Predictors of metastasis in cervical indeterminate lymph nodes after thyroid cancer ablation by long-term ultrasound follow-up.

OBJECTIVES: To investigate the pattern of change over time and predictors for metastasis in indeterminate lymph nodes (LNs) among patients with thyroid cancer post-ablation. METHODS: We enrolled patients who developed new cervical LNs after papillary thyroid carcinoma (PTC) ablation. Changes in the ultrasound characteristics of the indeterminate LN were recorded at months 1, 3, 6 and 12 after ablation. LN puncture pathology and long-term follow-up were standard of diagnosis. The indeterminate LNs were divided into benign and malignant groups, the differences between the two groups were compared, and the risk characteristics of malignant LNs were screened using generalized estimating equations (GEE). RESULTS: In total, we included 138 LNs from 99 patients, of which 48 were indeterminate LNs. When following up indeterminate LNs, non-cervical lymph node metastasis (non-CLNM) lesions demonstrated a statistically significant gradual decrease in volume (p = 0.012), though there was no significant change in the volume of CLNM lesions (p = 0.779). Compared to non-CLNM lesions, the diagnostic efficiency was the highest for CLNM lesions at 1-3 months after ablation, when the LN volume changed by -0.08 to 0.12 mL (p = 0.048). The third month after ablation became an important time point for review. Moreover, GEE analysis showed that microcalcifications, cystic changes, and vascularity were strongly associated with CLNMs (p = 0.004, p = 0.002, and p = 0.010, respectively). CONCLUSIONS: There is a pattern of volume change of indeterminate LNs after PTC ablation, which, together with microcalcifications, cystic changes, and vascularity, can be used as criteria for differentiating the benignity and malignancy of indeterminate LNs.

A Deep Learning Model System for Diagnosis and Management of Adnexal Masses.

Appropriate clinical management of adnexal masses requires a detailed diagnosis. We retrospectively collected ultrasound images of 1559 cases from the first Center of Chinese PLA General Hospital and developed a fully automatic deep learning (DL) model system to diagnose adnexal masses. The DL system contained five models: a detector, a mass segmentor, a papillary segmentor, a type classifier, and a pathological subtype classifier. To test the DL system, 462 cases from another two hospitals were recruited. The DL system identified benign, borderline, and malignant tumors with macro-F1 scores that varied from 0.684 to 0.791, a benefit to preventing both delayed and overextensive treatment. The macro-F1 scores of the pathological subtype classifier to categorize the benign masses varied from 0.714 to 0.831. The detailed classification can inform clinicians of the corresponding complications of each pathological subtype of benign tumors. The distinguishment between borderline and malignant tumors and inflammation from other subtypes of benign tumors need further study. The accuracy and sensitivity of the DL system were comparable to that of the expert and intermediate sonographers and exceeded that of the junior sonographer.

PLGA-Au-PFH-NPs-based Ultrasound Imaging in Detecting Fetal Spinal Deformities.

The study focused on the performance of ultrasound imaging in detecting fetal spinal deformities. First, the double emulsification method and the carbodiimide method were used to prepare the target Au-loaded nanorod phase-change nano-level contrast agent-PLGA-Au-PFH-NPs. After being characterized for physical and chemical properties, it was used in ultrasound imaging diagnosis. The results showed that the prepared PLGA-Au-PFH-NPs solution was a milky white suspension, the particle size detected by the laser particle sizer was (376.17±20.74) nm, and the Zeta potential was (-4.82±2.88) mV. Under the light microscope, it showed a spherical shape, uniform size distribution, and a very smooth surface. The encapsulation rate measured by the UV spectrophotometer was (80.63±4.82) %, and there was no significant difference in cell survival rate between different concentrations (P>0.05). Prenatal ultrasound in the observation group accurately diagnosed 10 cases with spinal deformities, and the diagnostic accuracy rate was 50%, including 5 cases of meningocele, 3 cases of invisible spina bifida, 1 case of myelomeningocele, and 1 case of hemivertebrae. In the control group, 7 cases were diagnosed correctly by conventional ultrasound, and the diagnosis accuracy rate was 35%, including 3 cases of meningocele, 3 cases of invisible spina bifida, and 1 case of hemivertebra. The diagnostic accuracy of the observation group was higher than that of the control group, and the difference was statistically significant (P<0.05). In conclusion, the prepared PLGA-Au-PFH-NPs had good physical and chemical properties. Ultrasound imaging based on the PLGA-Au-PFH-NPs had high accuracy in diagnosing fetal spinal deformities. To a certain extent, it provides a basis for clinical diagnosis of fetal spinal abnormality and some new ideas for ultrasound imaging diagnosis.

