Clinical analysis of 31 cases of fetal umbilical artery thrombosis / 中华妇产科杂志

Objective: To analyze the ultrasonic manifestations, clinical features, high risk factors and key points of pregnancy management in prenatal diagnosis of umbilical artery thrombosis (UAT). Methods: The data of 31 pregnant women of UAT diagnosed by prenatal ultrasonography and confirmed after birth from July 2017 to July 2022 at the Women's Hospital, Zhejiang University School of Medicine were retrospectively analyzed, including the maternal characteristics, pregnancy outcomes and fetal complications. In addition, the baseline data and pregnancy outcomes were compared in 21 patients who continued pregnancy after diagnosis of UAT. Of the 21 UAT cases that continued pregnancy, 10 cases were treated with low molecular weight heparin (LMWH; LMWH treatment group), while the other 11 patients had expectant treatment(expectant treatment group). Results: The age of the 31 pregnant women was (30.2±4.7) years, of which 5 cases (16%,5/31) were advanced age pregnant women. The gestational age at diagnosis was (32.9±4.0) weeks, and the gestational age at termination of pregnancy was (35.6±2.9) weeks. In 31 fetuses with UAT, 15 cases (48%) had fetal distress, 11 cases (35%) had fetal growth restriction, and 3 cases (10%) had intrauterine stillbirth. There were 28 cases of live births, including 26 cases by cesarean section and 2 cases by vaginal delivery. There were also 3 stillbirths, all delivered vaginally. Four neonates had mild asphyxia and two newborns had severe asphyxia. Among the 31 cases, 10 cases were terminated immediately after diagnosis, the gestational age at diagnosis was (35.9±2.9) weeks. Another 21 pregnancies continued, and their gestational age at diagnosis was (31.4±3.7) weeks. The median prolonged gestational age in LMWH treatment group was 7.9 weeks (4.6-9.4 weeks), and all were live births. The median prolonged gestational age in the expectant treatment group was 0.6 weeks (0.0-1.0 weeks), and 2 cases were stillbirths. There was a statistically significant difference in prolonged gestational age (P=0.002). Conclusions: Ultrasound is the preferred method for prenatal detection of UAT. Clinicians need to be vigilant for UAT when a newly identified single umbilical artery is detected by ultrasound in the second or third trimesters. The decision to continue or terminate the pregnancy depends on the gestational age and the condition of fetus. Attention should be paid to fetal movements as the pregnancy continues. The treatment of LMWH as soon as possible after diagnosis of UAT may improve the pregnancy outcome.

Clinical characteristics of cardiac defects fetuses and the impact of multi-disciplinary team cooperation approach on the pregnancy decision making / 中华妇产科杂志

Objective: To analysis the clinical characteristics of 400 fetuses with heart defects and the impactors of pregnancy decision making, and explore the influence of a multi-disciplinary team (MDT) cooperation approach on it. Methods: Clinical data of 400 fetuses with abnormal cardiac structure diagnosed at Peking University First Hospital from January 2012 to June 2021 were collected, which were divided into 4 groups according to the characteristics of fetal heart defects and the presence of extracardiac abnormalities or not: single cardiac defects without extracardiac abnormalities (122 cases), multiple cardiac defects without extracardiac abnormalities (100 cases), single cardiac defects with extracardiac abnormalities (115 cases), and multiple cardiac defects with extracardiac abnormalities (63 cases). The types of fetal cardiac structural abnormalities and genetic test results, and the detection rate of pathogenic genetic abnormalities, MDT consultation and management situation, and pregnancy decision of fetuses in each group were retrospectively analyzed. A logistics regression was used to analyze the influencing factors of fetal heart defects pregnancy decision. Results: (1) Among the 400 fetal heart defects, the four most common major types were ventricular septal defect 96 (24.0%, 96/400), tetralogy of Fallot 52 (13.0%, 52/400), coarctation of the aorta 34 (8.5%, 34/400), and atrioventricular septal defect 26 (6.5%, 26/400). (2) Among the 204 fetuses undergoing genetic examination, 44 (21.6%, 44/204) pathogenic genetic abnormalities were detected. (3) Detection rate of pathogenic genetic abnormalities (39.3%, 24/61) and pregnancy termination rate (86.1%, 99/115) in the single cardiac defects with extracardiac abnormalities group were significantly higher than those in the single cardiac defects without extracardiac abnormalities group [15.1% (8/53), 44.3% (54/122), respectively] and the multiple cardiac defects without extracardiac abnormalities group [6.1% (3/49), 70.0% (70/100), respectively, both P<0.05], and the pregnancy termination rate in the multiple cardiac defects without extracardiac abnormalities group and the multiple cardiac defects with extracardiac abnormalities group (82.5%,52/63) were significantly higher than that of the single cardiac abnormalities without extracardiac abnormalities group (both P<0.05). (4) After adjusting for age, gravity, parity and performed prenatal diagnosis, maternal age, the diagnosis of gestational age, prognosis grades, co-existence of extracardiac abnormalities, presence of pathogenic genetic abnormalities, and receiving MDT consultation and management were still independent influencing factors of termination of pregnancy of fetuses with cardiac defects (all P<0.05). A total of 29 (7.2%, 29/400) fetal cardiac defects received MDT consultation and management, and compared with those without MDT management, the pregnancy termination rate in the multiple cardiac defects without extracardiac abnormalities group [74.2%(66/89) vs 4/11] and the multiple cardiac defects with extracardiac abnormalities group [87.9%(51/58) vs 1/5] were lower, the differences were statistically significant respectively (all P<0.05). Conclusions: Maternal age, diagnosed gestational age, severity of cardiac defects, extracardiac abnormalities, pathogenic genetic abnormalities and MDT counseling and management are the influencing factors of fetal heart defects pregnancy decision. MDT cooperation approach influences pregnancy decision-making and should be recommended for the management of fetal cardiac defect to reduce unnecessary termination of pregnancy and improve pregnancy outcomes.

