Diagnostic and prognostic role of soft ultrasound markers in prenatal detection and assessment of foetal abnormalities.

Various soft markers can be detected in the ultrasonography of foetuses, which can be related to chromosomal abnormalities and increases the risk of abnormalities, or they can be considered as normal variations that can disappear due to the pregnancy progress. There are different tools to detect chromosomal abnormalities like conventional karyotyping, chromosomal microarray analysis (CMA), single nucleotide polymorphism (SNP) array, non-invasive prenatal test (NIPT), and non-invasive prenatal screening (NIPS). Therefore, in the present study, we aim to assess the accuracy of ultrasonic soft markers in the diagnosis of chromosomal abnormalities such as chromosomal structural abnormalities, aneuploidy, and triploidy, especially Trisomy 21 and Trisomy 18. A systemic literature search was performed using PubMed, Scopus, Google Scholar, and Web of Science. We gathered all articles published before August 2023. We selected English studies such as retrospective and cross-sectional ones that assessed the relationship between ultrasonic soft markers and foetal chromosomal abnormalities. A total of 10 articles with 18,580 cases were included in our systematic review article that assessed the foetal abnormalities and aneuploidies by using conventional karyotyping, SNP array, CMA, and NIPT (or NIPS). Trisomy 21, Trisomy 18, and chromosomal structural abnormalities were the most common abnormalities related to ultrasonic soft markers by karyotyping; however, Trisomy 13, 47, XXY, 45, X, and mosaic chromosomal abnormalities were other abnormalities detected. Results by CMA showed Trisomy 21 and Trisomy 18 as the most common abnormalities in the foetuses also with ultrasonic soft markers, and other abnormalities were pathogenic copy-number variations, Turner (XO), polyploidy, 22q11.2deletion, and Trisomy13, respectively. It was discovered that there is a greater possibility of having pathogenic copy number variations (CNVs) in the groups with multiple ultrasonic soft markers, while foetuses with ultrasonic soft markers have a decreased prevalence of CMA abnormality compared to those who had significant abnormalities or abnormal nuchal translucency. Trisomy 21 was the only abnormality found by NIPT in the groups with 1 and 2 soft markers, while groups with multiple soft markers were all normal. By using SNP array, it was identified that the rate of chromosomal abnormalities such as aneuploidy and triploidy, LOH, and CNVs was lower in the group with a single ultrasonic soft marker compared to the group with structural abnormalities in multiple systems. Trisomy 21, Trisomy 18, and chromosomal structural abnormalities were the most common chromosomal abnormalities that ultrasound soft markers could diagnose. Therefore, it is recommended to employ soft markers besides CMA, SNP array, and NIPS (or NIPT) for greater accuracy in detecting foetus abnormalities.

Postmortem Magnetic Resonance Imaging of In Utero Fetuses and Its Relationship With Postmortem Interval: A Multi-Organ Observational Study on Reduced Fetuses of Complicated Multiple Pregnancies.

BACKGROUND: Despite technological advancements in perinatal imaging, autopsy examination is still regarded as the reference standard to determine the time and reason of the fetal death. PURPOSE: This study was conducted to identify the intrauterine postmortem magnetic resonance imaging (PMMR) findings of fetuses, who underwent radiofrequency ablation (RFA). STUDY TYPE: Prospective. POPULATION: Fifty-three twin/triplet complicated pregnancies scheduled for selective reduction of one of the fetuses by RFA were included. FIELD STRENGTH/SEQUENCE: The imaging methods used are T1-weighted gradient-echo imaging (T1 GRE), T2 half-Fourier acquisition single-shot turbo spin-echo (SSTSE), and diffusion-weighted imaging (DWI) sequences. ASSESSMENT: The MRIs were interpreted by three radiologists. STATISTICAL TESTS: Data were analyzed using the software package SPSS Statistics Version 22.0. The used tests included one-way analysis of variance (ANOVA) and Duncan tests (significance level: P value <0.05). This analysis was performed with scikit-learn library (version 1.1.1) in Python version 3.9. RESULTS: Average PMMR scores of orbit, brain, and abdomen showed significant differences among different PM interval subgroups. The brain apparent diffusion coefficient (ADC) numbers of reduced and living fetuses were significantly different at any PM interval. To determine which findings are closely associated with the timing of fetal death, five different methods of feature selection were employed. The top eight selected features achieved the highest area under the curve (AUC) of 78.19%. DATA CONCLUSION: In utero, PMMR findings may be associated with the time of fetal death. Among different fetal organs evaluated, particularly PMMR top eight features specifically scores of orbits were associated with PM intrauterine time after death. LEVEL OF EVIDENCE: 2 TECHNICAL EFFICACY: Stage 2.

