The routine assessment to determine the genetic etiology for fetal ultrasound anomalies follows a sequential approach, which usually takes about 6–8 weeks turnaround time (TAT). We evaluated the clinical utility of simultaneous detection of copy number variations (CNVs) and single nucleotide variants (SNVs)/small insertion-deletions (indels) in fetuses with a normal karyotype with ultrasound anomalies. We performed CNV detection by chromosomal microarray analysis (CMA) or low pass CNV-sequencing (CNV-seq), and in parallel SNVs/indels detection by trio-based clinical exome sequencing (CES) or whole exome sequencing (WES). Eight-three singleton pregnancies with a normal fetal karyotype were enrolled in this prospective observational study. Pathogenic or likely pathogenic variations were identified in 30 cases (CNVs in 3 cases, SNVs/indels in 27 cases), indicating an overall molecular diagnostic rate of 36.1% (30/83). Two cases had both a CNV of uncertain significance (VOUS) and likely pathogenic SNV, and one case carried both a VOUS CNV and an SNV. We demonstrated that simultaneous analysis of CNVs and SNVs/indels can improve the diagnostic yield of prenatal diagnosis with shortened reporting time, namely, 2–3 weeks. Due to the relatively long TAT for sequential procedure for prenatal genetic diagnosis, as well as recent sequencing technology advancements, it is clinically necessary to consider the simultaneous evaluation of CNVs and SNVs/indels to enhance the diagnostic yield and timely TAT, especially for cases in the late second trimester or third trimester.

Background: Accurate estimation of fetal weight is important for prenatal care and for detection of fetal growth abnormalities. Prediction of fetal weight entails the indirect measurement of fetal biometry by ultrasound that is then introduced into formulae to calculate the estimated fetal weight. The aim of our study was to evaluate the accuracy of fetal weight estimation of Chinese fetuses in the third trimester using an automated three-dimensional (3D) fractional limb volume model, and to compare this model with the traditional two-dimensional (2D) model. Methods: Prospective 2D and 3D ultrasonography were performed among women with singleton pregnancies 7 days before delivery to obtain 2D data, including fetal biparietal diameter, abdominal circumference and femur length, as well as 3D data, including the fractional arm volume (AVol) and fractional thigh volume (TVol). The fetal weight was estimated using the 2D model and the 3D fractional limb volume model respectively. Percentage error was defined as (estimated fetal weight - actual birth weight) divided by actual birth weight and multiplied by 100. Systematic errors (accuracy) were evaluated as the mean percentage error (MPE). Random errors (precision) were calculated as ±1 SD of percentage error. The intraclass correlation coefficient (ICC) was used to analyze the inter-observer reliability of the 3D ultrasound measurements of fractional limb volume. Results: Ultrasound examination was performed on 56 fetuses at 39.6 ± 1.4 weeks’ gestation. The average birth weight of the newborns was 3393 ± 530 g. The average fetal weight estimated by the 2D model was 3478 ± 467 g, and the MPE was 3.2 ± 8.9. The average fetal weights estimated by AVol and TVol of the 3D model were 3268 ± 467 g and 3250 ± 485 g, respectively, and the MPEs were − 3.3 ± 6.6 and − 3.9 ± 6.1, respectively. For the 3D TVol model, the proportion of fetuses with estimated error ≤ 5% was significantly higher than that of the 2D model (55.4% vs. 33.9%, p < 0.05). For fetuses with a birth weight < 3500 g, the accuracy of the AVol and TVol models were better than the 2D model (− 0.8 vs. 7.0 and − 2.8 vs. 7.0, both p < 0.05). Moreover, for these fetuses, the proportions of estimated error ≤ 5% of the AVol and TVol models were 58.1 and 64.5%, respectively, significantly higher than that of the 2D model (19.4%) (both p < 0.05). The inter-observer reliability of measuring fetal AVol and TVol were high, with the ICCs of 0.921 and 0.963, respectively. Conclusion: In this cohort, the automated 3D fractional limb volume model improves the accuracy of weight estimation in most third-trimester fetuses. Prediction accuracy of the 3D model for neonatal BW, particularly < 3500 g was higher than that of the traditional 2D model.

