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Introduction: CHARGE syndrome is an autosomal dominant genetic disorder with known pattern of features. The aim of the study was to present the fetal features of CHARGE syndrome to gain awareness that the antenatal characteristics can be very nonspecific. Case Presentation: This was a retrospective study of 13 cases with CHARGE syndrome diagnosed by prenatal or postnatal genetic testing and physical examination. Two (15.4%; 2/13) had normal ultrasound scans during pregnancy. One (7.7%; 1/13) with first-trimester cystic hygroma presented intrauterine fetal demise at 16 weeks gestation. The remaining 10 (76.9%; 10/13) cases had abnormal ultrasound features in utero; among these, 1 had an increased nuchal translucency in the first trimester, 5 had second-trimester abnormal ultrasounds including micrognathia, cardiac defects, and facial defects, and 4 third-trimester abnormal ultrasounds including micrognathia, isolated fetal growth restriction, and polyhydramnios. Among the 11 cases with abnormal prenatal ultrasound scans, no fetus could reach the diagnostic criteria of CHARGE syndrome if only based on the results of ultrasound. However, the diagnosis was made in all cases when CHD7 defects were detected. Discussion/Conclusion: The CHARGE syndrome presents non-specific abnormal ultrasound markers in utero. Exome sequencing in the genetic workup will aid in prenatal diagnosis of this syndrome. [ABSTRACT FROM AUTHOR]

Objective: Evaluate the two-dimensional (2D) ultrasound (US) grid and multidisciplinary consultation (maxillofacial surgeon-sonographer) during prenatal US imaging to improve the sensitivity of prenatal description for cleft lip (CL) with or without alveolar cleft (CLA) or +/- cleft palate (CLP). Design: Retrospective study of children with CL/P in a tertiary children's Hospital. Setting: Single-center cohort study conducted in a tertiary pediatric Hospital. Patients/Participants: Fifty-nine cases of prenatally diagnosed CL +/-CA or CP between January 2009 and December 2017 were analyzed. Main Outcome Measures: The correlation was analyzed between prenatal US and postnatal data with regard to eight 2D US criteria (upper lip, alveolar ridge, median maxillary bud, homolateral nostril subsidence, deviated nasal septum, hard palate, tongue movement, nasal cushion flux) in order to propose them in a grid, as well as the presence of the maxillofacial surgeon during the US examination. Results: Among the 38 cases included, the results were considered satisfied for 87%. Sixty five percent of the US criteria were described when the final diagnosis was correct (5.2 criteria) versus (vs) 45% (3.6 criteria); [OR = 2.28; IC95% (1.10-4.75) P =.022 < 0.05]. This study also highlighted a more in-depth description when the maxillofacial surgeon was present with 68% of 2D US criteria fulfilled (5.4 criteria) vs 47.5% (3.8) when the sonographer was alone [OR = 2.32; IC95% (1.34-4.06) P <.001]. Conclusion: This US grid with eight criteria has considerably contributed to a more precise prenatal description. In addition, the systematic multidisciplinary consultation seemed to optimize it and lead to better prenatal information on pathology and postnatal surgical techniques. [ABSTRACT FROM AUTHOR]

Skeletal dysplasias are a heterogeneous group of bone growth disorders resulting in abnormal shape and/or size of the skeleton involving bone and cartilage structures. The current classification is based upon either descriptive findings or the presumed pathogenesis of the disease. The classification system most commonly used is the International Nomenclature and Classification of Constitutional Disorders of Bone. There are now over 33 osteochondrodysplasias groups and 3 genetically determined dysostoses. The prevalence of skeletal dysplasias identified at birth is approximately 2.4/10,000 births. The overall frequency of skeletal dysplasias among perinatal deaths is approximately 9.1/1000. While more than 200 different skeletal dysplasias have been described, the number that can be recognized by ultrasound in the antenatal period is far fewer. The antenatal diagnosis of skeletal dysplasia can be difficult. The challenge involves not only accurately identifying the fetus affected with an abnormal skeleton but also accurately diagnosing the skeletal abnormality and predicting the fetal outcome. The majority of skeletal dysplasias are diagnosed after the first trimester. Approximately 50% will be diagnosed prior to 24 weeks. The accurate antenatal diagnosis of skeletal dysplasias is good at 60--65%, with approximately 19% being missed diagnosed, in 21% the diagnosis was imprecise. Ultrasound can be a valuable tool not only in identifying the potentially affected fetus but also in counseling the parents regarding the potential outcome and options for pregnancy management. [ABSTRACT FROM AUTHOR]

Introduction Twin-twin transfusion syndrome (TTTS) is a typical complication of monochorionic twin pregnancies (MCTP). Placental vessels that communicate in the chorionic plate between donor and recipient, are responsible for the imbalance of blood flow. Circulatory imbalance causes hypovolemia in donor and hypervolemia in recipient fetus. In a typical case, recipient fetus develops polyhydramnios, weight gain, cardiomegaly and hydrops fetalis. In contrast, donor fetus develops oligohydramnios and fetal growth restriction. Aim The objective of this review is to evaluate in detail the main diagnostic aspects and add other important data for diagnosis of TTTS. Scientific bases The main diagnostic event for this condition is based on the ultrasonographic discovery of oligohydramnios-polyhydramnios sequence. Other useful elements for diagnosis, staging and prognosis are fetal urinary bladder visualization, urinary bladder volumen measurements, edema of subcutaneous and/or generalized tissue edema, Doppler flow velocity waves and cardiac evaluation. Conclusion Considerations regarding diagnosis of TTTS make it possible to emphasize that role of physicians treating patients with MCTP is to identify ultrasound sequence of oligohydramnios-polyhydramnios. Other ultrasonographic fetal data as fetal urinary bladder visualization, urinary bladder volumen measurements, edema of subcutaneous and/or generalized tissue edema, Doppler flow velocity waves and cardiac evaluation; may help diagnosis, staging and prognosis of TTTS. It is their responsibility to accurately assess severity, therapeutic possibilities and prognosis. Key Points The role of physicians treating patients with MCTP, regarding diagnosis of TTTS, must be to identify ultrasound sequence of oligohydramnios–polyhydramnios. Other ultrasonographic fetal data may help diagnosis, staging, and prognosis of TTTS as follows: fetal urinary bladder visualization, urinary bladder volume measurements, edema of subcutaneous and/or generalized tissue edema, Doppler flow velocity waves, and cardiac evaluation. It is physicians' responsibility to accurately assess severity, therapeutic possibilities, and prognosis of patients with MCTP and diagnosis of TTTS. [ABSTRACT FROM AUTHOR]

Objective: To determine the diagnostic accuracy of prenatal ultrasound in detecting coarctation of the aorta (CoA). Methods: An individual participant data meta‐analysis was performed to report on the strength of association and diagnostic accuracy of different ultrasound signs in detecting CoA prenatally. MEDLINE, EMBASE and CINAHL were searched for studies published between January 2000 and November 2021. Inclusion criteria were fetuses with suspected isolated CoA, defined as ventricular and/or great vessel disproportion with right dominance on ultrasound assessment. Individual participant‐level data were obtained by two leading teams. PRISMA‐IPD and PRISMA‐DTA guidelines were used for extracting data, and the QUADAS‐2 tool was used for assessing quality and applicability. The reference standard was CoA, defined as narrowing of the aortic arch, diagnosed after birth. The most commonly evaluated parameters on ultrasound, both in B‐mode and on Doppler, constituted the index test. Summary estimates of sensitivity, specificity, diagnostic odds ratio (DOR) and likelihood ratios were computed using the hierarchical summary receiver‐operating‐characteristics model. Results: The initial search yielded 72 studies, of which 25 met the inclusion criteria. Seventeen studies (640 fetuses) were included. On random‐effects logistic regression analysis, tricuspid valve/mitral valve diameter ratio > 1.4 and > 1.6, aortic isthmus/arterial duct diameter ratio < 0.7, hypoplastic aortic arch (all P < 0.001), aortic isthmus diameter Z‐score of < −2 in the sagittal (P = 0.003) and three‐vessel‐and‐trachea (P < 0.001) views, pulmonary artery/ascending aorta diameter ratio > 1.4 (P = 0.048) and bidirectional flow at the foramen ovale (P = 0.012) were independently associated with CoA. Redundant foramen ovale was inversely associated with CoA (P = 0.037). Regarding diagnostic accuracy, tricuspid valve/mitral valve diameter ratio > 1.4 had a sensitivity of 72.6% (95% CI, 48.2–88.3%), specificity of 65.4% (95% CI, 46.9–80.2%) and DOR of 5.02 (95% CI, 1.82–13.9). The sensitivity and specificity values were, respectively, 75.0% (95% CI, 61.1–86.0%) and 39.7% (95% CI, 27.0–53.4%) for pulmonary artery/ascending aorta diameter ratio > 1.4, 47.8% (95% CI, 14.6–83.0%) and 87.6% (95% CI, 27.3–99.3%) for aortic isthmus diameter Z‐score of < –2 in the sagittal view and 74.1% (95% CI, 58.0–85.6%) and 62.0% (95% CI, 41.6–78.9%) for aortic isthmus diameter Z‐score of < –2 in the three‐vessel‐and‐trachea view. Hypoplastic aortic arch had a sensitivity of 70.0% (95% CI, 42.0–88.6%), specificity of 91.3% (95% CI, 78.6–96.8%) and DOR of 24.9 (95% CI, 6.18–100). The diagnostic yield of prenatal ultrasound in detecting CoA did not change significantly when considering multiple categorical parameters. Five of the 11 evaluated continuous parameters were independently associated with CoA (all P < 0.001) but all had low‐to‐moderate diagnostic yield. Conclusions: Several prenatal ultrasound parameters are associated with an increased risk for postnatal CoA. However, diagnostic accuracy is only moderate, even when combinations of parameters are considered. © 2024 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology. [ABSTRACT FROM AUTHOR]

