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Brenda L Gallie, Sameh E. Soliman, Vikas Khetan, Elise Heon, Helen Chan; Early delivery of children with prenatal RB1 mutation identification at risk for retinoblastoma. Invest. Ophthalmol. Vis. Sci. 2016;57(12):No Pagination Specified. doi: https://doi.org/.
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© ARVO (1962-2015); The Authors (2016-present)
Familial retinoblastoma can be predicted by prenatal RB1 mutation detection. Early delivery following prenatal detection to enable treatment of the smallest tumors may achieve optimized outcomes. We performed a retrospective, observational study to compare overall outcomes and intensity of treatment for children with familial retinoblastoma diagnosed postnatal or by obstetrical ultrasound, and those diagnosed by prenatal RB1 mutation identification and delivered preterm.
For this retrospective, observational study at The Hospital for Sick Children (SickKids) all children born between 1 June 1996 and 1 June 2014 with familial retinoblastoma participated. Cohort 1 consisted of infants delivered spontaneously with postnatal RB1 testing. Cohort 2 consisted of infants identified by amniocentesis to carry the affected relative’s known RB1 mutant allele, planned for early term or late preterm delivery (36-37 weeks gestation). All children received standard treatment for eye tumors. Primary study outcome measurements were gestational age, age at first tumor, eye classification, visual outcome, treatments given, number of anesthetics, pregnancy or delivery complications and estimated treatment burden.
Of Cohort 1 eyes, 47% (8/17) of were tumor-free at birth (IIRC 0), compared to 79% (19/24) Cohort 2 eyes (P=0.03). Of Cohort 1 infants, 67% (6/9) already had vision-threatening tumors at birth. Of Cohort 2 infants, 9 were electively induced at 36-38 weeks gestation and 3 were born spontaneously preterm; 25% (3/12) had vision-threatening tumors at birth. Both Cohorts eventually developed tumors in both eyes. Acceptable vision (better than 0.1) was achieved for 78% of Cohort 1 compared to 100% of Cohort 2 (p<0.02). At first eye tumor diagnosis, 11% of Cohort 1 had both eyes Group A (smallest and least vision-threatening tumors) compared to 67% of Cohort 2 (p<0.01). Eye salvage (defined as avoidance of enucleation and external beam irradiation) was achieved in 33% of Cohort 1 compared to 97% of Cohort 2 (p<0.002). There were no complications related to preterm delivery.
Prenatal molecular diagnosis with late preterm/near-term delivery resulted in more eyes with no detectable retinoblastoma tumors at birth, and better vision outcomes with less invasive therapy. Prenatal molecular diagnosis facilitates anticipatory planning for both child and family.
This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.
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