Complicaciones obstétricas relacionadas con la terapia antirretroviral en gestantes infectadas por el VIH / Obstetric complications related to antiretroviral therapy in pregnant women with HIV infection

IntroducciónEl porcentaje de gestantes infectadas por VIH que demandan embarazo ha aumentado en los países desarrollados debido a la estabilidad de la infección y la disminución de la transmisión vertical por los tratamientos antirretrovirales (TAR) y las medidas preventivas. Sin embargo, existe poca información respecto al efecto del TAR sobre el embarazo.MétodosEstudio retrospectivo de las gestantes infectadas por VIH con TAR controladas en el Hospital La Paz entre los años 2000-2017. Se estudiaron las complicaciones maternofetales.ResultadosSe recogieron 141 gestaciones en 112 mujeres infectadas por VIH. El TAR más utilizado fue la combinación de 2 inhibidores de la transcriptasa inversa análogos nucleosídicos+1 inhibidor de la proteasa (58,1%), con diferencias significativas entre los distintos tratamientos en cuanto a la carga viral plasmática, siendo indetectable en mayor medida con 2 inhibidores de la transcriptasa inversa análogos nucleosídicos +1 inhibidor de la transcriptasa inversa no nucleosídico, segunda pauta más utilizada. Las tasas de neonatos a término de bajo peso (<2.500g) (11,3%), partos pretérmino (11,1%) y rotura prematura de membranas pretérmino (5,6%) fueron mayores que en la población general. Aunque no hubo asociación, estas complicaciones fueron más frecuentes en gestantes con un inhibidor de la proteasa/ritonavir. No se relacionaron con la carga viral plasmática. No se encontró aumento en la tasa de interrupciones gestacionales, malformaciones ni diabetes gestacional.ConclusiónEn las gestantes infectadas por VIH con TAR está aumentada la tasa de neonatos a término de bajo peso, prematuridad y rotura prematura de membranas pretérmino en comparación con la población general, relacionándose especialmente con el tratamiento con un inhibidor de la proteasa, aunque sin asociación significativa.

IntroductionThe percentage of HIV-infected pregnant women seeking pregnancy has increased in developed countries due to the stability of the infection and the decrease in vertical transmission due to antiretroviral treatment (ART) and preventive measures. However, there is little information regarding the effect of ART on pregnancy.MethodsRetrospective study of HIV-infected pregnant women on ART monitored at Hospital La Paz between 2000-2017. Maternal-foetal complications were studied.ResultsOne hundred and forty-one gestations were collected in 112 HIV-infected women. The most commonly used ART was the combination of 2 nucleoside reverse transcriptase inhibitor analogues+1 protease inhibitor (58.1%), with significant differences between the different treatments in terms of plasma viral load being undetectable to a greater extent with 2 nucleoside reverse transcriptase inhibitor analogues+1 non-nucleoside reverse transcriptase inhibitor, the second most used regimen. The rates of low birth weight (<2,500g) term neonates (11.3%), preterm delivery (11.1%) and preterm premature rupture of membranes (5.6%) were higher than in the general population. Although there was no association, these complications were more frequent in pregnant women with a protease inhibitor/ritonavir. They were not related to plasma viral load. No increase in the rate of gestational terminations, malformations or gestational diabetes was found.ConclusionHIV-infected pregnant women on ART have an increased rate of low birth weight, prematurity, and preterm premature rupture of membranes at term compared to the general population, especially related to treatment with protease inhibitor, although without significant association.

Hernia diafragmática congénita en la gestación gemelar / Congenital diaphragmatic hernia in twin gestation

La hernia diafragmática congénita (HDC) en un feto de una gestación gemelar es una situación extremadamente infrecuente y de difícil manejo. La cirugía fetal no parece una opción válida debido al alto riesgo de rotura prematura de membranas y/o parto prematuro. La interrupción fetal selectiva debe hacerse antes de la semana 22, y tampoco está exenta de riesgos. El manejo expectante se asocia a la prematuridad y a fetos de bajo peso característicos de una gestación gemelar. Por tanto, el asesoramiento a los padres por parte de un equipo multidisciplinar es crucial en la toma de decisiones. La cesárea programada a término parece ser la vía más razonable en estos casos, sobre todo si es el segundo gemelo el afecto por HDC. Se presentan 6 casos de gestaciones gemelares bicoriales con uno de los fetos afecto de HDC con diferentes manejos y evoluciones obstétricas.(AU)

Congenital diaphragmatic hernia (CDH) in a twin gestation foetus is an extremely infrequent and difficult situation to manage. Foetal surgery does not seem to be an option due to the high risk of premature rupture of membranes and/or preterm delivery. Selective foetal termination must be done before 22 weeks and is also not without risk. Expectant management is associated with prematurity and low weight foetuses characteristic of twin gestation. Therefore, parental counselling by a multidisciplinary team is crucial in decision making. Programmed caesarean section at term seems to be the most reasonable route in these cases, especially if the second twin is affected by CDH. Six cases of bicornuate twin gestations with one of the foetuses affected by CDH are presented, with different management and obstetric outcomes.(AU)