Introduction: To determine lung hypoplasia in cases with fetal skeletal dysplasia based on the total lung weight at autopsy as the most accountable surrogate marker for pulmonary hypoplasia. Methods: This retrospective cohort study included all pregnancies with antenatal diagnosis of skeletal dysplasia (2012–2018). We included only cases in which information on fetal biometry was available within 2 weeks before delivery and had autopsy and skeletal X-rays + molecular analysis using extracted fetal DNA. We compared the predictive accuracy of fetal sonographic body-proportional ratios (BPRs) including: (1) thoracic circumference-to-abdominal circumference ratio, (2) the femur length-to-abdominal circumference (FL/AC) ratio, (3) head circumference-to-abdominal circumference ratio, and (4) foot length-to-femur length ratio. Lung hypoplasia was defined as total lung weight below −2 SD from the expected mean for gestational age. Results: Fifty three pregnancies with antenatal diagnosis of skeletal dysplasia underwent autopsy included. Lung hypoplasia was determined in 34 (64.1%). Median of gestational age at last sonographic assessment was 21.3 (19.9–24.9) weeks. FL/AC ratio demonstrated the highest area under the curve of 0.817 (95% CI: 0.685–0.949; p < 0.0001). FL/AC ≤0.1550 demonstrated the highest detection rate of 88.2% along with the highest negative predictive value of 75%. Conclusion: Using a novel, more practical approach to predict lung hypoplasia in skeletal dysplasia, fetal sonographic BPRs and, specifically, FL/AC ratio demonstrate a high detection rate of lung hypoplasia. [ABSTRACT FROM AUTHOR]

Prenatal diagnosis of clubfoot traditionally relied on two-dimensional ultrasonography. To enhance diagnosis and predict postnatal outcomes, we examined the parameters that differentiate pathological clubfoot using three-dimensional ultrasonography. In our retrospective study, we examined the findings of prenatal ultrasound and the postnatal outcomes of pregnancies with suspected congenital clubfoot between 2018 and 2021. Based on the three-dimensional perspective, we measured the angles of varus, equinus, calcaneopedal block, and forefoot adduction and compared the sonographic variables between the postnatal treated and non-treated groups. We evaluated 31 pregnancies (47 feet) with suspected clubfoot using three-dimensional ultrasonography. After delivery, a total of 37 feet (78.7%) underwent treatment involving serial casting only or additional Achilles tenotomy. The treated group showed significantly greater hindfoot varus deviation (60.5° vs. 46.6°, p = 0.026) and calcaneopedal block deviation (65.6° vs. 26.6°, p < 0.05) compared to the non-treated group. The calcaneopedal block had an area under the curve of 0.98 with a diagnostic threshold of 46.2 degrees (sensitivity of 97%, specificity of 90%, positive predictive value of 97%, and negative predictive value of 90%). During prenatal evaluation of clubfoot using three-dimensional ultrasonography, the calcaneopedal block deviation has the potential to predict postnatal treatment. [ABSTRACT FROM AUTHOR]

Simple Summary: This study focused on the ultrasound diagnosis of twins in canine and feline species. Prenatal diagnosis is becoming increasingly important even in small animals to assess foetal morphology and identify any eventual abnormalities. In canine and feline species, which are typically polytocous species, only monochorionic twins, i.e., sharing at least the same placenta, can be termed, using ultrasound, as twins. In this study, seven cases of monochorionic twins were reported with a prevalence of under 1%. The clinical relevance of such a diagnosis is to prevent complications during pregnancy and, especially, delivery. Prenatal diagnosis comprises a set of investigations, both instrumental and laboratory-based, which aim to monitor the health of the foetus during pregnancy, from the early stages of embryonic development to the moments preceding delivery. A growing interest is emerging for the preterm ultrasound morphological screening of embryos and foetuses, aimed at assessing the integrity and viability of the conceptus, as well as the early diagnosis of anomalies which can cause complications. This study is a retrospective study of the ultrasonographic findings of twins in the authors' clinical activity from 2016 to 2022. Only seven cases of monochorionic twins were recorded, out of the whole number of evaluations performed on 3120 foetuses, with a prevalence of 0.6% and 0.2% in feline and canine foetuses. All the twins had their own amniotic sac and umbilical cord but presented a single placenta and a single allantoic sac. Unfortunately, the three feline cases were not more recognizable at term. In the four canine cases, three were of opposite sex and then necessarily dizygotic. Twins may have an impact on the success of a pregnancy due to the risk of dystocia, as observed in some of the reported cases. Prenatal ultrasound allows early recognition of twins in dogs and cats. [ABSTRACT FROM AUTHOR]

BACKGROUND: Bowel dilation and bowel wall thickness are common prenatal ultrasound measurements for fetuses with gastroschisis. Data regarding antenatal sonographic bowel findings and postnatal outcomes are conflicting. Our objective was to evaluate the impact of in utero bowel measurements on perinatal outcomes in gastroschisis pregnancies. METHODS: Retrospective cohort study of 116 pregnancies complicated by gastroschisis between 2011 and 2020. We reviewed ultrasounds documenting fetal bowel measurements. To evaluate the association of these measurements with antepartum and delivery outcomes, we ran logistic and linear models using generalized estimating equations. RESULTS: Eleven perinatal outcomes reached statistical significance, although with minimal clinical impact given small magnitude of effect. Intra-abdominal bowel dilation was associated with a 0.5 week decrease in delivery gestational age (GA) (95% CI –0.07, –0.03) and a 6.93 g increase in birth weight (95% CI 1.54, 28.73). Intra-abdominal bowel wall thickness was associated with later GA of non-stress test (NST) start of 0.22 weeks (95% CI 0.07, 0.37), increased delivery GA of 0.08 weeks (95% CI 0.02, 0.15), 0.006 decrease in umbilical artery (UA) pH (95% CI –0.009, –0.003), 0.26 increase in UA base deficit (95% CI 0.09, 0.43), and decreased odds of cesarean delivery (OR = 0.83, 95% CI 0.70, 0.99). Extra-abdominal bowel wall thickness was associated with a 0.1 increase in UA base deficit (95% CI 0.02, 0.19) and a 0.05 increase in 5-min APGAR score (95% CI 0.01, 0.09). Stomach cross-section was associated with a 0.01 week decrease in delivery GA (95% CI –0.02, –0.001) and increased odds of receiving betamethasone (OR = 1.02, 95% CI 1.01, 1.04). CONCLUSIONS: In utero bowel characteristics reached statistical significance for several outcomes, but with minimal meaningful clinical differences in outcomes. [ABSTRACT FROM AUTHOR]

Twin reversed arterial perfusion (TRAP), a rare condition (0.3:10,000) that occurs in monochorionic twin pregnancies, with the coexistence of a normal "pump twin" and an acardiac twin. The acardiac twin is parasitic, using an anomalous reversal of umbilical arterial flow. This anastomosis occurs in the 3rd--4th week of gestation, and the acardiac twin puts the pump fetus at risk of highoutput cardiac failure. The pump twin has a mortality rate of up to 55%. Antenatal ultrasound recognition in the first trimester Doppler confirmation of the diagnosis of TRAP sequence in twin pregnancies aids in proper prenatal diagnosis. Presented is a 26-year-old woman, gravida para, who came to our hospital at 19th gestational week (GW). The first ultrasound showed a twin monochorionic/diamniotic pregnancy, with one normally developed fetus and an atypical mass without a heart. The patient was previously monitored elsewhere, but TRAP syndrome wasn't identified. We followed her until the 26th week, and she was later sent to a tertiary center for further conservative treatment in the absence of operative treatment in our country. The patient gave birth via C-section in the 32nd gestation week. The normal twin was born in good condition and was sent home after a few weeks. [ABSTRACT FROM AUTHOR]

Objective: To develop and evaluate a training program for diagnosing placenta accreta spectrum (PAS) disorder in obstetrics/gynecology and radiology residents. Methods: This single‐center prospective study was based on 177 ultrasound images of pathologically confirmed PAS extracted from 534 cases of placenta previa suspicious for PAS. First‐ to third‐year residents were evaluated before training to assess experience and ability to diagnose PAS. They attended a principal lecture followed by weekly self‐study exercises over 5 weeks. Post‐course tests evaluated the efficacy of the training program for improving diagnosis of PAS after the program. Results: Twenty‐three (38.3%) obstetrics/gynecology and 37 (61.7%) radiology residents were trained. Before the training program, 98.3% reported minimal experience and 100% low confidence to correctly diagnose PAS. During the program, the overall accuracy of all participants in diagnosing PAS increased from 71.3% before to 95.2% after training (P < 0.001). Regression analyses showed that ability to diagnose PAS increased 2.52‐fold (P < 0.001) following the program. The retention of knowledge at 1, 3, and 6 months posttest was 84.7%, 87.5%, and 87.7%, respectively. Conclusion: An antenatal diagnosis of PAS training program can be effective as a residency training program, considering the globally rising cesarean delivery rates. Synopsis: This study developed and evaluated an online training program that improved the ability of inexperienced participants to diagnose placenta accreta spectrum disorder. [ABSTRACT FROM AUTHOR]

Objective: To determine the rate of resolution of placenta previa and low‐lying placenta (LLP) and the effect of pelvic rest recommendations on the timing of follow‐up imaging. Methods: Retrospective review of pregnancies with previa/LLP detected on mid‐trimester exam at our ultrasound unit from 2019 to 2021. LLP was defined as the lower edge of placenta located within 2 cm of the internal cervical os. Previa was defined as any portion of the placenta touching with the internal os. Demographics, placental location, activity restrictions, and delivery outcomes were analyzed. Timing of follow‐up imaging was stratified by individuals advised and not advised pelvic rest. Results: Exactly 144 patients had previa and 266 had LLP on the mid‐trimester exam with complete records. Previa resolution happened in 51.4% (74/144) of cases. Exactly 62% (46/74) of previa resolutions occurred by the 28‐week ultrasound. Exactly 45% (65/144) of previa patients were advised pelvic rest. Most pelvic rest and non‐pelvic rest patients had a 28‐week scan. Even when clearance occurred, most patients in both groups had a repeat ultrasound at 32 weeks. Exactly 75% of LLP resolved by the 28‐week scan, and the remainder by delivery. Exactly 12% (32/259) of LLP patients were advised pelvic rest. Conclusion: Most societies recommend follow‐up imaging at 32 weeks; however, our results suggest this may be done sooner and closer to 28 weeks. Pelvic rest did not affect timing of repeat imaging or delivery. [ABSTRACT FROM AUTHOR]

