Analysis on echocardiographic data of fetal heart defects at high altitude in Yunnan province and surrounding high altitude areas / 中华心血管病杂志

Objective: To explore the current situation of fetal heart defects in Yunnan Province and surrounding high altitude areas and the social factors affecting pregnancy outcome. Methods: This is a retrospective study. Pregnant woman who underwent fetal echocardiography and diagnosed as fetal cardiac defects in Yunnan Fuwai Cardiovascular Hospital from June 2017 to January 2021 were included. According to the clinical prognostic risk scoring system and grading criteria of fetal cardiac birth defects, the cases were divided into grade Ⅰ to Ⅳ. The disease distribution and proportion of each prognostic grade, pregnancy outcomes were analyzed and compared. The cases were divided into continued pregnancy group and terminated pregnancy group according to pregnancy outcome. The social factors that may affect the selection of pregnancy outcomes were analyzed by multivariate logistic regression analysis. Results: A total of 4 929 fetal echocardiography examination data were collected, and 4 464 cases (90.57%) were from Yunnan Province and surrounding high altitude areas. 2 166 cases of heart defects were finally analyzed, including 998 cases of congenital heart disease (CHD), 93 cases of cardiac tumors, cardiomyopathy and arrhythmia, 1 075 cases of foramen ovale, ductus arteriosus abnormalities and normal variations. The pregnant women were (29.2±5.0) years old with (25.6±3.8) gestational weeks. The number of cases with prognostic grade from Ⅰ to Ⅳ was 1 037 (47.88%), 620 (28.62%), 314 (14.50%), and 44 (2.03%), respectively. And 151 cases (6.97%) were not classified. The cases of normal variation and thin aortic arch development accounted for 42.66% (924/2 166), 5.22% (113/2 166), respectively. The top 3 diseases of grade Ⅱ were ventricular septal defect, coarctation of aorta and mild-moderate pulmonary stenosis, respectively, and their distribution was 11.63% (252/2 166), 3.92% (85/2 166) and 2.35% (51/2 166) respectively in all cases of heart defects, and 25.25% (252/998), 8.52% (85/998) and 5.11% (51/998) respectively in cases of CHD. Among the cases rated as grade Ⅲ and Ⅳ, most of them were complicated congenital heart disease, and the disease types are scattered. The more common cases in grade Ⅲ were complete transposition of great arteries (accounting for 2.40% (52/2 166) of all cases with heart defects, 5.21% (52/998) of all cases with CHD) and pulmonary artery occlusion (type Ⅰ to Ⅲ) with ventricular septal defect (accounting for 2.17% (47/2 166) of all cases with heart defects, and 4.71% (47/998) of all cases with CHD). In grade Ⅳ, single ventricle (0.74% (16/2 166) of all cases with heart defects, 1.60% (16/998) of all cases with CHD) and left ventricular dysplasia syndrome (0.65% (14/2 166) of all cases with heart defects, 1.40% (14/998) of all cases with CHD) are more common. A total of 1 084 cases were successfully followed up, and 675 cases were born, 392 cases were terminated, spontaneous abortion occurred in 17 cases. The proportion of terminated pregnancy cases was significantly increased from grade Ⅰ to Ⅳ, accounting for 5.24% (21/401), 27.78% (70/252), 89.54% (214/239) and 95.56% (43/45), respectively. Among the terminated pregnancy cases, those with grade Ⅲ accounted for the highest proportion (54.59% (214/392)). The distribution of terminated pregnancy cases was mainly complex congenital malformations or diseases with very poor prognosis (pregnancy outcome grade Ⅲ and Ⅳ), and proportion of terminated pregnancy with pregnancy outcome grade Ⅰ and Ⅱ cases (normal variation or good prognosis) accounted for 5.36% (21/392) and 17.86% (70/392), respectively. The results of multivariate logistic regression analysis showed that pregnant women with low education (high school and below: OR=2.73, 95%CI 1.26-5.93, P<0.001; illiteracy: OR=3.27, 95%CI 1.29-7.10, P<0.001) and low family income (Annual income<100 000 yuan: OR=2.47, 95%CI 1.69-5.12, P<0.001) were more likely to choose termination of pregnancy in case of fetal heart defect. Conclusion: In Yunnan province and the surrounding high altitude areas, the disease distribution of fetal heart defect is mainly simple or low-risk disease, but the complex malformation, especially the disease with poor pregnancy outcome, accounts for a relative high proportion. Pregnancy termination also occurs in some cases with good pregnancy outcome. The education level and family income of pregnant women may affect their choice of pregnancy outcome in case of fetal heart defect.