Genetic predisposition to fetal and neonatal cancer

Background Neonatal tumors represent an extremely rare and heterogeneous disease with an unknown etiology. Due to its early onset, it has been proposed that genetic factors could play a critical role; however, germline genetic analysis is not usually performed in neonatal cancer patients Patients and methods To improve the identification of cancer genetic predisposition syndromes, we retrospectively review clinical characteristics in 45 patients with confirmed tumor diagnosis before 28 days of age, and we carried out germline genetic analysis in 20 patients using next-generation sequencing and directed sequencing. Results The genetic studies did not find any germline mutation except patients diagnosed with bilateral retinoblastoma who harbored RB1 germline mutations. Conclusions Our results suggest that genetic factors have almost no higher impact in most neonatal tumors. However, since the heterogeneity of the tumors and the small sample size analyzed, we recommend complementary and centralized germline studies to discard the early onset as an additional criterion to take into account to improve the identification of cancer genetic predisposition syndromes in neonates (AU)

Genetic predisposition to fetal and neonatal cancer.

BACKGROUND: Neonatal tumors represent an extremely rare and heterogeneous disease with an unknown etiology. Due to its early onset, it has been proposed that genetic factors could play a critical role; however, germline genetic analysis is not usually performed in neonatal cancer patients PATIENTS AND METHODS: To improve the identification of cancer genetic predisposition syndromes, we retrospectively review clinical characteristics in 45 patients with confirmed tumor diagnosis before 28 days of age, and we carried out germline genetic analysis in 20 patients using next-generation sequencing and directed sequencing. RESULTS: The genetic studies did not find any germline mutation except patients diagnosed with bilateral retinoblastoma who harbored RB1 germline mutations. CONCLUSIONS: Our results suggest that genetic factors have almost no higher impact in most neonatal tumors. However, since the heterogeneity of the tumors and the small sample size analyzed, we recommend complementary and centralized germline studies to discard the early onset as an additional criterion to take into account to improve the identification of cancer genetic predisposition syndromes in neonates.

Impacto de la reanimación cardiopulmonar avanzada en recién nacidos pretérmino de extremado bajo peso / Impact of cardiopulmonary resuscitation on extremely low birth weight infants

Objetivos Examinar si los recién nacidos de extremado bajo peso (RNEBP) que reciben reanimación cardiopulmonar avanzada (RCPA) en la sala de partos presentan peor supervivencia y mayor morbilidad neurológica y global a corto plazo que aquellos que no la recibieron. Métodos En una cohorte retrospectiva de 150 RNEBP, nacidos en nuestro hospital entre los años 2000 y 2004, se comparó mortalidad y morbilidad global y neurológica a corto plazo entre aquellos que precisaron RCPA y los que no. Se excluyeron los nacidos con malformaciones y aquéllos con limitación del esfuerzo terapéutico en la sala de partos. Resultados Incluimos 150 niños, edad gestacional 23-27 semanas (25,6 ± 1,2), peso 425-995 g (745,2 ± 132). Recibieron RCPA en la sala de partos 32 (21,4 %). Las características perinatales fueron similares, excepto pH y puntuación de Apgar inferiores, y puntuaciones mayores en la escala de Score for Neonatal Acute Physiology Perinatal Extension (SNAPPE) en los niños con RCPA. La supervivencia al alta fue similar (62,5 % frente a 76,3 % en aquellos sin RCPA). Los pacientes con RCPA necesitaron más surfactante, oxígeno y presión media en la vía aérea. Neumotórax y coagulopatía fueron más frecuentes en los niños con RCPA (p < 0,01). La frecuencia de displasia broncopulmonar, enterocolitis necrosante y retinopatía fueron similares en ambos grupos. La prevalencia de hemorragia intraventricular (HIV) grado III (31,2 % frente a 17,7 %), infarto periventricular hemorrágico (IPH) (18,7 % frente a 11 %), leucomalacia periventricular (LPV) (15,6 % frente a 11 %), no difirió entre los RNEBP que precisaron RCPA y los que no. Sin embargo, el análisis combinado de morbilidad neurológica (HIV grado III y/o LPV y/o IPH) mostró diferencias significativas entre ambos grupos (46,7 % frente a 21,6 %; p = 0,01). Conclusión La RCPA en RNEBP no parece implicar un aumento de la mortalidad neonatal ni de la morbilidad significativa no neurológica. Aunque la prevalencia individual de problemas neurológicos fue similar entre ambos grupos, la RCPA conllevó un claro aumento de la morbilidad global neurológica, incrementando tres veces el riesgo de lesión del SNC

