Performance of Massive Parallel Sequencing-Based Cell-Free DNA Testing in Compromised Pregnancies.

Background/Objectives: Non-Invasive prenatal test (NIPT) is used as a universal or contingent test after prior risk assessment. Screening is mainly performed for common trisomies (T21, T13, T18), although other chromosomal anomalies may be detected. Our objective was to study the performance of GWNIPT in the detection of chromosomal abnormalities in pregnancies in which an invasive prenatal study was performed and in early pregnancy losses, in comparison with the reference test. Method: VeriSeqTM NIPT Solution v2, a genome-wide NIPT (GWNIPT), was performed prior to invasive testing in fetal diagnostic study cases (FDS, n = 155) and in early pregnancy losses (EPL, n = 68). Results: In the FDS group, the diagnostic test (QFPCR, array and karyotype) detected anomalies in 32 pregnancies (21%), in twenty of them (61%) also detected by GWNIPT. Eleven of the twelve cases undetected by GWNIPT were balanced translocations (n = 4) or deletions/duplications <7 Mb (n = 7). In the EPL group, GWNIPT detected anomalies in 46% of cases (31/68) but comparison with reference test (QFPCR and karyotype) in products of conception (POC) was only possible in 18 cases. Concordant results between POC and GWNIPT test were obtained in 16 of the 18 cases. In EPL, with GWNIPT testing, common trisomies accounted for 25.8% of cases (8/31), rare trisomies 54.8% (17/31) and microdeletions/duplications 16.1% (5/31). Conclusions: The GWNIPT test may be useful in clinical practice in prenatal and in EPL's genetic diagnosis when the appropriate sample is not available.

Corrigendum to "Risk factors of early spontaneous preterm birth despite carrying a cervical pessary in singleton pregnancies with a short cervix: Development of a risk prediction model" [Eur J Obstet Gynecol Reprod Biol X 22 (2024) 100305].

[This corrects the article DOI: 10.1016/j.eurox.2024.100305.].

Proposal for standardized prenatal assessment of fetal open dysraphisms by the European reference network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies (ITHACA) and eUROGEN.

Open dysraphisms, that is, myelomeningocele and myeloschisis, are rare diseases associated with a risk of severe disability, including lower limb motor and sensory deficiency, sphincter deficiency, and potential intellectual deficiency. Open dysraphism is diagnosed in Europe in 93.5% of cases. In case of suspicion of fetal open dysraphism, a detailed fetal morphologic assessment is required to confirm the diagnosis and exclude associated structural anomalies, as well as genetic assessment. In case of isolated fetal open dysraphism, assessment of prognosis is based on fetal imaging including the level of the lesion, the presence or not of a sac, the presence and nature of intra cranial anomalies, and the anatomical and functional evaluation of the lower extremities. Based on these biomarkers, a personalized prognosis as well as comprehensive information about prenatal management alternatives will allow parents to decide on further management options. Standardization of prenatal assessment is essential to compare outcomes with benchmark data and make assessment of surgical innovation possible. Herein, we propose a protocol for the standardized ultrasound assessment of fetuses with isolated open dysraphism.

Risk factors of early spontaneous preterm birth despite carrying a cervical pessary in singleton pregnancies with a short cervix: Development of a risk prediction model.