Cardiomyopathy and cardiac function in fetuses and newborns of diabetic mothers

Abstract Objective: To evaluate cardiac function and structural changes in children of diabetic mothers in the fetal and neonatal period using Doppler-echocardiographic data. Method: A prospective, descriptive observational study conducted in a private and tertiary care service for high-risk pregnant women. It included 48 children of mothers with gestational diabetes mellitus (GDM) considered clinically compensated during pregnancy, with a single fetus and absence of malformations. Myocardial thickness, shortening fraction, left ventricular (LVMPI) and right ventricular (RVMPI) myocardial performance index, and mitral and tricuspid valve E/A ratio were evaluated in 96 echocardiographic exams with Doppler. Results: The hypertrophic cardiomyopathy was 29% vs 6% p = 0.006 in the prenatal and postnatal periods respectively. The shortening fraction was 0% vs 6% p = 0.242 in the fetuses and newborns respectively. The myocardial performance index of the right ventricle was 12% vs 54% p ≤ 0.001, and on the left ventricle 27% vs 60% p = 0.001 in the prenatal and postnatal periods respectively. The ratio of mitral valve E/A waves was 6% vs 50% p ≤ 0.001 and the ratio of tricuspid valve E/A waves was 0% vs 27% p 0.001 in the fetuses and newborns respectively. Conclusion: A decrease in the rate of myocardial hypertrophy and changes in cardiac function parameters were observed in the fetal and neonatal periods.

Gran feto acardio: diagnóstico tardío de gestacion gemelar monocorial biamniótica complicada por secuencia TRAP: reporte de un caso y revisión de la literatura / Great acardiac fetus: late diagnosis of monochorionic diamniotic twin pregnancy complicated by sequence TRAP: case report and review of the literature

OBJETIVOS: reportar el caso de una paciente con gestación gemelar monocorial-biamniótica complicada por secuencia TRAP que dio lugar al nacimiento de un feto bomba de 1932 gramos sin malformaciones anatómicas y de un feto acardio anceps de 1800 gramos, y realizar una revisión sobre esta patología y la importancia de su diagnóstico y tratamiento precoces. MATERIALES Y MÉTODOS: se presenta el caso de un feto acardio en una gestante con embarazo sin control estricto en el Hospital San Pedro de Logroño en el año 2019, de interés por su diagnóstico tardío y elevado peso al nacimiento del feto acardio. Se realizó una búsqueda de la literatura en las bases de datos Medline vía PubMed, OVID, Embase y SciE-LO con las palabras clave DeCS y términos MeSH. Como criterios de inclusión se consideraron artículos tipo series y reportes de casos y artículos de revisión desde enero de 1950 hasta enero de 2020. RESULTADOS: la búsqueda incluyó 39 referencias bibliográficas sobre las que se repasaron las principales cuestiones teóricas a exponer. El peso del feto acardio de nuestro caso fue muy elevado sin provocar repercusión en el feto sano, en comparación con la bibliografía, lo que aporta singularidad al caso, siendo sólo equiparable la serie de casos de Brassard et al (1999), con pesos de los fetos acardio por encima de 1700 gramos y diferenciándose en 100 gramos del feto bomba. CONCLUSIONES: el feto acardio es una complicación infrecuente de embarazos gemelares monocoriales. Se requiere la presencia de anastomosis vasculares placentarias entre ambas circulaciones. El diagnóstico precoz es importante para disminuir la morbilidad y usar, en la medida de lo posible, técnicas terapéuticas no invasivas.