[Comparison between Ultrasonography and CT in Diagnosis of Cervical Lymph Node Metastasis of Papillary Thyroid Carcinoma].

Objective To evaluate the efficacy of ultrasound and computed tomography (CT) in diagnosing cervical lymph node metastasis (CLNM) of papillary thyroid carcinoma (PTC). Methods The patients with PTC treated by surgery in the Chinese PLA General Hospital from January 2016 to January 2021 were selected for analysis.All the patients underwent preoperative ultrasound and CT examinations,the diagnostic values of which for CLNM were retrospectively analyzed. Results A total of 322 PTC patients were enrolled in this study,including 242 with CLNM and 80 with non-CLNM.The CLNM group and non-CLNM group had significant differences in age,tumor size,and maximum size of lateral CLNM (χ2=20.34,27.34,and 4.30,respectively,all P<0.001).For the central compartment,lateral compartment,and overall compartment,ultrasound diagnosis showed higher sensitivity (χ 2=82.26,P<0.001;χ2=114.01,P<0.001;χ2=82.26,P<0.001) and accuracy (χ2=20.27,P<0.001;χ2=15.56,P<0.001;χ2=44.00,P<0.001) than CT,and had no significant differences from ultrasound combined with CT (all P>0.05).However,ultrasound diagnosis had lower specificity than CT (χ2=17.01,P<0.001;χ2=21.29,P<0.001) in the central compartment and lateral compartment.Receiver operating characteristic curve analysis showed that in the central compartment,lateral compartment,and overall compartment,ultrasound diagnosis had larger AUC than CT (Z=2.99,P=0.003;Z=3.86,P<0.001;Z=4.47,P<0.001) and had no significant difference from ultrasound combined with CT (Z=1.87,P=0.062;Z=1.68,P=0.093;Z=1.61,P=0.107). Conclusions Ultrasound and CT have their own advantages in the diagnosis of central and lateral CLNM.In general,ultrasound has better performance than CT in the diagnosis of CLNM.

Whole-exome sequencing analysis to identify novel potential pathogenetic mutations in fetuses with abnormal brain structure.

BACKGROUND: Genetic mutations in genes related to the production, migration, or differentiation of cortical neurons can result in malformations of cortical development (MCDs). However, a large number of MCD-related pathogenetic mutations remain unknown. This study aimed to investigate the genetic cause of MCDs and to identify the new MCD-associated mutations through whole-exome sequencing (WES) in fetuses with abnormal brain structure. METHODS: Cord venous blood samples were collected from 11 fetuses with MCDs. Whole-genome DNA was extracted from the blood, and WES was performed. Single nucleotide substitutions, insertions, and deletions were detected by bioinformatics analysis. Genetic mutations in genes associated with MCD were identified. RESULTS: A total of 1035 genes with high-impact genetic variants in at least 1 fetus were identified. The results of gene ontology enrichment analysis were consistent with those of previous studies and also indicated new potential MCD-related pathogenetic genetic mutations. Genes with high-impact mutations in multiple fetuses, such as CTDSP2 and C-terminal binding protein 2 (CTBP2), were more likely to be the genes affecting normal brain development. CONCLUSIONS: This study has characterized variations in fetuses with MCDs and identified potential genetic mutations causing MCDs. Our findings extend the mutation spectrum of MCDs and provide a promising source for the identification of MCD-related pathogenetic mutations.

