q11.2 Deletion Syndrome Consortium, et al. 2011. Practical guidelines for managing patients with 22q11.2 deletion syndrome. The Journal of Pediatrics 159:332–339.e1.
   PubMed Web of Science ®Google Scholar
• Bataeva R, Bellsham-Revell H, Zidere V, Allan LD. 2013. Reliability of fetal thymus measurement in prediction of 22q11.2 deletion: a retrospective study using four-dimensional spatiotemporal image correlation volumes. Ultrasound in Obstetrics and Gynecology 41:172–176.
   PubMed Web of Science ®Google Scholar
• Bengoa-Alonso A, Artigas-López M, Moreno-Igoa M, Cattalli C, Hernández-Charro B, Ramos-Arroyo MA. 2016. Delineation of a recognizable phenotype for the recurrent LCR22-C to D/E atypical 22q11.2 deletion. American Journal of Medical Genetics. Part A 170:1485–1494.
   PubMed Web of Science ®Google Scholar
• Besseau-Ayasse J, Violle-Poirsier C, Bazin A, Gruchy N, Moncla A, Girard F, et al. 2014. A French collaborative survey of 272 fetuses with 22q11.2 deletion: ultrasound findings, fetal autopsies and pregnancy outcomes. Prenatal Diagnosis 34:424–430.
   PubMed Web of Science ®Google Scholar
• Bevilacqua E, Jani J, Chaoui R, Suk EA, Palma-Dias R, Ko TM, et al. 2021. Performance of a targeted cell-free DNA prenatal test for 22q11.2 deletions in a large clinical cohort. Ultrasound in Obstetrics & Gynecology 58:597–602.
   PubMed Web of Science ®Google Scholar
• Chaoui R, Heling KS, Zhao Y, Sinkovskaya E, Abuhamad A, Karl K. 2016. Dilated cavum septi pellucidi in fetuses with microdeletion 22q11. Prenatal Diagnosis 36:911–915.
   PubMed Web of Science ®Google Scholar
• Ding H, Zhao D, Cai A, Wei Q. 2019. Dilated cavum septi pellucidi as sole prenatal ultrasound defect: Case-base analysis of fetal outcomes. European Journal of Obstetrics and Gynecology and Reproductive Biology 237:85–88.
   PubMed Web of Science ®Google Scholar
• Donnenfeld AE, Cutillo D, Horwitz J, Knops J. 2006. Prospective study of 22q11 deletion analysis in fetuses with excess nuchal translucency. American Journal of Obstetrics and Gynecology 194:508–511.
   PubMed Web of Science ®Google Scholar
• Goldmuntz E. 2020. 22q11.2 deletion syndrome and congenital heart disease. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics 184:64–72.
   PubMed Web of Science ®Google Scholar
• Hollis B, Mavrides E, Carvalho JS, Hill L, Dickinson V, Thilaganathan B. 2001. Significance of chromosome 22q11 analysis after detection of an increased first-trimester nuchal translucency. Ultrasound in Obstetrics & Gynecology 18:32–34.
   PubMed Web of Science ®Google Scholar
• Homans JF, Crowley TB, Chen E, McGinn DE, Deeney VFX, Sakkers RJB, et al. 2018. Club foot in association with the 22q11.2 deletion syndrome: an observational study. American Journal of Medical Genetics. Part A 176:2135–2139.
   PubMed Web of Science ®Google Scholar
• ISUOG, Carvalho JS, Allan LD, Chaoui R, Copel JA, DeVore GR, Hecher K, et al. 2013. ISUOG Practice Guidelines (updated): sonographic screening examination of the fetal heart. Ultrasound in Obstetrics & Gynecology 41:348–359.
   PubMed Web of Science ®Google Scholar
• Kong CW, Cheng YKY, To WWK, Leung TY, Department of Obstetrics and Gynaecology, United Christian Hospital, Kwun Tong, Hong Kong 2019. Prevalence of chromosomal abnormalities and 22q11.2 deletion in conotruncal and non-conotruncal antenatally diagnosed congenital heart diseases in a Chinese population. Hong Kong Medical Journal 25:6–12.
   PubMed Web of Science ®Google Scholar
• Lautrup CK, Kjaergaard S, Brøndum-Nielsen K, Fagerberg C, Hertz JM, Petersen OB, et al. 2008. Testing for 22q11 microdeletion in 146 fetuses with nuchal translucency above the 99th percentile and a normal karyotype. Acta Obstetricia et Gynecologica Scandinavica 87:1252–1255.
   PubMed Web of Science ®Google Scholar
• Li R, Wan J, Zhang Y, Fu F, Ou Y, Jing X, et al. 2016. Detection of fetal copy number variants by non-invasive prenatal testing for common aneuploidies. Ultrasound in Obstetrics and Gynecology 47:53–57.