Analysis of typing conversion and perinatal outcomes in twins with selective intrauterine growth restriction of different subtypes / 中华妇产科杂志

Objective: To retrospectively analyze the clinical data of different types of selective intrauterine growth restriction (sIUGR) pregnant women under expectant management, including the natural evolution, typing conversion and perinatal outcomes. Methods: The clinical data of 153 pregnant women with sIUGR under expected treatment in Women's Hospital, Zhejiang University School of Medicine from January 2014 to December 2018 were collected. Maternal characteristics including maternal age, gravidity, parity, method of conception, pregnancy complication, gestational age at delivery, indication for delivery, birth weight, the rate of intrauterine and neonatal death and neonatal outcomes were recorded. Pregnant women with sIUGR were divided into three types according to end-diastolic umbilical artery flow Doppler ultrasonography, and the differences of typing conversion and perinatal outcomes of sIUGR pregnant women based on the first diagnosis were compared. Results: (1) Clinical characteristics and pregnancy outcomes: among 153 pregnant women with sIUGR, 100 cases (65.3%) were diagnosed with type Ⅰ, 35 cases (22.9%) with type Ⅱ, and 18 cases (11.8%) with type Ⅲ. There were no significant differences in age, conception mode, pregnancy complications, first diagnosis gestational age, characteristics of umbilical cord insertion, delivery indications, fetal intrauterine mortality and neonatal mortality among three types of sIUGR pregnant women (all P>0.05). The average gestational age at delivery of type Ⅰ sIUGR was (33.5±1.9) weeks, which was significantly later than those of type Ⅱ and Ⅲ [(31.3±1.8), (31.2±1.1) weeks, P<0.001]. The percentage disordance in estimated fetal weight (EFW) of type Ⅰ sIUGR was significantly lower than those of type Ⅱ and type Ⅲ (P<0.001). The incidence rate of neonatal intensive care unit (NICU) admission, cerebral leukomalacia and respiratory complications of both fetus and necrotizing enterocolitis of large fetus in type Ⅰ were significantly lower than those in type Ⅱ and type Ⅲ (all P<0.05). (2) Typing conversion: in 100 cases of type Ⅰ sIUGR, 18 cases progressed to type Ⅱ and 10 cases progressed to type Ⅲ. Compared with 72 stable type Ⅰ sIUGR, those with progressed type Ⅰ sIUGR had higher incidence of NICU admission and lung disease in both fetuses, and cerebral leukomalacia and necrotizing enterocolitis in large fetus (all P<0.05). The proportion of inconsistent cord insertion was significantly higher in those type Ⅰ progressed to type Ⅲ (6/10) than in those with stable type Ⅰ (19.4%, 14/72) and type Ⅰ progressed to type Ⅱ sIUGR [0 (0/18), P=0.001]. Four cases of type Ⅱ sIUGR reversed to type Ⅰ and 6 cases reversed to type Ⅲ. Compared with type Ⅱ reversed to type Ⅰ sIUGR, those stable type Ⅱ and type Ⅱ reversed to type Ⅲ sIUGR had a higher incidence of NICU admission in large fetus (P<0.05). Two cases of type Ⅲ sIUGR reversed to type Ⅰ and 6 cases progressed to type Ⅱ. There were no significant differences in fetal serious complications in type Ⅲ sIUGR with or without doppler changes (all P>0.05). Conclusions: The different types of sIUGR could convert to each other. The frequency of ultrasound examinations should be increased for patients with the type Ⅰ sIUGR, especially when the percentage discordance in EFW is substantial or with discordant cord insersion.

Value of chromosomal microarray analysis for the diagnosis of fetuses with anomalies of central nervous system / 中华医学遗传学杂志

OBJECTIVE@#To assess the value of chromosomal microarray analysis (CMA) for the diagnosis of fetuses with anomalies of the central nervous system (CNS) and summarize the outcome of the pregnancies and follow-up.@*METHODS@#A total of 636 fetuses from June 2014 to December 2020 who were referred to the Prenatal Diagnosis Center of Nanjing Drum Tower Hospital due to abnormal CNS prompted by ultrasound were selected as the research subjects. Based on the ultrasound findings, the fetuses were divided into ventricular dilatation group (n = 441), choroid plexus cyst group (n = 41), enlarged posterior fossa group (n = 42), holoprosencephaly group (n = 15), corpus callosum hypoplasia group (n = 22), and other anomaly group (n = 75). Meanwhile, they were also divided into isolated (n = 504) and non-isolated (n = 132) groups based on the presence of additional abnormalities. Prenatal samples (amniotic fluid/chorionic villi/umbilical cord blood) or abortus tissue were collected for the extraction of genomic DNA and CMA assay. Outcome of the pregnancies and postnatal follow-up were summarized and subjected to statistical analysis.@*RESULTS@#In total 636 fetuses with CNS anomalies (including 89 abortus tissues) were included, and 547 cases were followed up. The overall detection rate of CMA was 11.48% (73/636). The detection rates for the holoprosencephaly group, ACC group, choroid plexus cyst group, enlarged posterior fossa group, ventricular dilatation group and other anomaly group were 80% (12/15), 31.82% (7/22), 19.51% (8/41), 14.29% (6/42), 7.48% (33/441) and 9.33% (7/75), respectively. Compared with the isolated CNS anomaly group, the detection rate for the non-isolated CNS anomaly group was significantly higher (6.35% vs. 31.06%) (32/504 vs. 41/132) (χ² = 62.867, P < 0.001). Follow up showed that, for 52 fetuses with abnormal CMA results, 51 couples have opted induced labor, whilst 1 was delivered at full term with normal growth and development. Of the 434 fetuses with normal CMA results, 377 were delivered at full term (6 had developmental delay), and 57 couples had opted induced labor. The rate of adverse pregnancy outcome for non-isolated CNS abnormal fetuses was significantly higher than that of isolated CNS abnormal fetuses (26.56% vs. 10.54%) (17/64 vs. 39/370) (χ² = 12.463, P < 0.001).@*CONCLUSION@#Fetuses with CNS anomaly should be tested with CMA to determine the genetic cause. Most fetuses with negative CMA result have a good prognosis, but there is still a possibility for a abnormal neurological phenotype. Fetuses with CNS abnormalities in conjunct with other structural abnormalities are at increased risk for adverse pregnancy outcomes.

