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1.
Ultrasound Obstet Gynecol ; 63(2): 214-221, 2024 02.
Article in English | MEDLINE | ID: mdl-37519145

ABSTRACT

OBJECTIVES: To ascertain whether abnormalities in neonatal head circumference and/or body weight are associated with levels of angiogenic/antiangiogenic factors in the maternal and cord blood of pregnancies with a congenital heart defect (CHD) and to assess whether the specific type of CHD influences this association. METHODS: This was a multicenter case-control study of women carrying a fetus with major CHD. Recruitment was carried out between June 2010 and July 2018 at four tertiary care hospitals in Spain. Maternal venous blood was drawn at study inclusion and at delivery. Cord blood samples were obtained at birth when possible. Placental growth factor (PlGF), soluble fms-like tyrosine kinase-1 (sFlt-1) and soluble endoglin (sEng) were measured in maternal and cord blood. Biomarker concentrations in the maternal blood were expressed as multiples of the median (MoM). RESULTS: PlGF, sFlt-1 and sEng levels were measured in the maternal blood in 237 cases with CHD and 260 healthy controls, and in the cord blood in 150 cases and 56 controls. Compared with controls, median PlGF MoM in maternal blood was significantly lower in the CHD group (0.959 vs 1.022; P < 0.0001), while median sFlt-1/PlGF ratio MoM was significantly higher (1.032 vs 0.974; P = 0.0085) and no difference was observed in sEng MoM (0.981 vs 1.011; P = 0.4673). Levels of sFlt-1 and sEng were significantly higher in cord blood obtained from fetuses with CHD compared to controls (mean ± standard error of the mean, 447 ± 51 vs 264 ± 20 pg/mL; P = 0.0470 and 8.30 ± 0.92 vs 5.69 ± 0.34 ng/mL; P = 0.0430, respectively). Concentrations of sFlt-1 and the sFlt-1/PlGF ratio in the maternal blood at study inclusion were associated negatively with birth weight and head circumference in the CHD group. The type of CHD anomaly (valvular, conotruncal or left ventricular outflow tract obstruction) did not appear to alter these findings. CONCLUSIONS: Pregnancies with fetal CHD have an antiangiogenic profile in maternal and cord blood. This imbalance is adversely associated with neonatal head circumference and birth weight. © 2023 International Society of Ultrasound in Obstetrics and Gynecology.


Subject(s)
Heart Defects, Congenital , Pre-Eclampsia , Pregnancy , Infant, Newborn , Female , Humans , Placenta Growth Factor , Birth Weight , Fetal Blood , Case-Control Studies , Biomarkers , Endoglin , Vascular Endothelial Growth Factor A , Vascular Endothelial Growth Factor Receptor-1
2.
Clin Invest Ginecol Obstet ; 48(1): 3-13, 2021.
Article in Spanish | MEDLINE | ID: mdl-32836610

ABSTRACT

During a pandemic, the three basic principles are. to prioritize medical resources, ensure patients' lockdown in order to avoid community transmission and prevent healthcare collapse, and keep the number of visits to an absolute minimum to avoid patient exposure and safeguard healthcare workers. Antenatal care must be maintained during a health crisis, regardless of the COVID-19 state of alert. Routine and specialist obstetric ultrasound scans are essential for clinical decision-making during pregnancy, as it has a direct impact on the management of mothers and fetuses and on the perinatal outcome. In an attempt to minimize in-person visits, these will be organized according to the established ultrasound schedule. Based on scientific evidence, and on existing main national and international guidelines, this document has been prepared, in which proposals and options are provided for managing pregnant women in the context of the SARS-CoV-2 pandemic. It includes how a Fetal Medicine Unit facing this health crisis should be restructured, what safety measures should be followed in the performance of obstetric scans and invasive procedures, and how ultrasound rooms, equipment and transducers should be cleaned and disinfected. These recommendations should be adapted to different units based on their resources and infrastructure.

