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Open iniencephaly

MedGen UID:
608900
•Concept ID:
C0431285
•
Congenital Abnormality
Synonyms: Iniencephalus apertus; Iniencephaly - open; open iniencephaly
SNOMED CT: Iniencephaly - open (203928008); Iniencephalus apertus (203928008)
Modes of inheritance:
Non-Mendelian inheritance
MedGen UID:
109109
•Concept ID:
C0600599
•
Genetic Function
Source: Orphanet
A mode of inheritance that depends on genetic determinants in more than one gene.
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Non-Mendelian inheritance (Orphanet)
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0017060
Orphanet: ORPHA268363

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOpen iniencephaly
Follow this link to review classifications for Open iniencephaly in Orphanet.

Professional guidelines

PubMed

Update on prenatal diagnosis and fetal surgery for myelomeningocele.
Meller C, Covini D, Aiello H, Izbizky G, Portillo Medina S, Otaño L
Arch Argent Pediatr 2021 Jun;119(3):e215-e228. doi: 10.5546/aap.2021.eng.e215. PMID: 34033426
Ultrasound and magnetic resonance imaging in the prenatal diagnosis of open spina bifida.
Micu R, Chicea AL, Bratu DG, Nita P, Nemeti G, Chicea R
Med Ultrason 2018 May 2;20(2):221-227. doi: 10.11152/mu-1325. PMID: 29730690
Prenatal diagnosis of spinal dysraphism.
Ben-Sira L, Garel C, Malinger G, Constantini S
Childs Nerv Syst 2013 Sep;29(9):1541-52. Epub 2013 Sep 7 doi: 10.1007/s00381-013-2178-5. PMID: 24013324

Recent clinical studies

Etiology

Update on prenatal diagnosis and fetal surgery for myelomeningocele.
Meller C, Covini D, Aiello H, Izbizky G, Portillo Medina S, Otaño L
Arch Argent Pediatr 2021 Jun;119(3):e215-e228. doi: 10.5546/aap.2021.eng.e215. PMID: 34033426
Closing in on Mechanisms of Open Neural Tube Defects.
Lee S, Gleeson JG
Trends Neurosci 2020 Jul;43(7):519-532. Epub 2020 May 15 doi: 10.1016/j.tins.2020.04.009. PMID: 32423763Free PMC Article
Overview on neural tube defects: From development to physical characteristics.
Avagliano L, Massa V, George TM, Qureshy S, Bulfamante GP, Finnell RH
Birth Defects Res 2019 Nov 15;111(19):1455-1467. Epub 2018 Nov 12 doi: 10.1002/bdr2.1380. PMID: 30421543Free PMC Article
Spina bifida.
Copp AJ, Adzick NS, Chitty LS, Fletcher JM, Holmbeck GN, Shaw GM
Nat Rev Dis Primers 2015 Apr 30;1:15007. doi: 10.1038/nrdp.2015.7. PMID: 27189655Free PMC Article
Neural tube defects: recent advances, unsolved questions, and controversies.
Copp AJ, Stanier P, Greene ND
Lancet Neurol 2013 Aug;12(8):799-810. Epub 2013 Jun 19 doi: 10.1016/S1474-4422(13)70110-8. PMID: 23790957Free PMC Article

Diagnosis

Update on prenatal diagnosis and fetal surgery for myelomeningocele.
Meller C, Covini D, Aiello H, Izbizky G, Portillo Medina S, Otaño L
Arch Argent Pediatr 2021 Jun;119(3):e215-e228. doi: 10.5546/aap.2021.eng.e215. PMID: 34033426
Overview on neural tube defects: From development to physical characteristics.
Avagliano L, Massa V, George TM, Qureshy S, Bulfamante GP, Finnell RH
Birth Defects Res 2019 Nov 15;111(19):1455-1467. Epub 2018 Nov 12 doi: 10.1002/bdr2.1380. PMID: 30421543Free PMC Article
Fetal surgery: a critical review.
Kitagawa H, Pringle KC
Pediatr Surg Int 2017 Apr;33(4):421-433. Epub 2017 Jan 5 doi: 10.1007/s00383-016-4044-5. PMID: 28058487
Spina bifida.
Copp AJ, Adzick NS, Chitty LS, Fletcher JM, Holmbeck GN, Shaw GM
Nat Rev Dis Primers 2015 Apr 30;1:15007. doi: 10.1038/nrdp.2015.7. PMID: 27189655Free PMC Article
Spinal cord malformations.
Zerah M, Kulkarni AV
Handb Clin Neurol 2013;112:975-91. doi: 10.1016/B978-0-444-52910-7.00018-0. PMID: 23622306