Diagnostic yield of prenatal exome sequencing in the genetic screening of fetuses with brain anomalies detected by MRI and ultrasonography: A systematic review and meta-analysis.

BACKGROUND: Brain anomalies (BAs) have been the focus of research, as they have a high impact on fetal health but therapeutic and diagnostic approaches are limited. OBJECTIVES: In this study, the application and efficiency of exome sequencing (ES) in detecting different cases of BAs in fetuses were evaluated and compared with chromosomal microarray analysis (CMA). SEARCH STRATEGY: To conduct this study, three databases including PubMed, Web of Science and Embase were utilised with the keywords 'prenatal', 'diagnoses', 'brain anomalies' and 'exome sequencing'. SELECTION CRITERIA: Studies were included based on the STARD checklist, for which the ES and CMA diagnostic yields were calculated. DATA COLLECTION AND ANALYSIS: Meta-analysis was performed on the included studies using a random-effects model and subgroup analysis to define the risk difference between them. MAIN RESULTS: We included 11 studies representing 779 fetuses that implemented ES along with imaging techniques. The pooled ES diagnostic yield in fetuses with BAs detected through magnetic resonance imaging (MRI) and ultrasonography was 26.53%, compared with 3.46% for CMA. The risk difference between ES and CMA for complex BAs was 0.36 [95% confidence interval (CI) 0.24-0.47], which was higher than for single BAs (0.22; 95% CI 0.18-0.25]. CONCLUSIONS: ES is a useful method with a significantly higher diagnostic yield than CMA for genetic assessment of fetuses with complex BAs detected by imaging techniques. Moreover, ES could be applied to suspected fetuses with related family histories to predict congenital diseases with high efficiency.

Prenatally detected congenital medulloblastoma.

We describe a congenital cerebellar mass in a fetus at 30 weeks GA. The lesion is detected at the prenatal third-trimester ultrasound, confirmed by fetal MRI, and determined as medulloblastoma in postmortem pathologic evaluation.

Enhanced myometrial vascularity and AVM: A review on diagnosis and management.

Uterine Arteriovenous malformations (AVM) are vascular disorders characterized by complex high-flow tangles of abnormal vessels connecting arteries and veins with bypassing capillaries. Recently, the terminology applied to describe uterine AVMs has been modified. Most AVMs are acquired. The term enhanced myometrial vascularity (EMV) is used to describe any condition in which any uterine pathology may lead to increased myometrial vascularity regardless of the absence or presence of residual tissue of gestation.

Diagnostic models for the detection of intrauterine growth restriction and placental insufficiency severity based on magnetic resonance imaging of the placenta.

Purpose: We aimed to provide diagnostic models based on different parameters of placental magnetic resonance imaging (MRI) to detect intrauterine growth restriction (IUGR), as well as the severity of placental insufficiency. Material and methods: We included 44 foetuses with appropriate weight for gestational age (AGA) and 46 foetuses with documented IUGR, defined as the estimated foetal weight (EFW) below the 10th centile. Using Doppler ultrasound, IUGR cases were divided into 2 groups: 1) IUGR with severity signs: EFW < 3rd centile, or cerebroplacental ratio < 5th centile, or abnormal umbilical/uterine artery pulsatility index; and 2) non-severe IUGR without any of this criterion. For all these participants, placental MRI was performed in the third gestational trimester, and its parameters were compared between AGA and IUGR, as well as between the severe and non-severe IUGR groups. Two diagnostic models consisting of significant predictors were developed, and their performance was investigated with accuracy metrics. Results: The severity signs were detected in 25 (54.3%) IUGR cases. The diagnostic model for the differentiation of IUGR from AGA revealed an acceptable performance (area under the curve [AUC] of 0.749) and consisted of 2 variables: 1) the largest size of infarct ≥ 25 mm (odds ratio [OR] = 5.01, p = 0.001), and 2) thickness : volume ratio ≥ 0.043 (OR = 3.76, p = 0.027); while, the logistic regression model for detection of the severity signs was even better, with AUC = 0.862, and comprised of 2 predictors: 1) placental infarct percent ≥ 10% (OR = 26.73, p = 0.004), and 2) placental globular shape (OR = 5.40, p = 0.034). Conclusions: Placental MRI parameters can differentiate IUGR from AGA, and more precisely, assess the severity of placental insufficiency in IUGR foetuses.