Objectives-To evaluate ultrasound markers during a first-trimester (FT) routine ultrasound examination for an early detection of open spina bifida (OSB) and to correlate the sonographic findings with the morpho-histological ones. Materials and Methods: This retrospective research was performed using data from foetuses that underwent FT anatomy scans (FTAS) with a gestational age between 11 weeks and 13 weeks and 6 days in the Prenatal Diagnostic Unit of the Clinical Emergency County Hospital Craiova from October 2022 until September 2023. Results: The study included 648 FT singleton pregnancies and 5 OSB cases were detected. In the OSB group, we found abnormal aspects of the fourth ventricle, also named intracranial translucency (IT) in 4 out of 5 cases of OSB (80%), a brain stem anteroposterior diameter, and brain stem to occipital bone ratio abnormal in all 5 cases (greater than 1) (100%), the crash sign was present in 80% (4 out of 5 cases) and the spinal defect was visualized in 4 out of 5 patients (80%). Medical termination of pregnancy (MTOP) was the preferred option in all cases of OSB. This allowed us to include an extended histological study to confirm the ultrasound diagnosis. Conclusions: A combined detailed FTAS that includes both cranial ultrasound markers of the posterior fossa and also a good visualization of the foetal spine offers an early optimal detection rate of spine abnormalities. [ABSTRACT FROM AUTHOR]

Distinguishing between urinary bladder varices and retroplacental neovascularization in placenta accreta spectrum in high‐risk patients with placental previa is a diagnostic challenge since they have similar appearances on prenatal ultrasound. Placenta accreta spectrum is associated with massive obstetric haemorrhage while the presence of urinary bladder varices in pregnancy poses a lower surgical risk. Since the clinical implications and management approach for both conditions are entirely different, false positive diagnoses have iatrogenic consequences. In this article, we share our experiences in differentiating these two phenomena on prenatal ultrasound supported by ultrasound and intraoperative images. [ABSTRACT FROM AUTHOR]

Objectives: The current study aimed to determine the sensitivity and specificity of ultrasound for the diagnosis of placenta accreta spectrum (PAS) in a universal screening population and assesses the added value of magnetic resonance imaging (MRI). Methods: This retrospective analysis evaluated 5219 patients with singleton pregnancies who had a standardized ultrasound (US) examination in our unit and delivered at our institution between 2014 and 2019. Results: A total of 181 (3.5%) of 5219 (100%) patients had a suspicion or diagnosis of PAS with US. The accuracy of US in detecting placenta increta/percreta showed a sensitivity of 100%, specificity of 99.9%, positive predictive value of 82.4%, and a negative predictive value of 100%. The diagnosis of all forms of PAS showed a sensitivity of 25.8%, specificity of 99.8%, positive predictive value of 80.8%, and a negative predictive value of 97.7%. MRI was concordant with US in 11 of 14 (78.5%) cases of severe forms of PAS and in three of 15 (20.0%) cases with placenta accreta. Conclusion: A standardized US evaluation can be applied in a universal screening setting for the diagnosis of severe forms of PAS. MRI is a complementary examination in severe forms of PAS but seems of limited value to discriminate placenta accreta from placenta increta/percreta. Synopsis: Ultrasound shows a high accuracy in detecting severe forms of placenta accreta spectrum such as placenta increta/percreta in a universal screening population. [ABSTRACT FROM AUTHOR]

Biliary atresia (BA) is a rare but devastating cholangiopathy. We report a case series of dysmorphic gallbladders detected during prenatal ultrasound, which were confirmed as BA after birth. We present the prenatal ultrasound findings as well as integral follow‐up, with an aim to raise awareness regarding the association between BA and dysmorphic gallbladder. Although this dysmorphic gallbladder is a strong hint for BA, it is also important to search for other related sonographic features, such as the presence of microcysts at the hepatic hilum, dilated right hepatic artery, and seroperitoneum, which may provide more evidence for the diagnosis of BA. [ABSTRACT FROM AUTHOR]

Background: To evaluate the role of a standardized first-trimester scan in screening different kinds of central nervous system malformations and to report a 3-year experience from a tertiary center using an unselected cohort. Methods: This was a retrospective analysis of prospectively collected data from a single center evaluating first-trimester scans with predesigned standardized protocols performed between 1 May 2017 and 1 May 2020, involving 39,526 pregnancies. All pregnant women underwent a series of prenatal ultrasound scans at 11–14, 20–24, 28–34 and 34–38 weeks of gestation. Abnormalities were confirmed by magnetic resonance imaging, postmortem examination or trained ultrasound professionals. Pregnancy outcomes and some postnatal follow-up were obtained from maternity medical records and telephone calls. Results: A total of 38,586 pregnancies included in the study. The detection rates of CNS anomalies by ultrasound in the first, second, third and late third trimester were 32%, 22%, 25%, and 16%, respectively. And there were 5% of CNS anomalies missed by prenatal ultrasound. In the first-trimester scan, we diagnosed all cases of exencephaly, anencephaly, alobar holoprosencephaly and meningoencephalocele, and some cases of posterior cranial fossa anomalies (20%), open spina bifida (67%), semilobar holoprosencephaly (75%) and severe ventriculomegaly (8%). Vein of Galen aneurysmal malformation, closed spina bifida, lobar holoprosencephaly, intracranial infection, arachnoid cyst, agenesis of the corpus callosum, cysts of the septum pellucidum and isolated absence of the septum pellucidum were never detected during the first trimester. The abortion rates of fetal CNS anomalies detected by first-trimester scan, second-trimester scan, and third- trimester scan were 96%, 84% and 14%, respectively. Conclusions: The study showed that almost 1/3 of central nervous system anomalies were detected by the standard first-trimester scan and these cases were associated with a high rate of abortion. Early screening for fetal abnormalities gives parents more time for medical advice and safer abortion if needed. It is therefore recommended that some major CNS anomalies should be screened in the first trimester. The standardized anatomical protocol, consisting of four fetal brain planes, were recommended for routine first trimester ultrasound screening. [ABSTRACT FROM AUTHOR]

Introduction: Sprengel's deformity is a rare congenital anomaly of the shoulder rim. It is the most common congenital anomaly of the shoulder, associated with cosmetic deformity and abnormal shoulder function. Nonsurgical management can be considered for mild cases. Surgical intervention is indicated in moderate to severe cases with the goal of improving cosmetic appearance and function. The best surgical results are obtained in children aged 3–8 years. Correct diagnosis is very important because Sprengel's deformity can be accompanied by additional abnormalities, even in mild cases, and lack of a diagnosis delays proper treatment of the child. The severity of the defect may progress, so it is important to correctly identify children with Sprengel's deformity, even those with a mild form of the defect. Case Presentation: We report a case of prenatal sonographic diagnosis of Sprengel's deformity with additional features, as yet undescribed and missed – although visible – on prenatal magnetic resonance imaging (MRI). Cesarean delivery was performed due to preterm rupture of membranes, and a postnatal MRI confirmed the unusual constellation of Sprengel's anomaly with lateral meningocele, vestigial posterior meningocele, and lipoma tethering of the cord to the dural sac at the cervical-thoracic junction. Conclusion: Diagnosis of Sprengel's deformity is possible with prenatal ultrasound. Asymmetry of the cervical spine, discontinuity of the vertebral arch and abnormal vertebral bodies, as well as the asymmetric position of the shoulder blades with the presence of an omovertebral bone are signs that can help diagnose the defect. [ABSTRACT FROM AUTHOR]

Introduction: Body stalk anomaly is a severe defect of the abdominal wall, characterized by the evisceration of abdominal organs and, in more severe cases, thoracic organs as well. The most serious condition in a body stalk anomaly may be complicated by ectopia cordis, an abnormal location of the heart outside the thorax. The aim of this scientific work is to describe our experience with the prenatal diagnosis of ectopia cordis as part of the first-trimester sonographic screening for aneuploidy. Methods: We report two cases of body stalk anomalies complicated by ectopia cordis. The first case was identified during a first ultrasound examination at 9 weeks of gestation. The second was identified during an ultrasound examination at 13 weeks of gestation. Both of these cases were diagnosed using high-quality 2- and 3-dimensional ultrasonographic images obtained by the Realistic Vue and Crystal Vue techniques. The chorionic villus sampling showed that the fetal karyotype and CGH-array were both normal. Results: In our clinical case reports, the patients, immediately after the diagnosis of a body stalk anomaly complicated by ectopia cordis, opted for the termination of pregnancies. Conclusion: Performing an early diagnosis of a body stalk anomaly that is complicated by ectopia cordis is desirable, considering their poor prognoses. Most of the reported cases in the literature suggest that an early diagnosis can be made between 10 and 14 weeks of gestation. A combination of 2- and 3-dimensional sonography could allow an early diagnosis of body stalk anomalies complicated by ectopia cordis, particularly using new ultrasonographic techniques, the Realistic Vue and the Crystal Vue. [ABSTRACT FROM AUTHOR]

Placenta accreta spectrum is a pregnancy complication associated with severe morbidity and maternal mortality especially when not suspected antenatally and appropriate management instigated. Women in resource‐limited settings are more likely to face adverse outcomes due to logistic, technical, and resource inadequacies. Accurate prenatal imaging is an important step in ensuring good outcomes because it allows adequate preparation and an appropriate management approach. This article provides a simple three‐step approach aimed at guiding clinicians and sonographers with minimal experience in placental accreta spectrum through risk stratification and basic prenatal screening for this condition both with and without Doppler ultrasound. [ABSTRACT FROM AUTHOR]