Combined exome sequencing and deep phenotyping in highly selected fetuses with skeletal dysplasia during the first and second trimesters improves diagnostic yield.

OBJECTIVE: To investigate the genetic etiology of skeletal dysplasia in highly selected fetuses during the first and second trimesters using deep phenotyping and exome sequencing (ES). METHOD: Fetuses with short femurs were identified using the established prenatal diagnostic approach. A multidisciplinary team reviewed fetal phenotypic information (prenatal ultrasound findings, fetal postmortem, and radiographs) in a cohort of highly selected fetuses with skeletal dysplasia during the first and second trimesters. The affected families underwent multiplatform genetic tests. RESULTS: Of the 27 affected fetuses, 21 (77.8%) had pathogenic or potential pathogenic variations in the following genes: COL1A1, FGFR3, COL2A1, COL1A2, FLNB, DYNC2LI1, and TRIP11. Two fetuses had compound heterozygous mutations in DYNC2LI1 and TRIP11, respectively, and the other 19 carried de novo autosomal dominant variants. Novel variants were identified in COL1A1, COL2A1, COL1A2, DYNC2LI1, and TRIP11 in 11 fetuses. We also included the first description of the phenotype of odontochondrodysplasia in a prenatal setting. CONCLUSIONS: ES or panel sequencing offers a high diagnostic yield for fetal skeletal dysplasia during the first and second trimesters. Comprehensive and complete phenotypic information is indispensable for genetic analysis and the expansion of genotype-phenotype correlations in fetal skeletal abnormalities.

Whole-exome sequencing identified two novel mutations of DYNC2LI1 in fetal skeletal ciliopathy.

BACKGROUND: Skeletal ciliopathies are a group of clinically and genetically heterogeneous disorders with the spectrum of severity spanning from relatively mild to prenatally lethal. The aim of our study was to identify pathogenic mutations in a Chinese family with two siblings presenting a Short-rib polydactyly syndrome (SRPS)-like phenotype. METHOD: Karyotyping and NGS-based CNVseq were performed. Obtaining the negative results in karyotyping and CNVseq, whole-exome sequencing (WES) using genomic DNA (gDNA) extracted from the umbilical cord blood of the first fetus was carried out, followed by bioinformation analysis. The candidate pathogenic variants were confirmed by Sanger sequencing in the family. RESULTS: No chromosomal abnormalities and pathogenic copy number variations (CNVs) were detected in the affected fetus with SRPS-like phenotype. WES analysis identified two novel compound heterozygous variants in DYNC2LI1, c.358G>T (p.Pro120Ser; NM_001193464), and c.928A>T (p.Lys310Ter; NM_ 001193464). Bioinformatics analysis suggested that c.358G>T (p.Pro120Ser) was likely pathogenic and c.928A>T (p.Lys310Ter) was pathogenic. Sanger sequencing of the two variants in family reveal that c.358G>T was from paternal origin and c.928A>T was from maternal origin, and the second affected fetus had the same compound heterozygous variants in DYNC2LI1. Definitive diagnosis of short-rib thoracic dysplasia 15 with polydactyly (SRTD15) was made in the family. CONCLUSION: Our results expand the mutational spectrum of DYNC2LI1 in severe skeletal ciliopathies. WES facilitates the accurate prenatal diagnosis of fetal skeletal ciliopathy, and provides helpful information for genetic counseling.

Two novel TCTN2 mutations cause Meckel-Gruber syndrome.

Meckel-Gruber syndrome (MKS) is a clinically and genetically heterogeneous ciliopathy characterized by a triad of occipital encephalocele, polycystic kidneys, and postaxial polydactyly. Pathogenesis of MKS is related to dysfunction of primary cilia. However, reports on MKS caused by Tectonic2 (TCTN2) mutations are scanty whilst. There is no direct evidence of ciliogenesis in such MKS patients. Here, we identified two novel nonsense variants of TCTN2 (c.343G > T, p.E115*; c.1540C > T, p.Q514*) in a Chinese MKS fetus. Compared to reported TCTN2-causing MKS patients, our case represented an endocardial pad defect, which was not reported previously. We also found primary cilia protruded normally from the surface of epithelial cells in the affected fetal kidney tubules compared to controls, indicating TCTN2 is not necessary for ciliogenesis in the kidney. To our knowledge, this is the first case of MKS fetus caused by TCTN2 mutations from China.

