摘要:目的: 探讨产前超声检查对胎儿前脑无裂畸形的诊断及鉴别价值。 方法 :对我院产前超声筛查中发现的17例胎儿前脑无裂畸形的超声声像图及引产后的尸检资料进行回顾性对照分析。 结果 :产前超声诊断的17例前脑无裂畸形全部经引产后尸检证实,颅脑异常的声像图表现为单一脑室、丘脑融合及脑镰、胼胝体等中线结构缺如,大多数病例均伴有不同程度的颜面部畸形。 结论 :产前超声对前脑无裂畸形具有重要的诊断价值,该病特有的颅脑声像图特征及大多伴有颜面部畸形的特点有助于诊断及鉴别诊断。Abstract: Objective: To explore the diagnostic and differential diagnostic value of prenatal ultrasound in fetal holoprosencephaly. Methods : The sonograms and autopsy data of 17 cases of fetal holoprosencephaly found in 21568 pregnant women by prenatal ultrasound were analyzed retrospectively. Results : Seventeen cases of fetal holoprosencephaly diagnosed by prenatal ultrasound and autopsy were confirmed. Characteristic ultrasound findings in holoprosencephaly included a single primitive ventricle, fused thalami, absence of midline structures such as the falx cerebri and corpus callosum, and facial abnormalities. Conclusion : Prenatal ultrasound has important value in the diagnosis of fetal holoprosencephaly. The characteristic ultrasound findings of the intracranial and facial abnormalities are helpful for the diagnosis and differential diagnosis of holoprosencephaly.
Congenital heart disease refers to the structural or functional abnormality of the macrovascular in the heart or thoracic cavity caused by the failure of the formation of the heart and large blood vessels during the embryonic development or the abnormal closure of the heart or the closure of the channel after birth. In the past few years, a new and broader definition of structural heart disease has been gradually proposed. Structural heart disease narrowly refers to the pathological and physiological changes of the heart caused by abnormal anatomical structures in the heart, including congenital heart disease. A few decades ago, congenital heart disease was considered as a pediatric disease, because most patients with severe lesions rarely survive to adulthood. Due to recent advances in echocardiography, anesthesia, intensive care, percutaneous intervention, especially cardiac surgery in recent decades, the treatment and intervention strategies for congenital heart disease in children have been greatly improved, a fatal defect in childhood can now be successfully repaired or alleviated. Because of these successes, more than 90% of congenital heart disease patients are expected to survive to adulthood, which has led to emerge a new population: adult patients with congenital heart disease. Adult congenital heart disease patients are different from children. Pulmonary hypertension leads to right heart failure and eventually progresses to whole heart failure. The appearance of Eisenmenger syndrome leads to severe cyanosis and worsening of the disease. At present, the continuous development of mechanical assisted circulation support devices and heart or cardiopulmonary transplantation technology has increased the survival rate of end-stage adult congenital heart disease patients with heart failure. The high incidence of cardiovascular events in pregnant patients requires comprehensive multidisciplinary team care and early coordination planning for delivery, including early counseling for pregnancy-related risks, close monitoring of cardiac function and regular scan of fetal assessment. The prenatal and postpartum integrated diagnosis and treatment model and the development of intrauterine treatment technology reduce the incidence of congenital heart disease in adults from the source through fetal intervention. Other complications such as arrhythmia, infective endocarditis, cerebrovascular accidents, and other medical underlying metabolic diseases also challenge future diagnosis and treatment. The incidence and epidemiology of adult congenital heart disease, pulmonary hypertension and end-stage heart failure complications, as well as prenatal and postpartum integrated diagnosis and treatment and intrauterine treatment are summarized in this review.
Objective To investigate the basic status of adult cleft lip and palate patients and the social perception of different populations towards cleft lip and palate diseases in the Chinese Mainland, and provide a scientific basis for further improving the public awareness of cleft lip and palate diseases. Methods A questionnaire survey on basic demographic information was conducted among cleft lip and palate patients who were aged 18 or above and received diagnosis and treatment in the Department of Cleft Lip and Palate Surgery, West China Hospital of Stomatology, Sichuan University between January 2022 and October 2023. Simultaneously, another questionnaire survey was conducted among cleft lip and palate specialists, genetic and prenatal counsellors, ultrasound staff, general medical staff, families of cleft lip and palate patients, and the general population, to investigate their level of knowledge regarding prenatal diagnosis, treatment, and prognosis of cleft lip and palate, as well as their corresponding decision-making choices. Results A total of 489 copies of questionnaire were distributed to patients with cleft lip and palate who were 18 years old or above, and 440 valid copies were collected, with an effective response rate of 90.0%. Among the 440 patients, 90.0% were aged 18-30 years, 57.7% were males, 65.7% were residing within Sichuan Province, 53.8% had an associate degree, bachelor’s degree or above, 71.6% had no fixed occupation, 75.0% had siblings, and 86.8% had a monthly family income of ≤10000 yuan. In terms of the questionnaire on social perception of cleft lip and palate among different populations, a total of 1513 copies of questionnaire were collected, among which 1437 were valid copies, with an effective response rate of 95.0%. There was no statistically significant difference (P>0.05) in the understanding and perception among different populations regarding the questions “Does cleft lip and palate affect the quality of life and future development of affected children?” or “Do you think families of children with cleft lip and palate experience significant pressure?”, while there were statistically significant differences (P<0.05) in the understanding and perception of the remaining eight questions. Conclusions People with cleft lip and palate have certain difficulties in employment and need more attention and help from the society. There are differences in social perception related to cleft lip and palate among different groups of people.