Objective To examine whether extremely low birth weight (ELBW) infants who undergo Cardiopulmonary Resuscitation (CPR) in the delivery room present poorer survival and greater short-term neurological and general morbidity than those who do not. Methods In a retrospective cohort of 150 ELBW infants born at our hospital between 2000 and 2004, those who needed CPR and those who did not were compared for mortality and short-term general and neurological morbidity. Infants with major birth defects, suspicion of genetic disease and those without a proactive perinatal attitude in the delivery room were excluded. CPR was defined as the administration of chest compressions and/or epinephrine in the delivery room. Results 150 infants were included, with gestational ages of 23-27 weeks (mean 25.6 ± 1.2), birth weight of 425-995 grams (mean 745.2 ± 132). Delivery room CPR was given to 32 infants (21.4 %). No differences in perinatal characteristics were found except for lower pH and Apgar score and a higher SNAPPE score in infants who underwent CPR. Survival at discharge was similar (62.5 % vs 76.3 % for those without CPR). Infants who received CPR needed more surfactant, oxygen and higher median airway pressure than infants who did not. Air leaks and coagulopathy were more frequent in CPR infants (p < 0.01). Prevalence of bronchopulmonary dysplasia, necrotizing enterocolitis and retinopathy was similar in the two groups. No statistical differences between ELBW infants who needed CPR and those who did not were found in prevalence of intraventricular haemorrhage (IVH) (62.5 % vs 52.5 %), IVH III (31.2 % vs 17.7 %), periventricular haemorrhagic infarction (PHI) (18.7 % vs 11 %) or cystic periventricular leucomalacia (PVL) (15.6 % vs 11 %). However, in a combined analysis of neurological morbidity (IVH III and/or PVL and/or PHI), significant differences between the two groups were found (46.7 % vs 21.6 %; p = 0.01). Conclusion This study does not support poorer survival or significant non-neurological morbidity during the neonatal period in ELBW infants who receive CPR. Although the prevalence of individual neurological problems was similar in the two groups, CPR was associated with a clear increase in general neurological morbidity, with a three-times greater risk of brain damage

[High-frequency oscillatory ventilation as salvage strategy in the newborn infant. Spanish multicenter study. I]. / Ventilación de alta frecuencia oscilatoria como estrategia de rescate en el recién nacido. Estudio multicéntrico Español. I.

OBJECTIVE: The aim of this study was to evaluate the results of high frequency ventilation (HFV) used as a rescue strategy in newborn infants with severe lung disease who either failed conventional mechanical ventilation (CMV) or had an air block. PATIENTS AND METHODS: From April 1995 to June 1998, 241 infants with severe lung disease and managed according to a common protocol of HFV used as a rescue strategy were prospectively evaluated in the nine participating level III Spanish Neonatal Intensive Care Units. The most frequent diagnoses were respiratory distress syndrome (119), meconium aspiration (24), pneumonia (19) and congenital diaphragm hernia (18). RESULTS: Mean +/- SD gestational age and birth weight were 32.0 +/- 5.5 weeks and 1,187 +/- 1,071 g, respectively. All babies were previously manages with CMV for a mean of 59 hours. HFV was started at a mean postnatal age of 82 hrs, with a mean oxygenation index (OI) of 28.3 +/- 15.3 and an a/A DO2 of 0.10 +/- 0.08. Initial mean HFV settings were: mean airway pressure 12.8 +/- 3.4 mbar, frequency 8.3 +/- 1.4 Hz, amplitude 53 +/- 20 percent, tidal volume 2.2 +/- 0.7 ml/kg and FiO2 0.88 +/- 0.2. At two hours of HFV there was a significant increase in the mean PaO2 (from 48 to 80 mmHg), with a concomitant decrease in FiO2 (from 0.88 to 0.79), PaCO2 (from 60 to 46 mmHg) and OI (from 28 to 18). Mean a/A DO2 increased from 0.10 to 0.19; these changes remained similar thereafter. HFV was suspended after a mean of 95 hrs because of improvement in 70%, death in 19% and failure to improve the clinical condition in the remaining 19%. Intrahospital death rate was 32%. The following complications were observed: pneumothorax (10%), interstitial emphysema (4%), intraventricular hemorrhage grades III and IV (14.5%) and bronchopulmonary dysplasia (35%). CONCLUSIONS: HFV is an effective rescue strategy that improves pulmonary gas exchange within two hours of its initiation.

Cardiac rhabdomyoma presenting as fetal hydrops.

Fetal hydrops and possible congenital heart disease with atrioventricular block was diagnosed one day before birth in a male infant of 35 weeks' gestation. Echocardiography and angiocardiography soon after birth revealed a cardiac tumor. The child died three days after birth. Necropsy showed tuberous sclerosis involving the heart (type-I rhabdomyoma), kidneys, retina, and central nervous system.