5.
BMC Pediatr ; 19(1): 326, 2019 09 10.
Article in English | MEDLINE | ID: mdl-31506079

ABSTRACT

BACKGROUND: Congenital heart disease (CHD) is the most prevalent congenital malformation affecting 1 in 100 newborns. While advances in early diagnosis and postnatal management have increased survival in CHD children, worrying long-term outcomes, particularly neurodevelopmental disability, have emerged as a key prognostic factor in the counseling of these pregnancies. METHODS: Eligible participants are women presenting at 20 to < 37 weeks of gestation carrying a fetus with CHD. Maternal/neonatal recordings are performed at regular intervals, from the fetal period to 24 months of age, and include: placental and fetal hemodynamics, fetal brain magnetic resonance imaging (MRI), functional echocardiography, cerebral oxymetry, electroencephalography and serum neurological and cardiac biomarkers. Neurodevelopmental assessment is planned at 12 months of age using the ages and stages questionnaire (ASQ) and at 24 months of age with the Bayley-III test. Target recruitment is at least 150 cases classified in three groups according to three main severe CHD groups: transposition of great arteries (TGA), Tetralogy of Fallot (TOF) and Left Ventricular Outflow Tract Obstruction (LVOTO). DISCUSSION: The results of NEURO-HEART study will provide the most comprehensive knowledge until date of children's neurologic prognosis in CHD and will have the potential for developing future clinical decisive tools and improving preventive strategies in CHD. TRIAL REGISTRATION: NCT02996630 , on 4th December 2016 (retrospectively registered).


Subject(s)
Child Development , Clinical Trials as Topic , Heart Defects, Congenital/complications , Neurodevelopmental Disorders/etiology , Biomarkers/blood , Echocardiography , Female , Gestational Age , Heart Defects, Congenital/blood , Humans , Infant , Magnetic Resonance Imaging , Neurodevelopmental Disorders/diagnostic imaging , Outcome Assessment, Health Care , Pregnancy , Prognosis , Prospective Studies
6.
Cir Pediatr ; 31(1): 15-20, 2018 Feb 01.
Article in Spanish | MEDLINE | ID: mdl-29419953

ABSTRACT

INTRODUCTION AND OBJECTIVES: Different echographic and fetal magnetic resonance (MRI) measurements have been described in the diagnosis of associated malformations and the prognosis of congenital diaphragmatic hernia (CDH). We have reviewed our experience searching for useful isolated or combined parameters and how MRI can complement ultrasound. MATERIAL AND METHODS: We evaluated 29 fetuses with CDH. We examined ultrasonography: Lung to Head (LHR o/e) and in MRI: ipsilateral lung volume (IPV) and total expressed as percentage of observed / expected lung volume (VPT o/e) and percentage of herniated liver (PHH). We studied: survival, ECMO and associated malformations. RESULTS: LHR o/e was the measure that best predicted survival (p< 0.05). VPT o/e did not predict survival or the need of ECMO (p> 0.05). PHH ≥19% was related to the need of ECMO. IPV < 2 cc required ECMO more frequently (p< 0.018) and when it was 0 cc in all cases. No combination of MR measurements was superior to LHR o/e in prediction of survival. MRI complemented the ultrasound in 4 cases: diaphragmatic eventration diagnosed with HDC, right HDC with fluid in the sac that suggested thoracic cyst, differentiation between spleen and lung that measured together overestimated the LHR and/or suspicion of Cornelia de Lange due to facial malformations. CONCLUSIONS: Not a single or combined MRI measurement exceeds LHR o/e in survival prediction. MRI is related to prognosis and can be used to support ultrasound in making decisions. MRI occasionally provides complementary morphological information.


INTRODUCCION Y OBJETIVOS: Distintas medidas ecográficas y de resonancia magnética fetal (RM) han sido descritas en el diagnóstico de malformaciones asociadas y el pronóstico de la hernia diafragmática congénita (HDC). Hemos revisado nuestra experiencia buscando parámetros aislados o combinados útiles y cómo la RM puede complementar a la ecografía. MATERIAL Y METODOS: Evaluamos 29 fetos con HDC. Revisamos en ecografía: Lung to Head Ratio observado/esperado (LHR o/e) y en RM: volumen pulmonar ipsilateral (VPI) y total expresado como porcentaje del volumen pulmonar observado/esperado (VPT o/e) y porcentaje de hígado herniado (PHH). Estudiamos: supervivencia, oxigenación con membrana extracorpórea (ECMO) y malformaciones asociadas. RESULTADOS: El LHR o/e fue la medida que mejor predijo supervivencia (p< 0,05). El VPT o/e no predijo supervivencia ni la necesidad de ECMO (p> 0,05). El PHH ≥19% se relacionó con necesidad de ECMO. El VPI menor de 2 cc requirió ECMO más frecuentemente (p< 0,018) y cuando fue de 0 cc en todos los casos. Ninguna combinación de medidas de RM fue superior al LHR o/e en predicción de supervivencia. La RM complementó a la ecografía en 4 casos: eventración diafragmática diagnosticada como HDC, HDC derecha con líquido en el saco que sugería quiste torácico, diferenciación entre bazo y pulmón que medidos juntos sobreestimaba el LHR o/e y sospecha de síndrome de Cornelia de Lange por malformaciones faciales. CONCLUSIONES: Ninguna medida aislada o combinada de RM supera al LHR o/e en la predicción de supervivencia. La RM se relaciona con el pronóstico y puede usarse como apoyo de la ecografía en la toma de decisiones. La RM aporta ocasionalmente información morfológica complementaria.