Introduction: We aimed to identify the incidence and risk factors of spontaneous preterm birth in pessary carriers with singleton pregnancies and a short cervix in the mid-trimester of pregnancy. Material and Methods: Patient data were obtained from the PECEP Trial. We analyzed singleton pregnancies in pessary carriers with a short cervix (≤25 mm) between 18 and 22 gestational weeks. Demographics and obstetric history were compared to identify risk factors for spontaneous preterm birth < 34 gestational weeks. Each demographic and obstetric variable was compared between spontaneous preterm birth < 34 and ≥ 34 weeks of gestation.Regression analysis was used to identify risk factors. A risk score model was generated using the odds ratio for significant factors. The risk score model and spontaneous preterm birth risk were assessed using the receiver operating characteristic curve. Perinatal outcomes were compared by risk score. Results: Among 190 pregnant individuals, 12 (6.3%) had spontaneous preterm birth < 34 gestational weeks. In the bivariate analysis, statistically significant differences between those with and without spontaneous preterm birth were only observed for mean cervical length at diagnosis and mean cervical length after pessary placement. By multiple logistic regression analysis, maternal age (OR 0.818; 95% CI 0.69-0.97; P 0.020), cervical length at diagnosis (OR 0.560; 95% CI 0.43-0.73; P < 0.001) and smoking status (OR 7.276; 95% CI 1.02-51.80; P 0.048) remained significantly associated with spontaneous preterm birth.The ROC curve from the multiple logistic regression analysis, including cervical length, maternal age and smoking status, had an area under the curve (AUC) of 0.952 (P < 0.001). The ROC curve for the risk score model incorporating all three variables had an AUC of 0.864 (95% CI 0.77-0.96; P < 0.001). A high-risk score was predictive of spontaneous preterm birth with a sensitivity of 75%, specificity of 84%, positive predictive value of 24%, and negative predictive value of 98%.Women with a high-risk score had a significantly reduced latency to delivery and poorer neonatal outcomes than those with a low-risk score. Conclusions: Patients at a high risk for spontaneous preterm birth despite pessary therapy may be identified using cervical length at diagnosis added to maternal age and smoking status.

Cannabis exposure during pregnancy and perinatal outcomes: A cohort study.

INTRODUCTION: Cannabis potency and its use during pregnancy have increased in the last decade. The aim of this study was to investigate the impact of antenatal cannabis use on fetal growth, preterm birth and other perinatal outcomes. MATERIAL AND METHODS: A propensity score-matched analysis was performed in women with singleton pregnancies attending a tertiary care site in Barcelona. Women in the cannabis group were selected based on the results of a detection test. Primary outcomes were small for gestational age at birth (SGA), low birthweight and preterm birth. Secondary outcomes were other biometric parameters (neonatal length and head circumference), respiratory distress, admission to the neonatal intensive care unit and breastfeeding at discharge. A second propensity score-matched analysis excluding other confounders (use of other recreational drugs and discontinuation of cannabis use during pregnancy) was performed. RESULTS: Antenatal cannabis was associated with a higher odds ratio of SGA (OR 3.60, 95% CI: 1.68-7.69), low birthweight (OR 3.94, 95% CI: 2.17-7.13), preterm birth at 37 weeks (OR 2.07, 95% CI: 1.12-3.84) and 32 weeks of gestation (OR 4.13, 95% CI: 1.06-16.11), admission to the neonatal intensive care unit (OR 1.95, 95% CI: 1.03-3.71), respiratory distress (OR 2.77, 95% CI: 1.26-6.34), and lower breastfeeding rates at discharge (OR 0.10, 95% CI: 0.05-0.18). When excluding other confounders, no significant association between antenatal cannabis use and SGA was found. CONCLUSIONS: Antenatal cannabis use increases the risk of SGA, low birthweight, preterm birth and other adverse perinatal outcomes. However, when isolating the impact of cannabis use by excluding women who use other recreational drugs and those who discontinue cannabis during pregnancy, no significant association between antenatal cannabis use and SGA birth was found.

Predictors for cannabis cessation during pregnancy: a 10-year cohort study.

The aim of this study is to determine factors associated with cannabis discontinuation, to assess the impact of mental health and addiction interventions on cannabis discontinuation during pregnancy and to investigate the neonatal impact of cannabis discontinuation. This is a 10-year cohort study in a tertiary hospital in Barcelona, Spain, including women with self-reported cannabis use during pregnancy. Main outcome was cannabis discontinuation based on biological sample testing. Secondary outcomes were neonatal intensive care unit (NICU) admission, preterm birth, birth weight and bottle-feeding. When cannabis use was detected during pregnancy, 32 out of 81 (38.3%) discontinued cannabis during pregnancy vs. four out of 61 (6.6%) when detected at birth (p < .001). Multivariate binary logistic regression showed that null parity (OR: 6.95, p = .011), detection of cannabis use during pregnancy (OR: 5.35, p = .018) and early detection and referral to mental health care for counseling on cannabis cessation and interventions on the first trimester (OR: 25.46, p < .001) increased cannabis discontinuation. Risk for preterm birth <37 weeks (11.4% vs. 30.8%) and NICU admission (25.7% vs. 54.2%) were lower when discontinuation. Early detection of cannabis use during pregnancy, cessation counseling with mental health interventions, and null parity are predictors for cannabis discontinuation during pregnancy.