Therapy

Experience of 300 cases of prenatal fetoscopic open spina bifida repair: report of the International Fetoscopic Neural Tube Defect Repair Consortium.
Sanz Cortes M, Chmait RH, Lapa DA, Belfort MA, Carreras E, Miller JL, Brawura Biskupski Samaha R, Sepulveda Gonzalez G, Gielchinsky Y, Yamamoto M, Persico N, Santorum M, Otaño L, Nicolaou E, Yinon Y, Faig-Leite F, Brandt R, Whitehead W, Maiz N, Baschat A, Kosinski P, Nieto-Sanjuanero A, Chu J, Kershenovich A, Nicolaides KH
Am J Obstet Gynecol 2021 Dec;225(6):678.e1-678.e11. Epub 2021 Jun 3 doi: 10.1016/j.ajog.2021.05.044. PMID: 34089698
Fetal surgery and stem cell therapy for meningomyelocele.
Hii LY, Sung CA, Shaw SW
Curr Opin Obstet Gynecol 2020 Apr;32(2):147-151. doi: 10.1097/GCO.0000000000000614. PMID: 32004173
Endoscopic fetal surgery for neural tube defects.
Lapa DA
Best Pract Res Clin Obstet Gynaecol 2019 Jul;58:133-141. Epub 2019 Jun 29 doi: 10.1016/j.bpobgyn.2019.05.001. PMID: 31350160
Spina bifida.
Copp AJ, Adzick NS, Chitty LS, Fletcher JM, Holmbeck GN, Shaw GM
Nat Rev Dis Primers 2015 Apr 30;1:15007. doi: 10.1038/nrdp.2015.7. PMID: 27189655Free PMC Article
Neural tube defects: recent advances, unsolved questions, and controversies.
Copp AJ, Stanier P, Greene ND
Lancet Neurol 2013 Aug;12(8):799-810. Epub 2013 Jun 19 doi: 10.1016/S1474-4422(13)70110-8. PMID: 23790957Free PMC Article

Prognosis

Experience of 300 cases of prenatal fetoscopic open spina bifida repair: report of the International Fetoscopic Neural Tube Defect Repair Consortium.
Sanz Cortes M, Chmait RH, Lapa DA, Belfort MA, Carreras E, Miller JL, Brawura Biskupski Samaha R, Sepulveda Gonzalez G, Gielchinsky Y, Yamamoto M, Persico N, Santorum M, Otaño L, Nicolaou E, Yinon Y, Faig-Leite F, Brandt R, Whitehead W, Maiz N, Baschat A, Kosinski P, Nieto-Sanjuanero A, Chu J, Kershenovich A, Nicolaides KH
Am J Obstet Gynecol 2021 Dec;225(6):678.e1-678.e11. Epub 2021 Jun 3 doi: 10.1016/j.ajog.2021.05.044. PMID: 34089698
Fetoscopic spina bifida repair.
Miller JL, Groves ML, Baschat AA
Minerva Ginecol 2019 Apr;71(2):163-170. Epub 2018 Nov 27 doi: 10.23736/S0026-4784.18.04355-1. PMID: 30486637
Overview on neural tube defects: From development to physical characteristics.
Avagliano L, Massa V, George TM, Qureshy S, Bulfamante GP, Finnell RH
Birth Defects Res 2019 Nov 15;111(19):1455-1467. Epub 2018 Nov 12 doi: 10.1002/bdr2.1380. PMID: 30421543Free PMC Article
Fetal surgery: a critical review.
Kitagawa H, Pringle KC
Pediatr Surg Int 2017 Apr;33(4):421-433. Epub 2017 Jan 5 doi: 10.1007/s00383-016-4044-5. PMID: 28058487
Open myelomeningocele.
Hahn YS
Neurosurg Clin N Am 1995 Apr;6(2):231-41. PMID: 7620350