Subject(s)
Fetal Diseases/diagnostic imaging , Hernias, Diaphragmatic, Congenital/diagnostic imaging , Magnetic Resonance Imaging/methods , Extracorporeal Membrane Oxygenation/methods , Female , Head/embryology , Humans , Lung/embryology , Lung Volume Measurements/methods , Pregnancy , Prognosis , Retrospective Studies , Ultrasonography, Prenatal
7.
Cir Pediatr ; 31(2): 76-80, 2018 Apr 20.
Article in Spanish | MEDLINE | ID: mdl-29978958

ABSTRACT

INTRODUCTION AND OBJECTIVES: The aim of this study is to identify respiratory clinic and pulmonary arterial hypertension (PAH) in congenital diaphragmatic hernia (CDH) and whether these could be predicted by prenatal measures. MATERIAL AND METHODS: We studied fetal ultrasound: Observed/expected Lung to Head Ratio (O/E LHR) and classified patients according to their outcome (group 1: O/E LHR <25%, group 2: 26-35%, group 3: 36-45%, group 4: >55%) as well as the severity of PAH (group 0: non-PAH, group 1: mild, group 2: moderate, group 3: severe) in echocardiograms at birth, 1st, 6th, 12th and 24 months of life. We also evaluated gestational age, weight, bronchodilator treatment and number of hospital admissions. RESULTS: 58 patients with CDH, 13 without prenatal diagnosis. 36 patients out of 45 had O/E LHR calculated at 22.4 ± 5.8 weeks. O/E LHR had significant association with the severity of PAH at birth and in the 1st, 6th, 12th and 24th months (p <0.05). At 6 months, only 30.4% had PAH without any association with a higher risk of hospital admission [OR 1.07 (0.11-10.1)] and only three patients (5.1%) required bronchodilator treatment. CONCLUSION: In CDH, PAH and the respiratory clinic improve over time, being uncommon the need for treatment as of the 6th month. O/E LHR predicts the presence and severity of PAH in short and long term.


INTRODUCCION Y OBJETIVOS: Nuestro objetivo es estudiar la presencia en hernia diafragmática congénita (HDC) de clínica respiratoria e hipertensión pulmonar (HTP) a largo plazo y si estas pueden predecirse prenatalmente. MATERIAL Y METODOS: Estudiamos en ecografía fetal: Lung to Head Ratio observado/esperado (LHR O/E) y clasificamos a los pacientes según su resultado (grupo 1: LHR O/E <25%, grupo 2: 26-35%, grupo 3: 36-45%, grupo 4: >55%) así como la gravedad de HTP (grupo 0: no HTP, grupo 1: leve, grupo 2: moderada, grupo 3: grave) en los ecocardiogramas al nacimiento, 1º, 6º, 12º y 24º meses de vida. Estudiamos también edad gestacional, peso, tratamiento broncodilatador y número de ingresos hospitalarios. RESULTADOS: Se identificaron 58 pacientes con HDC, 13 de ellos sin diagnóstico prenatal. De los 45 restantes, 36 tenían calculado el LHR O/E registrado a las 22,4 ± 5,8 semanas. El LHR O/E se relacionó significativamente con la gravedad de la HTP al nacimiento y en los meses 1º, 6º, 12º y 24º (p <0,05). A los 6 meses únicamente el 30,4% presentaban HTP sin que ello asociara más riesgo de ingresos hospitalarios [OR 1,07 (0,11-10,1)] y siendo solo n = 3 (5,1%) los que precisaban algún tipo de tratamiento broncodilatador. CONCLUSION: En HDC, la HTP y la clínica respiratoria mejoran con el tiempo, siendo infrecuente la necesidad de tratamiento a partir del 6º mes. El LHR O/E predice la presencia y gravedad de HTP a corto y largo plazo.


Subject(s)
Gestational Age , Hernias, Diaphragmatic, Congenital/diagnostic imaging , Hypertension, Pulmonary/diagnostic imaging , Ultrasonography, Prenatal/methods , Age Factors , Bronchodilator Agents/administration & dosage , Child, Preschool , Echocardiography , Female , Head/embryology , Hospitalization/statistics & numerical data , Humans , Hypertension, Pulmonary/physiopathology , Infant , Infant, Newborn , Lung/embryology , Pregnancy , Retrospective Studies , Severity of Illness Index , Time Factors
8.
Cir Pediatr ; 30(1): 33-38, 2017 Jan 25.
Article in Spanish | MEDLINE | ID: mdl-28585788