Biometry and pathological ultrasound findings in multiple pregnancies / Características ecográficas y hallazgos patológicos en embarazos múltiples

Resumo Objectives: to determine the prevalence of pathological findings according to the type of chorionicity in pregnancies in two institutions in Bogotá, Colombia. Methods: descriptive, retrospective, cohort study. Biometric variables were calculated, and pathological findings were evaluated according to the type of chorionicity in multiple pregnancies. Statistical characterization was performed with absolute frequencies, calculation of relative frequencies in qualitative variables, standard deviation measures, median and interquartile range. In addition, a descriptive analysis of the information was carried out. Results: 528 studies were carried out in 141 pregnant women, 98.5% (n = 139) twins and 1.4% (n = 2) triplets. A prevalence of 35.4% of fetal complications was calculated. The most frequent was fetal growth restriction (p=0.37). According to each type of chorionicity, fetal growth restriction was presented in 50% (1/2) of the trichorionics, 16.6% (7/42) of the monochorionics, and 11.3% (11/97) of the dichorionics. Conclusion: fetal growth restriction was the most common finding, both in trichorionics, monochorionics and dichorionics pregnancies.

Resumen Objetivos: el objetivo del estudio fue determinar la prevalencia de los hallazgos patológicos ecográficos en embarazos múltiples de acuerdo con la corionicidad en dos instituciones en Bogotá-Colombia. Métodos: estudio de cohorte, descriptivo, retrospectivo. Las variables biométricas realizadas y los hallazgos patológicos se evaluaron de acuerdo con el tipo de embarazo gemelar. Se realizó caracterización estadística con frecuencias absolutas, cálculo de frecuencias relativas en variables cualitativas, medidas de desviación estándar, mediana y rango intercuartílico. Además, se realizó análisis descriptivo de la información. Resultados: se realizaron 528 estudios en 141 gestantes, encontrando 98,5% (n=139) gemelares y 1,4% (n=2) triples. Se calculó una prevalencia de 35,4% de complicaciones fetales siendo más frecuente la restricción del crecimiento fetal (p=0,37). Según la corionicidad, esta complicación se presentó en 50% (1/2) de los tricoriónicos, 16,6% (7/42) de los monocoriónicos y 11,3% (11/97) de los dicoriónicos. Conclusión: la restricción del crecimiento fetal fue el hallazgo más común en los embarazos múltiples en la población estudiada.

Características ecográficas y anomalías congénitas en fetos con síndrome de Down / Ultrasound features and congenital anomalies in fetuses with Down syndrome

Resumen Objetivo: Describir y analizar los hallazgos ecográficos en 97 fetos portadores de síndrome de Down (SD) confirmado. Método: Se incluyeron todas las gestantes con diagnóstico prenatal de SD de nuestro centro, realizado por cariograma o reacción en cadena de la polimerasa cuantitativa fluorescente para aneuploidía. Se analizaron los informes genéticos y ecográficos, y se realizó un seguimiento posnatal. Resultados: De los 97 casos de SD, el 73% de los diagnósticos fueron entre las 11 y 14 semanas. El promedio de edad de las madres fue de 35,7 años. El 83% de los fetos con SD, evaluados a las 11-14 semanas, tuvieron una translucencia nucal ≥ 3,5 mm. Del total de los casos analizados, el 33% fueron portadores de una cardiopatía congénita, correspondiendo el 58% de estas a defectos mayores, principalmente anomalías del tabique auriculoventricular. Un 7,6% de los casos terminaron como mortinato, principalmente durante el tercer trimestre. Conclusiones: El ultrasonido es una herramienta muy sensible para la sospecha prenatal de SD y la detección de sus anomalías asociadas. Consideramos que la información aportada será útil para programar estrategias de pesquisa, organizar el control perinatal y precisar el consejo a los padres de fetos portadores de esta condición.

Abstract Objective: To describe and analyze the ultrasound findings in 97 fetuses with confirmed Down syndrome (DS). Method: All pregnant women with prenatal diagnosis of DS in our center, performed by karyotype or quantitative fluorescent polymerase chain reaction for aneuploidy, were included. Genetic and ultrasound reports were analyzed, as well as postnatal follow-up. Results: Of the 97 cases of DS, 73% of the diagnoses were between 11-14 weeks. The average age of the mothers was 35.7 years. 83% of our fetuses with DS, evaluated between 11-14 weeks, had a nuchal translucency ≥ 3.5 mm. Of the total of the fetuses analyzed, 33% were carriers of congenital heart disease, 58% of these correspond to a major defect, mainly anomalies of the atrioventricular septum. 7.6% of cases ended as stillbirth, mainly during the third trimester. Conclusions: Ultrasound is a very sensitive tool for prenatal suspicion of DS and the detection of its associated abnormalities. We believe that the information provided will be useful to program screening strategies, organize perinatal control and to counselling parents of fetuses carrying this condition.

Una mirada a la seguridad del ultrasonido en ecotomografía obstétrica / A look at the safety of ultrasound in obstetric echotomography

Resumen Los índices térmico y mecánico son estimadores de riesgo fetal en una ecografía y se deben controlar sus valores minimizando la exposición. Comparamos los valores de los índices térmico y mecánico obtenidos en exámenes ecográficos obstétricos de pacientes gestantes, con el valor recomendado por la comunidad internacional. Se realizó la estimación de estos índices en 421 ecografías obstétricas en 2019. Los valores fueron comparados entre ellos y con el valor recomendado para cada índice y según el modo de visualización (B, Doppler color y Doppler espectral). Del total de la muestra, para el índice térmico en modo Doppler color un 0,24% superó el valor estándar recomendado y en modo Doppler espectral un 2,85%. Para el índice mecánico se sobrepasó el valor recomendado en modo B en un 11,16%, en un 8,08% en modo Doppler color y, por último, en un 0,48% para el modo Doppler espectral. Los índices mecánico y térmico en esta muestra de exámenes ecográficos obstétricos se encuentran en promedio bajo el valor de referencia. Sin embargo, existe un número importante de casos en que se superan las normas, lo que debe ser una voz de alerta para la comunidad médica.