Ovarian volume, not follicle count, is independently associated with androgens in patients with polycystic ovary syndrome.

BACKGROUND: Polycystic ovary syndrome (PCOS) is diagnosed based on chronic anovulation, androgen excess (clinical and/or biochemical), and polycystic ovaries in ultrasound. The aim of the present study was to evaluate which parameters in the transvaginal ultrasound (TVUS) of ovaries could be better associated with concurrent hormonal imbalance in the women with PCOS. METHODS: Using a cross-sectional design, this study focused on 61 subjects (18-40 years) with PCOS. Patients were recruited at three academic hospitals during the 2017-2019 period. PCOS was defined according to the Rotterdam criteria. The association of ovarian morphology with hormonal and metabolic feature was investigated using linear regression models, adjusted for a set of possible confounding variables including age, mensuration status and body mass index (BMI). RESULTS: The mean volume of both ovaries was positively associated with the total testosterone level (ß = 0.025, P value < 0.001), free androgen index (ß = 0.041, P value < 0.001) and luteinizing hormone/follicle stimulating hormone (LH/FSH) ratio (ß = 0.032, P value = 0.004), even after adjustments made for age, mensuration status and BMI (fully-adjusted model). In contrast, in the fully-adjusted model, antral follicle count (AFC), follicle number per ovary (FNPO), ovarian area, stromal area, and ratio of stromal area to ovarian area (S/A) were not associated with androgen levels and LH/FSH ratio. In addition, after full adjustments, ovarian volume, AFC, FNPO, ovarian area, stromal area and S/A were not associated with insulin resistance, which was estimated by the homeostasis model assessment of insulin resistance (HOMA-IR). CONCLUSION: Increased ovarian volume is, thus, highly predictive of hyperandrogenemia and high LH/FSH ratio in PCOS patients.

A Spectrum of Ultrasound and MR Imaging of Fetal Gastrointestinal Abnormalities: Part 2 Anorectal Malformation, Liver, and Abdominal Wall Anomalies.

Ultrasound (US) and magnetic resonance imaging (MRI) are two modalities for diagnosing fetal gastrointestinal (GI) anomalies. Ultrasound (US) is the modality of choice. MRI can be used as a complementary method. Despite its expanding utilization in central nervous system (CNS) fetal malformation, MRI has not yet been established for evaluation of fetal GI abnormalities. Therefore, more attention should be paid to the clinical implications of MRI investigations following screening by US.

A Spectrum of Ultrasound and MR Imaging of Fetal Gastrointestinal Abnormalities: Part 1 Esophagus to Colon.

Ultrasound (US) and magnetic resonance imaging (MRI) are two modalities for diagnosing fetal gastrointestinal (GI) anomalies. Ultrasound (US) is the modality of choice. MRI can be used as a complementary method. Despite its expanding utilization in central nervous system (CNS) fetal malformation, MRI has not yet been established for evaluation of fetal GI abnormalities. Therefore, more attention should be paid to the clinical implications of MRI investigations following screening by US.

Fetal brain imaging: A comparison between fetal ultrasonography and intra uterine magnetic resonance imaging (a systematic review and meta-analysis).

OBJECTIVE: The aim of this study was to compare ultrasound (US) and intra uterine MRI (IUMRI) of the brain in the diagnosis of fetal brain abnormalities. METHODS: The present systematic review is done based on guidelines for preferred reporting items for systematic reviews and meta-analysis. All major articles comparing fetal US with IUMRI in fetuses with suspected brain abnormalities were qualified. Articles published before 2010 were excluded from the study. An I2  > 20% was considered as a sign of significant change. The statistical analysis was done using STATA -15 and Meta-Disk 1.4 applications. RESULTS: Five articles were considered for meta-analysis. The sensitivity of US and IUMRI in diagnosing fetal abnormalities were 86% and 95%, respectively. The corresponding rates for specificity were 77% and 80%. IUMRI and US were concordant in 72.5% (95% CI: 68%-77%) of diagnoses. However, IUMRI added information in 21.7% of cases, while US added value was only 1.48. CONCLUSION: Our results approved the good diagnostic performance of both US and IUMRI in confirming fetal brain normal development and emphasized that US is an appropriate screening technique in pregnancy. In cases of detected abnormalities in US, IUMRI is suggested as it was the most accurate imaging method and added information about the diagnosis in 22.2% of cases.

Early detection of ischemic brain injuries by diffusion-weighted imaging after radiofrequency ablation for fetal reduction in monochorionic pregnancies.

