Early diagnosis of congenital heart disease (CHD) can improve the prognosis of neonates with CHD. We retrospectively evaluated the value of prenatal diagnosis of CHD by comparing the pregnancy outcomes. Prenatal diagnosis of CHD was established by echocardiographic evaluation of fetal heart. Amniotic fluid and/or cord blood genetic examination, pathological anatomy, casting specimen, and/ or multidisciplinary-joint consultation (MDJC) were performed. A total of 1492 fetuses with CHD were diagnosed by prenatal echocardiography from 67834 pregnant women. There were 445, 236, 583, and 228 cases in groups A (simple CHD), B (simple CHD plus extra-cardiac abnormality), C (complex CHD), and D (complex CHD plus extra-cardiac abnormality), respectively. The pregnancy continuation rate in the four groups was 98.67%, 85.71%, 67.65%, and 36.84%, respectively (P < 0.001). The pregnancy termination rate for fetal CHD with extra-cardiac abnormalities was significantly higher than that for fetuses with only CHD (81.24% vs. 53.6%, P < 0.05). Prenatal genetic test revealed chromosomal abnormalities in 20.43% of fetuses with CHD. MDJC significantly decreased the pregnancy termination rate. In 88 cases, the original decision to terminate the pregnancy was changed after consultation and the pregnancy was continued. Of these, 87 cases culminated in live births; 65 of these children had better prognosis. Nine-segment sequential segment analysis method for prenatal fetal echocardiography was compared with the results of pathological anatomy, cast specimen, postoperative diagnosis, and postnatal ultrasound. The accuracy of prenatal ultrasound for diagnosis of fetal complex CHD and fetal simple CHD was 90.5-91.66% and 98.6%, respectively. Prenatal ultrasound is still the most effective method for fetal CHD diagnosis. According to the "China Birth Defect Prevention Report (2012)" 1 , congenital heart disease (CHD) is the most common type of birth defect in China accounting for 26.7% of all birth defects in 2011. More than 130,000 new cases of CHD are reported each year in China. Globally, a total of 48.9 million cases of CHD were reported in 2015 2. The reported incidence of CHD varies from 4 to 75 per 1,000 live births depending upon the method of diagnosis. About 0.6 to 1.9% of live born infants with CHD have moderate to severe disease 3. CHD is the leading cause of birth defect-related deaths 4. In 2015, an estimated 303,300 infants died around the world due to CHD 5 .

No abstract

Objectives To develop and validate a biliary atresia (BA) diagnostic score based on serum gamma‐glutamyl transferase (GGT) levels and conventional ultrasound features for discriminating BA in patients with jaundice from two centers. Methods A total of 958 patients from one hospital were classified as the derivation cohort, and 725 patients from another hospital were classified as the validation cohort. The optimal GGT cutoff value for diagnosing BA was calculated in the derivation cohort and subsequently verified in the validation cohort. Gallbladder abnormalities and the triangular cord (TC) sign were evaluated in all patients. A BA diagnostic score was developed for diagnosing BA using the GGT levels, gallbladder abnormalities and the TC sign based on the data from the derivation cohort followed by external validation. Results Based on the optimal cutoff value 350.0 U/L, GGT yielded a sensitivity of 59.3% and specificity of 85.4% in diagnosing BA. The area under the receiver operating characteristic curve (AUC 0.724) was inferior to that of the gallbladder (AUC 0.911, P < .001) and comparable to that of the TC sign (AUC 0.771, P = .128). The combination of GGT and ultrasound diagnosis could help to reduce the misdiagnosis of 9 infants with BA. The BA diagnostic score yielded a sensitivity of 93.3% and specificity of 95.0% with the highest AUC in this study (0.941). Conclusions GGT can add diagnostic value to ultrasound examination when diagnosing BA. The BA diagnostic score based on GGT, gallbladder abnormalities and the TC sign shows satisfactory discrimination abilities in BA.

Rationale:Co-occurrence of medullary thyroid carcinoma (MTC) and papillary thyroid carcinoma (PTC) in the same thyroid gland with liver metastasis is a rare condition. To our knowledge, the utility of contrast-enhanced ultrasound (CEUS) to diagnose it is much less.Patient concerns:A 33-year-old female was referred to our hospital due to the increase in plasma calcitonin concentration and carcino-embryonic antigen 12 months after her total thyroidectomy. To find metastasis, she received laboratory tests, gray-scale US, and CEUS. In our paper, ethical approval was not necessary, as this article is a case report, which is based on the clinical information of the patient. Because our case does not refer to the patient's privacy, informed consent is not necessary.Diagnoses:Gray-scale abdominal ultrasound image demonstrated a mildly hyperechoic nodule in the liver. In CEUS, the nodules were hyperenhanced in the arterial phase. In the late arterial phase, the enhancement was washed out quickly. The nodules presented hypoenhancement in the portal and parenchymal phase, which conformed to the hepatic metastasis.Interventions:The patient received thyroid and liver surgery.Outcomes:She was free of disease for 10 months at the time of this report.Lessons:In this case, liver metastases from MTC can be detected and characterized reliably as hypoenhancing lesions during the portal venous and late phases of CEUS, washing out starts early, and is marked. We suspect MTC is a kind of tumor that tends to have rich blood supply and consider contrast-enhanced ultrasound as a suitable method for the follow-up of patients with MTC.

A 14-day-old female infant presented to hospital with abdominal distension from the eighth day after birth. Physical examination showed severe whole abdominal distension with abdominal wall varicosis and local swelling and induration in the right lower abdomen (a). Plain radiography showed a gas-fluid level in the right lower abdomen, and Doppler ultrasound showed a mass in the right lower abdominal, whereas intestinal perforation with inclusion mass formation should be considered. Exploratory laparotomy was performed and found a Meckel's diverticula with perforation located near the end of the ileum, which was 25 cm from the ileocecal junction and opposite the mesentery (b, arrowhead). An intestinal resection and anastomosis were performed. Postoperative histological examination revealed the ectopic duodenal glands (c). The patient was treated with a combination of cefoperazone, a thirdgeneration cephalosporin, and sulbactam for a 2-day course and was discharged 8 days after surgery. (Informed consent was obtained from the patient's parents to publish these images.