Abstract The thermal and mechanical indices are the best estimators of fetal risk in an ultrasound and their values should be controlled in order to minimize exposure as much as possible. We compared the values of the thermal and mechanical indices obtained in obstetric ultrasound examinations of pregnant patients, with the value recommended by the international community. These indices were estimated in 421 obstetric ultrasounds during 2019. The estimated values were compared with each other and with the recommended value for each index and according to the display mode (B, color Doppler and spectral Doppler). Of the total sample, for the thermal index in color Doppler mode, 0.24% exceeded the recommended standard value and 2.85%. in spectral Doppler mode. For the mechanical index, the recommended value was exceeded in B mode by 11.16%, in 8.08% in color Doppler mode and, finally, by 0.48% for spectral Doppler mode. The mechanical and thermal indices in this sample of obstetric ultrasound examinations are on average below the reference value. However, there is a significant number of cases in which the standards are exceeded, which should be a warning to the medical community.

Diagnóstico ecográfico prenatal en el Centro Municipal de Genética Médica de Marianao, La Habana / Prenatal Ultrasound Diagnosis at the Genetics Center of Marianao Municipality, Havana

Introducción: La ecografía prenatal en el Programa de Prevención de Enfermedades Genéticas permite la detección precoz de malformaciones congénitas y mejora la calidad de vida de la madre y su familia. Objetivo: Conocer la frecuencia de malformaciones congénitas diagnosticadas en el Centro de Genética de Marianao y compararla con las estadísticas nacionales e internacionales. Métodos: Estudio retrospectivo, descriptivo y observacional. Se cuantificaron 203 malformaciones diagnosticadas entre 2007 y 2017 en el Centro de Genética de Marianao. Se consideraron como variables la edad materna, la edad gestacional del diagnóstico, la frecuencia por años y los tipos de malformaciones por sistemas. Resultados: En 13 307 nacimientos se diagnosticaron 203 fetos malformados (1,52 por ciento) a una edad gestacional media de 20,15 semanas. Las malformaciones más frecuentes fueron neurológicas (27,1 por ciento) y cardiovasculares (16,2 por ciento). En las madres adolescentes predominaron las cardiovasculares (27,3 por ciento) y digestivas (16,2 por ciento en las madres añosas, las cromosómicas (57,1 por ciento). Antes de la semana 17 se diagnosticaron malformaciones digestivas (41,7 por ciento) y neurológicas (40 por ciento); entre las 18 y 21 semanas, las esqueléticas (41,2 por ciento); entre las 22 y 26 semanas, cardiovasculares (66,7 por ciento) y cromosómicas (52,4 por ciento) y, después de la semana 27, las renales (9 por ciento. Conclusión: Predominaron las malformaciones neurológicas y cardiovasculares. La edad materna media fue superior en las malformaciones cromosómicas y menor en las digestivas y cardiovasculares. En el primer marcador del programa se diagnosticó la mayoría de las malformaciones digestivas y neurológicas; y en el segundo marcador, las cardiovasculares, cromosómicas y esqueléticas(AU)

Introduction: Prenatal ultrasound in the Genetic Disease Prevention Program allows early detection of congenital malformations and improves the quality of life of the mother and her family. Objective: To know the frequency of congenital malformations diagnosed at the Genetics Center of Marianao Municipality, Havana, Cuba, and to compare it with national and international statistics. Methods: Retrospective, descriptive and observational study. A total of 203 malformations diagnosed between 2007 and 2017 at the Genetics Center of Marianao were quantified. Maternal age, gestational age at diagnosis, frequency by years and types of malformations by systems were considered as variables. Results: In 13,307 births, 203 malformed fetuses were diagnosed (1.52 percent), at a mean gestational age of 20.15 weeks. The most frequent malformations were neurological (27.1 percent) and cardiovascular (16.2 percent). Cardiovascular (27.3 percent) and digestive (16.2 percent) malformations predominated in adolescent mothers, while chromosomal malformations predominated in older mothers (57.1 percent). Before the seventeenth week, digestive (41.7 percent) and neurological (40 percent) alformations were diagnosed; between the eighteenth and twenty-first weeks, skeletal (41.2 percent) malformations were diagnosed; between the twenty-second and twenty-sixth weeks, cardiovascular (66.7 percent) and chromosomal (52.4 percent) malformations were diagnosed; and after the twenty-seventh week, renal (9 percent) malformations were diagnosed. Conclusion: Neurological and cardiovascular malformations prevailed. The mean maternal age was higher in chromosomal malformations, and lower in digestive and cardiovascular malformations. Most of the digestive and neurological malformations were diagnosed in the first marker of the Program, while cardiovascular, chromosomal and skeletal malformations were diagnosed in the second marker(AU)

Perinatal Outcomes after Fetal Endoscopic Tracheal Occlusion for Isolated Congenital Diaphragmatic Hernia: Rapid Review / Resultados perinatais após oclusão traqueal endoscópica fetal por hérnia diafragmática congênita isolada: Revisão rápida

Abstract Objective To compare the perinatal outcomes of fetuses with isolated congenital diaphragmatic hernia after fetal endoscopic tracheal occlusion (FETO) and antenatal expectant management. Data sources In this rapid review, searches were conducted in the MEDLINE, PMC, EMBASE and CENTRAL databases between August 10th and September 4th, 2020. Randomized controlled trials (RCTs), quasi-RCTs or cluster-RCTs published in English in the past ten years were included. Study selection We retrieved 203 publications; 180 studies were screened by abstract. Full-text selection was performed for eight studies, and 1 single center RCTmet the inclusion criteria (41 randomized women; 20 in the FETO group, and 21 in the control group). Data collection Data collection was performed independently, by both authors, in two steps (title and abstract and full-text reading). Data synthesis There were no cases of maternal mortality. The mean gestational age at delivery was of 35.6±2.4 weeks in the intervention group, and of 37.4±1.9 weeks among the controls (p<0.01). Survival until 6 months of age was reported in 50% of the intervention group, and in 5.8% of the controls (p<0.01; relative risk: 10.5; 95% confidence interval [95%CI]: 1.5-74.7). Severe postnatal pulmonary hypertension was found in 50% of the infants in the intervention group, and in 85.7% of controls (p=0.02; relative risk: 0.6; 95%CI: 0.4-0.9). An analysis of the study indicated some concerns of risk of bias. The quality of evidence was considered moderate to low. Conclusion Current evidence is limited but suggests that FETO may be an effective intervention to improve perinatal outcomes.