BACKGROUND: This study aimed to investigate the additional advantages of magnetic resonance imaging (MRI), particularly diffusion-weighted imaging (DWI) over fetal ultrasound in the detection of acute ischemic cerebral injuries in complicated monochorionic (MC) pregnancies that underwent selective reduction by radiofrequency ablation (RFA). METHODS: This prospective cohort study was conducted on 40 women with complicated MC pregnancies who were treated by RFA. Fetal brain imaging by DWI and conventional MRI was performed either in the early (within 10 days after RFA) or late phase (after 3-6 weeks) in the surviving fetuses to detect both acute and chronic ischemic injuries. The presence of anemia after RFA was also evaluated by Doppler ultrasound. RESULTS: Overall, 13 of the total 43 fetuses (30.23%) demonstrated MRI abnormalities with normal brain ultrasound results including germinal matrix hemorrhage (GMH), extensive cerebral ischemia, and mild ventriculomegaly. Although seven fetuses with GMH eventually survived, fetuses that demonstrated ischemic lesions and ventriculomegaly on MRI died in the uterus. CONCLUSION: The absence of abnormal cerebral lesions or anemia on ultrasound and Doppler exams does not necessarily rule out fetal brain ischemia. Performing early MRI, particularly DWI seems to be a reasonable option for detection of early intracranial ischemic changes and better management of complicated multiple pregnancies which were treated by RFA.

Ultrasound and magnetic resonance imaging features of fetal intracranial cystic lesions: A pictorial essay.

This pictorial essay focuses on ultrasound (US) and magnetic resonance imaging (MRI) features of fetal intracranial cysts. Intracranial cysts are common findings in prenatal imaging, and if great attention is paid to their size, location, and imaging features, they can be diagnosed accurately. They are usually detected by fetal ultrasound exams. However, when ultrasound data on cystic lesion characteristics is insufficient, MRI and fetal neurosonogram are the best options for detecting other associated anomalies. The prognosis is highly dependent on their location and whether they are associated with other fetal anomalies.

Fetal corpus callosum abnormalities: Ultrasound and magnetic resonance imaging role.

The corpus callosum (CC) is the major interhemispheric commissure and its abnormalities include agenesis, hypoplasia, and hyperplasia. The CC anomalies are typically related to other central nervous system (CNS) or extra-CNS malformations. The antenatal diagnosis of complete CC agenesis is easy after mid-trimester by ultrasound (US) even in the axial plane. The non-visualization of cavum septum pellucidum and colpocephaly are critical signs in the axial view. More subtle findings (i.e., hypoplasia and partial agenesis) might also be recognized antenatally. In this review, the focus was given on the prenatal diagnosis of CC abnormalities in US and magnetic resonance imaging.

Effect of resveratrol administration on ovarian morphology, determined by transvaginal ultrasound for the women with polycystic ovary syndrome (PCOS).

Intake of resveratrol has been associated with improved ovarian morphology under in vitro and in the animal models; however, this finding has not been confirmed in trials. The aim of our study was, therefore, to use a placebo-controlled approach with the detailed assessment of the ovarian morphology by applying transvaginal ultrasound to examine the effectiveness of this therapeutic approach in this group of women. The mean age of all participants was 28·61 (sd 4·99) years, with the mean BMI of 28·26 (sd 5·62) kg/m2. Resveratrol therapy, as compared with placebo, was associated with a significantly higher rate of improvement in the ovarian morphology (P = 0·02). Women who received resveratrol had a more dominant follicle than those getting placebo, with a significant reduction in the ovarian volume (P < 0·05). However, the number of follicle count per ovary (FNPO), stromal area (SA), ovarian echogenicity and distribution of follicles were not significantly altered (P > 0·05). Forty-one women with polycystic ovary syndrome (PCOS) were randomly assigned (1:1) to 3 months of daily 1000 mg resveratrol or placebo. Random assignment was done by blocked randomisation. Our primary endpoints were the change in the ovarian volume, SA and antral FNPO from the baseline to 3 months. Secondary endpoints were improvement in the distribution of follicles and ovarian echogenicity. Differences between the resveratrol and control groups were evaluated by Chi-square, Fisher's exact test and repeated-measures ANOVA. Treatment with resveratrol significantly reduced the ovarian volume and polycystic ovarian morphology, thus suggesting a disease-modifying effect in PCOS.

Apparent diffusion coefficient of different areas of brain in foetuses with intrauterine growth restriction.