Clinical audit ensures healthcare is delivered in a standardised and evidence based manner. Detection of fetal anomalies is important to ensure expectant parents have opportunity to make informed decisions about their pregnancy. Audit of detection rates of fetal anomalies can highlight practice, which does not meet national standards, pinpointing gaps in staff education and training to improve this. This paper describes the implementation of a first time obstetric audit of fetal anomaly detection rates within an imaging department positioned in the National Health Service (NHS) of the United Kingdom. [ABSTRACT FROM AUTHOR]

To evaluate the contribution of genetic investigations in case of isolated bilateral clubfoot detected by routine prenatal ultrasound. Pathogenic Copy Number Variations is about 3.9% in fetuses with isolated clubfoot (uni- or bilateral). We hypothesize that this rate could be higher in a homogenous group of fetuses with bilateral clubfoot. This retrospective single-center study included all women referred to our fetal-medicine center between 2013 and 2020 after ultrasound detection of isolated bilateral clubfoot. Genetic counseling was offered in which the woman was offered an amniocentesis for CMA and targeted investigation for Prader-Willi Syndrome (PWS), Steinert's disease and Spinal Muscular Atrophy (SMA). 34 women were referred, 18 of them consented to undergo genetic studies by amniocentesis (18/34; 52.9%). Pathogenic copy number variations (CNVs) were found in 2/18 (11.1%) of cases. One of these CNVs was directly linked to the clubfoot pathology (a deletion in 5q31.1 containing PITX1 gene). Four fetuses (4/18, 22.2%) had variants of unknown significance (VUS). No PWS, SMA or Steinert's disease was found. No case diagnosed with isolated clubfoot prenatally had additional anomalies postnatally. In the case of bilateral isolated clubfoot detected at the antenatal ultrasound, invasive prenatal testing should be offered, and if accepted, a CMA should be done, as pathogenic variations were observed in up to 11.1% of women who got amniocentesis. The findings of this study do not support the systematic recommendation of molecular studies for PWS, SMA, Steinert's disease. [ABSTRACT FROM AUTHOR]

Objective: We present a case with prenatal diagnosis of submucous cleft palate (SMCP) which was described using 2- and 3-dimensional (3D) ultrasonography in utero. Case Report: A 25-year-old pregnant woman was referred to our department for fetal ultrasound screening. After the detection of cardiac and spinal malformations of fetal, further detailed examination detected SMCP, which showed a gap within the hard palate on axial transversal view with the soft palate visible on sagittal view. The imaging of a defective hard palate in prenatal 3D ultrasonography is similar to that in postmortem 3D computed tomography reconstruction. Conclusion: A gap within the hard palate and verification of the visibility of the soft palate should be key points in the prenatal diagnosis of SMCP. Three-dimensional ultrasonic imaging is helpful for displaying the shape and extent of the bony defect in SMCP. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the effectiveness of ultrasound algorithm in diagnosis of fetal Hb Bart's disease among pregnancies at risk. Methods: Pregnancies at risk underwent ultrasound for the first time at 12–14 weeks of gestation and serial ultrasound every 2–4 weeks until 24 weeks to identify pre‐hydropic signs. The invasive procedure was omitted in case of no pre‐hydropic signs. Results: A total of 237 fetuses were recruited, including 53 affected and 184 unaffected fetuses. The algorithm has a sensitivity of 100% in the detection of fetal Hb Bart's disease with a false positive rate of 10.9%. Of the affected group, the mean gestational age at the time of diagnosis was 15.5 ± 2.6 week. 30.8% of all pregnancies at risk underwent invasive procedures. The algorithm had a 70% reduction in the rate of invasive procedures among pregnancies at risk without missing the affected cases. Conclusions: The algorithm is highly effective in the early detection of fetal Hb Bart's disease with a detection rate of 100%, and invasive diagnosis can be avoided in about 70% of cases. Thus, this algorithm should be used as a guideline for prenatal diagnosis of fetal Hb Bart's disease, especially in geographical areas of high prevalence. The algorithm is highly effective in early detection of fetal Hb Bart's disease with a detection rate of100% and the invasive diagnosis can be avoided in about 70% of cases. [ABSTRACT FROM AUTHOR]

Objective: To assess the performance of the 'separation sign' as a predictor of normal placental separation in a large cohort of women at risk for placenta accreta spectrum (PAS) and in a high-risk subgroup with placenta previa or anterior low-lying placenta and at least one previous Cesarean delivery.Methods: This was a prospective study of women at risk for PAS referred to a specialist clinic at between 22 and 38 weeks' gestation. All women underwent ultrasound assessment for the presence of the separation sign, which detects the difference in elasticity between the myometrium and the placenta, characterized by different rates of rebound after an ultrasound probe is used to apply pressure over the uteroplacental interface. When the sign is positive, the placenta appears to move relative to the myometrium, leading to the appearance or enhancement of the clear zone. The predictive performance of the separation sign for normal spontaneous placental separation at delivery was assessed.Results: Of the 194 included women, 163 had a positive separation sign, all of whom went on to have normal placental separation at delivery. Of the 24 women with a negative separation sign, three (12.5%) had normal placental separation and 21 (87.5%) were diagnosed with PAS. This yielded a sensitivity of 98.2% (95% CI, 94.8-99.6%) and specificity of 100% (95% CI, 83.9-100%). In the high-risk cohort (n = 35), a positive separation sign remained a reliable predictor of normal placental separation, with a positive predictive value of 100%, sensitivity of 88.9% (95% CI, 65.3-98.6%) and specificity of 100% (95% CI, 80.5-100%).Conclusions: The separation sign could be a useful tool in women considered to be at risk for PAS, as it can facilitate the prediction of normal placental separation at delivery. This may prevent overtreatment, the associated iatrogenic morbidity and unnecessary allocation of clinical resources. © 2022 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the performance of third-trimester ultrasound for the diagnosis of clinically significant placenta accreta spectrum disorder (PAS) in women with low-lying placenta or placenta previa.Methods: This was a prospective multicenter study of pregnant women aged ≥ 18 years who were diagnosed with low-lying placenta (< 20 mm from the internal cervical os) or placenta previa (covering the internal cervical os) on ultrasound at ≥ 26 + 0 weeks' gestation, between October 2014 and January 2019. Ultrasound suspicion of PAS was raised in the presence of at least one of these signs on grayscale ultrasound: (1) obliteration of the hypoechogenic space between the uterus and the placenta; (2) interruption of the hyperechogenic interface between the uterine serosa and the bladder wall; (3) abnormal placental lacunae. Histopathological examinations were performed according to a predefined protocol, with pathologists blinded to the ultrasound findings. To assess the ability of ultrasound to detect clinically significant PAS, a composite outcome comprising the need for active management at delivery and histopathological confirmation of PAS was considered the reference standard. PAS was considered to be clinically significant if, in addition to histological confirmation, at least one of these procedures was carried out after delivery: use of hemostatic intrauterine balloon, compressive uterine suture, peripartum hysterectomy, uterine/hypogastric artery ligation or uterine artery embolization. The diagnostic performance of each ultrasound sign for clinically significant PAS was evaluated in all women and in the subgroup who had at least one previous Cesarean section and anterior placenta. Post-test probability was assessed using Fagan nomograms.Results: A total of 568 women underwent transabdominal and transvaginal ultrasound examinations during the study period. Of these, 95 delivered in local hospitals, and placental pathology according to the study protocol was therefore not available. Among the 473 women for whom placental pathology was available, clinically significant PAS was diagnosed in 99 (21%), comprising 36 cases of placenta accreta, 19 of placenta increta and 44 of placenta percreta. The median gestational age at the time of ultrasound assessment was 31.4 (interquartile range, 28.6-34.4) weeks. A normal hypoechogenic space between the uterus and the placenta reduced the post-test probability of clinically significant PAS from 21% to 5% in women with low-lying placenta or placenta previa in the third trimester of pregnancy and from 62% to 9% in the subgroup with previous Cesarean section and anterior placenta. The absence of placental lacunae reduced the post-test probability of clinically significant PAS from 21% to 9% in women with low-lying placenta or placenta previa in the third trimester of pregnancy and from 62% to 36% in the subgroup with previous Cesarean section and anterior placenta. When abnormal placental lacunae were seen on ultrasound, the post-test probability of clinically significant PAS increased from 21% to 59% in the whole cohort and from 62% to 78% in the subgroup with previous Cesarean section and anterior placenta. An interrupted hyperechogenic interface between the uterine serosa and bladder wall increased the post-test probability for clinically significant PAS from 21% to 85% in women with low-lying placenta or placenta previa and from 62% to 88% in the subgroup with previous Cesarean section and anterior placenta. When all three sonographic markers were present, the post-test probability for clinically significant PAS increased from 21% to 89% in the whole cohort and from 62% to 92% in the subgroup with previous Cesarean section and anterior placenta.Conclusions: Grayscale ultrasound has good diagnostic performance to identify pregnancies at low risk of PAS in a high-risk population of women with low-lying placenta or placenta previa. Ultrasound may be safely used to guide management decisions and concentrate resources on patients with higher risk of clinically significant PAS. © 2022 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology. [ABSTRACT FROM AUTHOR]