   PubMed Web of Science ®Google Scholar
• Li S, Han X, Ye M, Chen S, Shen Y, Niu J, et al. 2019. Prenatal Diagnosis of Microdeletions or Microduplications in the Proximal, Central, and Distal Regions of Chromosome 22q11.2: Ultrasound Findings and Pregnancy Outcome. Frontiers in Genetics 10:813.
   PubMed Web of Science ®Google Scholar
• Nabeshima T, Fujii T, Nagamatsu T, Hashimoto A, Seyama T, Kubota K, et al. 2020. Polyhydramnios is associated with postnatal dysphagia determining short-term prognosis of the newborn with 22q11.2 deletion syndrome – A case series analysis. Taiwanese Journal of Obstetrics & Gynecology 59:744–747.
   PubMed Web of Science ®Google Scholar
• Nickel RE, Magenis RE. 1996. Neural tube defects and deletions of 22q11. American Journal of Medical Genetics 66:25–27.
   PubMed Web of Science ®Google Scholar
• Perolo A, De Robertis V, Cataneo I, Volpe N, Campobasso G, Frusca T, et al. 2016. Risk of 22q11.2 deletion in fetuses with right aortic arch and without intracardiac anomalies. Ultrasound in Obstetrics and Gynecology 48:200–203.
   PubMed Web of Science ®Google Scholar
• Rump P, de Leeuw N, van Essen AJ, Verschuuren-Bemelmans CC, Veenstra-Knol HE, Swinkels ME, et al. 2014. Central 22q11.2 deletions. American Journal of Medical Genetics Part A 164A:2707–2723.
   PubMed Web of Science ®Google Scholar
• Sacca R, Zur KB, Crowley TB, Zackai EH, Valverde KD, McDonald-McGinn DM. 2017. Association of airway abnormalities with 22q11.2 deletion syndrome. International Journal of Pediatric Otorhinolaryngology 96:11–14.
   PubMed Web of Science ®Google Scholar
• Sarac Sivrikoz T, Basaran S, Has R, Karaman B, Kalelioglu IH, Kirgiz M, et al. 2022. Prenatal sonographic and cytogenetic/molecular findings of 22q11.2 microdeletion syndrome in 48 confirmed cases in a single tertiary center. Archives of Gynecology and Obstetrics 305:323–342. Jun 18.
   PubMed Web of Science ®Google Scholar
• Schindewolf E, Khalek N, Johnson MP, Gebb J, Coleman B, Crowley TB, et al. 2018. Expanding the fetal phenotype: Prenatal sonographic findings and perinatal outcomes in a cohort of patients with a confirmed 22q11.2 deletion syndrome. American Journal of Medical Genetics Part A 176:1735–1741.
   PubMed Web of Science ®Google Scholar
• Salomon LJ, Alfirevic Z, Berghella V, Bilardo C, Hernandez-Andrade E, Johnsen SL, ISUOG Clinical Standards Committee, et al. 2011. Practice guidelines for performance of the routine mid-trimester fetal ultrasound scan. Ultrasound in Obstetrics and Gynecology 37:116–126.
   PubMed Web of Science ®Google Scholar
• Stosic M, Levy B, Wapner R. 2018. The Use of Chromosomal Microarray Analysis in Prenatal Diagnosis. Obstetrics and Gynecology Clinics of North America 45:55–68.
   PubMed Web of Science ®Google Scholar
• Van Batavia JP, Crowley TB, Burrows E, Zackai EH, Sanna-Cherchi S, McDonald-McGinn DM, et al. 2019. Anomalies of the genitourinary tract in children with 22q11.2 deletion syndrome. American Journal of Medical Genetics Part A 179:381–385.
   PubMed Web of Science ®Google Scholar
• Van Opstal D, de Vries F, Govaerts L, Boter M, Lont D, van Veen S, et al. 2015. Benefits and burdens of using a SNP array in pregnancies at increased risk for the common aneuploidies. Human Mutation 36:319–326.
   PubMed Web of Science ®Google Scholar
• Wapner RJ, Martin CL, Levy B, Ballif BC, Eng CM, Zachary JM, et al. 2012. Chromosomal microarray versus karyotyping for prenatal diagnosis. The New England Journal of Medicine 367:2175–2184.
   PubMed Web of Science ®Google Scholar
• Yamagishi H, Maeda J, Tokumura M, Yoshiba S, Takahashi E, Fukushima H, et al. 2000. Ventricular septal defect associated with microdeletions of chromosome 22q11.2. Clinical Genetics 58:493–496.
   PubMed Web of Science ®Google Scholar