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Purpose To explore the diagnostic value of beak sign in fetal annular pancreas by analyzing the ultrasonographic features of fetal annular pancreas.Materials and Methods The ultrasound images and clinical data of 13 cases of fetal annular pancreas diagnosed by prenatal ultrasound in Shandong Provincial Maternal and Child Health Hospital from September 2019 to December 2021 and confirmed by surgery after birth were retrospectively analyzed.The degree of duodenal stenosis at the obstruction site was observed,especially whether the angle formed by the intestinal wall could identify the fetal annular pancreas,and the ultrasonic characteristics were summarized and analyzed.Results A total of 13 fetuses with annular pancreas showed double bubble sign,3 cases showed clamp sign,and 7 cases showed beak sign at the end of duodenal dilatation.All the 13 cases underwent surgical treatment after birth,including 2 cases with duodenal atresia and 1 case with atypical intestinal malrotation.All the children had good prognosis after operation.Conclusion By observing the dilated end of duodenum and the relationship with pancreatic head,prenatal ultrasound combined with beak sign and double bubble sign could improve the diagnostic accuracy of fetal annular pancreas,which has significant value in prenatal diagnosis of fetal annular pancreas.
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Objective:To determine the diagnostic accuracy and prognosis of fetal congenital heart disease (CHD) detected by ultrasound at 11-13 weeks gestation.Methods:Fetuses at 11 to 13 + 6 weeks gestation in the Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region between January 2015 and December 2022 were prospectively collected. Standrardized ultrasound was used to examine the fetuses. For the suspected fetal CHD, the section of cardiac ultrasound was improved as far as possible, and ultrasonic results, prenatal diagnosis, pathological anatomy and pregnancy outcome were followed up. Results:A total of 539 cases of CHD were detected in 72 242 fetuses with mixed risk in the first trimester, the incidence was 0.75% (539/72 242). The incidence of CHD in the fetuses with positive soft markers was 9.20% (287/3 118), and the incidence of multiple fetal malformations was 16.22% (235/1 449). The diagnostic accordance rate of complex CHD was 97.42%. For complex CHD, the sensitivity, specificity, false positive rate and false negative rate of first-trimester ultrasound were 90.41%, 99.98%, 0.02%, 9.59%. Combined with the results of this study, the abnormal section model of complex CHD was recommended. A total of 252 cases underwent staining chromosomal microarray or gene sequencing, of which 42.46% (107/252) were positive.Conclusions:Standardized ultrasound examination has a very high detection rate for fetal CHD in the first trimester. Transverse scanning of the heart can significantly improve the display of gray scale cardiac section, and reference to the cardiac section pattern map is beneficial to the early diagnosis of fetal CHD.
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Objective:To explore the diagnostic value of first-trimester and mid-trimester ultrasound in screening fetal pentalogy of Cantrell, and to analyze missed and misdiagnosed cases.Methods:The fetal ultrasound image characteristics of pentalogy of Cantrell diagnosed in the Affiliated Suzhou Hospital of Nanjing Medical University from March 2018 to November 2022 were retrospectively analyzed. The necessary sections and key features of ultrasound images for diagnosing the disease in first-trimester and mid-trimester were summarized. The diagnostic value of ultrasound screenings in first-trimester and mid-trimester was analyzed, and the progression of the disease during pregnancy was understood, the missed diagnosis rate and misdiagnosis rate were calculated, and the reasons for missing diagnosis were analyzed. All fetuses were followed up to birth or induction of labor.Pentalogy of Cantrell was divided into types Ⅰ, Ⅱ, and Ⅲ according to Toyama′s research.Results:Among the 120 190 fetuses, 13 cases of pentalogy of Cantrell were diagnosed by ultrasound in first-trimester and mid-trimester. Ultrasound predominantly showed the fetal heart being malpositioned outside the chest and the fetal abdominal contents bulging outside the abdominal cavity, and the sternumal echo was partially or completely missed in some cases. All 13 cases were confirmed by follow-up, including 1 case of type Ⅱ, and 12 cases of type Ⅲ. In addition, 1 missed case of type Ⅱ pentalogy of Cantrell was followed up after birth. The correct diagnostic rates of fetal pentalogy of Cantrell using standard ultrasound sections during the first-trimester and mid-trimester were 99.9% and 100%, the sensitivity were 88.9% and 100%, the specificity were both 100%, the positive predictive values were both 100%, and the negative predictive values were 99.9% and 100%, respectively.Conclusions:First-trimester and mid-trimester ultrasound screenings have high diagnostic accuracy for pentalogy of Cantrell, and early detection and early diagnosis are of great clinical significance for the guidance of pregnancy outcomes.