Two novel mutations of COL1A1 in fetal genetic skeletal dysplasia of Chinese.

BACKGROUND: Skeletal disorders, which have great genotypic and phenotypic varieties, are a considerable challenge to differentiate these diseases and provide a definitive prenatal diagnosis or pre-implantation. The present study aims to identify the causative mutation in two unrelated outbred Han-Chinese families. METHOD: Two short-limb fetuses were referred to our hospital. Genomic DNA was extracted from the amniotic fluid of the short-limb fetuses and from peripheral blood of their parents. To identify the causative gene, next-generation-based target capture sequencing was performed on these two fetuses, followed by Sanger Sequencing in unrelated healthy controls. Segregation analysis of the candidate variant was performed in parents by using Sanger sequencing. The mutations were analyzed by SIFT, PolyPhen and Provean. RESULTS: We found that fetal genetic skeletal dysplasia was confirmed according to the correlations between genetic mutations and phenotypes in two Chinese families. Targeted next generation sequencing was performed to screen causative mutations in patients. Two novel heterozygous mutations COL1A1 c.1706 G > C (p. G569A) and c.3307 G > A (p. G1103S) were respectively identified. The results suggested that COL1A1 novel mutations were in highly conserved glycine residues present in the Gly-X-Y sequence repeats of the triple helical region of the collagen type I α chain, which was responsible for Osteogenesis Imperfecta. The presence of the missense mutation was also confirmed with the Sanger sequence. These two mutations were predicted to be pathogenic by SIFT, PolyPhen and Provean. CONCLUSION: Our findings showed that the mutations of COL1A1 may play important roles in fetal genetic skeletal dysplasia in Chinese patients. Exome sequencing enhances the accurate diagnosis in utero then provides appropriate genetic counseling.

Ultrasound-guided local methotrexate treatment for cesarean scar pregnancy in the first trimester: 12 years of single-center experience in China.

OBJECTIVE: To investigate the efficacy and safety of ultrasound-guided local injection of methotrexate (MTX) in the treatment of cesarean scar pregnancy (CSP) diagnosed in the first trimester. STUDY DESIGN: The clinical and imaging data of 101 CSP patients who received ultrasound-guided local injection of MTX in our hospital between January 2007 and December 2018 were retrospectively analyzed. The decline in serum ß human chorionic gonadotropin (ßHCG) level, size and blood flow of lesions, vaginal bleeding, liver/kidney functions, and other indicators were observed or tested after treatment on a weekly basis. RESULTS: The duration of amenorrhea was 6.1 ±â€¯0.8 weeks (range: 5.7-8.1 weeks) and the initial serum ßHCG level was 20,321 ±â€¯965 U/L in 97 patients, The mean time t to ßHCG normalization was 40 ±â€¯14 days (range: 21-140 days), Minor intermittent vaginal bleeding occurred after local MTX injection, lasting 25 ±â€¯17 days (range: 10-61 days), and the lesions at the scar sites had completely disappeared with an average interval of 39 ±â€¯29 days ; The treatment failed in four patients. The average duration of amenorrhea was 7.5 weeks and the average initial serum ßHCG level was 91,359 U/L. CONCLUSION: Ultrasound-guided local injection of MTX is an effective and minimally invasive treatment for CSP. However, it is not feasible for patients with long-term amenorrhea (>8 weeks) and markedly increased blood ßHCG level.

Quantitative diagnostic advantages of three-dimensional ultrasound volume imaging for fetal posterior fossa anomalies: Preliminary establishment of a prediction model.

