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  • Original Article

    Historical Clinical Outcomes of Children with Myelomeningocele Meeting the Criteria for Fetal Surgery: A Retrospective Cohort Survey of Brazilian Patients

    Rev Bras Ginecol Obstet. 2022;44(3):238-244

    Summary

    Original Article

    Historical Clinical Outcomes of Children with Myelomeningocele Meeting the Criteria for Fetal Surgery: A Retrospective Cohort Survey of Brazilian Patients

    Rev Bras Ginecol Obstet. 2022;44(3):238-244

    DOI 10.1055/s-0042-1742404

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    Abstract

    Objective

    To analyze the historical clinical outcomes of children with myelomeningocele (MMC) meeting the criteria for fetal surgery, but who underwent postnatal primary repair.

    Methods

    Data from children undergoing postnatal MMC repair between January 1995 and January 2015 were collected from the Neurosurgery Outpatient Clinic’s medical records. Children were included if they had ≥1 year of postoperative follow-up andmet the criteria for fetal surgery. The children’s data were then stratified according to whether they received a shunt or not. The primary outcome was mortality, and secondary outcomes were educational delays, hospitalization, recurrent urinary tract infections (UTIs), and renal failure.

    Results

    Over the 20-year period, 231 children with MMC were followed up. Based on clinical data recorded at the time of birth, 165 (71.4%) qualify of fetal surgery. Of the 165 patients, 136 (82.4%) underwent shunt placement. The mortality rate was 5.1% in the group with shunt and 0% in the group without, relative risk (RR) 3.28 (95% confidence interval, 95% CI, 0.19-55.9). The statistically significant RRs for adverse outcomes in the shunted group were 1.86 (95% CI, 1.01-3.44) for UTI, 30 (95% CI, 1.01-537) for renal failure, and 1.77 (95% CI, 1.09-2.87) for hospitalizations.

    Conclusion

    Children with MMC qualifying for fetal surgery who underwent shunt placement were more likely to have recurrent UTIs, develop renal failure, and be hospitalized. Since approximately half of the shunt procedures could be avoided by fetal surgery, there is a clinical benefit and a possible financial benefit to the implementation of this technology in our setting.

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    Historical Clinical Outcomes of Children with Myelomeningocele Meeting the Criteria for Fetal Surgery: A Retrospective Cohort Survey of Brazilian Patients
  • Original Article

    First-trimester Combined Screening Test for Aneuploidies in Brazilian Unselected Pregnancies: Diagnostic Performance of Fetal Medicine Foundation Algorithm

    Rev Bras Ginecol Obstet. 2018;40(7):384-389

    Summary

    Original Article

    First-trimester Combined Screening Test for Aneuploidies in Brazilian Unselected Pregnancies: Diagnostic Performance of Fetal Medicine Foundation Algorithm

    Rev Bras Ginecol Obstet. 2018;40(7):384-389

    DOI 10.1055/s-0038-1666996

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    Abstract

    Objective

    The main objective of this study was to examine the diagnostic performance of the first-trimester combined test for aneuploidies in unselected pregnancies from Rio de Janeiro and compare it with the examples available in the literature.

    Methods

    We investigated 3,639 patients submitted to aneuploidy screening from February 2009 to September 2015. The examination is composed of the Fetal Medicine Foundation risk evaluation based on nuchal translucency evaluation, mother’s age, presence of risk factors, presence of the nasal bone and Doppler of the ductus venous in addition to biochemical analysis of pregnancy-associated plasma protein A (PAPP-A) and beta-human chorionic gonadotropin (β-hCG) markers. The cut-off point for high risk for aneuploidies was defined as greater than 1:100, with intermediate risk defined between 1:100 and 1:1,000, and low risk defined as less than 1:1,000. The variable aneuploidy was considered as a result not only of trisomy of chromosome 21 but also trisomy of chromosomes 13 and 18.

    Results

    Excluding the losses, the results of 2,748 patients were analyzed. The firsttrimester combined test achieved 71.4% sensitivity with a 7.4% false-positive (FP) rate, specificity of 92.6%, positive predictive value (PPV) of 6.91% and negative predictive value (NPV) of 99.76%, when the cut-off point considered was greater than 1:1,000. Through a receiving operating characteristics (ROC) curve, the cut-off point that maximized the sensitivity and specificity for the diagnosis of aneuploidies was defined as 1:1,860. When we adjusted the false-positive (FP) rate to 5%, the detection rate for this analysis is 72.7%, with a cut-off point of 1:610.

    Conclusion

    The combined test of aneuploidy screening showed a detection rate inferior to those described in the literature for a higher FP rate.

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