OBJECTIVES: to report the case of a patient with a monochorionic-biamniotic twin gestation complicated by TRAP sequence that gave rise to the birth of a pump fetus without anatomical malformations (1932 g) and an acardiac anceps fetus (1800 g), and to review this pathology and the importance of its early diagnosis and management. MATERIAL AND METHODS: the case of an acardiac fetus is presented in a pregnant woman without strict control at the Hospital San Pedro de Logroño in 2019, worthwhile because of its late diagnosis and high birth weight. A search of the literature was carried out in the Medline databases via PubMed, OVID, Embase and SciELO with the MeSH terms. As inclusion criteria, we considered series-type articles and case reports, cohorts and review articles from January 1950 to January 2020. RESULTS: 39 bibliographic references were included with the main theoretical questions to be reviewed. Our acardiac fetus weight was very high comparing with the bibiography and without causing repercussion in the healthy fetus, which contributes to the uniqueness of the case, only the series report by Brassard et al (1999) is comparable, with weights of the acardiac fetus above 1700 grams and differing by 100 grams from the pump fetus. CONCLUSIONS: the acardiac fetus is an infrequent complication of monochorionic twin pregnancies. The presence of placental vascular anastomoses between both circulations is required. Early diagnosis is important to decrease morbidity and to use, as far as possible, non-invasive therapeutic techniques.

Anormalidades del tamaño del corazón fetal / Anomalies in the fetal heart disease

Introducción: el corazón fetal es la víscera más difícil de estudiar, debido a que es un órgano móvil con una anatomía compleja y presenta un número importante de anomalías posibles. Objetivos: exponer al alcance de los especialistas dedicados al diagnóstico prenatal una revisión de las posibles causas que modifican el tamaño del corazón fetal. Métodos: la evaluación de su tamaño se realiza a partir de la vista ecocardiográfica de las cuatro cámaras la cual es obtenida realizando un barrido ultrasonográfico desde el abdomen hasta el tórax. Cuando el tamaño es normal, ocupa un tercio del tórax fetal y la circunferencia cardíaca equivale aproximadamente a la mitad de la circunferencia torácica durante todo el curso del embarazo. Resultados: las anomalías del tamaño del corazón pueden ser ocasionadas por disminución o por incremento del radio cardiotorácico. En relación con su incremento es muy importante definir si este es debido a un crecimiento global del corazón o si está afectada una cavidad auricular, ventricular o ambas. En cuanto a la disminución del tamaño este siempre será debido a compresiones intratoráxicas. Conclusiones: la evaluación ecocardiográfica del corazón fetal resulta posible en casi la totalidad de los casos y aporta un elemento de valor al examen prenatal del feto(AU)

Introduction: Fetus heart is the most difficult viscera to be studied, due to the fact that it is a moving organ with a complex anatomy and an important amount of possible anomalies. Objective: To provide the specialists devoted to the prenatal diagnose with a review of the possible causes that modify the fetus heart size. Methods: The heart size is evaluated from an echocardiographic image of its four chambers, which is obtained in an ultrasonic scanning¨from the abdomen to the thorax. When the size is normal, it occupies one third of the fetal thorax and the cardiac circumference is roughly equal to half the thorax circumference throughout the pregnancy. Results: Heart size anomalies could be caused by a drop or an increase of the cardiothoracic radius. It is very important to define whether the increase is due to a global growth of the heart or to an affected atrial or ventricular cavity, or both. Size decreases will always be connected to an intrathoracic compression. Conclusions: Echocardiographic assessment of the fetal heart is possible in almost all cases and provides a valuable element to the fetus prenatal testing(AU)

Esclerosis tuberosa, diagnóstico fetal y materno / Tuberous sclerosis, fetal and maternal diagnosis

La esclerosis tuberosa (ET) es una enfermedad genética, autosómica dominante que tiene expresividad variable y que se caracteriza por la presencia de hamartomas en múltiples órganos de diferentes sistemas (piel, cerebro y corazón). Es causada por mutaciones en los genes TSC1 locus 9q34 y TSC2 locus 16p13. Tiene una prevalencia de 1 en cada 5000 a 10000 recién nacidos vivos. Se reporta el caso de una gestante y su feto con diagnóstico de ET. Se observaron masas en corazón y cerebro en el feto. El examen físico exhaustivo de la embarazada mostró criterios mayores de la enfermedad. Los hallazgos del diagnóstico prenatal fueron confirmados en el recién nacido. Se contribuye a la construcción de datos epidemiológicos latinoamericanos, y se aporta un plan de manejo a fetos, embarazadas y recién nacidos con ET.