Background: There are a few literature reports of prenatal ultrasound manifestations of Williams-Beuren syndrome. We aimed to explore the prenatal diagnosis of Williams-Beuren syndrome by ultrasound and chromosomal microarray analysis and describe the prenatal ultrasound performance of this syndrome. Methods: In this retrospective study, we reported eight cases of Williams-Beuren syndrome diagnosed at our prenatal diagnostic center from 2016 to 2021. We systematically reviewed clinical data from these cases, including indications for invasive testing, sonographic findings, QF-PCR results, chromosomal microarray analysis results, and pregnancy outcomes. Results: In this study, the common ultrasound features were ventricular septal defect (37.5%), intrauterine growth retardation (25%), and aortic coarctation (25%). Moreover, all patients were found to have a common deletion in the Williams-Beuren syndrome chromosome region at the 7q11.23 locus, which contained the elastin gene. Deletion sizes ranged from 1.42 to 2.07 Mb. Seven parents asked for termination of pregnancy, and one patient was lost to follow-up. Conclusions: This study is the most extensive prenatal study using chromosomal microarray analysis technology for detailed molecular analysis of Williams-Beuren syndrome cases. We reported three cases combined with first-reported ultrasound manifestations. Case 1 was concomitant with multicystic dysplastic kidney and duodenal atresia combined with case 3. Notably, case 4 was combined with multiple cardiovascular malformations: Tetralogy of Fallot, right aortic arch, and supravalvar aortic stenosis. These manifestations expand the intrauterine ultrasound phenotype of Williams-Beuren syndrome in previous literature reports. [ABSTRACT FROM AUTHOR]

Aim: To investigate the types, associated anomalies and postnatal outcomes of fetal hepatic venous system (HVS) variants by ultrasound in China.Material and Methods: A large-scale and prospective investigation of HVS variants for low-risk singleton pregnant women was performed in three academic tertiary referral care centers in China. Ultrasound imaging wasused for the identification and follow-up of anatomical variants. Follow-up was conducted once every four weeks prenatally and every two months postnatally, mainly concerned on the adverse events that may appear.Results: There were 20848 cases with anatomical variants of fetal HVS identified from 46179 candidates during the study period. Following the anatomical position of variants occurring, four main divisions were present: main portal vein variants (17.9%), intrahepatic portal vein variants (21.30%), intrahepatic persistent right umbilical vein (0.27%) and hepatic vein variants (5.67%). In the fetal period, the pregnancy of all cases was normally continued, except that the pregnancy of two cases, which were associated with multiple anomalies and were terminated by their parents. After birth, approximately 99.47% of the cases with isolated variants orbeing associated no clinic significant anomalies were normally alive. Approximately 0.50% cases were associated with simple ventricular septum defect or tetralogy of Fallot and further treatment was needed.Conclusion: The anatomical variants of fetal HVS may appear as numerical, morphological or positional variants of MPV, intrahepatic PV branches, intrahepatic PRUV and HVs. The majority of cases are isolated or their associated anomalies are not clinically significant and have normal lifeafter birth. [ABSTRACT FROM AUTHOR]

Objectives: To analyze the imaging manifestations of common fetal oral masses by ultrasound combined with magnetic resonance imaging (MRI) and to discuss their differential diagnoses. Methods: A retrospective study of 6 fetuses with oral masses was performed at a tertiary referral center. The imaging features of prenatal ultrasonography and MRI in the diagnosis of fetal oral masses were analyzed. Results: Histopathological examination and/or postpartum ultrasound revealed lymphangioma malformation in 2 fetuses, and mucosal retention cyst, mature teratoma, immature teratoma, and cranial meningocele in 1 fetus, respectively. The teratoma had a characteristic sonographic appearance. In our study, the 4 cases of cystic masses did not have an abnormal vessel architecture. Supplemental MRI revealed a mass effect at the level of the hypopharynx, and in 2 cases with polyhydramnios, the mass obstructed the fetuses' upper airway. Thus, ex‐utero intrapartum therapy surgery was performed to secure the newborn's airway. Conclusions: Oral fetal tumors represent rare congenital malformations. This study shows that a prenatal diagnosis of oral masses is feasible by ultrasound examination. MRI can further confirm the results of ultrasonography and clearly show the relationship between the mass and the hypopharynx. Ultrasonography combined with MRI could, to a large extent, facilitate early detection and appropriate treatment and improve outcome. [ABSTRACT FROM AUTHOR]

The evolution of ultrasound and the introduction of 3- and 4-dimensional ultrasound techniques led to a shift in the perception and usage of ultrasound in fetal medicine. The biplane mode might help in multiple fetal procedures, including but not limited to basic intrauterine thoracocentesis, thoracoamniotic shunting, amnioreduction, amnioinfusion, cordocentesis, intraumbilical infusion, and umbilical cord coagulation, with a possible reduction in the complication rate. Despite its theoretical usefulness, more studies are required to assess the clinical importance of this technique. [ABSTRACT FROM AUTHOR]

Background: Roberts syndrome (RBS) is a rare autosomal recessive disorder caused by variations in the ESCO2 gene; however, prenatal diagnosis of RBS has never been reported in Chinese families. Additionally, fetal-specific phenotypic characteristics associated with ESCO2 variants have not been reported. Case presentation: A fetus in a healthy, nonconsanguineous Chinese family with multiple serious congenital malformations was diagnosed prenatally. Two consecutive fetuses in this family presented with tetraphocomelia, growth restriction, cleft lip and palate bilaterally, and other abnormalities. The main phenotypic characteristics of this case were strongly suspected to be associated with RBS. Finally, whole exome sequence analysis revealed the insertion of a homozygous base pair in exon 6 of the ESCO2 gene (NM_001017420.3, c.1111insA, NP_001017420.1, p.Thr371fs). Both of the couples were heterozygous carriers for this variant. Conclusion: We are the first to report a prenatal case of RBS diagnosed in a Chinese family. Here, we have confirmed that the rare variant is a definite pathogenic variant, and we provide detailed phenotypic characteristics for the prenatal diagnosis of RBS due to this causative variant. [ABSTRACT FROM AUTHOR]

We present a case of Klippel-Feil Syndrome, a congenital skeletal defect where multiple cervical vertebral bodies are fused. Klippel-Feil Syndrome has multiple associated anomalies, with a notable one being Sprengel's deformity. In this case, the patient was given a diagnosis of Klippel-Feil Syndrome prenatally after suspected cervical vertebrae fusion and Sprengel's deformity were seen on both fetal magnetic resonance imaging (MRI) and ultrasound. Prenatal diagnosis of Sprengel's deformity has been reported once in the literature. In this report, we present imaging findings of Sprengel's deformity seen in association with Klippel-Feil Syndrome using a combination of fetal ultrasound and MRI. • Klippel-Feil Syndrome (KFS) is a defect featuring fusion of cervical vertebrae. • Sprengel's deformity should be suspected in cases of KFS. • Prenatal 3D ultrasound and MRI showed Sprengel's deformity and omovertebral bone. [ABSTRACT FROM AUTHOR]

Soft markers were originally introduced to prenatal ultrasonography to improve the detection of trisomy 21 over that achievable with age-based and serum screening strategies. As prenatal genetic screening strategies have greatly evolved in the last 2 decades, the relative importance of soft markers has shifted. The purpose of this document is to discuss the recommended evaluation and management of isolated soft markers in the context of current maternal serum screening and cell-free DNA screening options. In this document, "isolated" is used to describe a soft marker that has been identified in the absence of any fetal structural anomaly, growth restriction, or additional soft marker following a detailed obstetrical ultrasound examination. In this document, "serum screening methods" refers to all maternal screening strategies, including first-trimester screen, integrated screen, sequential screen, contingent screen, or quad screen. The Society for Maternal-Fetal Medicine recommends the following approach to the evaluation and management of isolated soft markers: (1) we do not recommend diagnostic testing for aneuploidy solely for the evaluation of an isolated soft marker following a negative serum or cell-free DNA screening result (GRADE 1B); (2) for pregnant people with no previous aneuploidy screening and isolated echogenic intracardiac focus, echogenic bowel, urinary tract dilation, or shortened humerus, femur, or both, we recommend counseling to estimate the probability of trisomy 21 and a discussion of options for noninvasive aneuploidy screening with cell-free DNA or quad screen if cell-free DNA is unavailable or cost-prohibitive (GRADE 1B); (3) for pregnant people with no previous aneuploidy screening and isolated thickened nuchal fold or isolated absent or hypoplastic nasal bone, we recommend counseling to estimate the probability of trisomy 21 and a discussion of options for noninvasive aneuploidy screening through cell-free DNA or quad screen if cell-free DNA is unavailable or cost-prohibitive or diagnostic testing via amniocentesis, depending on clinical circumstances and patient preference (GRADE 1B); (4) for pregnant people with no previous aneuploidy screening and isolated choroid plexus cysts, we recommend counseling to estimate the probability of trisomy 18 and a discussion of options for noninvasive aneuploidy screening with cell-free DNA or quad screen if cell-free DNA is unavailable or cost-prohibitive (GRADE 1C); (5) for pregnant people with negative serum or cell-free DNA screening results and an isolated echogenic intracardiac focus, we recommend no further evaluation as this finding is a normal variant of no clinical importance with no indication for fetal echocardiography, follow-up ultrasound imaging, or postnatal evaluation (GRADE 1B); (6) for pregnant people with negative serum or cell-free DNA screening results and isolated fetal echogenic bowel, urinary tract dilation, or shortened humerus, femur, or both, we recommend no further aneuploidy evaluation (GRADE 1B); (7) for pregnant people with negative serum screening results and isolated thickened nuchal fold or absent or hypoplastic nasal bone, we recommend counseling to estimate the probability of trisomy 21 and discussion of options for no further aneuploidy evaluation, noninvasive aneuploidy screening through cell-free DNA, or diagnostic testing via amniocentesis, depending on clinical circumstances and patient preference (GRADE 1B); (8) for pregnant people with negative cell-free DNA screening results and isolated thickened nuchal fold or absent or hypoplastic nasal bone, we recommend no further aneuploidy evaluation (GRADE 1B); (9) for pregnant people with negative serum or cell-free DNA screening results and isolated choroid plexus cysts, we recommend no further aneuploidy evaluation, as this finding is a normal variant of no clinical importance with no indication for follow-up ultrasound imaging or postnatal evaluation (GRADE 1C); (10) for fetuses with isolated echogenic bowel, we recommend an evaluation for cystic fibrosis and fetal cytomegalovirus infection and a third-trimester ultrasound examination for reassessment and evaluation of growth (GRADE 1C); (11) for fetuses with an isolated single umbilical artery, we recommend no additional evaluation for aneuploidy, regardless of whether results of previous aneuploidy screening were low risk or testing was declined. We recommend a third-trimester ultrasound examination to evaluate growth and consideration of weekly antenatal fetal surveillance beginning at 36 0/7 weeks of gestation (GRADE 1C); (12) for fetuses with isolated urinary tract dilation A1, we recommend an ultrasound examination at ≥32 weeks of gestation to determine if postnatal pediatric urology or nephrology follow-up is needed. For fetuses with urinary tract dilation A2-3, we recommend an individualized follow-up ultrasound assessment with planned postnatal follow-up (GRADE 1C); (13) for fetuses with isolated shortened humerus, femur, or both, we recommend a third-trimester ultrasound examination for reassessment and evaluation of growth (GRADE 1C). [ABSTRACT FROM AUTHOR]