Background: Schwannomas are benign usually encapsulated nerve sheath tumors derived from the Schwann cells, and affecting single or multiple nerves. The tumors commonly arise from the cranial nerves as acoustic neurinomas but they are extremely rare in the pelvis and the retroperitoneal area. Retroperitoneal pelvic schwannomas often present with non-specific symptoms leading to misdiagnosis and prolonged morbidity. Case presentation: We report the case of a 59-year-old woman presenting with a feeling of heaviness in the lower abdomen who was found to have a retroperitoneal pelvic schwannoma originating from the right femoral nerve. She had a history of two resections of peripheral schwannomas at four different sites of limbs. After conducting magnetic resonance imaging, this pelvic schwannoma was misdiagnosed as a gynecological malignancy. The tumor was successfully removed by laparoscopic surgery. Pathological analysis of the mass revealed a benign schwannoma of the femoral nerve sheath with demonstrating strong, diffuse positivity for S-100 protein. Conclusions: Although retroperitoneal pelvic schwannoma is rare, it should be considered in the differential diagnosis of pelvic masses, especially in patients with a history of neurogenic mass or the presence of neurogenic mass elsewhere.

Complete non-mosaic trisomy 22 is a fatal chromosomal disorder that only few fetuses can survive over 12 weeks as reported. Prenatal sonographic findings combined with postnatal or postmortem discoveries showed characteristic multi-systematic anomalies. The unborn baby of a 35-year-old pregnant woman was found to have several anomalies during a prenatal sonographic scan, including intrauterine growth retardation, ventricular septal defect, flat facial profile, and unclear bilateral kidney structures. The fetus was diagnosed as having complete non-mosaic trisomy 22 by chromosomal analysis. The pregnancy was terminated at 24 weeks, and autopsy was permitted. Postmortem examinations revealed additional long-sectional spina bifida occulta and imperforate anus. This was the first time a case of spinal cord defect was reported in trisomy 22 fetuses. More attention should be paid to the spinal cord during sonographic examinations in trisomy 22 fetuses.

Rationale: The significant ultrasonic characteristics of amniotic band syndrome (ABS) are the malformations of fetal affected parts and the band—like echoes in amniotic cavity. This article first suggests that the fetal hand adhered to umbilical cord with restricted movement provides some values in the diagnosis of ABS in early gestational weeks especially when the fetal malformation is not obvious and amniotic band is thin and fine. Patient concerns: Two pregnant women had no discomfort and underwent routine ultrasound examination at 11 to 14 gestational weeks. Diagnosis: Only the fetal hand adhered to umbilical cord with restricted movement was detected during the first ultrasound examination at 11∼14 gestational weeks, and the floating band-like echos were detected in the amniotic cavity with follow-up examinations 2 to 3 weeks later. Both of the 2 fetus were diagnosed as ABS by ultrasound Interventions: The two pregnant women underwent the prenatal counseling and were recommended closely follow-up and further examination. Outcomes: Two fetuses died in utero between 17 and 19 weeks. After induction of labor, it was found that the hands and umbilical cord of the fetuses were wrapped by amniotic bands, which was proved pathologically as ABS. Lessons: The adhesion of the fetal hand and umbilical cord is an important ultrasonic sign suggesting ABS with poor prognosis in early pregnancy. We hope that this study can provide some guidance for the early diagnosis of ABS during 11 to 14 week's ultrasound examination.

Background: Congenital portosystemic shunt (CPSS) is a rare vascular malformation which results in anomalous communication between the portal venous system and the systemic vein. The objective of this review is to describe the prenatal ultrasonic characteristics and postnatal outcomes of CPSS diagnosed prenatally, along with providing some suggestions for perinatal monitoring. Materials and methods: A systematic literature search was conducted in PubMed and Ovid electronic databases in a period from January 2012 to May 2024, using the terms: “congenital portosystemic shunt”, “ductus venosus”, “Abernethy malformation” and “umbilical-portal-systemic venous shunt”. All original studies reporting CPSS patients diagnosed prenatally were included. Studies published in languages other than English or studies that did not report the clinical information of patients were excluded. Two reviewers independently screened articles for inclusion and extracted data. Results: A total of 39 studies which included 525 cases were enrolled in the systematic review. Among the included patients, 49 (9%) had umbilical-systemic shunt (USS), 264 (50%) had ductus venosus-systemic shunt (DVSS), 159 (30%) had intrahepatic portal-systemic shunt (IHPSS), 32 (6%) had extrahepatic portal-systemic shunt (EHPSS) and 9 (2%) had mixed shunts which meant that they had more than one type of shunts. There were also 12(3%) patients were excluded because the specific type was not described in the study. CPSS patients could have severe comorbidities such as chromosomal aberrations and cardiovascular malformations. Compared with other groups, fetuses with IHPSS had the lowest incidence of severe comorbidities. Most patients received conservative treatment while interventional and surgical treatments were used for some patients. Conclusion: We suggest that fetuses diagnosed with CPSS should be treated differently according to their types and clinical manifestations. IHPSS patients are more likely to have good outcomes so they may benefit from the “wait-and-see” approach while the other groups deserve closer monitoring. Personalized treatment is essential as CPSS patients can be asymptomatic or have severe complications.