Tuberous Sclerosis (TS) is a genetic disorder, exhibits an autosomal dominant inheritance pattern with variable expression, characterized by the presence of hamartomas in multiple organs of various systems (skin, brain and hearth). It is caused by mutations in genes TSC1 loci 9q34 and TSC2 loci 16p13. It has a prevalence of 1 in every 5000 to 10000 live births. We report a case of a pregnant and her fetus with diagnosis of TS. Masses in heart and brain in the fetus were observed, the thorough physical examination of pregnant also showed major criteria of the disease. Prenatal diagnosis findings were confirmed in the newborn. The objective is contribute to the construction of Latin American epidemiological data, a management plan for fetuses, pregnant women and infants with TS is provided.

Efficacy of fetal echocardiography and an evaluation of indications.

Fetal echocardiography has been accepted as a prenatal noninvasive diagnostic tool of cardiovascular diseases in fetuses for more than three decades. There are limited data in Thailand. A retrospective study of prenatal, natal and postnatal data of pregnant women who had fetal echocardiography at Siriraj Hospital, Bangkok, Thailand, from January 1999 to July 2005 was conducted. In total, there were 117 pregnant women who had fetal echocardiography under standard indications. Median age of pregnant women was 30.2 (17.3-44.2) years old. Median gestational age at the first fetal echocardiography was 29 (17-40) weeks. Median number of time the women had fetal echocardiography was 1 (1-10). Indications for fetal echocardiography were; obstetricians suspected of fetal cardiovascular diseases, multiple anomalies, family history of congenital heart diseases, chromosome anomalies, hydrops fetalis, and other indications (53.8%, 12%, 11.1%, 8.5%, 8.5% and 6.0% respectively). There were 49 (41.8%) cases who had abnormal cardiovascular problems, i.e., structural heart diseases 26 cases, rhythm disturbance 15 cases, and cardiac masses 8 cases. Upon comparison with postnatal echocardiography and/or autopsy findings, fetal echocardiography had a sensitivity of 96.9%, specificity of 90.6%, and accuracy of 92.8%. There was various degrees of risk to have cardiovascular problems for each of the indication taking fetal echocardiography and postnatal data into consideration. Fetal echocardiography had an impact on the management in 57.3% of cases. Conclusion: Fetal echocardiography is a reliable prenatal diagnostic tool for cardiovascular problems with high accuracy and has an impact on the management at prenatal, natal and postnatal period. Different indications for fetal echocardiography have an effect on the relative risk of fetal cardiovascular diseases.

Prenatal ultrasound diagnosis in Thailand.

Ultrasound technology has been extensively employed in obstetric and gynecologic practice for several decades. It has been used not only in gestational age estimation, placental location, amniotic fluid assessment but also in antenatal diagnosis of fetal abnormalities of various systems. The incidence of Congenital Heart Disease (CHD) is currently estimated to be 8 to 9 out of every 1,000 live births. Congenital heart disease is thought to be a multifactorial disorder in over 90% of the cases. Pioneer studies on the ultrasound investigation of the heart were reported in the early 1970s. Since the introduction of high resolution real-time ultrasound in the late 1970s, reports on ultrasound assessment of fetal cardiac anatomy and function have been appearing with increasing frequency in both the obstetric and cardiologic literature. At present, fetal echocardiography is a well established technique for the prenatal diagnosis of CHD. However, the distribution of the technique is still limited as it requires both a very experienced operator and meticulous scanning. Screening the entire obstetric population does not appear possible at present. Therefore fetal echocardiography is as necessarily directed toward selected pregnancies carrying a higher-than-normal risk of fetal cardiac anomalies. The progressive developments in cardiac ultrasound during the past two decades have substantially altered the practice of perinatologists, obstetricians and cardiologists. Total cardiac ultrasound studies are now becoming the primary armamentarium in the diagnosis of fetal congenital heart diseases. Since a 92% sensitivity of 4-chamber view in screening fetal heart diseases was first reported in 1987, 4-chamber view has been widely recommended for routine use in fetal sonographic examinations. Recent studies have demonstrated somewhat variable results and have suggested incorporation of the out flow should thoroughly understand the advantages and limitations of fetal cardiac scanning especially the 4-chamber view in order that the appropriate information and management plan can be offered to the patients. Fetal cardiac scanning is well recognized as one of the most tedious scanning of all fetal organ systems. With a tremendous advancement in ultrasound resolution including color imaging capacity several kinds of fetal cardiac anomalies could be diagnosed antenatally which inevitably allows more proper management plan for couples engaged in these.