OBJECTIVES: To quantitatively assess prenatal diagnostic performance of three-dimensional ultrasound (3D-US) for posterior fossa anomalies (PFA) and establish a preliminarily 3D-US prediction model. METHODS: Sixty singleton fetuses suspected of PFA by 2D-US presented their detailed 3D-US evaluation. The surface area of vermis (SAV), brainstem-vermis, and brainstem-tentorium angles were measured by 3D-US. The good prognosis was defined as normal neurodevelopmental outcome. MRI and autopsy were the diagnostic reference standard. RESULTS: There was a significant difference between 2D-US (60.0%, 36/60) and 3D-US (94.8%, 55/58) for the diagnostic accuracy (P < .01). Prenatal 3D-US prediction model was established with observed/expected SAV as the main predictor (area under the curve [AUC]: 0.901; 95% CI, 0.810-0.992, P < .001). When it was more than 107.5%, the prognosis seemed to be good (sensitivity: 96.4%, specificity: 26.7%), which led to consideration of mega cisterna magna, Blake pouch cyst, or small arachnoid cyst. The prognosis appeared to be poor when it was less than 73% (sensitivity: 71.4%, specificity: 100%), and the diagnosis tended to be a Dandy-Walker malformation, vermian hypoplasia, and cerebellar hypoplasia. Brainstem-vermis and brainstem-tentorium angles were the secondary indicators (AUC: 0.689 vs 0.761; 95% CI, 0.541-0.836 vs 0.624-0.897, P = .014 vs.001). CONCLUSIONS: It seems that the exact types of PFA can be effectively diagnosed by quantitative indicators of 3D-US.

Correlations of p53 expression with transvaginal color Doppler ultrasound findings of cervical cancer after radiotherapy.

PURPOSE: To investigate the correlations of p53 expression with transvaginal color Doppler ultrasound findings of cervical cancer after radiotherapy (RT). METHODS: A total of 78 patients with cervical cancer (stage II and III) treated in the Oncology Department of our hospital from March 2011 to September 2017 were enrolled, and another 10 normal cervical tissue specimens were taken from the Pathology Department as controls. RT was performed to the 78 enrolled patients. Morphological features of tumor tissues after RT were detected via hematoxylineosin (HE) staining, the mutant p53 protein level was detected via immunohistochemistry (IHC), and imaging signs and blood flow resistance index (RI) of cervical cancer were detected via transvaginal color Doppler ultrasound. Finally, the correlations of p53 protein with transvaginal color Doppler ultrasound findings were analyzed. RESULTS: After RT, most cervical cancer tissues showed nuclear degeneration, karyolysis, cytoplasmic keratosis (vacuolization), and regeneration and fibrosis of cancer tissues. The expression of p53 was negative in normal cervix, while there were 48 p53-positive cases (61.54%) and 30 p53-negative cases (38.46%) in patients with cervical cancer (p<0.05). No echo was detected in 2 out of 78 patients, and there were 4 cases of equal echo, 36 cases of low echo and 36 cases of high echo. Results of x2 test showed that the positive rate of p53 protein was significantly correlated with cervical space-occupying lesion and mass diameter shown in transvaginal color Doppler ultrasound (p<0.05), but it had no significant correlation with pelvic lymph node metastasis (p>0.05). The p53 protein expression level was significantly correlated with color Doppler flow imaging (CDFI) grading and RI (p<0.05). CONCLUSIONS: The p53 protein expression in cervical cancer after RT is significantly correlated with cervical space-occupying lesion and tumor size shown in transvaginal color Doppler ultrasound, CDFI grading and RI. p53 level and transvaginal color Doppler ultrasound can provide certain valuable clinical information for the treatment and monitoring of cervical cancer.

A quantitative cSMART assay for noninvasive prenatal screening of autosomal recessive nonsyndromic hearing loss caused by GJB2 and SLC26A4 mutations.

