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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]

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: Congenital defects/diseases. Background: Congenital malformations of the alimentary tract constitute 5% to 6% of newborn anomalies, with congenital intestinal atresia being a common cause of alimentary tract obstruction. This study explores advanced ultrasound diagnostic possibilities, including 2D, HDlive, HDlive inversion, and HDlive silhouette imaging modes, through the analysis of 3 cases involving duodenal and intestinal obstructions. Congenital malformations of the alimentary tract often present challenges in prenatal diagnosis. The most prevalent defect is congenital intestinal atresia leading to alimentary tract obstruction, with an incidence of approximately 6 in 10 000 births. We focused on advanced ultrasound diagnostic techniques and their applications in 3 cases of duodenal and intestinal obstructions. Case Reports: Three cases were examined using advanced ultrasound imaging modes. The first patient, diagnosed at week 35 of gestation, revealed stomach and duodenal dilatation. The second, identified at week 32, had the characteristic "double bubble" symptom. The third, at week 31, also had double bubble symptom and underwent repeated amnioreduction procedures. HDlive, HDlive inversion, and HDlive silhouette modes provided intricate visualizations of the affected organs. Prenatal diagnosis of alimentary tract obstruction relies on ultrasound examinations, with nearly 50% of cases being diagnosed before birth. Conclusions: Advanced ultrasound imaging modes, particularly HDlive silhouette, play a crucial role in diagnosing fetal alimentary tract obstruction. These modes offer detailed visualizations and dynamic evaluations, providing essential insights for therapeutic decisions. The study emphasizes the importance of sustained fetal surveillance, a multidisciplinary approach, and delivery in a level III referral center to ensure specialized care for optimal outcomes. [ABSTRACT FROM AUTHOR]

Objectives: This retrospective study aimed to assess disparities between prenatal ultrasound and autopsy findings in pregnancies that resulted in fetal loss, and to evaluate the diagnostic performance of prenatal ultrasound using postmortem examinations as a gold standard. Methods: Our study included 136 autopsy cases following a fetal loss that occurred at our tertiary medical center for 8 years. A comparison between the prenatal ultrasound and autopsy findings was made, and all cases were classified according to the degree of agreement. The diagnostic performance of prenatal ultrasound was calculated at the level of organ system and specific malformations. Results: The primary sonographic diagnosis was confirmed in 91.9% of the cases (n = 125). General agreement was highest among central nervous system (CNS), cardiovascular and musculoskeletal systems (85.7%, n = 36, 18, and 12, respectively) and lowest among facial, multiple anomalies, genitourinary and gastrointestinal systems (50.0%, 74.3%, 78.6%, and 80.0%, n = 2, 26, 11, and 4, respectively). The sensitivity of ultrasound was highest in the CNS (93.2%) and musculoskeletal (87.0%) and lowest in the facial (32.3%) and pulmonary (13.0%) systems. Specifically, low diagnostic rates were noted in detecting ventriculomegaly, valvular anomalies, renal dysplasia, spleen and adrenal anomalies, and digital and facial defects. Conclusions: Our study observed an overall high agreement between prenatal ultrasound and autopsy while contributing to our comprehensive understanding of its strengths and limitations across various types of organ systems and specific malformations. [ABSTRACT FROM AUTHOR]

Orofacial clefts are one of the most common congenital malformations. The prenatal diagnosis is often made in the second trimester of pregnancy as result of ultrasound examination of the midface on coronal and axial planes. However, the diagnosis in the first trimester is elusive due to the small size of the facial structures and technical limitations present at this early gestational age. In this Commentary, we suggest the routine systematic ultrasound identification of easy‐to‐obtain landmarks to improve the detection of cleft lip and cleft palate in the first trimester. These include, but are not limited to, visualization of the primary palate using the coronal plane of the face looking for disruption at the base of the retronasal triangle, and visualization of the palate using the sagittal plane looking for the maxillary gap and loss of the superimposed line. Early prenatal detection of orofacial clefts would allow a more detailed search for associated chromosomal anomalies or genetic syndromes. [ABSTRACT FROM AUTHOR]