ABSTRACT

AIM OF THE STUDY: The hemodynamic imbalance due to placental vascular anastomoses in TTTS but also vascular changes generated after intrauterine treatment may lead to hypoxic-ischemic complications. Different intestinal complications in TTTS are reviewed in this paper. METHODS: Retrospective review of TTTS cases treated by laser coagulation (LC) from 2012-2015. Demographic data, fetal therapy, prenatal diagnosis (US, MRI) and perinatal outcome were recorded. We describe cases with intestinal complications and their postnatal management. Results are expressed by median and range. RESULTS: 29 monochorionic pregnancies with TTTS were treated (23 LC, 4 cord occlusions and 2 cord occlusions after LC). The diagnosis was made at 19 (16-26) weeks and 86% presented stage of Quintero ≥ II. In 70% of mothers survived at least one fetus with a median of 31 (24-37) weeks at birth. Four patients had intestinal complications (1 jejunal atresia, 2 ileal atresia, 1 perforated necrotizing enterocolitis), half of them had prenatal diagnosis. Postnatal resections of the affected segments and ostomies were performed. Intestinal transit was restored and there were no severe digestive sequelae after 21 (8-38) months of follow up. CONCLUSIONS: Different types of intestinal complications were associated with TTTS and LC. US and MRI enable prenatal diagnosis of these complications and this allows prompt decisions after birth.


INTRODUCCION: El desequilibrio hemodinámico secundario a la presencia de anastomosis vasculares placentarias en el STFF así como los cambios hemodinámicos generados durante y tras su tratamiento mediante fotocoagulación con láser (FC) puede dar lugar a complicaciones hipóxico-isquémicas en distintos sistemas. Revisamos nuestra experiencia en el tratamiento del STFF con FC y presentamos las complicaciones intestinales encontradas. MATERIAL Y METODOS: Estudio retrospectivo de casos tratados intraútero entre 2012 y 2015. Recogimos datos sociodemográficos, terapia fetal, pruebas diagnósticas prenatales (ecografía, RM) y resultados perinatales. Expresamos las medidas en medianas y rangos. RESULTADOS: Se procedió al tratamiento intraútero de 29 gestaciones monocoriales complicadas con STFF (23 FC, 4 oclusiones de cordón y 2 FC seguidas de oclusión). La edad gestacional en el procedimiento fue 19 (16-26) semanas y en el 86% de los casos se trataba de un estadio de Quintero ≥ II. El 70% de las madres tuvieron al menos 1 recién nacido vivo, con mediana de edad gestacional al parto de 31 (24-37) semanas. Presentaron problemas intestinales 4 pacientes (1 atresia yeyunal, 2 atresias ileales, 1 enterocolitis necrotizante con perforación), con sospecha prenatal diagnóstica en 2 de ellos. Postnatalmente se realizó resección del segmento afecto y ostomía. Actualmente se ha restablecido el tránsito intestinal en todos sin secuelas digestivas graves tras 21(8-38) meses de seguimiento. CONCLUSIONES: Hemos descrito distintos tipos de complicaciones intestinales asociadas al STFF y/o su tratamiento con FC. Es posible hacer el diagnóstico prenatal de dichas complicaciones mediante ecografía y RM. Su conocimiento pone al cirujano en alerta y es importante en la toma de decisiones postnatales.


Subject(s)
Enterocolitis, Necrotizing/etiology , Fetofetal Transfusion/therapy , Intestinal Atresia/etiology , Laser Coagulation/methods , Enterocolitis, Necrotizing/epidemiology , Enterocolitis, Necrotizing/surgery , Female , Fetal Therapies/methods , Fetofetal Transfusion/diagnostic imaging , Follow-Up Studies , Gestational Age , Humans , Infant, Newborn , Intestinal Atresia/epidemiology , Intestinal Atresia/surgery , Pregnancy , Pregnancy Outcome , Retrospective Studies , Ultrasonography, Prenatal/methods
9.
Cir Pediatr ; 30(3): 131-137, 2017 Jul 20.
Article in Spanish | MEDLINE | ID: mdl-29043689

