Prenatal Diagnosis of Retinoblastoma

  • Kelsey Chen
    Affiliations
    Midwestern University Arizona College of Osteopathic Medicine, 19555 59th Avenue, Glendale, AZ 85308, USA
    Search for articles by this author
  • Luis F. Goncalves
    Correspondence
    Corresponding author. Department of Radiology Phoenix Children’s Hospital, 1919 E. Thomas Road, Phoenix, AZ 85016.
    Affiliations
    Department of Radiology, Phoenix Children’s Hospital, 1919 E. Thomas Road, Phoenix, AZ 85016, USA

    Department of Child Health, University of Arizona College of Medicine, 475 N 5th Street, Phoenix, AZ 85004, USA

    Department of Radiology, University of Arizona College of Medicine, 475 N 5th Street, Phoenix, AZ 85004, USA

    Department of Radiology, Mayo Clinic, Phoenix, AZ, USA
    Search for articles by this author
  • Aparna Ramasubramanian
    Affiliations
    Department of Ophthalmology, Phoenix Children’s Hospital, 1919 E. Thomas Road, Phoenix, AZ 85016, USA

    Department of Radiology, Creighton University, Health Science Campus, St. Joseph’s Hospital & Medical Center, 350 West Thomas Road, Phoenix, AZ 85013, USA
    Search for articles by this author
      Prenatal diagnosis of retinoblastoma is possible in families at risk using a combination of genetic testing, high-resolution targeted ultrasound of the fetal globes, and fetal MRI.

      Keywords

      To read this article in full you will need to make a payment

      Purchase one-time access:

      Academic and Personal
      One-time access price info
      • For academic or personal research use, select 'Academic and Personal'
      • For corporate R&D use, select 'Corporate R&D Professionals'

      Subscribe:

      Subscribe to Advances in Ophthalmology and Optometry
      Already a print subscriber? Claim online access
      Already an online subscriber? Sign in
      Institutional Access: Sign in to ScienceDirect

      References

        • Rao R.
        • Honavar S.G.
        Retinoblastoma.
        Indian J Pediatr. 2017; 84: 937-944
        • Abramson D.H.
        • Schefler A.C.
        • Beaverson K.L.
        • et al.
        Rapid growth of retinoblastoma in a premature twin.
        Arch Ophthalmol. 2002; 120: 1232-1233
        • Shah P.K.
        • Narendran V.
        • Kalpana N.
        In vivo growth of retinoblastoma in a newborn infant.
        Indian J Ophthalmol. 2010; 58: 421-423
        • AlAli A.
        • Kletke S.
        • Gallie B.
        • et al.
        Retinoblastoma for pediatric ophthalmologists.
        Asia Pac J Ophthalmol (Phila). 2018; 7: 160-168
      1. Lohmann DR, Gallie BL. Retinoblastoma. In: Adam MP, Ardinger HH, Pagon RA, et al, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020. PMID: 20301625.