Objective: Congenital dacryocystocele is a rare benign disease that presents as a cystic mass on the lacrimal sac at birth. These lesions, which are usually detected incidentally at 30 weeks of gestation, may cause parental anxiety if the prenatal diagnosis is uncertain. Case: A 23-years-old, 32 weeks and 1 day G3P1T1Y1 patient was referred to our outpatient clinic due to a cystic lesion on the fetal face. The patient's history was unremarkable and no consanguinity with her wife. In the ultrasound of the patient, a well-defined, thin-walled, 12x10 mm, anechoic cystic structure was observed on the medial side of the right eyeball of the fetus(fıgure 1). Evaluated in favor of dacryocystocele. There were no additional ultrasonographic features. TORCH infection were negative. The patient's NIPT test result, which was performed at an external center at the 15th week of pregnancy due to maternal anxiety, was normal karyotype. Fetal Magnetic Resonance (MR) imaging result was reported as consistent with dacryocystocele. The pregnancy of the patient continues at 38 weeks and she is followed up by our clinic. There is no change in lesion size and appearance. Conclusion: The canalization of the lacrimal duct begins around the 12th week and is not completed until the 24th week. Therefore, fetal ultrasound scans before 27 weeks of gestation are usually normal in these cases. Congenital dacryocystocele diagnosed prenatally may resolve spontaneously before birth. In rare cases, a dacryocytocele may be associated with other genetic or anatomical anomalies. It is important to rule out other causes of periorbital cystic lesions. Atypical cases may benefit from MRI. Although congenital dacryocystoceles are benign, newborns must breathe through the nose, and when the lesions are large and occur bilaterally, the obstruction may cause respiratory distress in the newborn. A better understanding of prenatal sonographic findings can help optimize perinatal care of potentially affected fetuses and appropriately orient their parents. [ABSTRACT FROM AUTHOR]

Objective: The corpus callosum is the commissural fiber bundle that carries motor, sensory and cognitive information between the two hemispheres of the brain. Anomalies affecting the corpus callosum are complete or partial agenesis, dysgenesis or hypoplasia.[1] Partial or complete agenesis of the corpus callosum indicates the absence of these commissural fiber bundles.[1] The development of the corpus callosum begins at the 8th gestational week and is completed at the prenatal 18th-19th week, although its postnatal maturation and development continues.[2] The prevalence of corpus callosum agenesis at birth has been reported between 1:2000 and 1:5000 in various studies.[3,4] This rate has been reported as 2-3% in fetuses with developmental delay.[4] This malformation can be seen in isolation or may occur due to chromosomal anomalies, syndromes, infections, teratogenic agents or ischemic causes.[1,5] Whether the corpus callosum agenesis is complete or partial has various clinical consequences. Although epilepsy, motor impairment and mental retardation can be observed, asymptomatic cases are more common, but neurodevelopmental outcomes are worse in the presence of accompanying anomalies.[1,5] Ultrasound and MRI images are characteristic in corpus callosum agenesis. In partial agenesis, the posterior segment of the corpus callosum is usually absent. In complete agenesis, the absence of the cavum septum pellucidum in the second trimester ultrasound raises suspicion.[5] Another finding that raises suspicion is the shape and size of the lateral ventricles, typically called "teardrops", which is the enlargement of the occipital horn compared to the frontal horn.[1] Since the etiology of corpus callosum agenesis is heterogeneous, genetic tests, family history, accompanying minor and major anomalies may be helpful in the differential diagnosis. Fetal MRI can be very useful, especially in the presence of accompanying additional brain anomalies.[1] In this case, the findings of the detection of partial corpus callosum agenesis by ultrasound findings and follow-up throughout pregnancy are presented. Methods: Computer-based, laboratory and ultrasonography records of a case of corpus callosum agenesis who applied to the Perinatology outpatient clinic of Prof. Dr. Cemil Taşçıoğlu City Hospital for the first time at the 23rd week of pregnancy were scanned retrospectively from the hospital software and the history of the ultrasonography device. Fetal ultrasonography examination was performed using Mindray Resona 7 device and its 1.2-6 MHz convex abdominal probe. Ultrasonography, laboratory, amniocentesis findings and patient history were noted. Case: 36-year-old primigravid pregnant woman without follow-up was admitted to our hospital for secondtrimester ultrasound at the age of 23 weeks and 4 days. In the first ultrasound examination, the transcerebellar diameter was 23.7mm, the cisterna magna was 4.9mm, the nuchal fold thickness was 5.6mm, and the nasal bone was 8.5mm. Ultrasonography revealed a trilaminar appearance and the transverse diameter of the cavum septum pellicidum was larger than the anteroposterior diameter (Figure 1-3). In the sagittal section, a structure thought to be the anterior part of the corpus callosum with a length of 10.5 mm and a width of 1.7 mm was observed, Doppler evaluation was also suitable for the anterior part (Figure 1,2). The structure thought to be the genus of the corpus callosum was observed in the coronal section. It was evaluated as partial agenesis of the corpus callosum. No additional anomaly was observed in the ultrasonographic examination. The patient was informed about amniocentesis. Amniocentesis was performed at 23 weeks and 5 days of age. Amniocentesis culture result was reported as 46 chromosomes, array result arr(-,1-22)x2 pathogenic or possibly pathogenic copy number variant was not detected. The patient was referred to the Department of Medical Genetics and received genetic counseling. The chromosomal analysis results of the mother and father were normal. Postnatal Pediatric Neurology control was recommended. The patient was admitted to our hospital due to premature rupture of membranes at 37 weeks and 3 days of gestation, and a 2995 g male baby was delivered live by cesarean section for the patient who developed fetal distress during labor followup. In the postnatal examinations, the baby was observed to be hypotonic and was intubated. It was observed that he had problems in spontaneous breathing when he left the intubation. Prenatal diagnosis was confirmed by cranial USG. Results: Corpus callosum agenesis is a rare congenital anomaly. Corpus callosum agenesis may be complete or partial, or may accompany chromosomal abnormalities or other syndromes. Since such patients require a multidisciplinary approach, they should be followed in tertiary centers. In addition to the second-trimester ultrasound examination, invasive tests should be performed, karyotyping and array should be checked, and the TORCH panel should be seen to investigate fetal infections. Fetal MRI may be particularly useful in detecting additional anomalies. The family should be informed as best as possible, as there is a wide variation in prognosis from asymptomatic to syndromes with poor prognosis. The location of detailed fetal cranial ultrasonography is very important in the diagnosis. In the case we presented, the diagnosis of partial corpus callosum agenesis was made in the late period of detailed fetal ultrasonography. Conclusion: These patients should be followed up in centers with adequate technical facilities, experienced maternal and fetal medicine and perinatology specialists and a multidisciplinary approach, and the family should be informed in detail. [ABSTRACT FROM AUTHOR]

Objective: The gallbladder is an organ that resembles a pear in shape and serves to store bile. Numerous anomalies and variations have been described regarding the location, shape, number and size of the gallbladder. Starting from the 4th week of pregnancy, the liver, gallbladder and bile ducts emerge as ventral buds from the most caudal part of the foregut.[1] In the embryological period, the folding of the fundus of the gallbladder causes the appearance of an image called the Phrygian cap on ultrasound. Phrygian cap is the most common congenital anomaly of the gallbladder and can be confused with a liver mass or gallbladder duplication ultrasonographically. The frequency of the Phrygian cap has been reported as 1-6%.[2-4] The Phrygian cap is not pathologically significant, but it is important to distinguish it from other possible diagnoses ultrasonographically in the antenatal period.[5] We aimed to share our case diagnosed with ultrasonography in the antenatal period, accompanied by bilateral pelviectasis, and the management of the case. Methods: Computer-based and ultrasonography records of the case with Phrygian cap and pelviectasis, who applied to the Perinatology outpatient clinic of Prof. Dr. Cemil Taşçıoğlu City Hospital at the 20th week of pregnancy, were scanned retrospectively from the hospital system and the history of the ultrasonography device. Fetal ultrasonography examination and abdominal ultrasonography during the neonatal period were performed using Mindray Resona 7 device and its 1.2-6 diagnostic procedures may be offered to parents after satisfactory genetic counselling. Some of these subtle signs may come out as rare karyotype abnormalities of varying severity and significance. [ABSTRACT FROM AUTHOR]

X-linked Opitz G/BBB syndrome (XLOS) is a multiple congenital disorder inherited in an X-linked manner. XLOS may be suspected, in prenatal age, on the basis of sonographic findings in the second and/or third trimester of gestation. Pathogenetic variants in MID1 gene have been reported in individuals with XLOS. Prenatal genetic testing is offered for pregnancies at risk, in which the mutation in the family has been identified. To date no cases of prenatal diagnosis, based on first-trimester ultrasound data, have been reported. We present a case of a fetus at 12 gestational weeks with ultrasound multiple anomalies, including increased nuchal translucency, heart defects, cleft lip and palate, enlarged fourth ventricle absence of ductus venosus and family hystory of XLOS. The genetic prenatal test detected the c(0).1286-1G > T mutation of MID1 gene. Data about prenatal ultrasonographic findings consistent with XLOS are limited to second and third trimester. This is the first case reporting ultrasound detectable midline defects suggestive of XLOS as early as the first trimester of gestation. This case also suggests that when multiple anomalies are detected in a fetus with normal chromosomal structure, the possibility of a monogenic disorder must be considered. [ABSTRACT FROM AUTHOR]