PurposeThe aim of this study was to assess the performance of a noninvasive prenatal screening (NIPS) assay for accurate fetal genotyping of pregnancies at genetic risk for autosomal recessive nonsyndromic hearing loss (ARNSHL).MethodsA total of 80 pregnant couples carrying known mutations in either the GJB2 or SLC26A4 genes associated with a risk for ARNSHL were recruited to the study. Fetal amniocyte samples were genotyped by invasive prenatal screening (IPS), whereas the cell-free fetal DNA present in maternal plasma samples was genotyped using a novel NIPS method based on circulating single-molecule amplification and resequencing technology (cSMART).ResultsIPS of the 80 at-risk pregnancies identified 20 normal homozygote, 42 heterozygote, 5 affected homozygote, and 13 affected compound heterozygote fetuses. Benchmarking against IPS, 73 of 80 fetuses (91.3%) were correctly genotyped by the cSMART NIPS assay. A low fetal DNA fraction (<6%) was identified as the main contributing factor in five of seven discordant NIPS results. At fetal DNA fractions >6%, the sensitivity and specificity of the cSMART assay for correctly diagnosing ARNSHL were 100 and 96.5%, respectively.ConclusionBased on key performance indicators, the cSMART NIPS assay has clinical potential as an alternative to traditional IPS of ARNSHL.

The effects of lauromacrogol injection into rat endometrial cysts: a preliminary experimental study.

OBJECTIVE: To determine the effectiveness of different concentrations of lauromacrogol injections for the treatment of endometriosis in an experimental animal model and to provide an experimental basis for a pre-clinical application of the drug. METHODS: After autologous transplantation of endometrial tissue, 40 endometrial cysts were successfully established and randomly divided into three groups: a 1 % lauromacrogol injection group, a 0.5 % lauromacrogol injection group, and cysts without intervention (control group). We measured the changes in the volumes of the cysts in each group. We then compared the volumes of the endometrial implants before and after treatment and between the different groups and examined the histological findings. RESULTS: A significant difference in the spherical volume was found between the 1 % lauromacrogol injection group (P < 0.05). No significant difference was observed between the volume of the endometrial implants in the 0.5 % lauromacrogol injection group (P > 0.05). Regarding the histopathological observations, in the 1 % lauromacrogol injection group, the epithelia of the cystic implants had atrophied, and the glands had atrophied and were reduced in number. The surrounding stromal tissue had become loose and edematous. CONCLUSIONS: A 1 % lauromacrogol injection produced significant regression of the endometrial foci compared with a 0.5 % lauromacrogol injection or no treatment in a rat model of endometriosis.

A missense mutation in TMEM67 causes Meckel-Gruber syndrome type 3 (MKS3): a family from China.

Meckel-Gruber syndrome (MKS) is a lethal autosomal recessive condition characterized by renal cysts and variably associated features, including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. Genetic heterogeneity has been demonstrated at eleven loci, MKS1-11. Here, we present the clinical and molecular characteristics of a Chinese MKS3 family with occipital encephalocele and kidney enlargement. DNA sequencing of affected fetuses revealed a homozygous c.1645C>T substitution in exon 16 of TMEM67, leading to a p.R549C substitution in meckelin. The R549 residue is highly conserved across human, rat, mouse, zebrafish, chicken, wolf and platypus genomes. Hha I restriction analysis demonstrated that the c.1645C>T mutation was absent in 200 unrelated control chromosomes of Chinese background, supporting the hypothesis that it represents causative mutation, not rare polymorphism. Our data provide additional molecular and clinical information for establishing a better genotype-phenotype understanding of MKS.

Advanced abdominal pregnancy: an increasingly challenging clinical concern for obstetricians.