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Objective:To investigate the ultrasonic characteristics and evolution pattern of fetal adrenal hematoma (AH).Methods:A retrospective analysis was conducted on the clinical data of one fetal AH diagnosed at the Affiliated Hospital of Jining Medical University. The study involved a comprehensive search of the relevant cases of fetal AH published from January 1, 1989, to December 31, 2022, in the Yiigle database, China National Knowledge Infrastructure Database, Wanfang Database, and PubMed Database. The clinical features, sonographic characteristics, interventions, and prognosis of fetal AH were summarized. Descriptive statistical analysis was used.Results:(1) Case: An ultrasound at 36 +3 weeks of pregnancy detected a mixed echogenic nodule at the fetal left adrenal region, with clear border and no obvious blood flow signal. Fetal AH was considered. Observations from the close ultrasound follow-up on the case before and after birth, and one year and eight months after birth presented a gradual transformation of the lesion from mixed echogenic to solid echogenic and a reduction following enlargement in lesion size. The lesion was ultimately liquefied and absorbed. (2) Literature review: A total of 12 cases of fetal AH that had clear diagnosis and ultrasound data were retrieved and added to the present case, for a total of 13 cases. Neither prenatal maternal nor postnatal typical clinical manifestations were observed in fetal AH cases. In cases with large hemorrhage and/or bilateral adrenal hemorrhage, mild jaundice and feeding difficulties may be present. Two cases were terminated, one live baby died of heart failure due to vein of Galen aneurysmal malformation, other ten had good prognosis. Fetal AH ultrasound image features demonstrated time-dependent changes, progressing in the sequence of anechoicity, solid echogenicity, mixed echogenicity, and complete absorption of the lesion, or residual hyperechogenicity. Conclusions:Fetal AH is a rare condition that exhibits characteristic transformations in ultrasound image features over time. Conducting close follow-up ultrasound examinations is the preferred and crucial approach to the diagnosis of fetal AH.
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Placenta accreta spectrum (PAS) disorders are one of the important causes of adverse pregnancy outcomes. Some studies reported that the limitations in commonly used auxiliary examination methods led to missed or misdiagnosis, resulting in adverse pregnancy outcomes. Digital three-dimensional (3D) reconstruction is the 3D graphical visualization constructed on the original data to illustrate the spatial relationship between structures, overcoming the limitations of two-dimensional images. As a novel auxiliary diagnostic tool, digital 3D reconstruction provides promising insights into the development of personalized precision medicine. This article reviews the research and application of ultrasound and MRI 3D reconstruction in the field of PAS.
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Objective:To summarize the ultrasonographic features and prognosis of fetal persistent vitelline artery.Methods:The prenatal ultrasound features, genetic testing results, and prognosis of a fetus with an isolated persistent vitelline artery that was diagnosed in our hospital in December 2021 were retrospectively analyzed. Relevant articles were retrieved from CNKI, VIP, Wanfang, Yiigle, PubMed, Embase, and UpToDate databases using the terms "persistent vitelline artery", "type Ⅱ single umbilical artery", and "prenatal ultrasound" in both Chinese and English. Prenatal ultrasound features and prognosis of the persistent vitelline artery in fetuses were summarized using descriptive statistical analysis.Results:(1) Case report: In this case, ultrasound at 23 gestational weeks showed that an abnormally large blood vessel deriving from the celiac artery near the superior mesenteric artery entered the placenta through the umbilical opening in parallel with the umbilical vein. Color Doppler showed a blood flow spectrum like that in the umbilical artery. The transverse section image showed that bilateral umbilical arteries were not observed in the bladder and the free segment of the umbilical cord was in the shape of the Chinese character "Lyu". No obvious other structural abnormalities and a negative result of genetic testing were observed in the fetus. Followed up to one year old, the patient showed normal growth and development. (2) Literature review: A total of five articles involving four cases were retrieved (three in English and two in Chinese). Among the five cases, including the present case, one was terminated due to left renal agenesis and abnormal heart arteries ratio revealed by prenatal ultrasound, and the remaining four cases without obvious structural abnormalities in the prenatal ultrasound were born and developed well. Histopathological examination of the umbilical cord was performed in three cases, of which two with persistent vitelline artery had a distinct internal elastic lamina, and one with remained vitelline duct.Conclusions:The prenatal ultrasound of fetal persistent vitelline artery is typically characterized by an abnormal vessel that is derived from the abdominal aorta or superior mesenteric artery and plays the function of the umbilical artery. The prognosis of the isolated persistent vitelline artery is good, but a better understanding of such embryonic abnormalities is needed as there are few relevant reports at home and abroad.