        • Staffieri S.E.
        • Mcgillivray G.
        • Elder J.E.
        • et al.
        Managing fetuses at high risk of retinoblastoma: Lesion detection on screening MRI.
        Prenat Diagn. 2015; 35: 174-178
        • Dimaras H.
        • Kimani K.
        • Dimba E.A.O.
        • et al.
        Retinoblastoma.
        Lancet. 2012; 379: 1436-1446
        • Broaddus E.
        • Topham A.
        • Singh A.D.
        Incidence of retinoblastoma in the USA: 1975-2004.
        Br J Ophthalmol. 2009; 93: 21-23
        • Rushlow D.E.
        • Mol B.M.
        • Kennett J.Y.
        • et al.
        Characterisation of retinoblastomas without RB1 mutations: genomic, gene expression, and clinical studies.
        Lancet Oncol. 2013; 14: 327-334
        • Shah A.
        • Ramasubramanian A.
        • Corson T.
        Prenatal genetics and imaging.
        in: Ramasubramanian A. Shields C.L. Retinoblastoma. Jaypee Brothers. Medical Publishers Pvt. Limited, New Delhi (India)2012: 255-260
        • Sparkes R.S.
        • Sparkes M.C.
        • Wilson M.G.
        • et al.
        Regional assignment of genes for human esterase D and retinoblastoma to chromosome band 13q14.
        Science. 1980; 208: 1042-1044
        • Soliman S.E.
        • Racher H.
        • Zhang C.
        • et al.
        Genetics and Molecular Diagnostics in Retinoblastoma—An Update.
        Asia Pac J Ophthalmol (Phila). 2017; 6: 197-207
        • Kivelä T.
        Trilateral retinoblastoma: a meta-analysis of hereditary retinoblastoma associated with primary ectopic intracranial retinoblastoma.
        J Clin Oncol. 1999; 17: 1829-1837
        • Abramson D.H.
        • Frank C.M.
        • Susman M.
        • et al.
        Presenting signs of retinoblastoma.
        J Pediatr. 1998; 132: 505-508
        • Abramson D.H.
        • Beaverson K.
        • Sangani P.
        • et al.
        Screening for retinoblastoma: presenting signs as prognosticators of patient and ocular survival.
        Pediatrics. 2003; 112: 1248-1255
        • Kleinerman R.A.
        • Tucker M.A.
        • Tarone R.E.
        • et al.
        Risk of new cancers after radiotherapy in long-term survivors of retinoblastoma: an extended follow-up.
        J Clin Oncol. 2005; 23: 2272-2279
        • Dimaras H.
        • Corson T.W.
        • Cobrinik D.
        • et al.
        Retinoblastoma.
        Nat Rev Dis Primers. 2015; 1: 15021
        • Knudson A.G.
        Mutation and cancer: statistical study of retinoblastoma.
        Proc Natl Acad Sci U S A. 1971; 68: 820-823
        • Fabian I.D.
        • Reddy A.
        • Sagoo M.S.
        Classification and staging of retinoblastoma.
        Community Eye Heal. 2018; 31: 11-13
        • Linn Murphree A.
        Intraocular retinoblastoma: the case for a new group classification.
        Ophthalmol Clin North Am. 2005; 18 (viii): 41-53
        • Shields C.L.
        • Mashayekhi A.
        • Au A.K.
        • et al.
        The international classification of retinoblastoma predicts chemoreduction success.
        Ophthalmology. 2006; 113: 2276-2280
        • Tapazoglou E.
        • Cohen J.D.
        • Schmitt C.L.
        • et al.
        Whole body hyperthermia and carboplatin: cytotoxicity for murine leukaemia and normal marrow.
        Br J Cancer. 1991; 64: 528-530
        • Shields C.L.
        • Mashayekhi A.
        • Cater J.
        • et al.
        Chemoreduction for retinoblastoma. Analysis of tumor control and risks for recurrence in 457 tumors.
        Am J Ophthalmol. 2004; 138: 329-337
        • Shields C.L.
        • Mashayekhi A.
        • Cater J.
        • et al.
        Macular retinoblastoma managed with chemoreduction: analysis of tumor control with or without adjuvant thermotherapy in 68 tumors.
        Arch Ophthalmol. 2005; 123: 765
        • Shields C.L.
        • Kaliki S.
        • Al-Dahmash S.
        • et al.
        Management of advanced retinoblastoma with intravenous chemotherapy then intra-arterial chemotherapy as alternative to enucleation.
        Retina. 2013; 33: 2103-2109
        • Gobin Y.P.
        • Dunkel I.J.
        • Marr B.P.
        • et al.
        Intra-arterial chemotherapy for the management of retinoblastoma: four-year experience.
        Arch Ophthalmol. 2011; 129: 732-737
        • Abramson D.H.
        • Dunkel I.J.
        • Brodie S.E.
        • et al.
        A phase I/II study of direct intraarterial (ophthalmic artery) chemotherapy with melphalan for intraocular retinoblastoma initial results.
        Ophthalmology. 2008; 115 (1404.e1): 1398-1404
        • Munier F.L.
        • Mosimann P.
        • Puccinelli F.
        • et al.
        First-line intra-arterial versus intravenous chemotherapy in unilateral sporadic group D retinoblastoma: evidence of better visual outcomes, ocular survival and shorter time to success with intra-arterial delivery from retrospective review of 20 years of.
        Br J Ophthalmol. 2017; 101: 1086-1093
        • Shields C.L.
        • Fulco E.M.
        • Arias J.D.