Advanced abdominal pregnancy is rare. The low incidence, high misdiagnosis rate, and lack of specific clinical signs and symptoms explain the fact that there are no standard diagnostic and treatment options available for advanced abdominal pregnancy. We managed a case of abdominal pregnancy in a woman who was pregnant for the first time. This case was further complicated by a concurrent singleton intrauterine pregnancy; the twin pregnancy was not detected until 20 weeks of pregnancy. The case was confirmed at 26 weeks gestational age using MRI to be an abdominal combined with intrauterine pregnancy. The pregnancy was terminated by cesarean section at 33 + 5 weeks gestation. We collected the relevant data of the case while reviewing the advanced abdominal pregnancy-related English literature in the Pubmed, Proquest, and OVID databases. We compared and analyzed the pregnancy history, gestational age when the diagnosis was confirmed, the placental colonization position, the course of treatment and surgical processes, related concurrency rate, post-operative drug treatment programs, and follow-up results with the expectation to provide guidance for other physicians who might encounter similar cases.

[Detection of fetal chromosomal aneuploidy in pregnant women at advanced maternal age during the first trimester].

OBJECTIVE: To investigate the value of maternal plasma cell-free fetal DNA (cff-DNA) examination in detection of fetal chromosomal aneuploidy in pregnant women at advanced maternal ages during the first trimester of pregnancy. METHODS: A total of 136 pregnant women (11 to 13+6 gestational weeks) with advanced maternal ages were screened for fetal chromosomal aneuploidy with ultrasound and maternal plasma cff-DNA examination during March 1, 2011 to August 31, 2013, and the results were then confirmed by karyotype analysis and fluorescence in situ hybridization (FISH). RESULTS: Of the 136 women examined, cff-DNA screening detected chromosomal aneuploidy in 5 cases, including trisome-21 in 3 cases, trisome-18 in 1 case, and 45,X in 1 case as confirmed subsequently by karyotype analysis. Ultrasound screening reported a normal finding in one case of trisomy-21, thickening of the NT in the case of trisomy-18, and fetal anasarca in the case of 45,X. Karyotype analysis and follow-up of the women did not find chromosomal abnormality in the 131 negative cases screened by cff-DNA detection. CONCLUSION: Screening of material plasma cff-DNA allows accurate and early detection of fetal chromosomal aneuploidy in women of advanced maternal ages to avoid unnecessary invasive antenatal examinations.

Role of preoperative sonography in the diagnosis and pathologic staging of pseudomyxoma peritonei.

OBJECTIVES: The purpose of this study was to analyze the sonographic features of pseudomyxoma peritonei and the ability of preoperative sonography to assess the pathologic grades of this disease. METHODS: Nineteen patients with pseudomyxoma peritonei who underwent preoperative sonographic examinations were included (9 male and 10 female; age range, 31-70 years). Four patients presented with disseminated peritoneal adenomucinosis, 7 with peritoneal mucinous carcinomatosis with intermediate or discordant features (intermediate-grade disease), and 8 with peritoneal mucinous carcinomatosis. The sonographic characteristics, clinical features, and serum tumor marker levels were recorded and compared among the 3 grades. RESULTS: Clinical symptoms and carcinoembryonic antigen, cancer antigen 125 (CA-125), CA-19-9, CA-724, and CA-153 levels were not significantly different among the 3 pathologic grades (P > .05). Ascites, scalloping of the visceral margin, invasive parenchymal nodules, and peritoneal masses were detected in all grades. Disseminated peritoneal adenomucinosis occurred without the finding of an omental cake. The presence of enlarged lymph nodes was more common in peritoneal mucinous carcinomatosis. The diagnosis of pseudomyxoma peritonei was made by preoperative sonography in 1 case. Four cases were diagnosed as ovarian mucinous cystadenoma with rupture. One case was diagnosed as a mucinous appendiceal cyst. Four cases were diagnosed as ascites or encapsulated effusion. One case was misdiagnosed as lymphoma. The others were diagnosed as celiac masses. CONCLUSIONS: Preoperative sonography can be used to diagnose pseudomyxoma peritonei as long as radiologists are familiar with the imaging features. Although there are overlaps in the sonographic findings among the different grades, some features may aid in separating them.

Safety and efficacy of US-guided high-intensity focused ultrasound for treatment of submucosal fibroids.

