目的 探讨胎儿左心发育不良综合征产前超声诊断方法，提高诊断准确性。 方法 常规产前超声检查方法，应用四腔心切面和三血管气管平面进行胎儿心脏畸形筛查。 结果 2006年1月-2008年12月发现4例左心发育不良综合征，3例并发心内畸形（2例右室双出口及1例室缺），1例并发心外畸形（Dandy-Walker畸形及单脐动脉）。 结论 应用四腔心切面和三血管气管平面筛查心室发育不良简单易行，准确性高。
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.
ObjectiveTo analyze the prenatal screening data of Longquanyi district, and evaluate the effect of prenatal screening technology in birth defects prevention. MethodsA total of 10230 serum samples in Chengdu Longquanyi District Prenatal Screening Center from November 2010 to December 2012 were tested and analyzed, and the risk rates of Down's Syndrome, Trisomy 18 Syndrome and Open Neural Tube Defects (ONTDs) were obtained by Risk2T risk calculation software. The results of prenatal screening were verified and evaluated by high risk referral, pregnancy tracing and pregnancy outcome follow-up. ResultsIn the 10 230 pregnant women, the positive rate of Down's Syndrome was 6.02%, Trisomy 18 Syndrome was 0.42% and Open Neural Tube Defects was 0.57%, and compliance rate of prenatal diagnosis was 51.56%. In the 57 high risk pregnant women of ONTDs, 53 women selected system color doppler ultrasound with a proportion of 92.98%, but in the 647 high risk pregnant women of Down's or Trisomy 18 Syndrome, only 47.30% of them chose amniocentesis for diagnosis. The χ2 analysis showed that the difference was significant compared between system color doppler ultrasound and amniocentesis group (P<0.05). By diagnosis, 3 Down's Syndrome patients were found. ConclusionSecond trimester maternal serum prenatal screening plays an important role in birth defects prevention in Longquanyi district. However, there is a great need to improve compliance rate of prenatal diagnosis of Down's and Trisomy 18 Syndrome.
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.
ObjectivesTo systematically review the incidence of various outcomes in non-visualization of the fetal gallbladder (NVFGB) fetuses by prenatal ultrasonography.MethodsPubMed, The Cochrane Library, Elsevier, ClinicalKey, CBM, CNKI and WanFang Data databases were electronically searched to collect studies on NVFGB fetuses by prenatal ultrasonography from January 1990 to March 2019. Two reviewers independently screened literature, extracted data and assessed risk of bias of included studies. Then, meta-analysis was performed by using R 3.5.2 software.ResultsA total of 9 studies were included. The results of meta-analysis showed that: the incidence of fetal biliary atresia was 1.0%, with 2.0% in the isolated and 3.0% in the non-isolated. The incidence of cystic fibrosis was 6.0%, with 2.0% in the isolated and 9.0% in the non-isolated. The incidence of chromosomal abnormality was 5.0%, and 31.0% in non-isolated. The incidence of other malformations other than those described above was 13.0%, with 44.0% in the non-isolated. The incidence of gallbladder agenesis or absent gallbladder was 22.0%, with 28.0% in the isolated. The incidence of later visualization of gallbladder and normal fetal outcomes was 53.0%, with 63.0% in the isolated.ConclusionsCurrent evidence shows that most non-visualization of the fetal gallbladder can identify the presence of gallbladder during late gestation or neonatal ultrasonography. The exactly isolated non-visualization of the fetal gallbladder is highly related to the fetal gallbladder agenesis or the absence of the gallbladder. The non-isolated non-visualization of the fetal gallbladder is highly related to biliary atresia, cystic fibrosis (particularly in the presence of fetal bowel echogenicity), and chromosomal abnormalities (especially chromosome aneuploidy).
ObjectiveTo systematically review the prognosis of fetal isolated hyper echogenic kidneys (IHEK) on prenatal ultrasound examination. MethodsPubMed, EMbase, Web of Science, WanFang Data, and CNKI databases were electronically searched to collect cross-sectional studies on the prognosis of fetal IHEK on prenatal ultrasound examination from January 1990 to January 2021. Two reviewers independently screened literature, extracted data, and assessed the risk of bias of included studies; then, meta-analysis was performed by using R 3.5.2 software. ResultsA total of 9 cross-sectional studies involving 348 fetuses were included. The results of meta-analysis showed that the incidence rate of live births was 79% (95%CI 69% to 88%), termination of pregnancy/neonatal mortality (TOP/NND) was 30% (95%CI 15% to 45%), normal kidneys was 34% (95%CI 15% to 53%), autosomal recessive polycystic kidney disease (ARPKD) was 21% (95%CI 12% to 30%), autosomal dominant polycystic kidney disease (ADPKD) was 13% (95%CI 5% to 21%), and multicystic dysplastic kidney (MCDK) was 4% (95%CI 2% to 7%). Subgroup analysis showed that the prognosis of normal amniotic fluid subgroup was significantly superior to that of reduced amniotic fluid subgroup. ConclusionCurrent evidence shows that the incidence of adverse pregnancy outcomes in patients with IHEK on prenatal ultrasound examination is high, the prognosis is superior when IHEK with normal amniotic fluid volume, and is worse when with small amniotic fluid volume. Due to limited quality and quantity of the included studies, more high-quality studies are required to verify the above conclusion.
ObjectiveTo observe and determine the gene mutation site and clinical phenotype of a NDP gene mutant family, and provide a basis for the prenatal diagnosis of offspring. MethodsA pedigree investigation study. Two patients and 6 family members of a third-generation Han family with NDP gene mutation who were admitted to the Maternal and Child Health Hospital of Gansu Province from July 2019 to December 2021 were included in the study. The patients and their parents underwent the examination of pupil light reflex, strip light imaging, visual acuity evaluation, fundus color photography, and wide-field fluorescein fundus angiography (FFA). Peripheral blood of all the subjects was collected, the pathogenic genes were screened by whole exome sequencing, and NDP genes were detected by amplification of multiple ligated probes. DNA prenatal diagnosis was performed by amniocentesis at 19th weeks of the mother's third gestation.ResultsProband (Ⅲ1), male, 4 years old, full term natural delivery. At about 40 days after birth, B-mode ultrasonography indicated total retinal detachment in both eyes. Normal hearing and intelligence. Fundus examination was not performed. First sibling of proband (Ⅲ2, big younger brother), ophthalmologic examination 30 days after birth, retinal detachment in both eyes. Proband's mother (Ⅱ2) had unvascularized peripheral temporal retina in both eyes. Wide-angle FFA examination showed no vascularization of the peripheral temporal retina in both eyes, and slight leakage of peripheral vascular fluorescein. The proband's second sibling (Ⅲ3, little younger brother) was screened for neonatal eye disease 1 day after birth. No abnormalities were observed outside both eyes. Cornea and lens transparent. No abnormalities were observed in the optic disc and macula in both eyes. No vascular curvature was observed in the peripheral retina. The results of gene detection showed that there was hemizygote deletion in exon 2 of NDP gene of the proband (Ⅲ1) and its big younger brother (Ⅲ2). His mother (Ⅱ2) had heterozygosity deletion in exon 2 of NDP gene. The phenotype and genetic test results of the proband's father (Ⅱ1), uncle (Ⅱ3), maternal grandfather (Ⅰ1) and maternal grandmother (Ⅰ2) were not abnormal. ConclusionsThe hemizygote deletion in exon 2 of NDP gene is a pathogenic variation in the native family. The clinical phenotypes of different genders are different. Prenatal diagnosis is an effective way to block hereditary diseases in families.