Fetal-maternal surgery for spina bifida in a HIV-infected mother

INTRODUCTION: In select cases, in utero surgery for MMC leads to better outcomes than postnatal repair. However, maternal HIV infection constitutes a formal exclusion criterion due to the potential of vertical HIV transmission. Encouraged by a previous case of a successful fetal spina bifida repair in a Hepatitis Bs antigen positive woman, a plan was devised allowing for fetal surgery. CASE REPORT: In utero MMC repair was performed although the mother was HIV-infected. To minimize the risk of in utero HIV transmission, the mother was treated by HAART throughout gestation as well as intravenous zidovudine administration during maternal-fetal surgery. The mother tolerated all procedures very well without any sequelae. The currently 20 month-old toddler, is HIV negative and has significantly benefitted from fetal surgery. DISCUSSION/CONCLUSION: This case shows that maternal HIV is not a priori a diagnosis that excludes fetal surgery. Rather, it might be a surrogate for moving towards personalized medicine and away from applying too rigorous exclusion criteria in the selection of candidates for maternal-fetal surgery.

Comparison of prenatal central nervous system abnormalities with postmortem findings in fetuses following termination of pregnancy and clinical utility of postmortem examination

Objectives In this study, we aimed to compare prenatal ultrasound (USG) and postmortem examination findings of central nervous system (CNS) abnormalities in fetuses following termination of pregnancy (TOP). Methods A total of 190 fetuses with USG-confirmed fetal CNS abnormalities of terminated pregnancies between January 2001 and January 2017 were retrospectively analyzed and USG and postmortem examination findings were compared. Results The most frequent CNS abnormalities were acrania/anencephaly (n=45, 24%), spina bifida (n=43, 23%), and ventriculomegaly (n=35, 18%). In 144 of the 190 (76%) cases, there was total agreement between USG and postmortem examination diagnosis. Postmortem examination provided minor findings which did not change the major clinical diagnosis in two (1%) cases with spina bifida and ventriculomegaly. In six (3%) cases, the diagnosis changed after postmortem examination. In 25 of the 190 (13%) cases with multiple abnormalities as evidenced by USG, CNS abnormality was unable to be confirmed at postmortem examination. Conclusions Our study results show an overall high agreement (76%) between USG and postmortem examination findings for CNS malformations. Due to autolysis and fluid structure, USG-confirmed CNS diagnosis cannot be always confirmed by postmortem examination. This potential discrepancy should be explained to patients before considering TOP. Postmortem examination is the gold standard to confirm prenatal diagnosis.

Fatores Maternos associados à ocorrência de Mielomeningocele: Uma Revisão Bibliográfica / Maternal Factors Associated with the Occurrence of Myelomeningocele: A Literature Review

Resumo- A mielomeningocele configura um defeito primário do tubo neural mais comum, tal defeito constitui uma das malformações congênitas mais graves do recém-nascido, uma vez que o sistema nervoso central tem início em um tubo que se desenvolve nas estruturas mais complexas do corpo humano. O defeito pode ocorrer na sua porção cranial, resultando em malformações como anencefalia e encefalocele ou na porção caudal resultando em malformações que em grupo são conhecidas como espinha bífida. A mielomeningocele é classificada como espinha bífida aberta e ocorre nas primeiras quatro semanas de gestação. O objetivo deste estudo foi identificar na literatura fatores maternos associados ao aparecimento da mielomeningocele. A coleta de dados foi realizada em outubro a novembro de 2021, nas bases de dados SciELO, Google acadêmico e BVS – Brasil utilizando as palavras chaves: “mielomeningocele”, “malformação tubo neural” e “fatores maternos”, sendo necessária também a pesquisa em livros específicos, constituindo uma amostra de 13 publicações. A deficiência de ácido fólico destacou-se como principal fator materno associado à ocorrência da mielomeningocele; além da ingestão materna de anticonvulsivantes, ingestão de fármacos antagonistas do ácido fólico, doenças como o diabetes e a obesidade, deficiência de zinco, baixas condições socioeconômicas e influências perturbadoras como a irradiação e a hipertermia materna. Conclui-se que medidas públicas no combate aos fatores maternos preveníveis são necessárias, uma vez que a mielomeningocele é uma patologia limitante, complexa, com impacto na qualidade de vida dos pacientes e de seus familiares além de requerer equipe especializada e multidisciplinar.Palavras-Chave: Mielomeningocele; Malformações; Espinha bífida. Abstract- Myelomeningocele is a primary defect of the most common neural tube, this defect is one of the most serious congenital malformations in newborns, since the central nervous system starts in a tube that develops in the most complex structures of the human body. The defect can occur in its cranial portion, resulting in malformations such as anencephaly and encephalocele, or in the caudal portion, resulting in malformations that, in group, are known as spina bifida. Myelomeningocele is classified as open spina bifida and occurs within the first four weeks of pregnancy. The aim of this study was to identify maternal factors associated with the onset of myelomeningocele in the literature. Data collection was carried out from October to November 2021, in the SciELO, Google Academic and BVS – Brazil databases using the keywords: “myelomeningocele”, “neural tube malformation” and “maternal factors”, also requiring the research in specific books, constituting a sample of 13 publications. Folic acid deficiency stood out as the main maternal factor associated with the occurrence of myelomeningocele; in addition to maternal intake of anticonvulsants, intake of drugs that are antagonists to folic acid, diseases such as diabetes and obesity, zinc deficiency, low socioeconomic conditions and disturbing influences such as radiation and maternal hyperthermia. It is concluded that public measures to combat preventable maternal factors are necessary, since myelomeningocele is a limiting and complex pathology, with an impact on the quality of life of patients and their families, in addition to requiring a specialized and multidisciplinary team.Keywords: Myelomeningocele. Malformations. Spina bifida.