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This article reported a case of fetal congenital pyriform sinus fistula (CPSF) diagnosed by prenatal ultrasound. An oval cystic mass in the left side of the fetal neck was detected during routine prenatal ultrasonography at 17 +2 weeks of gestation, which was also found in the systemic ultrasound screening at 23 weeks. Besides, a narrow fistula between the cyst and pharynx was observed in the coronal view of the neck, raising the suspicion of CPSF. On day 21 after birth, the cystic mass bulged out of the neck and the neonate started choking and coughing during feeding alongside wheezing respiration. Ultrasound examination showed a strong gas echo in the cystic mass, which was also confirmed by CT scan on day 25. On day 26, cystectomy, ligation of high fistula, and fistulectomy were performed, and the diagnosis of CPSF was confirmed. The baby recovered after the operation and was healthy during follow-up till three months.
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SUMMARY OBJECTIVE: The aim of this study was to compare the correlation of maternal visceral adiposity with sonographic variables related to fetal biometry in the second trimester of pregnancy in mothers who were previously obese versus nonobese and gestational diabetic versus nondiabetic. METHODS: This cross-sectional study included 583 pregnant women who received prenatal care between October 2011 and September 2013 at the Instituto de Medicina Integral Prof. Fernando Figueira, northeast of Brazil. Maternal visceral adiposity was measured by ultrasound examination at the same time as fetal biometry. Gestational age was 14.9±3.2 weeks. The correlation between maternal visceral adiposity and fetal biometric variables was evaluated using Pearson's correlation coefficient. Among the groups, the correlation coefficients were compared using Fisher's Z-test. This test was also used to evaluate the null hypothesis of correlation coefficients between pairs of variables. RESULTS: Maternal visceral adiposity positively correlated with fetal abdominal circumference, estimated fetal weight, head circumference, femur length, and biparietal diameter in pregnant women with obesity, nonobesity, gestational diabetes, and nondiabetes, but the correlation coefficients were statistically similar among the groups. CONCLUSION: Maternal visceral adiposity positively correlated with fetal biometry in the second trimester of pregnancy in the same manner in pregnant women previously obese and nonobese, as well as in pregnant women with gestational diabetes and nondiabetes.
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SUMMARY OBJECTIVE: The aim of this study was to compare the efficiency of fetal thymic-thoracic ratio and fetal thymus transverse diameter measurements in gestational diabetes mellitus. METHODS: Fetal thymic-thoracic ratio and fetal thymus transverse diameter were assessed in 360 pregnant women. Patients were examined in two groups: 180 gestational diabetes mellitus (study group) and 180 healthy pregnant women (control group). RESULTS: There were no statistically significant differences between the cases with gestational diabetes mellitus and the control group in terms of fetal thymus transverse diameter; however, the fetal thymic-thoracic ratio was found to be significantly lower in cases with gestational diabetes mellitus compared to that in the control group (p<0.001). CONCLUSION: The fetal thymic-thoracic ratio is superior to the fetal thymus transverse diameter in evaluating the fetal thymus size.