Modificación de conducta en paciente diabética tras educación terapéutica / Behaviour modification in a female diabetic patient after therapeutic education

Según la Organización Mundial de la Salud (OMS), el número de personas diagnosticadas de diabetes ha pasado de ser de 108 millones, en 1980, a 422 millones, en 2014, habiendo aumentado, así mismo, la prevalencia mundial en adultos, mayores de 18 años, del 4,7% en 1980, al 8,5% en 2014. La situación en España es que el 12,6% de la población tiene intolerancia a la glucosa o glucosa basal alterada, situaciones que se consideran prediabéticas. Respecto a la diabetes tipo 1, supone entre el 5 y el 1% del total de personas con diabetes y un 13,8% de los españoles mayores de 18 años tiene diabetes tipo 2. El tratamiento de la diabetes es complejo y exige una participación activa de las personas afectadas, que tienen el derecho y el deber de tomar importantes decisiones sobre sus cuidados y tratamiento. La educación para la salud es esencial en el abordaje terapéutico de las personas con diabetes, ya que mejora el control metabólico y reduce tanto las complicaciones agudas y crónicas como la hospitalización. El objetivo de este artículo es presentar el caso clínico de una paciente diagnosticada de diabetes mellitus tipo 2, que empeoró tras un periodo de incumplimiento de tratamiento. Se elabora el plan de cuidados enfermeros basado en las necesidades básicas descritas por V. Henderson y con el lenguaje taxonómico de Enfermería NANDA-NOC-NIC

According to the World Health Organization (WHO), the number of persons diagnosed with diabetes has increased from 108 million in 1980 to 422 million in 2014; at the same time, the world prevalence in adults >18-year-old has also increased from 4.7% in 1980 to 8.5% in 2014. Currently in Spain, 12.6% of the population presents intolerance to glucose or altered basal glucose levels, situations considered as pre-diabetes. Type 1 diabetes represents between 5 and 1% of all diabetics, while 13.8% of the >18-year-old Spanish population suffers Type 2 diabetes. The treatment for diabetes is complex and demands active involvement by patients, who have the right and the duty to make major decisions about their care and treatment. Health education is essential in their treatment approach, because it will improve metabolic control and reduce both the acute and chronic complications, as well as the need for hospitalization. The objective of this article is to present the case report of a female patient diagnosed with Type 2 diabetes mellitus, who worsened after a period of lack of treatment adherence. The nursing care plan was prepared on the basis of the basic needs described by V. Henderson, and with the NANDA-NOC-NIC nursing taxonomy terminology

Abordaje de un paciente oncológico y su familia / Approach for an oncology patient and her family

Caso clínico de una paciente de 49 años de edad, con oligofrenia y diagnosticada de linfoma de Hodgkin en estado avanzado. El avance de la enfermedad, junto con la situación familiar actual, ha provocado la aparición de un afrontamiento familiar comprometido. Dado que la enfermedad está en progresión se decide incluir a la paciente en el proceso de cuidados paliativos, con un nivel de complejidad media. La paciente, portadora de un catéter venoso central con reservorio subcutáneo (Port-A-Cath®), precisa extracciones sanguíneas continuas, así como transfusiones de repetición. El seguimiento es llevado a cabo tanto por el equipo de cuidados paliativos domiciliarios como por el Servicio Hospitalario de Hematología y el equipo de Atención Primaria (enfermera gestora de casos, enfermera y médico de familia). Puesto que son múltiples los profesionales implicados en este proceso, se precisa de una buena coordinación con el resto de profesionales sanitarios, con el objetivo de que la paciente reciba todos los cuidados necesarios y de que lleve una vida lo más digna posible y libre de sufrimiento