Fetal development is a critical phase in prenatal care, demanding the timely identification of anomalies in ultrasound images to safeguard the well-being of both the unborn child and the mother. Medical imaging has played a pivotal role in detecting fetal abnormalities and malformations. However, despite significant advances in ultrasound technology, the accurate identification of irregularities in prenatal images continues to pose considerable challenges, often necessitating substantial time and expertise from medical professionals. In this review, we go through recent developments in machine learning (ML) methods applied to fetal ultrasound images. Specifically, we focus on a range of ML algorithms employed in the context of fetal ultrasound, encompassing tasks such as image classification, object recognition, and segmentation. We highlight how these innovative approaches can enhance ultrasound-based fetal anomaly detection and provide insights for future research and clinical implementations. Furthermore, we emphasize the need for further research in this domain where future investigations can contribute to more effective ultrasound-based fetal anomaly detection. [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]

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]

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]

Introduction: Prenatal ultrasound (US) anomalies are detected in around 5%–10% of pregnancies. In prenatal diagnosis, exome sequencing (ES) diagnostic yield ranges from 6% to 80% depending on the inclusion criteria. We describe the first French national multicenter pilot study aiming to implement ES in prenatal diagnosis following the detection of anomalies on US. Patients and methods: We prospectively performed prenatal trio-ES in 150 fetuses with at least two US anomalies or one US anomaly known to be frequently linked to a genetic disorder. Trio-ES was only performed if the results could influence pregnancy management. Chromosomal microarray (CMA) was performed before or in parallel. Results: A causal diagnosis was identified in 52/150 fetuses (34%) with a median time to diagnosis of 28 days, which rose to 56/150 fetuses (37%) after additional investigation. Sporadic occurrences were identified in 34/56 (60%) fetuses and unfavorable vital and/or neurodevelopmental prognosis was made in 13/56 (24%) fetuses. The overall diagnostic yield was 41% (37/89) with first-line trio-ES versus 31% (19/61) after normal CMA. Trio-ES and CMA were systematically concordant for identification of pathogenic CNV. Conclusion: Trio-ES provided a substantial prenatal diagnostic yield, similar to postnatal diagnosis with a median turnaround of approximately 1 month, supporting its routine implementation during the detection of prenatal US anomalies. [ABSTRACT FROM AUTHOR]

Objectives: To describe ultrasound features of fetal ovarian cysts as reported by the original ultrasound examiner, to apply International Ovarian Tumor Analysis (IOTA) terminology after retrospective analysis of the images and to describe patient management and evolution of fetal cysts during pregnancy and after delivery. Methods: This retrospective observational study included pregnant women diagnosed on ultrasound examination with a fetal ovarian cyst at the Prenatal Diagnosis Division of the Bambino Gesù Children's Hospital, in Rome, between March 2011 and May 2020. Cysts were classified by the original ultrasound examiner as 'simple' (unilocular anechoic cyst) or 'complex' (cyst with other morphology). In addition, three ultrasound examiners, experienced in gynecologic ultrasound, classified retrospectively the fetal ovarian cysts according to IOTA terminology, by reviewing stored ultrasound images. The evolution of these fetal ovarian cysts during pregnancy and after birth was recorded. Results: Included were 51 ovarian cysts in 48 fetuses. Of the 51 cysts, 29 (56.9%) had been classified by the original ultrasound examiner as 'simple', and 22 (43.1%) as 'complex'. Of the simple cysts, the majority (20/29 (69.0%)) resolved spontaneously after delivery, 2/29 (6.9%) resolved following intrauterine aspiration, 2/29 (6.9%) resolved after postnatal aspiration and 5/29 (17.2%) underwent surgery due to persistence after delivery; in all five, normal ovarian parenchyma without signs of necrosis was observed at histology. Of the complex cysts, 7/22 (31.8%) resolved spontaneously. The other 15/22 (68.2%) were removed surgically and, at histology, necrosis was observed in most (12/15 (80.0%)), while a benign epithelial cyst with normal ovarian parenchyma was observed in 3/15 (20%). After reviewing the ultrasound images and applying IOTA terminology, all 51 (100%) fetal cysts were described as unilocular; 29/51 (56.9%) cysts showed anechoic content (described as simple cysts by the original ultrasound examiner), and 10/51 (19.6%) had low‐level, 1/51 (2.0%) had ground‐glass, 9/51 (17.6%) had hemorrhagic, 1/51 (2.0%) had mixed and 1/51 (2.0%) had undefined content (all described as complex by the original ultrasound examiner). Among the 29 anechoic ovarian cysts, resolution was observed in most (24/29, 82.8%) cases. Similarly, resolution was observed in 7/10 (70.0%) cysts with low‐level content. Resolution was not observed in any of the other 12 cysts and all of these cases underwent surgery, with evidence of necrosis being observed in 11 (91.7%). Conclusions: Applying IOTA terminology provided a more detailed and accurate description of fetal ovarian cysts compared with the original classification into 'simple' and 'complex' categories. Anechoic cysts (described as simple cysts by the original ultrasound examiner) and cysts with low‐level content (described as complex by the original ultrasound examiner) frequently resolved spontaneously. Cysts with ground‐glass, hemorrhagic, mixed or undefined content were frequently associated with necrosis at histology following surgery. © 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]