ABSTRACT

INTRODUCTION/AIM OF THE STUDY: Gastroschisis is a congenital malformation with an easy and early prenatal diagnosis, however, it has a variable post-natal outcome. Our aim was to determine if certain ultrasound markers or early delivery were related with a worse postnatal outcome. PATIENTS AND METHODS: Retrospective study of a cohort of patients with gastroschisis diagnosed between 2005-2014, with emphasis on prenatal ultrasounds, gestational age at delivery and post-natal outcome. Oligohydramnios, peel, mesenteric edema, fixed and dilated bowel with loss of peristalsis and small wall defect were considered ultrasonographic markers associated with poor prognosis. Outcome variables included: length-of-stay, complications, nutritional and respiratory factors. Non-parametric statistical analysis were used with p < 0,05 regarded as significant. RESULTS: Clinical charts of 30 patients with gastroschisis were reviewed (17M/13F). Gestational age at diagnosis was 20 (12-31) and at delivery 36 (31-39) weeks (33% of the patients over 36+3 weeks). A 73% of the patients presented at least one ultrasonographic marker factor during follow-up. Univariate analysis showed that mesenteric edema was associated with poor outcome variables: short-bowel syndrome (p= 0,000), PN-dependence (p= 0,007) and intestinal atresia (p= 0,02). The remaining risk factors analysed, including late delivery (> 36+3 weeks) were not associated with length-of-stay, ventilatory support, digestive autonomy, complications or mortality. CONCLUSIONS: Neither the presence of ultrasonographic markers classically associated with unfavorable outcomes, nor early delivery (< 36 weeks) resulted in worse postnatal outcome. Mesenteric edema was the only alarming ultrasound marker and that may suggest the need of closer follow-up.


INTRODUCCION: La gastrosquisis es una anomalía congénita de fácil diagnóstico prenatal y pronóstico postnatal variable. Nuestro objetivo es determinar si los signos ecográficos prenatales o el momento del parto se relacionan con peor pronóstico postnatal. PACIENTES Y METODOS: Se realiza un estudio retrospectivo de la cohorte de pacientes con gastrosquisis diagnosticados entre 2005-2014, registrando las ecografías prenatales, edad gestacional al parto y evolución postnatal. Se valoraron los hallazgos ecográficos prenatales: oligohidramnios, peel, edema mesentérico, asas fijas, aperistálticas y/o dilatadas y defecto pequeño de pared. Se consideraron variables resultado: la estancia hospitalaria, complicaciones, mortalidad y factores nutricionales y respiratorios. Se utilizaron pruebas no paramétricas, considerándose significativo un valor p < 0,05. RESULTADOS: Se analizaron 30 pacientes con gastrosquisis (17V/13M). La edad gestacional al diagnóstico fue de 20 (12-31) y al parto de 36 (31-39) semanas (33% mayores de 36+3 semanas). El 73% de los pacientes presentaron al menos un signo ecográfico de mal pronóstico. El análisis univariante asoció el edema mesentérico al síndrome de intestino corto (p= 0,000), falta de autonomía digestiva (p= 0,007) y mayor incidencia de atresia (p= 0,02). El resto de los factores, incluyendo la edad gestacional > 36+3 semanas, no tuvieron repercusión negativa en términos de estancia, asistencia respiratoria, autonomía digestiva, complicaciones o mortalidad. CONCLUSIONES: Ni la presencia de signos ecográficos considerados generalmente como desfavorables ni la tendencia a acercar el parto a la semana 36ª tienen repercusiones significativas en el curso postnatal. Únicamente el edema mesentérico parece un signo alarmante que sugiere la necesidad de aumentar la frecuencia de intervenciones (ecografías, pruebas de bienestar fetal).


Subject(s)
Edema/etiology , Gastroschisis/diagnostic imaging , Ultrasonography, Prenatal/methods , Adolescent , Adult , Cohort Studies , Edema/diagnostic imaging , Female , Follow-Up Studies , Gastroschisis/physiopathology , Gestational Age , Humans , Infant, Newborn , Intestinal Atresia/epidemiology , Intestinal Atresia/etiology , Male , Mesentery/diagnostic imaging , Pregnancy , Prognosis , Retrospective Studies , Risk Factors , Short Bowel Syndrome/epidemiology , Short Bowel Syndrome/etiology , Young Adult
10.
BJOG ; 123(12): 1990-1999, 2016 Nov.
Article in English | MEDLINE | ID: mdl-27028759

ABSTRACT

OBJECTIVE: To evaluate whether maintenance treatment with vaginal progesterone after an arrested preterm labour reduces the incidence of preterm delivery. DESIGN: Multicentre, randomised, double-blind, placebo-controlled trial. SETTING: Twelve tertiary care centres in Spain. POPULATION: A total of 265 women with singleton pregnancy, preterm labour successfully arrested with tocolytic treatment, and cervical length of <25 mm. METHODS: Randomisation was stratified by gestational age (from 24.0 to <31.0 weeks of gestation and from 31.0 to <34.0 weeks of gestation) and centre. Patients were randomly assigned, in a 1 : 1 ratio, to either daily vaginal capsules of 200 mg progesterone or placebo until delivery or 36.6 weeks of gestation, whichever occurred first. MAIN OUTCOME MEASURES: Primary outcome was delivery before 34.0 and 37.0 weeks of gestation. Secondary outcomes were discharge-to-delivery time, readmissions because of preterm labour, emergency service use, and neonatal morbidity and mortality. RESULTS: From June 2008 through June 2012, 1419 women were screened: 472 met the inclusion criteria and 265 were randomised. The final analysis included 258 women: 126 in the progesterone group and 132 in the placebo group. There were no significant differences between the progesterone and placebo groups in terms of delivery at <34 weeks of gestation [9/126 (7.1%) versus 10/132 (7.6%), P = 0.91] or <37 weeks of gestation [36/126 (28.6%) versus 29/132 (22.0%), P = 0.22]. There were no differences observed between groups when considering the two strata of gestational age at inclusion. CONCLUSIONS: A maintenance treatment of 200 mg of daily vaginal progesterone capsules in women discharged home after an episode of arrested preterm labour did not significantly reduce the rate of preterm delivery. TWEETABLE ABSTRACT: Maintenance progesterone in 258 women after arrested PTL showed no benefit.