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Objective To compare the accuracy of prenatal ultrasonic diagnosis for congenital anomalies of the kidney and urinary tract(CAKUT)as well as pregnancy outcomes before and after implementation of the two-child and three-child policy in China during 2012-2022.Methods Data of 53 857 pregnant women with 158 CAKUT fetuses in pre-policy group,and 167 627 pregnant women with 521 CAKUT fetuses in post-policy group were retrospectively analyzed.The incidence rate of fetal CAKUT,the accuracy of prenatal ultrasonic diagnosis and the birth rate of CAKUT were compared groups.Results The incidence rate of fetal CAKUT was 0.31％(521/167 627)in post-policy group and 0.29％(158/53 857)in pre-policy group,in the former was lower than in the latter(P＞0.05).Pregnant women with CAKUT fetus in post-policy group was older than in pre-policy group([29.2±4.6]years vs.[27.0±4.3]years,P＜0.05),while prenatal ultrasonic diagnosis of CAKUT in post-policy group was earlier than in pre-policy group([25.3±7.3]weeks vs.[27.8±7.1]weeks,P＜0.05).No significant difference of diagnostic accuracy of prenatal ultrasound of CAKUT,of upper urinary tract related abnormalities,lower urinary tract related abnormalities nor single CAKUT was found between groups(all P＞0.05).The proportion of extra-renal urinary system abnormalities was the highest in both groups.The accuracy of prenatal ultrasound diagnosis of other system abnormalities in post-policy group was lower than that in pre-policy group(all P＜0.05).The accuracy of prenatal ultrasonic diagnosis of posterior urethral valve formation in post-policy group was higher than that in pre-policy group(100％vs.50.00％,P＜0.05),but no significant difference of other abnormal manifestations was detected between groups(all P＞0.05).Terminate pregnancy occurred in 143 fetuses with CAKUT,while other 536 fetuses continued pregnancy.There was no significant difference of the birth rate of CAKUT fetuses with upper urinary tract related abnormalities,lower urinary tract related abnormalities nor other system abnormalities between groups(all P＞0.05).The birth rate fetuses with single CAKUT in post-policy group was higher than that in pre-policy group(97.61％vs.93.18％,P＜0.05).Conclusion With the implementation of two-child and three-child policy of China,the average prenatal ultrasonic diagnosis of CAKUT became earlier,the accuracy of prenatal ultrasonic diagnosis of CAKUT and the birth rate of fetus with single CAKUT increased.
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There are many kinds of variabilities of fetal venous system tending to complicated with complex cardiovascular malformations.Prenatal ultrasound is of great importance for evaluation of fetal venous system.High-definition flow(HD-Flow)combined with spatiotemporal image correlation(STIC)could not only display micro blood flow in fetal venous system,but also show the spatial alignment and flow direction in real time.The research progresses of HD-Flow combined with STIC for evaluating fetal venous system abnormalities were reviewed in this article.
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Ultrasound has become the optimal imaging method for prenatal screening,whereas the operator dependence and high imaging variability may affect the accuracy of results and examination efficiency.Applied in segmentation and recognition tasks in images,deep learning(DL)is able to derive higher-level features from lower-level features,accurately characterize the inherent laws or information features of raw data.The research progresses of DL applicated in prenatal ultrasonic section analysis were reviewed in this article.
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Objective:To investigate the diagnostic value of prenatal MRI in the detection of abnormal placental cord insertions (APCIs) comparing with prenatal ultrasound and pathological examination.Methods:A retrospective data collection was conducted on 440 patients who underwent both prenatal placental ultrasound and MRI at the Foshan Women and Children Hospital from December 2013 to December 2021. Among them, 37 cases were APCIs confirmed by surgery or pathology. The prenatal placental MRI findings were analyzed and compared with prenatal ultrasound diagnosis. The diagnostic efficacy of prenatal MRI and ultrasound in diagnosing APCIs was calculated.Results:Among the 37 cases of APCIs confirmed by surgery or pathology, 17 cases had marginal cord insertion (MCI), 13 cases had velamentous cord insertion (VCI), 5 cases had vasa previa (VP), and 2 cases had VCI combined with VP. The sensitivity and specificity of ultrasound diagnosis for APCIs were 59.5% (22/37) and 97.8% (394/403), respectively. The sensitivity and specificity of MRI diagnosis for APCIs were 86.5% (32/37) and 98.5% (397/403), respectively. Among the 37 cases of APCIs, prenatal MRI missed diagnosis of 2 cases of MCI, 2 cases of VCI, and misdiagnosed 1 case of VCI as an accessory placenta. MRI identified 10 cases of APCIs missed by ultrasound, including 5 cases of MCI, 2 cases of VP, 2 cases of VCI, and 1 case of combined VCI with VP. Additionally, ultrasound misdiagnosed 4 cases of APCIs, including 2 cases of VCI misdiagnosed as MCI and 2 cases of MCI misdiagnosed as VCI.Conclusions:For APCIs complicated with abnormalities of placental location or morphology, or placental accretion spectrum disease in late pregnancy, MRI has a higher diagnostic efficacy than ultrasound.
