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Journal of Obstetrics and Gynaecology Volume 42, 2022 - Issue 7
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Prenatal diagnosis of Emanuel syndrome – case series and review of the literature

Patrycja Piwowarczyka Department of Gynecologic Oncology and Obstetrics, Centre of Postgraduate Medical Education, Warsaw, Poland
,
Diana Massalskaa Department of Gynecologic Oncology and Obstetrics, Centre of Postgraduate Medical Education, Warsaw, PolandCorrespondence[email protected]
ORCID Iconhttps://orcid.org/0000-0002-0547-6388
ORCID Icon,
Izabela Obodzińskab Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland
,
Sylwia Gawlik Zawiślakb Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland
,
Julia Bijoka Department of Gynecologic Oncology and Obstetrics, Centre of Postgraduate Medical Education, Warsaw, Poland
,
Anna Kucińska-Chahwanc Department of Human Genetics, Institute of Mother and Child, Warsaw, Poland;d Department of Obstetrics and Gynecology, Institute of Mother and Child, Warsaw, Poland
&
Tomasz Roszkowskid Department of Obstetrics and Gynecology, Institute of Mother and Child, Warsaw, Poland
 show all
Pages 2615-2620 | Published online: 01 Sep 2022

References

  • Adams LE, Chapman A, Cormack CL, Campbell K, Ebanks AH, Annibale DJ, et al. 2021. Emanuel syndrome and congenital diaphragmatic hernia: a systematic review. Pediatric Surgery 57:24–28.
  • Carter MT, St Pierre SA, Zackai EH, Emanuel BS, Boycott KM. 2009. Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): clinical features of 63 individuals. American Journal of Medical Genetics. Part A 149A:1712–1721.
  • Chen CP, Liu FF, Jan SW, Yang YC, Lan CC. 1996. Prenatal diagnosis of supernumerary der(22)t(11;22) associated with the Dandy-Walker malformation in a fetus. Prenatal Diagnosis 16:1137–1140.
  • Emanuel BS. 2017. Emanuel syndrome. GeneReviews. [Internet]. Seattle (WA): University of Washington, Seattle; 1993. 2007 Apr 20 [updated 2017 Aug 31].
  • Goldstein I, Makhoul IR, Tamir A, Rajamim B-S, Nisman D. 2002. Ultrasonographic nomograms of the fetal fourth ventricle. Journal of Ultrasound in Medicine 21:849–856.
  • Gremeau AS, Coste K, Blanc P, Goumy C, Francannet C, Dechelotte PJ, et al. 2009. Congenital diaphragmatic hernia and genital anomalies: Emanuel syndrome. Prenatal Diagnosis 29:816–818.
  • Guven MA, Ceylaner G, Ceylaner S, Coskun A. 2006. Prenatal diagnosis of a case with Emanuel syndrome (supernumerary der (22) syndrome). Ultrasound in Obstetrics and Gynecology 28:522–561.
  • Hao X, Wu J, Fu W, Zhang R, Zhong S, Deng Y, et al. 2022. Prenatal diagnosis of fetuses with Emanuel syndrome: results of ultrasound examination and invasive genetic testing. Prenatal Diagnosis 42:469–477.
  • Kadir RA, Hastings R, Economides DL. 1997. Prenatal diagnosis of supernumerary chromosome derivative (22) due to maternal balances translocation in association with diaphragmatic hernia: a case report. Prenatal Diagnosis 17:761–764.
  • Kee SK, Hsu-Lin See V, Chia P, Tan WC, Tien SL, Lim STA. 2013. Differential outcomes in an extended family with constitutional t(11;22)(q23.3;q11.2). Journal of Pediatric Genetics 2:37–41.
  • Kilijanova D, Hynek M, Prosova B, Hejtmankova M, Smetanova D. 2017. Prenatal diagnosis of Emanuel syndrome: a case report. Ultrasound in Obstetrics & Gynecology 50:312–399.
  • Luo Y, Lin J, Sun Y, Qian Y, Wang L, Chen M, et al. 2020a. Non-invasive prenatal screening for Emanuel syndrome. Molecular Cytogenetics 13:9.
  • Luo Y, Lin J, Sun Y, Qian Y, Wang L, Chen M, et al. 2020b. Prenatal diagnosis of supernumerary der(22)t(11;22) associated with the Dandy-Walker malformation in a fetus. Molecular Cytogenetics 16:1137–1140.
  • Mahdavi M, Sharafi SM, Daniali SS, Riahi R, Kheirollahi M. 2020. The clinical effectiveness of preimplantation genetic diagnosis for chromosomal translocation carriers: a meta-analysis. Global Medical Genetics 7:14–21.
  • Ohye T, Inagaki H, Kato T, Tsutsumi M, Kurahashi H. 2014. Prevalence of Emanuel syndrome: theoretical frequency and surveillance result. Pediatrics International 56:462–466.
  • Piwowarczyk P, Massalska D, Obodzińska I, Gawlik Zawiślak S, Bijok J, Kucińska-Chahwan A, et al. 2022. Prenatal diagnosis of Emanuel syndrome – case series and review of the literature. Journal of Obstetrics and Gynaecology. https://doi.org/10.1080/01443615.2022.2114331
  • Sou S, Takabayashi T, Sasaki H, Sasamoto K, Shintaku Y, Li ZJ, et al. 1987. Prenatal diagnosis of partial trisomy 22 derived from a maternal t(11;22)(q23;q11). Tohoku Journal of Experimental Medicine 153:389–393.
  • Taddei E, Sartori E, Raio Bulgheroni L, Papadia A. 2020. Early detection of Emanuel syndrome: a case report. Case Reports in Perinatal Medicine 10:20200049.
  • Walfisch A, Mills KE, Chodirker BN, Berger H. 2012. Prenatal screening characteristics in Emanuel syndrome: a case series and review of the literature. Archives of Gynecology and Obstetrics 286:299–302.
  • Zackai EH, Emanuel BS. 1980. Site-specific reciprocal translocation, t(11;22)(q23;q11), in several unrelated families with 3:1 meiotic disjunction. American Journal of Medical Genetics 7:507–521.

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