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]

Background: Prenatal diagnosis of fetal short long bones (SLBs) was reported to be associated with skeletal dysplasias, chromosomal abnormalities, and genetic syndromes. This study aims to identify the genetic causes for fetal short long bones, and retrospectively evaluate the additional diagnostic yield of exome sequencing (ES) for short long bones following the use of conventional genetic testing. Methods: A cohort of ninety-four fetuses with sonographically identified short long bones was analyzed by trio-exome sequencing between January 2016 and June 2021. Fetuses with abnormal results of karyotype or chromosomal microarray analysis were excluded. Variants were interpreted based on ACMG/AMP guidelines. All diagnostic de novo variants were validated by Sanger sequencing. Results: Of the 94 fetuses, 38 (40.4%) were found to carry causal genetic variants (pathogenic or likely pathogenic) in sixteen genes with 38 variants. Five fetuses (5.3%) had variant(s) of uncertain significance. Thirty-five cases (37.2%) were diagnosed as genetic skeletal dysplasias including 14 different diseases that were classified into 10 groups according to the Nosology and Classification of Genetic Skeletal Disorders. The most common disease in the cohort was achondroplasia (28.9%), followed by osteogenesis imperfecta (18.4%), thanatophoric dysplasia (10.5%), chondrogenesis (7.9%), and 3-M syndrome (5.3%). The diagnostic yield in fetuses with isolated short long bones was lower than the fetuses with non-isolated short long bones, but not reached statistical significance (27.3% vs. 44.4%; p = 0.151). Whereas, the rate in the fetuses with other skeletal abnormalities was significantly higher than those with non-skeletal abnormalities (59.4% vs. 32.5%, p = 0.023), and the diagnostic rate was significantly higher in femur length (FL) below -4SDs group compared with FL 2-4SDs below GA group (72.5% vs. 16.7%; p < 0.001). A long-term follow-up showed that outcomes for fetuses with FL 2-4SDs below GA were significantly better than those with FL below -4SDs. Additionally, fourteen (36.8%) novel short long bones-related variants were identified in the present study. Conclusion: The findings suggest that in fetuses with short long bones routine genetic tests failed to determine the underlying causes, exome sequencing could add clinically relevant information that could assist the clinical management of pregnancies. Novel pathogenic variants identified may broaden the mutation spectrum for the disorders and contributes to clinical consultation and subsequent pregnancy examination. [ABSTRACT FROM AUTHOR]