Subject(s)
Double-Blind Method , Progesterone/administration & dosage , Female , Humans , Infant, Newborn , Obstetric Labor, Premature/drug therapy , Premature Birth/drug therapy , Vagina
11.
Phys Rev Lett ; 114(15): 157701, 2015 Apr 17.
Article in English | MEDLINE | ID: mdl-25933339

ABSTRACT

We report, for the first time, about an intermediate band solar cell implemented with InAs/AlGaAs quantum dots whose photoresponse expands from 250 to ∼6000 nm. To our knowledge, this is the broadest quantum efficiency reported to date for a solar cell and demonstrates that the intermediate band solar cell is capable of producing photocurrent when illuminated with photons whose energy equals the energy of the lowest band gap. We show experimental evidence indicating that this result is in agreement with the theory of the intermediate band solar cell, according to which the generation recombination between the intermediate band and the valence band makes this photocurrent detectable.

13.
Clin Transl Oncol ; 23(6): 1179-1184, 2021 Jun.
Article in English | MEDLINE | ID: mdl-33385285

ABSTRACT

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.


Subject(s)
Fetal Diseases/genetics , Neoplasms/genetics , Female , Genetic Predisposition to Disease , Genetic Testing , Germ-Line Mutation , Humans , Infant, Newborn , Male , Retrospective Studies
14.
J Gynecol Obstet Hum Reprod ; 50(5): 102004, 2021 May.
Article in English | MEDLINE | ID: mdl-33242678

ABSTRACT

OBJECTIVE: To determine the feasibility,tolerability, and safety of the ultrasound assessment of tubal patency using foam as contrast. METHODS: This was a prospective multicenter study of 915 infertile nulliparous women scheduled for sonohysterosalpingography with foam instillation (HYFOSY) for tubal patency testing as a part of the fertility workup. Clinical and sonographic data were recorded into a web-shared database. Tubal patency, cervical catheterization, pain during the procedure and post-procedural complications were collected. Patients reported discomfort or pain experienced during the procedure with a visual analogue scale (VAS) score. RESULTS: Nine hundred fifteen women were included in the final analysis. Median age was 34 (range, 21-45) years and median body mass index was 23 (range, 16-41) kg/m2. Of 839 women, only 8(0.95 %) cases were abandoned due to impossibility of introducing the intracervical catheter. Most of the cervical os were easily cannulated with either paediatric nasogastric probes or special catheter for intrauterine insemination / sonohysterosalpingography 688/914(75.3 %). With a median instillation of 4 mL (range 1-16) of foam, both tubes were identified in 649/875 (70.9 %) patients, while unilateral patency was observed in 190/875 (20.8 %). Only 36/875 (3.9 %) of the women had bilateral tubal obstruction. The median VAS score for perception of pain during HyFoSy examination was 2 (range 0-10), and only 17 (1.9 %) of women reported severe pain (VAS ≥ 7). Pain was unrelated to tubal patency or tubal blockage. Unexpectedly, difficult cervical catheterizations that needed tenaculum, were more likely associated with mild pain during procedure [nasogastric probe group 176/289 (70.9 %) vs. insemination catheter group 166/399 (41.6 %) vs. tenaculum group 190/218(87.2 %) p < 0.001]. Finally, among 915 patients, we only noticed 3 (0.32 %) complications of the technique: two vasovagal episodes and a mild urinary infection. CONCLUSION: HYFOSY is a feasible, well-tolerated and safe technique for the evaluation of tubal patency in infertile women.


