VACTERL association (OMIM 192350) is a heterogeneous clinical condition characterized by congenital structural defects that include at least 3 of the following features: vertebral abnormalities, anal atresia, heart defects, tracheoesophageal fistula, renal malformations, and limb defects. The nonrandom occurrence of these malformations and some familial cases suggest a possible association with genetic factors such as chromosomal alterations, gene mutations, and inherited syndromes such as Fanconi anemia (FA). In this study, the clinical phenotype and its relationship with the presence of chromosomal abnormalities and FA were evaluated in 18 patients with VACTERL association. For this, a G-banded karyotype, array-comparative genomic hybridization, and chromosomal fragility test for FA were performed. All patients (10 female and 8 male) showed a broad clinical spectrum: 13 (72.2%) had vertebral abnormalities, 8 (44.4%) had anal atresia, 14 (77.8%) had heart defects, 8 (44.4%) had esophageal atresia, 10 (55.6%) had renal abnormalities, and 10 (55.6%) had limb defects. Chromosomal abnormalities and FA were ruled out. In 2 cases, the finding of microalterations, namely del(15)(q11.2) and dup(17)(q12), explained the phenotype; in 8 cases, copy number variations were classified as variants of unknown significance and as not yet described in VACTERL. These variants comprise genes related to important cellular functions and embryonic development.

Introduction: Chorioamnionitis and funisitis produce high impact maternal, fetal and neonatal repercussions; intra-amniotic infections are present in 40-70% of preterm deliveries; additionally, intrauterine infections trigger systemic inflammatory conditions in 50% of exposed fetuses. On the contrary, maternal symptoms register low sensitivity for diagnosis of intrauterine infections. Herein, we discuss the need for a new diagnostic tool that will allow for early capture of subclinical cases. Methods: Between 2020 and 2022, we included 30 patients born with (Group 1:15) or without (Group 2:15) suspected intra-amniotic infection . We compared frozen sections to final paraffin sections, we correlated conventional process to neonate clinical outcome, taking into account changes in treatment based on early diagnosis of the infection. Results: Group 1 presented the largest number of cases for preterm delivery, low birth weight, complications and total hospital stay. Furthermore, in Group 1, we found 33.3% early sepsis diagnosis, as opposed to 6.67% in Group 2; following positive pathology report, both duration of antibiotic management and length of clinical observation: it was extended over a greater length of time than expected as standard. Discussion: Research has validated the premise on which we based our study, a clear relation between chorioamnionitis and fetal death and preterm delivery, the outcome of which also results in an increase in comorbidities. Early diagnosis of infection, especially of funisitis, is clinically useful for subsequent intervention. Conclusions: The use of frozen biopsy in ascending subclinical infection can aid in reaching early chorioamniontis/funisitis diagnosis, thereby providing guidance in medical interventions. This technique has proven its performance in predicting definitive infection outcomes. However, there is still a need for further studies on how to profile patients with subclinical infections who would benefit from frozen biopsy analysis.

Resumen     La reciente aparición del nuevo virus SARS-CoV2, conocido en el mundo como COVID-19, ha generado en personal de salud gran variedad de preguntas y desafíos respecto al horizonte clínico de la entidad y su tratamiento, que no han sido resueltos hasta el momento.  Esta incertidumbre se acrecienta aún más cuando se trata de la población neonatal, en donde la evidencia es limitada. El objetivo de este artículo es presentar la evidencia existente acerca del COVID-19 en los recién nacidos, y proponer un esquema práctico de diagnóstico y tratamiento para la atención de esta población en las unidades de cuidado neonatal.

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