Purpose: To analyze the risk for clinically significant microarray aberrations in pregnancies with polyhydramnios.Methods: Data from all chromosomal microarray analyses (CMA) performed due to polyhydramnios between January 2013 and December 2019 were retrospectively obtained from the Ministry of Health Database. The rate of clinically significant (pathogenic and likely pathogenic) CMA findings in isolated and non-isolated polyhydramnios cohorts was compared to a local control group of 5541 fetuses with normal ultrasound, in which 78 (1.4%) abnormal results were demonstrated. Subgroup analyses were performed by the degree of polyhydramnios, week of diagnosis, maternal age, and the presence of additional sonographic anomalies.Results: In the isolated polyhydramnios cohort, 19/623 (3.1%) clinically significant CMA aberrations were noted, a significantly higher rate compared to the control population. However, the risk for abnormal CMA results in the 158 cases with mild polyhydramnios (AFI 25-29.9, or maximal vertical pocket 8-11.9 cm) did not significantly differ from pregnancies with normal ultrasound. Of 119 cases of non-isolated polyhydramnios (most frequently associated with cardiovascular (26.1%) and brain (15.1%) anomalies), 8 (6.7%) abnormal CMA findings were noted, mainly karyotype-detectable.Conclusion: Mild polyhydramnios was not associated with an increased rate of clinically significant microarray results, compared to pregnancies with normal ultrasound. An extensive anatomical sonographic survey should be performed in pregnancies with polyhydramnios, with consideration of fetal echocardiography. [ABSTRACT FROM AUTHOR]

Background: This report evaluates results of a screening program on prenatal detection of congenital heart defects in a geographical cohort of western Sweden between January 1st, 2013 and June 31st, 2017. During the study period 88,230 children were born in VGR.Methods: Retrospective data on pregnant women from the Västra Götaland region that were referred to fetal cardiologists in Gothenburg were retrieved. To determine prenatal detection rate, all neonates who underwent surgery or catheter intervention for a critical congenital heart defect born between January 1st, 2014 and December 31st, 2016 were included. The four-chamber view was implemented into the routine scan in 2009 and implementation of the ISUOG guidelines, including the outflow tracts, started in the region in 2015.Results: 113 fetuses received a prenatal diagnosis of a major congenital heart defect. 89% of these were referred because of a suspected cardiac malformation and 88% were diagnosed before 22 completed weeks. 59% of the patients diagnosed before 22 completed weeks opted for termination of pregnancy. During 2014-2016, 61 fetuses had a prenatal diagnosis of a critical congenital heart defect and a further 47 were diagnosed after birth, hence 56% were diagnosed prenatally, 82% for those which had a combination with an extracardiac abnormality and/or chromosomal aberration compared to 50% if an isolated critical congenital heart defect was diagnosed. For single ventricle cardiac defects such as hypoplastic left heart syndrome, double inlet left ventricle and tricuspid atresia, the detection rate was 100%. The detection rate for transposition of the great arteries and coarctation of the aorta was 9 and 18% respectively.Conclusions: 56% of all fetuses with a critical congenital heart defect were diagnosed prenatally during 2014-2016 and approximately 53% of all major congenital heart defects 2013-2017 as compared to 13.8% in 2009 in the same region. An increased focus towards the fetal heart in the routine scan improved the prenatal detection rate of major congenital heart defects. The detection of congenital heart defects affecting the four-chamber view seems sufficient, but more training is needed to improve the quality of the examination of the outflow tracts. [ABSTRACT FROM AUTHOR]

Background: Simpson–Golabi–Behmel syndrome type 1 (SGBS1) is a rare X‐linked recessive disorder characterized by pre‐ and postnatal overgrowth and a broad spectrum of anomalies including craniofacial dysmorphism, heart defects, renal, and genital anomalies. Due to the ultrasound findings are not pathognomonic for this syndrome, most clinical diagnosis of SGBS1 are made postnatally. Methods: A pregnant woman with abnormal prenatal sonographic findings was advised to perform molecular diagnosis. Single nucleotide polymorphism array (SNP array) was performed in the fetus, and the result was validated with multiplex ligation‐dependent probe amplification (MLPA) and real‐time quantitative PCR (qPCR). Results: The prenatal sonographic presented with increased nuchal translucency at 13 gestational weeks, and later at 21 weeks with cleft lip and palate, heart defect, increased amniotic fluid index and over growth. A de novo 370Kb‐deletion covering the 5′‐UTR and exon 1 of GPC3 gene was detected in the fetus by SNP array, which was subsequently confirmed by MLPA and qPCR. Conclusion: The de novo 370Kb hemizygous deletion of 5′‐UTR and exon 1 of GPC3 results in the SGBS1 of this Chinese family. Combination of ultrasound and genetics tests helped us effectively to diagnose the prenatal cases of SGBS1. Our findings also enlarge the spectrum of mutations in GPC3 gene. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the prognosis of fetuses with a prenatal diagnosis of micrognathia in the first trimester.Study Design: Over a 3-year period, patients with fetal micrognathia were detected at the time of nuchal translucency screening. The medical records of these pregnancies were reviewed, including maternal demographics, sonographic findings, genetic testing results and pregnancy outcomes.Results: Forty-three cases of first-trimester micrognathia were included in this study. Chromosomal abnormalities were detected in seven cases. Of the fetuses with a normal array, further investigation of monogenic disorders with whole-exome sequencing was undertaken in 13 cases. Monogenic syndromes were identified in eight cases, including six with de-novo dominant alleles and two with recessive conditions. Whole-exome sequencing was refused in 23 cases; among these, other additional anomalies were found on anatomic ultrasound in 10 cases.Conclusion: This study demonstrated that caution should be adopted when finding an apparently isolated micrognathia in early gestation, even with a normal array. A diagnosis of genetic syndrome or multiple anomalies on subsequent scans is most likely, and will affect the final prognosis. [ABSTRACT FROM AUTHOR]

Objective: Only a small number of reports have been made on the prenatal ultrasound findings observed in 1p36 deletion syndrome. We explored prenatal diagnosis of 1p36 deletion by ultrasound as well as chromosomal microarray (CMA), and delineated the fetal presentation of this syndrome.Study Design: This was a retrospective analysis of 10 new prenatal cases of 1p36 deletion identified by CMA at a single Chinese medical center. Clinical data were reviewed for these cases, including maternal demographics, indications for invasive testing, sonographic findings, CMA results and pregnancy outcomes.Results: One case was diagnosed because of a positive cell-free DNA (cfDNA) testing result for terminal 1p deletion, and the remaining nine cases were identified because of an abnormal ultrasound findings, including early miscarriage, structural abnormalities and fetal growth restriction. CMA revealed 1p36 deletions to be terminal in six cases, and interstitial in four cases. Deletion sizes ranged from 1.7 to 42.7 Mb.Conclusions: Prenatal findings such as cardiac malformations, especially Ebstein anomaly, and fetal growth retardation should warrant the diagnosis of 1p36 deletion and invasive genetic testing using CMA. [ABSTRACT FROM AUTHOR]

Objectives: A classification termed umbilical‐portal‐systemic venous shunt (UPSVS) for an abnormal umbilical vein (UV), portal vein (PV), and ductus venosus (DV) was proposed recently. According to this classification, there are 3 types of UPSVSs: types I, II, and III. Trisomy 21 associated with UV‐PV‐DV anomalies has been described, but the incidence of trisomy 21 in UPSVS cases, the relationship between UPSVS types and trisomy 21, and the pregnancy outcome are poorly documented. This study aimed to address these issues. Methods: All UPSVS cases diagnosed at our department from 2016 to 2019 were retrospectively studied. The English literature describing UV‐PV‐DV anomalies and trisomy 21 from 2000 to 2019 was searched, and the retrieved cases were analyzed. Results: Four of 20 UPSVS cases identified by us also had trisomy 21, with 2 type I and 2 type II UPSVSs. Ultrasound markers of Down syndrome were observed in all 4 cases that underwent termination of pregnancy (TOP). The literature search retrieved 12 reports including 279 patients, with 29 also having trisomy 21, giving a pooled trisomy 21 incidence rate of 10.4%. Of the 29 cases, 16 had type I, and 9 had type II, whereas UPSVS types in 4 were undeterminable, and 22 cases underwent TOP. Conclusions: There is a high incidence of trisomy 21 in UPSVS cases. Trisomy 21 is associated with a type I or II UPSVS. Most cases with the combined defect underwent TOP. These findings may be used to direct prenatal counseling and management of the combined condition. Access the CME test here and search by article title. [ABSTRACT FROM AUTHOR]

Objective: To review the perinatal and long-term outcomes of symmetric and ventrally conjoined twins evaluated prenatally by ultrasound and fetal magnetic resonance imaging (MRI).Methods: From March 2010 to January 2019, cases of symmetric and ventrally conjoined twins, who were prenatally diagnosed and referred to the Clínica Diagnóstico por Imagem (CDPI), Rio de Janeiro, Brazil, for prenatal evaluation by ultrasound and MRI were selected. The postnatal information was collected from hospitals where the twins were born and/or treated and from parents' verbal and written information.Results: Four cases of symmetrical and ventrally conjoined twins were selected. Of these, two were omphalopagi and two thoracopagi. One pair of thoracomphalopagus died early in utero and the other died 6 days after birth. The outcome of the two omphalopagus pairs were separation in emergency surgeries after birth, with neonatal demise of one of the twins due to congenital malformations. In cases of omphalopagi, fetal MRI presented important information of the twins' anatomy before emergency separation of both pairs.Conclusion: Despite the apparently similar conditions of twins with ventral fusion, ventrally attached twins have very different outcomes, most adverse for thoracomphalopagus and related to the singular anatomy of the pair, associated malformations and the extension of the adhesion, requiring individual evaluation of the cases. Fetal MRI is as an important tool for the postnatal surgery management of twin neonates, providing crucial information in cases where urgent separation is required. [ABSTRACT FROM AUTHOR]