Objective: SHOX haploinsufficiency have been commonly found in isolated short stature (ISS) and Léri–Weill dyschondrosteosis (LWD) patients. However, few publications have described the genetic analysis and clinical characteristics of fetuses with SHOX haploinsufficiency. Methods: Chromosomal microarray (CMA) were applied in 14,051 fetuses and sequentially whole exome sequence (WES) in 1340 fetuses who underwent prenatal diagnosis during 2016–2021. The analysis and summary of molecular genetics, sonographic characteristics, and follow-up results were performed in fetuses with SHOX haploinsufficiency without other genetic etiologies. A comparison was made between three groups according to prenatal diagnostic indications. Results: 8 (0.06%) fetuses of SHOX haploinsufficiency were all detected by CMA, of which 5 (62.5%) were detected with short long bones by ultrasound scan, and 4 were inherited from their previously undiagnosed parents. No pathogenic SHOX variants were found by WES. The detection rate of SHOX haploinsufficiency was obviously higher in the short long bone group (2.6%, 5/191) than the other abnormality group (0.03%, 1/3919) or no ultrasound abnormality group (0.02%, 2/9941). Three of the fetuses were liveborn with normal growth up to the age of four and four were terminated. Conclusion: The phenotype of fetuses with SHOX haploinsufficiency is highly varied. Over 1/3 of the cases exhibited no phenotype and nearly 2/3 with short long bones, in the absence of Madelung deformity during fetal development. SHOX haploinsufficiency should be considered in all antenatal presentations, especially in the case of isolated short long bones. CMA can provide effective detection. [ABSTRACT FROM AUTHOR]

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Background: Orofacial clefts (OFCs) are common craniofacial abnormalities. This study aimed to compare the diagnostic and predictive values of prenatal ultrasonography (US) and magnetic resonance imaging (MRI). Methods: We reviewed the newborn physical examinations or fetal autopsy data with OFCs. Between January 2013 and December 2018, the diagnoses resulting from prenatal US and MRI examination were compared retrospectively with the postpartum diagnoses. The diagnostic prediction of prenatal imaging was then determined. Results: 334 infants were identified with OFCs by either newborn physical exam or stillborn autopsy. For detection of OFCs by US, the total accuracy (ACC), true positive rate (TPR), true negative rate (TNR), positive predictive value (PPV), and negative predictive value (NPV) were 99.9% (111,178/110,286), 81.9% (230/281), 99.9% (109,948/110,005), 80.1% (230/287), and 99.9% (109,948/109,999), respectively. For MRI, the ACC, TPR, TNR, PPV, and NPV were 99.8% (4,125/4,132), 89.8% (44/49), 99.9% (4,081/4,083), 95.7% (44/46), and 99.9% (4,081/4,086), respectively. When we compared the predictive values between prenatal US and MRI, there were significant differences in the PPV of OFCs (P < 0.05), NPV of OFCs (P < 0.05), TPR of CLO (P < 0.001), PPV of CLP (P < 0.05), and TPR of CPO (P < 0.05). Conclusion: Our results suggest that prenatal US could be effective for diagnosing and ruling out fetal OFCs. Diagnostic confidence is significantly improved when fetal MRI is used to assess fetal OFCs as an adjunct to US examination. [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 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]