PURPOSE: This study aimed to compare the apparent diffusion coefficient (ADC) values of different brain areas between two groups of intrauterine growth restricted (IUGR) foetuses and control cases. MATERIAL AND METHODS: A total of 38 foetuses with IUGR and 18 normal control foetuses with similar gestational age were compared using a 3T magnetic resonance scanner. IUGR cases included 23 foetuses with clinical severity signs (group A) and 15 foetuses without clinical severity signs (group B). ADC values were measured in different brain regions and compared among groups. Foetuses with structural brain abnormalities were excluded from the study. RESULTS: All foetuses had normal foetal structural brain anatomy. Head circumference (HC) < 5% was more common in IUGR group A compared to IUGR group B (56.5% vs. 13.3%, p < 0.0001). In comparison to the normal group, the ADC values in IUGR foetuses were significantly lower in cerebellar hemispheres (CH) (1.239 vs. 1.280.5 × 10-3 mm2/s, p = 0.045), thalami (1.205 vs. 1.285 × 10-3 mm2/s, p = 0.031) and caudate nucleus (CN) (1.319 vs. 1.394 × 10-3 mm2/s, p = 0.04). However, there were no significant differences in ADC values between IUGR subtypes. Among all brain regions, pons had the lowest ADC values. CONCLUSIONS: ADC values of thalami, CN, and CH were significantly lower in IUGR than control foetuses, while there was no significant difference among IUGR groups. Further studies are needed to evaluate the prognostic value of ADC changes in IUGR foetuses.

A case of prenatally detected left isomerism and hemiazygos continuation of inferior vena cava.

Heterotaxy syndromes are defined as the disorders that involve abnormal arrangement of viscera. We present a case of prenatally diagnosed left isomerism in a 30-year-old primigravida woman referred to our hospital for complex cardiac abnormality. Sonographic findings included heart block, unbalanced atrioventricular septal defect, interruption of the inferior vena cava with hemiazygos continuation, double superior vena cava, a right-sided stomach, and biliary atresia. The hemiazygos vein drained into the right atrium by the persistent left superior vena cava. This type of inferior vena cava interruption and continuation is rarely reported in prenatally detected cases of left isomerism. © 2017 Wiley Periodicals, Inc. J Clin Ultrasound 45:430-433, 2017.

Imaging the post-treatment pelvis with gynecologic cancers.

Gynecological malignancies, such as ovarian cancers, cervical cancers, and endometrial cancers, have a significant global impact. Women with gynecologic malignancies may receive a single or a combination of treatments, including surgery, chemotherapy, and radiation-based therapies. Radiologists utilize various diagnostic imaging modalities to provide the surgeon with relevant information about the diagnosis, prognosis, optimal surgical strategy, and prospective post-treatment imaging. Computerized Tomography (CT) and magnetic resonance imaging (MRI) may be used initially to evaluate and detect post-treatment complications. Although CT is primarily used for staging, MRI is commonly used for a more accurate evaluation of a tumor's size and detection of local invasion. Complications such as hematoma, abscess, inclusion cyst, seroma, tumor thrombosis, anorectovaginal fistula, and gossypiboma may occur after the three primary treatments, and systems such as the genitourinary, gastrointestinal, neurological, and musculoskeletal may be affected. In order to distinguish between early-onset and late-onset complications following gynecological treatment, radiological findings of the most common post-treatment complications will be presented in this review.

Pattern Recognition or Adnexal MR Scoring System: Which Is More Accurate in Evaluating Adnexal Lesions?

PURPOSE: This study aims to compare the accuracy of the ADNEX MR scoring system and pattern recognition system to evaluate adnexal lesions indeterminate on the US exam. METHODS: In this cross-sectional retrospective study, pelvic DCE-MRI of 245 patients with 340 adnexal masses was studied based on the ADNEX MR scoring system and pattern recognition system. RESULTS: ADNEX MR scoring system with a sensitivity of 96.6% and specificity of 91% has an accuracy of 92.9%. The pattern recognition system's sensitivity, specificity, and accuracy are 95.8%, 93.3%, and 94.7%, respectively. PPV and NPV for the ADNEX MR scoring system were 85.1 and 98.1, respectively. PPV and NPV for the pattern recognition system were 89.7% and 97.7%, respectively. The area under the ROC curve for the ADNEX MR scoring system and pattern recognition system is 0.938 (95% CI, 0.909-0.967) and 0.950 (95% CI, 0.922-0.977). Pairwise comparison of these AUCs showed no significant difference (p = 0.052). CONCLUSION: The pattern recognition system is less sensitive than the ADNEX MR scoring system, yet more specific.