Subject(s)
Fallopian Tube Diseases/diagnostic imaging , Fallopian Tube Patency Tests/methods , Fallopian Tubes/diagnostic imaging , Ultrasonography/methods , Uterus/diagnostic imaging , Adult , Body Mass Index , Catheterization/adverse effects , Catheterization/instrumentation , Catheterization/methods , Cervix Uteri , Contrast Media , Feasibility Studies , Female , Follicular Phase , Humans , Infertility, Female , Middle Aged , Pain Measurement , Pain, Procedural/etiology , Prospective Studies , Spain , Ultrasonography/adverse effects , Vaginal Creams, Foams, and Jellies , Young Adult
15.
Ultrasound Obstet Gynecol ; 36(3): 302-7, 2010 Sep.
Article in English | MEDLINE | ID: mdl-20131331

ABSTRACT

OBJECTIVES: The main objective of this study was to determine whether fetal thymic measurements could be obtained in twins, with a secondary goal to determine whether thymic measurements from uncomplicated singleton and twin pregnancies are comparable. METHODS: The transverse diameter and perimeter of the fetal thymus were measured prospectively in 678 singleton and 56 twin pregnancies, and their relationships with gestational age were determined and compared between groups. RESULTS: Thymic measurements were possible in 757 (95.8%) of the 790 fetuses. Measurements were not possible in 19 of 678 singletons (2.8%) and in 14 of the 112 (12.5%) twins (P < 0.001). After construction of nomograms for the transverse diameter and perimeter of the fetal thymus, similar measurements were noted for singletons and twins. CONCLUSIONS: These results suggest that sonographic measurements of the thymus are feasible in twin pregnancies and that, in uncomplicated pregnancies, these measurements are similar to those noted for singletons. These findings pave the way for future studies aimed at determining the clinical utility of thymic measurements in complicated singleton and twin pregnancies.


Subject(s)
Thymus Gland/diagnostic imaging , Adult , Cross-Sectional Studies , Female , Gestational Age , Humans , Nomograms , Observer Variation , Pregnancy , Prospective Studies , Reproducibility of Results , Sensitivity and Specificity , Thymus Gland/embryology , Twins , Ultrasonography, Prenatal
16.
Ultrasound Obstet Gynecol ; 31(6): 669-75, 2008 Jun.
Article in English | MEDLINE | ID: mdl-18504780

ABSTRACT

OBJECTIVES: To assess the feasibility and impact on perinatal outcome of fetoscopic laser coagulation of placental anastomoses in monochorionic twins with selective intrauterine growth restriction (sIUGR) and intermittent absent or reversed end-diastolic flow (iAREDF) in the umbilical artery (Type III), in comparison with expectant management. METHODS: This is a descriptive study of the outcome of 18 cases of monochorionic twins with Type III sIUGR treated with laser, and 31 pregnancies managed expectantly over the same period. All newborns underwent neonatal brain ultrasound scans. Perinatal outcome and the incidence of neurological damage were compared between the two groups. RESULTS: Laser coagulation could be performed in only 88.9% (16/18) of cases owing to technical difficulties, and in 12.5% (2/16) a second procedure was required to achieve complete coagulation of the large artery-to-artery anastomosis. Mean gestational age at delivery was 31.0 (range, 26-33) weeks in the expectant management group and 32.6 (range, 23-38) weeks in the laser group (P = 0.32). Overall perinatal survival was 85.5% (53/62) and 63.9% (23/36), respectively (P = 0.02). Intrauterine demise of the smaller twin occurred in 19.4% (6/31) and 66.7% (12/18), respectively (P = 0.001), and was associated with death of the cotwin in 50% (3/6) and 0% (0/12) of these cases, respectively (P = 0.02). The prevalence of periventricular leukomalacia in the larger fetus was 4/28 (14.3%) in the expectant management group and 1/17 (5.9%) in the laser group (P = 0.63). CONCLUSIONS: Laser coagulation in sIUGR-iAREDF pregnancies is technically difficult and not always feasible. Placental dichorionization significantly increases the proportion of fetuses with intrauterine death of the growth-restricted twin, but it protects the normal twin from its cotwin's death in the event of demise of the growth-restricted twin.


Subject(s)
Chorion/abnormalities , Fetal Growth Retardation/diagnostic imaging , Placenta/diagnostic imaging , Twins, Monozygotic , Arterio-Arterial Fistula/diagnostic imaging , Arterio-Arterial Fistula/surgery , Blood Flow Velocity , Case-Control Studies , Feasibility Studies , Female , Fetal Growth Retardation/surgery , Fetoscopy , Gestational Age , Humans , Infant, Newborn , Laser Coagulation/methods , Placental Circulation , Pregnancy , Treatment Outcome , Ultrasonography , Umbilical Arteries/diagnostic imaging
17.
Eur J Obstet Gynecol Reprod Biol ; 56(3): 165-7, 1994 Sep.
Article in English | MEDLINE | ID: mdl-7821487