Objective: The objective of this study was to assess the potential of the use of asynchronous tele-expertise (ASTE) to provide prenatal diagnosis from a medical and economic point of view. Population: Patients screened by a midwife at a primary center. Methods: A technical and clinical evaluation was conducted retrospectively, and a cost minimization study compared asynchronous tele-expertise to face-to-face consultations that would have been performed without ASTE. Main outcome measures: In our study we assessed the feasibility of ASTE, what were the origins of the requests for expertise, whether patients need to be moved and the reasons for doing so, and the costs of tele-expertise and conventional consultation. Results: In this retrospective analysis 322 advices from 260 patients were interpreted remotely via a platform. The results revealed a 90.68% feasibility of transmitting in a satisfactory and interpretable way ultrasound images and videos via the tele-expertise platform (292/322 files). In our series, asynchronous analysis allowed the required physician to make an accurate diagnosis and identify 74 (28.5%, 95% CI [23% –33.9%]) pregnancies associated with malformations and rule out abnormalities in 186 (71.5%, 95% CI [66.1% –77%]) of the cases. The ASTE was not associated with face-to-face consultations for 72.7% (189/260) of the patients, who without moving, were able to have access to a precise diagnosis by ruling out the presence of anomalies in 163/189 of these patients and confirming them in 26/189 patients. The practice of ASTE would result from a societal point of view, an average saving of 61.8% (€ 120.57) per patient compared to a face-to-face consultation. Conclusion: The use of asynchronous tele-expertise (ASTE) using fetal ultrasound, is feasible and may contribute to increased diagnostic accuracy while generating a significant reduction in costs for society. [ABSTRACT FROM AUTHOR]

Objective: To present the experience on prenatal diagnosis of Miller-Dieker syndrome (MDS)/PAFAH1B1-related lissencephaly to further determine fetal phenotypes of this syndrome.Study Design: This was a retrospective study of ten pregnancies with fetal MDS/PAFAH1B1-related lissencephaly identified by chromosomal microarray (CMA)/exome sequencing (ES). Clinical and laboratory data were collected and reviewed for these cases, including maternal demographics, prenatal sonographic findings, CMA or ES results and pregnancy outcomes.Results: Two cases were diagnosed in the first trimester because of an increased nuchal translucency. The remaining eight cases were identified at late gestation, including four in the second trimester because of fetal cardiac anomalies or ventriculomegaly, and four in the third trimester because of ventriculomegaly. CMA revealed 17p13.3 deletions in nine cases, and ES detected a de novo PAFAH1B1 missense mutation in one case.Conclusion: The prenatal presentation of MDS/PAFAH1B1-related lissencephaly depended on the gestational age when the diagnosis was made. Mild ventriculomegaly was the most common prenatal sonographic sign identified in cases of MDS/PAFAH1B1-related lissencephaly. It is important that fetal MRI and invasive testing with CMA should be considered in fetuses with apparently 'isolated' mild ventriculomegaly. [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]

Background: With the increasing rate of high-risk pregnancies, there is an increased need for early evaluation of at-risk fetuses. Fetal ultrasound imaging has become a pivotal part of this evaluation. Methods: To evaluate the role played by a fetal ultrasound clinic in promoting comprehensive perinatal care of patients with high-risk pregnancies, we retrospectively analyzed the indications and findings of fetal scans and the outcomes of the examined fetuses collected over the past 7 years (2014-2020) by our institute, which is reorganized as a perinatal medical center. Results: During the study period, we conducted 345 fetal scans in high-risk pregnancy cases. Of these, 158 cases (46%) were referrals from other institutes. Eighty-nine neonates were admitted to our neonatal intensive care unit (NICU) after being evaluated, of which 10 neonates underwent surgery during their NICU stays. Thirty-nine pregnant women were referred to other tertiary care hospitals mainly due to fetal diagnoses with complex cardiac anomalies. Fourteen cases resulted in intrauterine fetal death or artificial abortion. Conclusions: Fetal ultrasound clinics have established their role in facilitating sophisticated regional perinatal care via multidisciplinary and inter-facility cooperation for high-risk pregnancy cases. In addition, providing psychological support and counseling for pregnant women whose fetuses are diagnosed with severe congenital anomalies should not be neglected. [ABSTRACT FROM AUTHOR]

Filar cysts (FCs) can be detected using ultrasound before or after delivery. They usually present as anechoic structures with a clear boundary just caudal to the lower end of the conus medullaris. They are generally considered a physiological variation and do not affect health. Some studies have pointed out that FCs in children can disappear spontaneously, as identified by ultrasound or magnetic resonance imaging. Three cases of FCs diagnosed by prenatal transabdominal ultrasound were reported in this study, and it was observed that FCs could disappear spontaneously in utero. The shortest time of disappearance was 4 weeks. [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]