Resumo Objetivo Comparar os resultados perinatais de fetos com hérnia diafragmática congênita após oclusão traqueal endoscópica fetal (OTEF) e conduta expectante pré-natal. Fontes dos dados Nesta revisão rápida, pesquisas foram conduzidas nas bases de dados MEDLINE, PMC, EMBASE e CENTRAL entre 10 de agosto de 2020 e 4 de setembro de 2020. Ensaios clínicos randomizados (ECRs), quase-ECRs e ECRs em cluster publicados em inglês nos últimos dez anos foram incluídos. Seleção dos estudos Foram recuperadas 203 publicações; 180 destas foram triadas pelo resumo. Fez-se a leitura do texto completo de 8 estudos, e 1 ECR cumpriu os critérios de inclusão (41 mulheres aleatorizadas; 20 no grupo OTEF e 21 no grupo de controle). Coleta de dados A coleta de dados realizada independentemente pelos dois autores, em duas etapas (título e resumo, e leitura do texto completo). Síntese dos dados Não houve casos de mortematerna. A idade gestacionalmédia no parto foi de 35,6±2,4 semanas no grupo de intervenção, e de 37,4±1,9 semanas entre os controles (p<0,01). A sobrevida até 6 meses de idade foi relatada em 50% do grupo de intervenção, e em 5,8% dos controles (p<0,01; risco relativo: 10,5; intervalo de confiança de 95% [IC95%]: 1,5-74,7). Hipertensão pulmonar grave ocorreu em 50% dos lactentes do grupo de intervenção, e em 85,7% dos controles (p = 0.02; risco relativo: 0,6; IC95%: 0,4-0,9). Uma análise do estudo indicou algumas preocupações quanto ao risco de viés. A qualidade da evidência foi considerada de moderada a baixa. Conclusão As evidências atuais são limitadas,mas sugeremque a OTEF pode ser uma intervenção eficaz para melhorar resultados perinatais.

Defectos congénitos diagnosticados por ultrasonografía bidimensional / Congenital Defects Diagnosed by Bidimensional Ultrasonography

Introducción: La ecografía es la principal herramienta para el diagnóstico de los defectos congénitos, especialmente los estructurales, mediante un examen interno y externo de la anatomía fetal. Objetivo: Caracterizar el comportamiento de los defectos congénitos diagnosticados por ultrasonografía prenatal. Métodos: Se realizó un estudio descriptivo, longitudinal, en el municipio Santiago de Cuba, 2006-2017. Se excluyeron las enfermedades genéticas. La muestra estuvo conformada por 967 gestantes con diagnóstico confirmado de defectos congénitos estructurales en el feto. Se clasificaron las anomalías por sistemas y se valoró la conducta terapéutica seguida. La información se procesó de forma computarizada, los resultados fueron expresados en valores absolutos, porcentuales y mostrados en tablas. Resultados: En el periodo estudiado, 2,1 por ciento de la muestra tenía historia anterior de interrupción voluntaria electiva, la prevalencia ajustada por defectos congénitos observada fue de 10,1 por cada 1000 nacidos vivos. La edad gestacional avanzada represento el 50,9 por ciento de los casos en seguimiento; de los cuales, 6,1 por ciento terminó en óbito fetal. El porcentaje de interrupción voluntaria electiva alcanzó el 64,4 por ciento de la muestra, Los hallazgos ecográficos más frecuentes fueron: alteraciones del sistema nervioso central (23,4 por ciento), sistema genitourinario (25,2 por ciento) y cardiovascular (18,1 por ciento). Los defectos faciales fueron los menos diagnosticados (1,1 por ciento). Entre los del sistema nervioso predominó la hidrocefalia (51,7 por ciento), los defectos septales dentro de los cardiovasculares (28,0 por ciento) y la hidronefrosis (66,0 por ciento) en las genitourinarias. Conclusiones: Se constató que la ultrasonografía prenatal permitió un mejor control de la gestación, al contribuir en el reconocimiento de un gran número de defectos congénitos, especialmente estructurales, durante la vida intrauterina y, con ello, contribuir a la disminución de la morbiletalidad perinatal(AU)

Introduction: Ultrasound is the main tool for diagnosis of congenital defects, especially structural ones, by means of an internal and external examination of the fetal anatomy. Objective: To characterize congenital defects diagnosed by prenatal ultrasonography. Methods: A longitudinal, descriptive study was carried out in Santiago de Cuba Municipality, covering the period 2016-2017. Genetic diseases were excluded. The sample consisted of 967 pregnant women with confirmed diagnosis of fetal structural congenital defects. The anomalies were classified by systems and the therapeutic behavior followed was assessed. The information was processed in a computerized way. The results were expressed in absolute values and percentages, as well as shown in tables. Results: In the period studied, 2.1 percent of the sample had a previous history of elective voluntary abortion. Adjusted prevalence for congenital defects was observed to be 10.1 per thousand live births. Advanced gestational age accounted for 50.9 percent of the cases under follow-up, of which 6.1 percent were stillbirths. The percentage of elective voluntary abortion reached 64.4 percent of the sample. The most frequent ultrasound findings were alterations of the central nervous system (23.4 percent), the genitourinary system (25.2 percent) and cardiovascular ones (18.1 percent). Facial defects were the least diagnosed (1.1 percent). Among those corresponding to the nervous system, there was a predominance of hydrocephalus (51.7 percent); septal defects predominated among cardiovascular ones, accounting for 28.0 percent; and hydronephrosis (66.0 percent) predominated among genitourinary ones. Conclusions: Prenatal ultrasonography was found to allow better pregnancy control, by contributing to the recognition of a large number of congenital defects, especially structural ones, during intrauterine life, a fact contributing to the reduction of perinatal morbidity and mortality(AU)