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Urorectal septum malformation sequence (URSMS) is a rare congenital complex malformation characterized by severe abnormalities in the urinary, reproductive and digestive systems. It is difficult to diagnose URSMS by prenatal ultrasound due to its complex and variable manifestations. This paper reported a twin with partial URSMS. Prenatal ultrasound findings included pelvic "trilobe" cystic masses, sacrococcygeal hemivertebral malformations, imperforate anus, and transient ascites. Postnatal examination confirmed the diagnosis of URSMS, as the baby girl was born with anal atresia. Her colon, urethra, and vagina converged and formed a common tract with a single perineal opening. The baby died after her parents' refusal to surgical treatment.
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This article reported two fetuses diagnosed with Pallister-Killian syndrome (PKS). Amniotic fluid samples of one pregnant woman (case 1), with an abnormal result of non-invasive prenatal test, were analyzed by karyotyping and copy number variation-sequencing (CNV-seq), and samples of the other one (case 2), with a prenatal ultrasound of a lowered spinal conus and an enhanced echo of the renal cortex, were tested for CNV-seq. The chromosome karyotype of case 1 showed 47,XN,+mar[30]/46, XN[10]. CNV-seq results revealed three to four copies of repetition of the p13.33p11.1 segment of chromosome 12, suggesting 12p tetrasomy chimerism in both fetuses. The diagnosis of fetal PKS was confirmed through the combination of multiple technologies (ultrasound, chromosomal karyotype analysis, and CNV-seq). The two pregnancies were terminated after genetic counseling.
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Objective:To explore the clinical efficacy of ultrasound-indicated cervical cerclage in twin pregnancies.Methods:This retrospective cohort study included 96 asymptomatic twin pregnancies with cervix length (CL)≤2.5 cm at 16-27 +6 weeks indicated by transvaginal ultrasound from January 2013 to May 2022 in Fujian Maternity and Child Health Hospital. They received either cervical cerclage (cerclage group, n=45) or conservative treatment (conservative group, n=51). The subgroup analysis was further performed after stratifying the subjects into the CL≤1.0 cm subgroup, the CL>1.0-≤1.5 cm subgroup, and the CL>1.5 cm subgroup. Two independent samples t-test, Mann-Whitney U test, and Chi-square test were used to compare the differences in the pregnancy and perinatal outcomes between different groups. Multivariate logistic regression was used to analyze the impact of cervical cerclage on pregnancy outcomes of women with different CLs. Results:The average gestational age at delivery and the prolonged gestation were significantly greater in the cerclage group than those in the conservative group [35.9 (34.9-37.0) weeks vs 34.9 (29.1-36.1) weeks; 10.7 (9.6-13.1) weeks vs 8.7 (4.8-11.0) weeks, Z=－2.59 and -3.63, both P<0.05]. The incidences of preterm birth before 34 weeks and 28 weeks, chorioamnionitis, and preterm premature rupture of membrane were lower in the cerclage group than those in the conservative group [17.8% (8/45) vs 45.1% (23/51), χ2=8.16; 2.2% (1/45) vs 15.7% (8/51), Fisher' exact test; 8.9% (4/45) vs 25.5% (13/51), χ2=4.52; 15.6% (7/45) vs 33.3% (17/51), χ2=4.03; all P<0.05]. There were no statistically significant differences in the proportion of postpartum hemorrhage and live births between the two groups (both P>0.05). In the women with CL≤1.0 cm, the cerclage group had a greater gestational age at delivery [36.0 (34.8-37.3) weeks vs 34.9 (28.6-35.4) weeks, Z=－2.61, P=0.009], greater prolonged gestation [12.3 (9.7-13.9) weeks vs 7.3 (3.4-9.1) weeks, Z=－3.34, P=0.001], higher birthweight [2 430.0 (2 173.8-2 646.3) g vs 1 900.0 (1 372.5-2 435.0) g, Z=－3.06, P=0.002], lower incidence of adverse neonatal outcomes [16.7% (6/36) vs 36.7% (11/30), χ2=4.22, P=0.048] compared with the conservative group. Multivariate Logistic regression analysis showed that cerclage reduced the risks of preterm birth before 34 and 32 weeks [ aOR (95% CI)=0.083 (0.009-0.790) and 0.092 (0.009-0.939), both P<0.05]. However, cerclage did not reduce the risk of preterm birth in women with CL>1.5 cm or CL>1.0-≤1.5 cm (both P>0.05). Conclusion:Ultrasound- indicated cervical cerclage can reduce the risk of preterm birth before 34 and 32 weeks, prolong pregnancy, and improve perinatal outcomes in asymptomatic twin pregnancies with CL≤1.0 cm.