Background: The prenatal diagnosis of foetal imperforate anus is difficult. Most previous studies have been case reports. To provide useful information for diagnosing foetal imperforate anus, a retrospective review of diagnostic approaches was conducted. Ultrasonography was performed in 19 cases of foetal imperforate anus from 2016 to 2019 at our prenatal diagnostic centre. The prenatal sonographic features and outcomes of each case were collected and evaluated.Result: The anal sphincter of a normal foetus shows the 'target sign' on cross-sectional observation. Of the 19 cases of imperforate anus, 16 cases were diagnosed by the ultrasound image feature called the 'line sign'. 1 case with tail degeneration was low type imperforate anus with the irregular 'target sign' not a real 'target sign'. There was two false-negative case, in which the 'target sign' was found, but irregular.Conclusion: In this study, we find that the anus of a foetus with imperforate anus presents a 'line sign' on sonographic observation. The absence of the 'target sign' and then the presence of the 'line sign' can assist in the diagnosis of imperforate anus. The 'line sign' can be used as a secondary assessment to determine the type of the malformation following non visualization of the 'target sign'. The higher the position of the imperforate anus is, the more obvious the 'line sign'. It is worth noting that the finding of the short 'line sign' and irregularr 'target sign' can not ignore the low type imperforate anus. [ABSTRACT FROM AUTHOR]

Purpose: This study explored the performance of prenatal ultrasonography in the differential diagnosis of cystic biliary atresia (CBA) and choledochal cyst (CC). Methods: Fetuses diagnosed with hepatic hilar cyst in the second trimester were included in this study. A series of prenatal ultrasound examinations were performed in the second and third trimesters. The diameter of the gallbladder (GB) and hepatic cyst were measured, as well as the wall thickness of the GB. The GB-cyst connection, visibility of the right hepatic artery (RHA), and other concomitant abnormalities were carefully evaluated. A neonatal transabdominal ultrasound examination was performed within 1 week after birth, and clinical data were followed up to 6 months after birth. Results: Between January 1, 2016 and January 31, 2020, 53 fetuses diagnosed with hepatic hilar cyst were recruited. Eight were excluded because they were lost to follow-up. Among the 45 cases included in this study, 10 were diagnosed with CBA and 35 with CC after birth. Statistically significant differences were found in GB width, wall thickness, change in GB width, change in cyst length, GB-cyst connection, and RHA visibility between the CBA and CC groups. GB width showed the best diagnostic performance with an area under the curve (AUC) of 0.899. The combination of GB width, GB wall thickness, and GB-cyst connection yielded a comparable AUC of 0.971. Conclusion: The GB should be carefully evaluated in fetuses with hepatic hilar cyst. Prenatal ultrasound findings could provide suggestive parameters for the differential diagnosis of CBA from CC. [ABSTRACT FROM AUTHOR]