A clinical case of a 49-year-old female patient, mentally handicapped and with a diagnosis of advanced Hodgkin’s Lymphoma. The progression of the disease, together with the current situation of her family, has led to the development of compromised family coping. Given that the disease is progressing, it is decided to include the patient in the palliative care process, with an intermediate level of complexity. The patient has a central venous catheter with subcutaneous reservoir (Port-A-Cath®), requires continuous blood extractions, and also repeat transfusions. Follow-up is conducted by the Home Palliative Care Team as well as by the Hospital Haematology Department and the Primary Care team (nurse case manager, nurse, and GP). The involvement of multiple healthcare professionals in this process requires good coordination between all of them, with the objective of providing all necessary care to the patient, so that she can lead a life as dignified as possible and free of suffering

Tratamiento prenatal del mielomeningocele / Prenatal treatment of myelomeningocele

El mielomeningocele es la malformación congénita, dentro de los defectos del tubo neural, más grave compatible con la vida. El diagnóstico prenatal suele realizarse en la ecografía morfológica aunque recientemente se han descrito marcadores precoces de primer trimestre. En 2011 se publicó el estudio Management of Mielomeningocele Study (MOMS), estudio aleatorizado comparando los fetos operados prenatalmente con los operados postnatalmente. Los resultados mostraron la reducción de la necesidad de derivaciones ventrículo-peritoneales y una mejoría de la función motora con la intervención prenatal sin reportar una importante morbilidad materna. Desde hace años, en el Hospital Universitari Vall d’Hebron se está trabajando en experimentación animal, inicialmente mediante la creación de un modelo animal de mielomeningocele y posteriormente de diferentes técnicas de reparación. Esta investigación traslacional ha sido aplicada a la práctica clínica. Desde el año 2010 se ofrece un programa multidisciplinar de cirugía prenatal del mielomeningocele(AU)

Myelomeningocele is the most severe congenital malformation among neural tube defects that are compatible with life. Although prenatal diagnosis is usually performed with the 20-22nd week scan, early first trimester markers have been recently described. Management of Myelomeningocele Study (MOMS), a randomized study that compares the prenatally operated fetuses with those that were operated on post-natally, was published in 2011.The results showed a reduction in the need for peritoneal shunts and improved motor function with the prenatal intervention without reporting any significant maternal morbidity. The Hospital Universitari Vall d’Hebron has been working on animal experimentation for many years. Initially, they created an animal model of myelomeningocele, and later on developed several repair techniques. This translational research has been applied to clinical practice. Since 2010, we have offered a multidisciplinary program of prenatal myelomeningocele surgery(AU)

Procedimiento EXIT en el manejo de fetos con severo compromiso respiratorio. La perspectiva del otorrinolaringólogo pediátrico / EXIT procedure in the management of severe foetal airway obstruction. The paediatric otolaryngologist's perspective

El ex-utero intrapartum treatment (EXIT) es una técnica diseñada para permitir un parto fetal parcial a través de una cesárea y el establecimiento de una vía aérea fetal segura a través de intubación, broncoscopia o traqueotomía mientras la oxigenación fetal se mantiene a través de la circulación uteroplacentaria. La indicación más frecuente de EXIT es la obstrucción de la vía aérea fetal, habitualmente causada por una masa cervical diagnosticada prenatalmente. Presentamos 3 casos de tumoraciones de cabeza y cuello con compromiso de la vía aérea tratados mediante EXIT y con diferentes soluciones en el manejo de la vía aérea. Con la implicación de los otorrinolaringólogos pediátricos en el EXIT, aparecerán nuevas indicaciones y podrán valorarse variaciones del protocolo básico

The ex-utero intrapartum treatment (EXIT) procedure is a technique designed to allow partial foetal delivery via caesarean section with establishment of a safe foetal airway by either intubation, bronchoscopy, or tracheostomy while foetal oxygenation is maintained through utero-placental circulation. The most common indication for the EXIT procedure is the presence of foetal airway obstruction, which is usually caused by a prenatal diagnosed neck mass. We report three cases of head and neck tumours with airway obstruction treated by means of EXIT and with different solutions in the management of the airway. With the involvement of Paediatric Otolaryngologists in EXIT, new indications and select variations from the standard EXIT protocol should be considered

Catalunya, pionera en cirurgia fetal / No disponible

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