Objective: To elucidate the risk factors, histopathological correlations and diagnostic accuracy of prenatal imaging in pregnancies complicated by posterior placenta accreta spectrum (PAS) disorders.Methods: MEDLINE, EMBASE and CINAHL were searched for studies reporting on women with posterior PAS. Inclusion criteria were women with posterior PAS confirmed either at surgery or on histopathological analysis. The outcomes explored were risk factors for posterior PAS, histopathological correlation and the diagnostic accuracy of ultrasound and magnetic resonance imaging (MRI) in detecting posterior PAS. Random-effects meta-analysis of proportions was used to analyze the data.Results: Twenty studies were included. Placenta previa was present in 92.8% (107/114; 17 studies) of pregnancies complicated by posterior PAS, while 76.1% (53/88; 11 studies) of women had had prior uterine surgery, mainly a Cesarean section (CS) or curettage and 82.5% (66/77; 10 studies) were multiparous. When considering histopathological analysis in women affected by posterior PAS, 77.5% (34/44; 11 studies) had placenta accreta, 19.5% (8/44; 11 studies) had placenta increta and 9.3% (2/44; 11 studies) had placenta percreta. Of the cases of posterior PAS disorder, 52.4% (31/63; 12 studies) were detected prenatally on ultrasound, while 46.7% (32/63; 12 studies) were diagnosed only at birth. When exploring the distribution of the classic ultrasound signs of PAS, placental lacunae were present in 39.0% (12/30; seven studies), loss of the clear zone in 41.1% (13/30; seven studies) and bladder-wall interruption in 16.6% (4/30; seven studies) of women, while none of the included cases showed hypervascularization at the bladder-wall interface. When assessing the role of MRI in detecting posterior PAS, 73.5% (26/32; 11 studies) of cases were detected on prenatal MRI, while 26.5% (6/32; 11 studies) were discovered only at the time of CS.Conclusions: Placenta previa, prior uterine surgery and multiparity represent the most commonly reported risk factors for posterior PAS. Ultrasound had a very low diagnostic accuracy in detecting these disorders prenatally. © 2020 International Society of Ultrasound in Obstetrics and Gynecology. [ABSTRACT FROM AUTHOR]

Objective: Fetuses with genetic copy number variants are poorly detected through traditional prenatal screening. Microdeletions and duplications are clearly identified with diagnostic testing through chromosomal microarray, and screening of a select number of microdeletions has become available with cell-free DNA (cfDNA). Our study compares the costs and outcomes of cfDNA for five pathogenic microdeletions and aneuploidy to cfDNA for aneuploidy alone in conjunction with ultrasound.Methods: A decision-analytic model was constructed using TreeAge software to compare cfDNA with microdeletions versus traditional cfDNA in a theoretical cohort of 4,000,000 pregnancies that would also be screened with ultrasound. Probabilities, costs, and utilities were derived from literature. The primary outcomes were the incremental cost per quality-adjusted life-year (QALY), terminations, and procedure-related losses. Because the microdeletion results are available, but not reported, on all cfDNA testing we set the incremental cost of the cfDNA microdeletion screening test to zero at baseline and varied the cost in sensitivity analysis.Results: Screening with cfDNA for microdeletions among all pregnant women would result in 83 fewer anomalous neonates compared to traditional cfDNA with ultrasound. This reduction is due to increased diagnosis and termination of fetuses with microdeletions in this group. Routine use of cfDNA with microdeletions resulted in more procedure-related losses. cfDNA with microdeletions would improve effectiveness by 977 QALYs and decrease costs by $90,991,784. When we varied the specificity of the screening test, we found that it remained cost-effective down to a specificity of 91%. With a threshold of $100,000/QALY, microdeletion screening is cost-effective to an incremental increase in cost over cfDNA for aneuploidy alone of $47.10.Conclusion: For detection of fetal subchromosomal abnormalities, use of cfDNA with microdeletions is a cost-effective strategy compared to cfDNA for aneuploidy alone in conjunction with ultrasound. Cell-free DNA for microdeletions is not currently recommended as routine screening for low-risk obstetric populations by the American College of Obstetrics and Gynecologists or the Society for Maternal-Fetal Medicine. The test characteristics of cfDNA with microdeletions require greater examination before being routinely recommended. [ABSTRACT FROM AUTHOR]

We present the prenatal imaging and whole exomics sequencing with the newly described Snijders Blok-Campeau macrocephaly syndrome. [ABSTRACT FROM AUTHOR]

Vasa praevia with meandering fetal vessels is extremely rare, and it is difficult to diagnose this prenatally. When cesarean section is performed, a change in the site of uterine incision may be required for a safe delivery. [ABSTRACT FROM AUTHOR]

Objective: To report the outcome of fetuses with congenital cytomegalovirus (CMV) infection and normal ultrasound at the time of diagnosis, and to evaluate the rate of an additional anomaly detected only on magnetic resonance imaging (MRI).Methods: Medline, EMBASE, CINAHL and Cochrane databases were searched for studies reporting on the outcome of fetuses with congenital CMV infection. Inclusion criteria were fetuses with confirmed CMV infection and normal ultrasound assessment at the time of the initial evaluation. The outcomes observed were an anomaly detected on a follow-up ultrasound scan, an anomaly detected on prenatal MRI but missed on ultrasound, an anomaly detected on postnatal assessment but missed prenatally, perinatal mortality, symptomatic infection at birth, neurodevelopmental outcome and hearing and visual deficits. Neurodevelopmental outcome was assessed only in cases of isolated CMV infection confirmed at birth. Subgroup analysis was performed according to the trimester in which maternal infection occurred. Random-effects meta-analysis of proportions was used to analyze the data.Results: Twenty-six studies were included, comprising 2603 fetuses with congenital CMV infection, of which 1178 (45.3%) had normal ultrasound at the time of diagnosis and were included in the analysis. The overall rate of an associated central nervous system (CNS) anomaly detected on a follow-up ultrasound scan was 4.4% (95% CI, 1.4-8.8%) (32/523; 15 studies), while the rates of those detected exclusively on prenatal MRI or on postnatal imaging were 5.8% (95% CI, 1.9-11.5%) (19/357; 11 studies) and 3.2% (95% CI, 0.3-9.0%) (50/660; 17 studies), respectively. The rate of an associated extra-CNS anomaly detected on a follow-up ultrasound scan was 2.9% (95% CI, 0.8-6.3%) (19/523; 15 studies), while the rates of those detected exclusively on MRI or on postnatal imaging were 0% (95% CI, 0.0-1.7%) (0/357; 11 studies) and 0.9% (95% CI, 0.3-1.8%) (4/660; 17 studies), respectively. Intrauterine death and perinatal death each occurred in 0.7% (95% CI, 0.3-1.4%) (2/824; 23 studies) of cases. In cases without an associated anomaly detected pre- or postnatally, symptomatic infection was found in 1.5% (95% CI, 0.7-2.7%) (6/548; 19 studies) of infants, the overall rate of a neurodevelopmental anomaly was 3.1% (95% CI, 1.6-5.1%) (16/550; 19 studies), and hearing problems affected 6.5% (95% CI, 3.8-10.0%) (36/550; 19 studies) of children. Subanalyses according to the trimester in which maternal infection occurred were affected by the very small number of included cases and lack of comparison of the observed outcomes in the original studies. Compared with fetuses infected in the second or third trimester, those infected in the first trimester had a relatively higher risk of having an additional anomaly detected on follow-up ultrasound or MRI, abnormal neurodevelopmental outcome and hearing problems.Conclusions: In fetuses with congenital CMV infection in which no anomalies are detected on prenatal ultrasound or MRI, the risk of adverse postnatal outcome is lower than that reported previously in the published literature when not considering the role of antenatal imaging assessment. The results from this review also highlight the potential role of MRI, even in fetuses with no anomalies detected on ultrasound, as an anomaly can be detected exclusively on MRI in about 6% of cases. The findings from this study could enhance prenatal counseling of pregnancies with congenital CMV infection with normal prenatal imaging. © 2020 International Society of Ultrasound in Obstetrics and Gynecology. [ABSTRACT FROM AUTHOR]

Introduction: In cases of placenta accreta spectrum, a precise antenatal diagnosis of the suspected degree of invasion is essential for the planning of individual management strategies at delivery. The aim of this work was to evaluate the respective performances of ultrasonography and magnetic resonance imaging for the antenatal assessment of the severity of placenta accreta spectrum disorders included in the database. The secondary objective was to identify descriptors related to the severity of placenta accreta spectrum disorders.Material and Methods: All the cases included in the database for which antenatal imaging data were available were analyzed. The rates of occurrence of each ultrasound and magnetic resonance imaging descriptor were reported and compared between the Group "Accreta-Increta" (FIGO grades 1 & 2) and the Group "Percreta" (FIGO grade 3).Results: Antenatal imaging data were available for 347 women (347/442, 78.5%), of which 105 were included in the Group "Accreta - Increta" (105/347, 30.2%) and 213 (213/347, 61.4%) in the Group "Percreta". Magnetic resonance imaging was performed in addition to ultrasound in 135 women (135/347, 38.9%). After adjustment for all ultrasound descriptors in multivariate analysis, only the presence of a bladder wall interruption was associated with a significant higher risk of percreta (Odds ratio 3.23, Confidence interval 1.33-7.79). No magnetic resonance imaging sign was significantly correlated with the degree of severity.Conclusions: The performance of ultrasound and magnetic resonance imaging to discriminate mild from severe placenta accreta spectrum disorders is very poor. To date, the benefit of additional magnetic resonance imaging has not been demonstrated. [ABSTRACT FROM AUTHOR]