Objective: The aim of this study was to report the rate of additional anomalies detected exclusively at prenatal magnetic resonance imaging (MRI) in fetuses with isolated severe ventriculomegaly undergoing neurosonography.Method: Multicenter, retrospective, cohort study involving 20 referral fetal medicine centers in Italy, United Kingdom, Spain and Denmark. Inclusion criteria were fetuses affected by isolated severe ventriculomegaly (≥15 mm), defined as ventriculomegaly with normal karyotype and no other additional central nervous system (CNS) and extra-CNS anomalies on ultrasound. In all cases, a multiplanar assessment of fetal brain as suggested by ISUOG guidelines on fetal neurosonography had been performed. The primary outcome was the rate of additional CNS anomalies detected exclusively at fetal MRI within two weeks from neurosonography. Subgroup analyses according to gestational age at MRI (Results: 187 fetuses with a prenatal diagnosis of isolated severe ventriculomegaly on neurosonography were included in the analysis. Additional structural anomalies were detected exclusively at prenatal MRI in 18.1% of cases. When considering the type of anomaly, malformations of cortical development were detected on MRI in 32.4% cases, while midline or acquired (hypoxemic/hemorrhagic) lesions were detected in 26.5% and 14.7% of cases, respectively. There was no difference in the rate of additional anomalies when stratifying the analysis according to either gestational age at MRI or laterality of the lesion. At multivariate logistic regression analysis, the presence of additional anomalies only found at MRI was significantly higher in bilateral compared versus unilateral ventriculomegaly (OR: 4.37, 95% CI 1.21-15.76; p = 0.04), while neither maternal body mass index, age, severity of ventricular dilatation, interval between ultrasound and MRI, nor gestational age at MRI were associated with the likelihood of detecting associated anomalies at MRI.Conclusion: The rate of associated anomalies detected exclusively at prenatal MRI in fetuses with isolated severe ventriculomegaly is lower than previously reported, but higher compared to isolated mild and moderate ventriculomegaly. Fetal MRI should be considered as a part of the prenatal assessment of fetuses presenting with isolated severe ventriculomegaly at neurosonography. [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]

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]

Objective: To define the incidence of variants of aortic arch sidedness in fetuses undergoing routine first trimester ultrasound examination.Methods: The data for this study were derived from prospective routine ultrasound examination at 11+0 to 13+6 weeks' gestation in singleton pregnancies examined in a local population between January 2014 and March 2018. We examined the incidence of isolated right aortic arch (RAA) and double aortic arch (DAA) in the local, screened population and compared the groups with and without these abnormalities.Results: The study population of 33,202 pregnancies included 18 (5.4 per 10,000) cases with isolated RAA and 5 (1.5 per 10,000) with DAA. In the group with isolated RAA or DAA, compared to those without, the median maternal age was higher and the incidence of conceptions from in vitro fertilization (IVF) was eight-fold higher. The prevalence of 22q11microdeletion was 5% in patients with RAA from this local population.Conclusions: The incidence of isolated RAA and DAA in a local population undergoing routine first-trimester ultrasound examination is 2-3-fold higher than that reported in postnatal studies and the risk for these abnormalities is substantially increased in fetuses conceived by IVF. [ABSTRACT FROM AUTHOR]