Clinical prediction guides

Experience of 300 cases of prenatal fetoscopic open spina bifida repair: report of the International Fetoscopic Neural Tube Defect Repair Consortium.
Sanz Cortes M, Chmait RH, Lapa DA, Belfort MA, Carreras E, Miller JL, Brawura Biskupski Samaha R, Sepulveda Gonzalez G, Gielchinsky Y, Yamamoto M, Persico N, Santorum M, Otaño L, Nicolaou E, Yinon Y, Faig-Leite F, Brandt R, Whitehead W, Maiz N, Baschat A, Kosinski P, Nieto-Sanjuanero A, Chu J, Kershenovich A, Nicolaides KH
Am J Obstet Gynecol 2021 Dec;225(6):678.e1-678.e11. Epub 2021 Jun 3 doi: 10.1016/j.ajog.2021.05.044. PMID: 34089698
Closing in on Mechanisms of Open Neural Tube Defects.
Lee S, Gleeson JG
Trends Neurosci 2020 Jul;43(7):519-532. Epub 2020 May 15 doi: 10.1016/j.tins.2020.04.009. PMID: 32423763Free PMC Article
Learning curves of open and endoscopic fetal spina bifida closure: systematic review and meta-analysis.
Joyeux L, De Bie F, Danzer E, Russo FM, Javaux A, Peralta CFA, De Salles AAF, Pastuszka A, Olejek A, Van Mieghem T, De Coppi P, Moldenhauer J, Whitehead WE, Belfort MA, Lapa DA, Acacio GL, Devlieger R, Hirose S, Farmer DL, Van Calenbergh F, Adzick NS, Johnson MP, Deprest J
Ultrasound Obstet Gynecol 2020 Jun;55(6):730-739. doi: 10.1002/uog.20389. PMID: 31273862
Fetal surgery for spina bifida.
Dewan MC, Wellons JC
J Neurosurg Pediatr 2019 Aug 1;24(2):105-114. doi: 10.3171/2019.4.PEDS18383. PMID: 31370010
Fetal surgery: a critical review.
Kitagawa H, Pringle KC
Pediatr Surg Int 2017 Apr;33(4):421-433. Epub 2017 Jan 5 doi: 10.1007/s00383-016-4044-5. PMID: 28058487

Recent systematic reviews

Birth prevalence and risk factors of neural tube defects in Ethiopia: a systematic review and meta-analysis.
Tesfay N, Hailu G, Habtetsion M, Woldeyohannes F
BMJ Open 2023 Nov 7;13(11):e077685. doi: 10.1136/bmjopen-2023-077685. PMID: 37940152Free PMC Article
Vitamin D Supplementation and Vitamin D Status during Pregnancy and the Risk of Congenital Anomalies-A Systematic Review and Meta-Analysis.
Walker KC, Thorsteinsdottir F, Christesen HT, Hjortdal VE, Heitmann BL, Specht IO, Händel MN
Nutrients 2023 Apr 28;15(9) doi: 10.3390/nu15092125. PMID: 37432271Free PMC Article
Prenatal predictors of need for cerebrospinal fluid diversion in infants following prenatal repair of open spina bifida; systematic review and meta-analysis.
Mustafa HJ, Arab K, Javinani A, Garg S, Nawab S, Habli M, Khalil A
Am J Obstet Gynecol MFM 2023 Aug;5(8):100983. Epub 2023 Apr 24 doi: 10.1016/j.ajogmf.2023.100983. PMID: 37098391
Learning curves of open and endoscopic fetal spina bifida closure: systematic review and meta-analysis.
Joyeux L, De Bie F, Danzer E, Russo FM, Javaux A, Peralta CFA, De Salles AAF, Pastuszka A, Olejek A, Van Mieghem T, De Coppi P, Moldenhauer J, Whitehead WE, Belfort MA, Lapa DA, Acacio GL, Devlieger R, Hirose S, Farmer DL, Van Calenbergh F, Adzick NS, Johnson MP, Deprest J
Ultrasound Obstet Gynecol 2020 Jun;55(6):730-739. doi: 10.1002/uog.20389. PMID: 31273862
Upper and lower urinary tract outcomes in adult myelomeningocele patients: a systematic review.
Veenboer PW, Bosch JL, van Asbeck FW, de Kort LM
PLoS One 2012;7(10):e48399. Epub 2012 Oct 31 doi: 10.1371/journal.pone.0048399. PMID: 23119003Free PMC Article

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