OBJECTIVES: To evaluate the safety and efficacy of US-guided high-intensity focused ultrasound (HIFU) ablation for the treatment of submucosal fibroids METHODS: A total of 76 women with 78 submucosal uterine fibroids (68 type II fibroids, 10 type I fibroids) underwent US-guided HIFU ablation. The pretreatment fibroid diameter ranged from 2.4 to 13.5 cm (mean 5.7 ± 2.3 cm). The fibroids were ablated using a power output of 420-520 W. During follow-up, the volume shrinkage of the ablated fibroids was continuously observed on contrast-enhanced MR and/or contrast-enhanced ultrasound (CEUS). The change of symptoms was evaluated by using the symptom severity score questionnaire. RESULTS: HIFU ablation was well tolerated in all patients. No major complications occurred. The mean nonperfused ablation ratio was 80 ± 12 % on CEUS. During follow-up, the ablated fibroids shrank significantly over time. The symptoms were alleviated significantly. No patients had amenorrhoea after treatment. Vaginal expulsion of necrotic tissue was seen in 58 % (44/76) of patients after HIFU ablation which disappeared after 2-4 menstrual cycles. Four patients received repeated HIFU ablation for enlarged residual fibroids. CONCLUSIONS: US-guided HIFU ablation may be a safe and effective treatment for submucosal fibroids. Further studies are warranted to observe its influence on fertility. KEY POINTS : • High-intensity focused ultrasound (HIFU) is a new minimally invasive therapeutic technique. • HIFU ablation may be safe and effective for treatment of submucosal fibroids • Treatment is minimally invasive and repeatable. • Vaginal expulsion of necrotic tissue is common after treatment.

[Prenatal genetic test and clinical guidance for 213 hereditary deaf families].

OBJECTIVE: To summarize the workflow, strategy and experience of prenatal genetic test for deafness based on the 6-year clinical practice. METHODS: There were 213 families who received prenatal test from 2005 to 2011. Among the 213 families, 205 families had had one deaf child, including 204 couples with normal hearing and one couple of the deaf husband and normal wife, 8 families including 6 couples with normal hearing and 2 deaf couples, had no child before test. Genomic and mitochondrial DNA of each subject was extracted from whole blood. The etiology and recurrent risks in 212 families were confirmed by means of the genetic test of GJB2, SLC26A4 and mtDNA 12sRNA, but one family carried POU3F4 c.647G > A heterozygous mutation causing X-linked hereditary hearing impairment confirmed by pedigree study. The prenatal test was carried out during the pregnancy of all mothers from 11 to 30 weeks, and the following genetic information and counseling were supplied based on the results. RESULTS: The recurrent risk was 25% in 209 families, including 204 families with one deaf child and 5 families without child, among which all couples were GJB2 or SLC26A4 mutation carriers and deaf children were caused by homozygous or compound GJB2/SLC26A4 mutations; The recurrent risk was 50% in 3 families, the father and his child in one family had compound SLC26A4 mutations and the mother with heterozygous SLC26A4 mutation, the wife had POU3F4 c.647G > A heterozygous mutation in another one family, and the husband with compound SLC26A4 mutations and the wife with mtDNA A1555G mutation and heterozygous SLC26A4 mutation simultaneously happened in the rest one family; The recurrent risk was 100% in one family of the deaf couple who were both found to carry homozygous or compound GJB2 mutations, and the deaf wife got pregnant by artificial insemination with the sperm from the local Human Sperm Bank. 226 times of prenatal test were applied in all 213 families that 11 families of them received prenatal test twice, and one family received three times. 46 times of prenatal testing showed that the fetuses carried parental mutations simultaneously or the same mutations with probands; while 180 times of prenatal test showed that the fetuses carried only one parental mutation or did not carry any mutation from parents. The following visit showed that all of these 180 families had given birth to babies who were all revealed to have normal hearing by new born hearing screening test. CONCLUSIONS: Prenatal diagnosis for deafness assisted by genetic test can provide efficient information about offspring's hearing condition, and the normative workflow and precise strategy highly guarantee the safe and favorable implementation of prenatal diagnosis.