Parto pré-termo espontâneo sem rotura de membranas: prevalência, fatores de risco e o papel do colo uterino / Spontaneous preterm birth without premature rupture of membranes: prevalence, risk factors and the role of the cervix

Cerca de 15 milhões de prematuros nascem por ano globalmente. Em 2015 ocorreram mais de 4 milhões de mortes de crianças menores de 5 anos, e as complicações da prematuridade são a principal causa de óbito em neonatos. O parto pré-termo é uma síndrome em que múltiplas etiologias convergem para uma via final única, e os fatores de risco mais importantes são antecedente de prematuridade e gestação gemelar. O colo uterino tem a função de manter a gestação desde a concepção até o parto, e seu processo de amadurecimento gera esvaecimento, dilatação e encurtamento, num continuum que pode compreender desde quadros de insuficiência cervical até o parto pré-termo espontâneo sem rotura de membranas. Este primeiro artigo, da série de três, descreve a prevalência da prematuridade, seus fatores de risco e o papel do colo uterino no processo de parturição.(AU)

Around 15 million preterm births happen globally. In 2015 over 4 million deaths in children under 5 years of age died and preterm birth complications is the leading cause in neonates. Preterm birth is a multiple etiology syndrome, in which various causes converge to a single parturition path. The most important risk factors are multiple gestation and obstetrical history of preterm birth. Uterine cervix is responsible for pregnancy maintenance from conception to birth, and its remodeling process generates effacement, dilation and shortening in a continuum that comprises conditions from cervical insufficiency to preterm birth without membrane disruption. This is a first article, of a series of three, describing preterm birth prevalence, risk factors and uterine cervix role in parturition.(AU)

Caracterización clínica epidemiológica de los defectos congénitos del tracto genitourinario / Clinical-epidemiological Characterization of Congenital Defects of the Urinary Tract

Introducción: La malformación congénita es una alteración estructural de un órgano o parte de este, que sucede como consecuencia de una alteración durante la morfogénesis y que puede corresponder a defectos menores o mayores, únicos, múltiples o asilados. Objetivo: Caracterizar clínica y epidemiológicamente los defectos congénitos del tracto genitourinario. Métodos: Se realizó un estudio observacional retrospectivo en 453 fetos con diagnóstico por ecografía bidimensional de defecto congénito del tracto genitourinario. Para ello se tomó en cuenta la edad materna y gestacional al diagnóstico, antecedentes personales y familiares de interés clínico genético y la conducta terapéutica según criterio médico. Los datos fueron procesados mediante el Programa Microsoft Excel 2010, aplicándoles el método porcentual y los resultados expuestos en forma de tablas. Resultados: El 75,27 por ciento de las anomalías se presentaron en gestantes con edad materna entre 20 y 34 años. El 62,6 por ciento de los defectos fueron diagnosticados en el segundo trimestre del embarazo, con predominio del sexo masculino en los fetos estudiados. La pielocaliectacia (27,3 por ciento) resultó la principal causa de evaluación inicial seguida de la hidronefrosis (26,2 por ciento). Hubo correlación entre el diagnóstico definitivo por ultrasonido y el resultado de la necropsia. Los casos en seguimiento no presentaron ninguna complicación y solo en nueve gestantes se registró interrupción anterior por defectos genitourinarios. Conclusiones: Se constató aumento progresivo del diagnóstico de anomalías congénitas del tracto genitourinario por años de estudio, las pielocaliectacias bilaterales resultaron la principal causa de evaluación inicial(AU)

Introduction: A congenital malformation is a structural alteration of an organ or part of it, which happens as a consequence of an alteration during morphogenesis and may correspond to minor or major, unique, multiple or isolated defects. Objective: To characterize, clinically and epidemiologically, the congenital defects of the genitourinary tract. Methods: A retrospective observational study was carried out in 453 fetuses diagnosed with a congenital defect of the genitourinary tract by using two-dimensional ultrasound. For this, we considered the maternal and gestational ages at diagnosis, personal and family history of clinical genetic interest, and therapeutic behavior according to medical criteria. The data was processed using the program Microsoft Excel 2010, applying the percentage method and the results presented in tables. Results: 75.27 percent of the anomalies occurred in pregnant women with maternal ages between 20 and 34 years. 62.6 percent of the defects were diagnosed at second trimester of pregnancy, with a predominance of the male sex in the studied fetuses. Pyelocaliectasis (27.3 percent) was the main cause of initial evaluation, followed by hydronephrosis (26.2 percent). There was a correlation between the definitive ultrasound diagnosis and the outcome of the autopsy. The follow-up cases did not present any complications and only nine pregnant women presented a previous interruption due to genitourinary defects. Conclusions: A progressive increase in the diagnosis of congenital anomalies of the genitourinary tract was verified for years of study. Bilateral pyelocaliectasis was the main cause of initial evaluation(AU)

Comprimento de colo uterino ao ultrassom transvaginal como preditor de risco do parto pré-termo espontâneo / Ultrasound cervical lenght predicting risk for spontaneous preterm birth

O encurtamento do colo uterino é parte da via final comum da parturição seja a termo ou pré-termo. A identificação precoce do comprimento cervical encurtado ao ultrassom transvaginal no segundo trimestre gestacional pode atuar como preditor de risco de prematuridade. Desde a década de 1990, vários estudiosos dedicaram-se a estabelecer parâmetros de referência para as medidas de colo uterino entre 16 e 24 semanas e até hoje o limite mais consensualmente aceito é de 25 mm. Especialistas são favoráveis à triagem universal, mas diretrizes internacionais são controversas quanto à investigação em casos sem antecedente de parto pré-termo, além de diversos estudos apresentarem que há custo-efetividade no rastreamento universal. Neste artigo, discutimos criticamente os parâmetros apresentados por estudos históricos e balizadores de conduta, a custo-efetividade e os guidelines internacionais. Propomos ainda uma reflexão ao pré-natalista, sugerindo a individualização da conduta perante os dados de cada gestante específica.(AU)