ABSTRACT

The aim of our study was to determine the prevalence of cocaine abuse, by means of positive urine toxicology screens or targeted questionnaire, among women in labor at our hospital. The prospective study included 1773 women who delivered consecutively in our institution. All of them underwent a standardized questionnaire including drug use and demographic data. Urine samples were obtained during labor. Urine toxicology screens for cocaine and its metabolites, opiates, and ethanol were performed by enzyme multiplied immunoassay technique. Information was coded in order to maintain anonymity. Among the 1773 women in labor we screened, the mean age was 27.8 years and the overall prevalence of a positive questionnaire for cocaine was 0.3% and a positive urine toxicology was 0.8%. Results by drug and by demographic items are analysed. There was a substantial denial of cocaine use among the toxicologically positive patients, since only 43% of them referred its use at any time during pregnancy, in conclusion, the use of illicit drugs is common among pregnant women in our institution, but cocaine does not seem to be as prevalent as it is in the USA, while in the labor room most women with a positive test do not refer the use of the drug. Urine toxicology screening increases the rate of detection of substance abuse in this population of women. These studies are necessary to target educational programs among pregnant women.


Subject(s)
Cocaine , Pregnancy , Substance-Related Disorders/epidemiology , Adult , Cocaine/urine , Female , Humans , Pregnancy/urine , Prevalence , Prospective Studies , Spain/epidemiology , Substance-Related Disorders/urine
18.
Eur J Obstet Gynecol Reprod Biol ; 62(1): 145-7, 1995 Sep.
Article in English | MEDLINE | ID: mdl-7493699

ABSTRACT

Unexpected elevation of maternal serum alpha-fetoprotein (MSAFP) in women with anti-phospholipid syndrome has already been described as a predictor of fetal death. In this report we present a case of a pregnant woman with elevated second trimester MSAFP, in which Doppler ultrasound at 28 weeks suggested very poor fetal prognosis. A cesarean section was performed, but 2 days later the infant died due to distress. The only remarkable feature at post-mortem study was the finding of four vessels in the umbilical cord. Conventional investigation of the mother led us to the diagnosis of a primary anti-phospholipid syndrome. The finding of such an association should alert clinicians to the increased risk of fetal death. Precocious Doppler ultrasound examination may be the elective non-invasive technique to monitor such high risk fetuses.


Subject(s)
Antiphospholipid Syndrome/diagnosis , Pregnancy Complications , Ultrasonography, Prenatal , Umbilical Cord/abnormalities , alpha-Fetoproteins/analysis , Adult , Amniotic Fluid/chemistry , Female , Fetal Death , Gestational Age , Humans , Maternal Age , Postpartum Period , Pregnancy , Pregnancy, High-Risk
19.
Phys Rev Lett ; 97(24): 247701, 2006 Dec 15.
Article in English | MEDLINE | ID: mdl-17280325

ABSTRACT

We present intermediate-band solar cells manufactured using quantum dot technology that show for the first time the production of photocurrent when two sub-band-gap energy photons are absorbed simultaneously. One photon produces an optical transition from the intermediate-band to the conduction band while the second pumps an electron from the valence band to the intermediate-band. The detection of this two-photon absorption process is essential to verify the principles of operation of the intermediate-band solar cell. The phenomenon is the cornerstone physical principle that ultimately allows the production of photocurrent in a solar cell by below band gap photon absorption, without degradation of its output voltage.

20.
Am J Obstet Gynecol ; 179(6 Pt 1): 1612-7, 1998 Dec.
Article in English | MEDLINE | ID: mdl-9855606

ABSTRACT

OBJECTIVE: Our purpose was to assess the ductus venosus blood flow in trisomy 21 fetuses in the first half of pregnancy and the relation of this blood flow to nuchal thickness. STUDY DESIGN: The ductus venosus blood flow has been studied in 534 consecutive fetuses between 10 and 18 weeks of gestation who were undergoing prenatal invasive diagnostic procedures. Before the sampling, the velocity during atrial contraction, the pulsatility index for veins, and the ratio of systole-end-systole to diastole were established in the Doppler waveforms and eventually correlated with the fetal karyotype. RESULTS: Ductus venosus waveforms were successfully obtained in 82% of the pregnancies. Eleven fetuses were found to have trisomy 21; the pulsatility index was abnormally increased (>95th percentile) in 73% (8/11), the ratio of systole-end-systole to diastole was abnormally increased in 45% (5/11), and the velocity during atrial contraction was decreased (<5th percentile) in 27% (3/11). CONCLUSIONS: An abnormally increased ductus venosus pulsatility index was found in a substantial proportion of early trisomy 21 fetuses, and this was apparently independent of nuchal thickening.


Subject(s)
Down Syndrome/physiopathology , Fetus/blood supply , Blood Circulation , Down Syndrome/diagnostic imaging , Down Syndrome/embryology , Female , Gestational Age , Humans , Pregnancy , Pulsatile Flow , Ultrasonography, Doppler, Color , Ultrasonography, Prenatal
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