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Objective:To explore the genetic causes of cerebellar hypoplasia (CH) diagnosed by prenatal ultrasound.Methods:This retrospective study involved 32 fetuses with CH diagnosed by prenatal ultrasound in Wuxi Maternal and Child Health Hospital from January 2014 to December 2022. Prenatal ultrasound findings and genetic testing results for amniotic fluid were collected and analyzed. The correlation between fetal CH and genetic abnormality was analyzed. A descriptive statistical method was used for data analysis.Results:(1) General data: The 32 mothers were (28.0±4.9) years old, ranging from 18 to 37 years old; the gestational age at amniocentesis was (24.2±4.0) weeks, ranging from 18 +3 weeks to 37 +2 weeks. Apart from one case lost to follow-up, the other 31 cases terminated the pregnancies, including 30 terminated before 28 weeks of gestation and one at 33 weeks of gestation due to unmarried status. (2) Ultrasonic features: Among the 32 cases, 30(93.8%) were complicated by intracranial or extracranial abnormalities including cardiac abnormalities (15 cases), dilated lateral ventricles (ten cases), and abnormalities in limbs (eight cases) and face (nine cases). Two CH cases (6.2%) were isolated. (3) Genetic testing: Among the 32 cases, 13 cases (40.6%) had normal results of amniotic fluid karyotype analysis and single nucleotide polymorphism (SNP) array. Among the 19 cases with abnormal amniotic fluid test results (59.4%), 16 cases have abnormal results in amniotic fluid karyotype analysis and SNP array detection [nine cases were numerical abnormalities, including five cases of trisomy-18, three of trisomy-21, and one of trisomy-13; seven cases were chromosomal structural abnormalities, including four cases of terminal deletion of chromosome 5 (Cri-du-Chat syndrome) and three cases of reciprocal translocation of chromosomes]. There was no abnormality in karyotype analysis of amniotic fluid in three cases. Still, their SNP array test results showed copy number variations (CNV) [one of 6q terminal deletion, one of 6q terminal deletion with 5p15.33 duplication, and one of 6q terminal deletion with 15q26.3 duplication; all variations were of unknown significance]. (4) Of the 19 cases with abnormal SNP array results, 17 were accompanied by abnormal intracranial/extracranial ultrasound findings. Among them, ten cases showed cardiac malformation, seven showed lateral ventricular widening, and seven showed limb abnormality. Conclusions:Numerical abnormalities, CDCS, and 6q terminal deletion are the most common genetic causes of CH diagnosed by prenatal ultrasound. Chromosome microarray analysis should be recommended for fetuses with ultrasound-diagnosed CH to evaluate fetal prognosis accurately.
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Objective:To summarize the prenatal ultrasonographic features of Beckwith- Wiedemann syndrome (BWS).Methods:This retrospective study retrieved the records of six cases with BWS from Women and Children's Hospital of Chongqing Medical University from January 2015 to December 2022, to analyze their ultrasonographic features, clinical features after birth or termination, and genetic test results using descriptive statistical analysis method.Results:Intrauterine overgrowth was found in all six fetuses by prenatal ultrasound, and the estimated fetal weights were higher for their gestational age. Prenatal ultrasound findings showed macroglossia and protrusion of tongue in five cases, hepatomegaly in four cases, enlarged kidney in four cases, thickened umbilical cord in three cases, and intestinal duplication in two cases. Genetic testing showed that all six cases were associated with genetic damage at the 11p15.5 chromosome region. Three pregnancies were terminated after the diagnosis, and the features of gross specimens were consistent with the prenatal diagnosis. The postnatal clinical manifestations of three live births were macrosomia and macroglossia, two of whom exhibited acromphalus.Conclusion:BWS should be considered when fetal overgrowth, visceral enlargement, macroglossia, and acromphalus are found by prenatal ultrasound.