        • et al.
        Retinoblastoma frontiers with intravenous, intra-arterial, periocular, and intravitreal chemotherapy.
        Eye. 2013; 27: 253-264
        • Honavar S.G.
        • Singh A.D.
        • Shields C.L.
        • et al.
        Postenucleation adjuvant therapy in high-risk retinoblastoma.
        Arch Ophthalmol. 2002; 120: 923-931
        • Manuck T.A.
        • Rice M.M.
        • Bailit J.L.
        • et al.
        Preterm neonatal morbidity and mortality by gestational age: a contemporary cohort.
        Am J Obstet Gynecol. 2016; 215: 103.e1-14
        • Gallie B.
        Canadian guidelines for retinoblastoma care.
        Can J Ophthalmol. 2009; 44: 639-642
        • Soliman S.E.
        • Dimaras H.
        • Khetan V.
        • et al.
        Prenatal versus postnatal screening for familial retinoblastoma.
        Ophthalmology. 2016; 123: 2610-2617
        • Paquette L.B.
        • Miller D.
        • Jackson H.A.
        • et al.
        In utero detection of retinoblastoma with fetal magnetic resonance and ultrasound: initial experience.
        AJP Rep. 2012; 2: 55-62
        • Richter S.
        • Vandezande K.
        • Chen N.
        • et al.
        Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma.
        Am J Hum Genet. 2003; 72: 253-269
        • Gerrish A.
        • Bowns B.
        • Mashayamombe-Wolfgarten C.
        • et al.
        Non-invasive prenatal diagnosis of retinoblastoma inheritance by combined targeted sequencing strategies.
        J Clin Med. 2020; 9: 3517
        • Toi A.
        • Sutherland J.
        • Gallie B.
        • et al.
        Evaluation of the fetus at risk for retinoblastoma: what is the role of prenatal ultrasound?.
        Ultrasound Med Biol. 2003; 29: S137
        • Maat-Kievit J.A.
        • Oepkes D.
        • Hartwig N.G.
        • et al.
        A large retinoblastoma detected in a fetus at 21 weeks of gestation.
        Prenat Diagn. 1993; 13: 377-384
        • Salim A.
        • Wiknjosastro G.H.
        • Danukusumo D.
        • et al.
        Fetal retinoblastoma.
        J Ultrasound Med. 1998; 17: 717-720
        • Stathopoulos C.
        • Say E.A.T.
        • Shields C.L.
        Prenatal ultrasonographic detection and prenatal (prior to birth) management of hereditary retinoblastoma.
        Graefes Arch Clin Exp Ophthalmol. 2018; 256: 861-862
        • Manjandavida F.P.
        • Xia J.
        • Zhang J.
        • et al.
        In-utero ultrasonography detection of fetal retinoblastoma and neonatal selective ophthalmic artery chemotherapy.
        Indian J Ophthalmol. 2019; 67: 958-960
        • Goncalves L.F.
        • Ramasubramanian A.
        • Grebe T.
        • et al.
        Prenatal diagnosis of bilateral retinoblastomas by multimodality fetal imaging: case report and review of the literature.
        Clin Imaging. 2021; 78: 121-126
        • Elaraoud I.
        • Ch’ng S.
        • Karl D.
        • et al.
        Management of retinal detachment in retinoblastoma with globe conserving treatment.
        J Curr Ophthalmol. 2018; 31: 43-48
        • Abramson D.H.
        Chemosurgery for retinoblastoma: what we know after 5 years.
        Arch Ophthalmol. 2011; 129: 1492-1494
        • Ondeck C.L.
        • Pretorius D.
        • McCaulley J.
        • et al.
        Ultrasonographic prenatal imaging of fetal ocular and orbital abnormalities.
        Surv Ophthalmol. 2018; 63: 745-753
        • Dyson N.J.
        RB1: a prototype tumor suppressor and an enigma.
        Genes Dev. 2016; 30: 1492-1502
        • Furdova A.
        • Sekac J.
        Secondary Malignancies in Adulthood and after Retinoblastoma Treatment in Childhood.
        in: Retinoblastoma - past, present and future. IntechOpen, 2019
        • Kleinerman R.A.
        • Yu C.
        • Little M.P.
        • et al.
        Variation of second cancer risk by family history of retinoblastoma among long-term survivors.
        J Clin Oncol. 2012; 30: 950-957
        • Temming P.
        • Viehmann A.
        • Arendt M.
        • et al.
        Pediatric second primary malignancies after retinoblastoma treatment.
        Pediatr Blood Cancer. 2015; 62: 1799-1804
        • Yousef Y.A.
        • Soliman S.E.
        • Astudillo P.P.P.
        • et al.
        Intra-arterial Chemotherapy for Retinoblastoma: A Systematic Review.
        JAMA Ophthalmol. 2016; 134: 584-591
        • Francis J.H.
        • Brodie S.E.
        • Marr B.
        • et al.
        Efficacy and toxicity of intravitreous chemotherapy for retinoblastoma: four-year experience.
        Ophthalmology. 2017; 124: 488-495
        • Shields C.L.
        • Meadows A.T.
        • Shields J.A.
        • et al.
        Chemoreduction for retinoblastoma may prevent intracranial neuroblastic malignancy (trilateral retinoblastoma).
        Arch Ophthalmol. 2001; 119: 1269-1272
        • Jain M.
        • Rojanaporn D.
        • Chawla B.
        • et al.
        Retinoblastoma in Asia.
        Eye (Lond). 2019; 33: 87-96