Cervical shortening is the final path of parturition, regardless if it is term or preterm. Precocious identification of a shortened cervix by transvaginal ultrasound during the second gestational trimester can act as a risk predictor of prematurity. Since the 1990´s decade, numerous studies established reference ranges for cervical length measurement between 16 to 24 gestational weeks and the most accepted cutoff limit is 25 mm. Experts indicate universal screening, however international guidelines are controversial, even in cases without a history of preterm birth, furthermore, many studies demonstrated cost-effectiveness about the universal screening of cervical length in middle gestation. In this article we discuss historical reference ranges, cost- -effectiveness, and international guidelines. We propose critical thinking and suggest individualized management according to specific characteristics of each patient.(AU)

Diagnóstico prenatal y posnatal de anomalías del tracto urinario / Pre- natal and post-natal diagnosis of urinary tract anomalies

Introducción: El ultrasonido prenatal aporta una magnífica forma de introducirnos en la patofisiología renal humana, pero es incapaz de detectar todas las anomalías. Objetivos: Identificar las principales anomalías de riñón y tracto urinario en pacientes con diagnóstico prenatal o posnatal de estas anomalías. Métodos: Se incluyeron en el estudio todos los pacientes que llegaron remitidos al servicio de Nefrología del Hospital Pediátrico Docente William Soler entre el 1ero. de octubre de 2015 y el 30 de septiembre de 2017, por haberse detectado alteraciones en el ultrasonido prenatal durante el seguimiento de un embarazo normal y aquellos en los que después del nacimiento se comprobó alguna anormalidad en forma incidental o por síntomas relacionados. Se programó seguimiento clínico, imagenológico y terapéutico de acuerdo con la anomalía detectada. Resultados: El estudio incluyó 81 pacientes, 65 con diagnóstico prenatal y 16 con hallazgo posnatal. El sexo masculino estuvo representado por el 66,7 por ciento y la anomalía más frecuente estudiada resultó la displasia renal multiquística (23,4 por ciento). En segundo lugar, el diagnóstico morfológico correspondió a dilataciones del tracto urinario, que en su estudio posnatal se clasificaron como hidronefrosis (20,9 por ciento), pielectasias (17,4 por ciento) y reflujo vesicoureteral (7,4 por ciento). Conclusiones: El ultrasonido prenatal para la detección de anomalías de riñón y tracto urinario es un proceder diagnóstico de gran utilidad porque permite prepararnos para enfrentar estas anomalías antes que presente síntomas relacionados y además puede proporcionar una adecuada información a los padres. No todas las anomalías congénitas se detectan mediante ecografía prenatal(AU)

Introduction: The prenatal ultrasound provides a great way to introduce us to the human renal pathophysiology, but is unable to detect all of the anomalies. Objectives: To identify the main anomalies of the kidney and urinary tract in patients with prenatal or postnatal diagnosis of those. Methods: There were included in the study all the patients who were referred to the Nephrology Service of William Soler Pediatric Teaching Hospital from October 1, 2015 to September 30, 2017 being detected alterations in the prenatal ultrasound during the follow-up of a normal pregnancy and those in which after birth any abnormality was found incidentally or by related symptoms. Clinical, imaging and therapeutic follow-up were scheduled in accordance with the anomaly detected. Results: The study included 81 patients, 65 with prenatal diagnosis and 16 with post-natal finding. The male sex was represented by the 66.7 percent and the most common anomaly studied was the multicystic dysplastic kidney (23.4 percent). Secondly, the morphological diagnosis corresponded to dilations of the urinary tract, which in the post-natal study were classified as hydronephrosis (20.9 percent), pyelectasis (17.4 percent) and vesicoureteral reflux (7.4 percent). Conclusions: The prenatal ultrasound for the detection of kidney and urinary tract´s anomalies is a diagnosis of great utility because it allows us to prepare to face these anomalies before they present related symptoms and it can also provide adequate information to parents. Not all congenital anomalies are detected by prenatal ultrasound(AU)

Local references for ultrasound-estimated fetal weight based on 2, 211 singleton pregnancies in the City of Curitiba, south of Brazil / Referências locais para o peso fetal estimado por ultrassom baseado em 2. 211 gestações únicas na cidade de Curitiba, Sul do Brasil

Abstract Objective To develop reference curves of estimated fetal weight for a local population in Curitiba, South of Brazil, and compare them with the curves established for other populations. Methods An observational, cross-sectional, retrospective study was conducted. A reference model for estimated fetal weight was developed using a local sample of 2,211 singleton pregnancies with low risk of growth disorders and well-defined gestational age. This model was compared graphically with the Hadlock and Intergrowth 21st curves. Results Reference curves for estimated fetal weight were developed for a local population. The coefficient of determination was R2 = 99.11%, indicating that 99.11% of the fetal weight variations were explained by the model. Compared with Hadlock curves, the 50th, 90th, and 97th percentiles in this model were lower, whereas the 10th percentile nearly overlapped, and the 3rd percentile was slightly higher in the proposed model. The percentiles were higher in the proposed model compared with the Intergrowth 21st curves, particularly for the 3rd, 10th, and 50th percentiles. Conclusion We provide a local reference curve for estimated fetal weight. The proposed model was different from other models, and these differences might be due to the use of different populations for model construction.