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Objective:To investigate the value of ultrasonography in diagnosis of transposition of great arteries of the fetus at 11-13 + 6 weeks gestation. Methods:A prospective study was conducted on fetuses screened by ultrasound in the first trimester in Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region between January 2015 and March 2022. Fetal heart structure was screened by three-section screening method. Fetuses with suspected transposition of the great arteries at 11-13 + 6 weeks gestation underwent followed-up ultrasound examination, chromosome and gene test results. The ultrasound characteristics and prognosis pregnancy outcomes were summarized. Results:Twenty-one cases of transposition of the great arteries were detected by ultrasonography, including complete transposition of great arteries (20 cases) and congenitaly corrected transposition of the great arteries (1 case). Two cases were miss diagnosed. Twenty-one cases showed parallel signs of two major arteries on grayscale outflow section at 11-13 + 6 weeks gestation. There were 6 cases with aneuploid ultrasonographic soft markers abnormality, 2 cases with extracardiac malformation. Chromosome and microarray analysis were performed in 13 cases. 4 cases with chromosomal abnormality. Four cases of chromosomal abnormalities were associated with ultrasonographic soft markers abnormality, and 1 case with extracardiac malformation.In the 23 cases, 20 cases were induced, 1 miscarried, and 2 delivered to term. Among the fetuses delivered at term, 1 case died before neonatal operation and 1 case survived. Conclusions:Standardized ultrasound scan at 11-13 + 6 weeks has high accuracy in diagnosis of transposition of the great arteries. And the incidence of chromosomal abnormality is high with ultrasonographic soft markers abnormality or extracardiac malformation.
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Objective:To screen the ultrasound markers of predictive value at 11-13 + 6 weeks for selective fetal growth restriction (sFGR) in monochorionic (MC) twins. Methods:A retrospective analysis of MC twin pregnancies collected prospectively from June 2020 to December 2021 at Beijing Obstetrics and Gynecology Hospital, Capital Medical University, with standardized ultrasound examinations performed at 11-13 + 6 weeks.According to the expert consensus on the diagnostic criteria for sFGR, collected MC twin pregnancies were divided into sFGR group and control group (normal MC twin group). Maternal age, maternal history, mode of conception, the incidence of increased nuchal translucency (NT) thickness, NT discordance, crown-rump length (CRL) discordance, abnormal ductus venous Doppler waveform and abnormal umbilical cord insertion position were compared between the two groups, and those markers that differed between groups were further analyzed for screening early ultrasound markers that could be used to predict sFGR. Results:A total of 106 cases were included in the analysis, 30 cases in sFGR group and 76 cases in control group. ①Compared with control group, sFGR group had a higher incidence of low fetal birth weight (below the 10th and 3rd percentile) in both surviving cases, large birth weight discordance and a higher incidence of birth weight inconsistency (difference >25%) ( P<0.001). ②Compared with control group, the CRL discordance was larger in sFGR group [7.8% (3.8%, 9.2%) versus 3.8% (1.5%, 7.2%)] and the incidence of abnormal cord insertion position (33.3% versus 6.6%) was higher, the differences were statistically significant ( P=0.004 and <0.001, respectively), whereas the differences of NT discordance, incidence of increased NT and abnormal ductus venous Doppler waveform were not statistically significant (all P values >0.05). ③CRL discordance was a risk factor for sFGR ( OR=1.136, 95% CI=1.021-1.264), with an area under the ROC curve of 0.682 (95% CI=0.576-0.787) for predicting sFGR, the sensitivity and specificity were 0.567 and 0.737 at a cut-off value of 6.5%. Abnormal umbilical cord insertion position was a risk factor for sFGR ( OR=7.100, 95% CI=2.176-23.167) with a sensitivity of 0.333 and specificity of 0.934 for predicting sFGR. Conclusions:CRL discordance and abnormal cord insertion position are risk factors for the development of sFGR and are of value in predicting sFGR in MC twins.