Resumo Objetivo Desenvolver curvas de referência para o peso fetal estimado em uma população de Curitiba, Sul do Brasil, e compará-las com curvas estabelecidas para outras populações. Métodos Foi realizado um estudo observacional, transversal e retrospectivo. Um modelo de referência para o peso fetal estimado foi desenvolvido usando uma amostra local de 2.211 gestações únicas de baixo risco de distúrbios do crescimento e idade gestacional bem definida. Este modelo foi comparado graficamente com as curvas de Hadlock e Intergrowth 21st. Resultados As curvas de referência para o peso fetal estimado foram desenvolvidas para uma população local. O coeficiente de determinação foi de R2 = 99,11%, indicando que 99,11% das variações do peso fetal foram explicadas pelo modelo. Em comparação com as curvas de Hadlock, os percentis 50, 90, e 97 neste modelo foram inferiores, enquanto o percentil 10 quase se sobrepôs, e o percentil 3 foi ligeiramente superior no modelo proposto. Os percentis foram maiores no modelo proposto em comparação com as curvas do Intergrowth 21st, particularmente para os percentis 3, 10, e 50. Conclusão Fornecemos uma curva de referência local para o peso fetal estimado. O modelo proposto foi diferente de outros modelos, e essas diferenças podem ser devido ao uso de diferentes populações para a construção do modelo.

Modelo predictivo de restricción del crecimiento intrauterino usando doppler de arterias uterinas y edad materna / Predictive model of intrauterine growth restriction using uterine artery doppler and maternal age

INTRODUCCIÓN: La restricción del crecimiento intrauterino representa una importante morbimortalidad perinatal y cuya detección es variable según modelos clínicos y características propias en cada población. OBJETIVO: Evaluar si el Doppler de arterias uterinas y la edad materna conforman un modelo clínico con capacidad predictiva de restricción del crecimiento intrauterino en una amplia muestra de población peruana. MATERIALES Y MÉTODOS: Estudio observacional, analítico, de prueba diagnóstica. Participaron 1344 gestantes atendidas en un centro de referencia nacional materno perinatal Nivel III en Perú entre 2010-2018. La muestra fue seleccionada aleatoriamente y dividida en: muestra de entrenamiento y muestra para validación del mejor modelo clínico obtenido. Se usó análisis multivariado, medición de la capacidad diagnóstica y predictiva. RESULTADOS: El modelo clínico formado por el índice de pulsatilidad promedio mayor al percentil 95 de la arteria uterina y la edad materna mayor a 35 años conformo el modelo con el menor indicador de penalidad de Akaike en comparación con los otros modelos clínicos elaborados en el presente estudio, el índice de Youden fue 0.53. El área bajo la curva ROC fue de 0.75. Se obtuvo una sensibilidad de 71.5%, especificidad 72.1%, valor predictivo positivo 65.8%, valor predictivo negativo 91.2%. CONCLUSIONES: El uso del índice de pulsatilidad promedio de la arteria uterina asociado a la edad materna contribuyen a la formación de un modelo para discriminar RCIU; sin embargo, requiere de otros factores que permitan ajustar el modelo para una mayor tasa de detección.

INTRODUCTION: Intrauterine growth restriction represents an important perinatal morbimortality and its detection varies according to clinical models and characteristics of each population. OBJECTIVES: To evaluate if uterine artery Doppler and maternal age conform a clinical model with predictive capacity of intrauterine growth restriction in a wide sample of Peruvian population. MATERIALS AND METHOD: Observational, analytical, diagnostic test study. A total of 1344 pregnant women attended a national maternal perinatal reference center Level III in Peru between 2010-2018. The sample was randomly selected and divided: training sample and validation sample. In the analysis, multivariate analysis and measurement of diagnostic and predictive capabilities were applied. RESULTS: The clinical model formed by the average pulsatility index greater than the 95th percentile of the uterine artery and maternal age greater than 35 years made up the model with the lowest Akaike's penalty indicator compared to the other clinical models developed in the present study, Youden's index was 0.53. The area under the ROC curve 0.75. Sensitivity 71.5%, specificity 72.1%, positive predictive value 65.8%, negative predictive value 91.2%. CONCLUSIONS: The use of the average pulsatility index of the uterine artery associated with maternal age contributes to the formation of a model to discriminate IUGR; however, it requires other factors to adjust the model for a higher detection rate.

Síndrome de perfusión arterial reversa de feto a feto / Reverse Arterial Perfusion Syndrome from Fetus to Fetus

RESUMEN Introducción: Uno de los temas que presenta más interés en los obstetras es el relacionado con la gestación gemelar. Su diagnóstico nos permite clasificarla como una gestación de riesgo, en la cual el estudio ecosonográfico es muy importante al proporcionar datos relacionados con el tipo de placentación. Presentación de caso: Se realiza ecografía prenatal del I trimestre para confirmación de diagnóstico presuntivo de onfalocele, donde se constata embarazo gemelar, monoamniótico, monocorial. Se realiza el diagnóstico de síndrome de perfusión arterial reversa feto a feto. El estado anormal del "corazón" del feto podría identificarse como una holoacardia; pero el grado de malformación que presenta no se ajusta a ninguno de los criterios de esta clasificación. Teniendo en cuenta el hallazgo precoz y la elevada mortalidad que se asocia en estos casos se sugirió la opción de interrumpir el embarazo. Conclusiones: El asesoramiento genético referido a las posibles terapias a emplear estaría limitado en este caso, debido a la alta morbimortalidad perinatal, la falta de experiencia en relación con el tratamiento medicamentoso, y la escasa disponibilidad de técnicas para la intervención fetal(AU)

ABSTRACT Introduction: One of the topics of most interest to obstetricians is related to twin pregnancy. Its diagnosis allows to classify it as a risk gestation, in which the echo-sonographic study is very important because it provides data related to the type of placentation. Case report: First trimester prenatal ultrasound is performed to confirm the presumptive diagnosis of omphalocele, revealing twin, monoamniotic, monochorial pregnancy. The diagnosis of fetus-to-fetus reverse arterial perfusion syndrome is made. The abnormal state of the fetus´s heart could be identified as a holoacardia; but the degree of malformation it presents does not fit any of the criteria of this classification. Taking into account the early finding and the high mortality associated in these cases, the option of interrupting the pregnancy. Conclusions: Genetic counseling regarding possible therapies to be used would be limited in this case, due to the high perinatal morbidity and mortality, the lack of experience in relation to drug treatment, and the limited availability of techniques for fetal intervention(AU)