Background: Skeletal dysplasias (SDs) are a heterogeneous group of genetic disorders that primarily affect bone and cartilage. This study aims to identify the genetic causes for fetal SDs, and evaluates the diagnostic yield of prenatal whole-exome sequencing (WES) for this disorder. Methods: WES was performed on 38 fetuses with sonographically identified SDs and normal results of karyotype and single nucleotide polymorphism (SNP) analysis. Candidate variants were selected by bioinformatics analysis, and verified by Sanger sequencing. Results: WES revealed pathogenic or likely pathogenic variants associated with SDs in 65.79% (25/38) of fetuses, variants of uncertain significance (VUS) in SDs-related genes in 10.53% (4/38) cases, and incidental findings in 31.58% (12/38) fetuses. The SDs-associated variants identified in the present study affected 10 genes, and 35.71% (10/28) of the variants were novel. Conclusion: WES has a high diagnostic rate for prenatal SDs, which improves pregnancy management, prenatal counseling and recurrence risk assessment for future pregnancies. The newly identified variants expanded mutation spectrum of this disorder. [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. To evaluate the three-dimensional ultrasound paper cleft lip and palate deformities in applications in prenatal diagnosis. Methods. 25 cases of cleft lip and palate fetus, 20–32 weeks of gestational age, with the maternal age of 22–44 years, were examined by prenatal ultrasound in our hospital; conventional two-dimensional ultrasound examination was performed after a cleft lip, and the application of three-dimensional ultrasound imaging surface and a transparent imaging showed the alveolar process and the palate of the fetus. Also, the results of two-dimensional ultrasound and postnatal (or after induction) results were compared. Results. Of the 25 cases, there were 6 cases of postpartum induction or simply unilateral cleft lip, 17 cases of unilateral cleft palate, and two cases of bilateral cleft lip palate. There was no significant (P > 0.05) difference of two- and three-dimensional ultrasound detection rate of pure cleft lip; two-dimensional ultrasound cleft palate detection rate was 36.8% (7/19), and three-dimensional ultrasound cleft palate detection rate was 89.5% (17/19). The two methods showed a statistically significant (P < 0.05) difference in the detection rate of cleft palate. Conclusion. Three-dimensional ultrasound can significantly improve the diagnostic accuracy of prenatal cleft palate. [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: This study was to report the experiences on the clinical value of noninvasive prenatal testing (NIPT) for the screening of fetal chromosomal deletions/duplications. Methods: We performed a retrospective analysis of a cohort of 20,439 pregnancies undergoing NIPT from March 2017 to September 2020 at a single center. Patients with positive NIPT results for fetal chromosomal deletions or duplications had options of invasive diagnostic testing or no further testing. The data were complied from all cases with positive NIPT results for chromosomal deletions/duplications. The positive predictive value (PPV) was calculated from tabulated data. Results: In this cohort, positive NIPT results for fetal chromosomal deletions/duplications were found in 60 pregnant women. Of the positive samples, further invasive testing was performed in 39 cases, in which 9 cases were found to be true positive. The overall PPV for chromosomal deletions/duplications was 23.1%. In addition, fetal structural anomaly was found by ultrasound examination in three cases, in which the chromosomal deletions/duplications of three cases were not verified. Moreover, an unexpected pathogenic 8p23.3 deletion was identified by invasive testing in 1 fetus with a false positive NIPT screen for 3q27.3q29 duplication. Conclusions: In summary, positive NIPT results of chromosomal deletions/duplications were not uncommon in clinical practice, whereas the PPV for the testing was low. Hence, potential risks and high percentage of false positives for these abnormal NIPT results might be informed to pregnant women before the choice made of invasive testing. [ABSTRACT FROM AUTHOR]

Introduction: The aim of this retrospective cohort study was to determine the potential diagnostic yield of prenatal whole exome sequencing in fetuses with structural anomalies on expert ultrasound scans and normal chromosomal microarray results. Material and methods: In the period 2013‐2016, 391 pregnant women with fetal ultrasound anomalies who received normal chromosomal microarray results, were referred for additional genetic counseling and opted for additional molecular testing pre‐ and/or postnatally. Most of the couples received only a targeted molecular test and in 159 cases (40.7%) whole exome sequencing (broad gene panels or open exome) was performed. The results of these molecular tests were evaluated retrospectively, regardless of the time of the genetic diagnosis (prenatal or postnatal). Results: In 76 of 391 fetuses (19.4%, 95% CI 15.8%‐23.6%) molecular testing provided a genetic diagnosis with identification of (likely) pathogenic variants. In the majority of cases (91.1%, 73/76) the (likely) pathogenic variant would be detected by prenatal whole exome sequencing analysis. Conclusions: Our retrospective cohort study shows that prenatal whole exome sequencing, if offered by a clinical geneticist, in addition to chromosomal microarray, would notably increase the diagnostic yield in fetuses with ultrasound anomalies and would allow early diagnosis of a genetic disorder irrespective of the (incomplete) fetal phenotype. [ABSTRACT FROM AUTHOR]

Objective: Prenatal diagnoses of microdeletion syndromes without ultrasound findings in the first and second trimester are always difficult. The objective of this study is to report the prenatal ultrasound findings in four foetuses diagnosed with 17q21.31 microdeletions (Koolen‐de Vries syndrome) using chromosomal microarrays (CMA). Patients and Methods: We present four foetuses with 17q21.31 microdeletion. All showed CNS anomalies in the third trimester, three had ventriculomegaly, and one hypogenesis of corpus callosum at 31 weeks of pregnancy. Results: Array‐SNPs and CGH‐array were performed on uncultured amniocytes and peripheral blood revealing a 17q21.31 microdeletion. Conclusions: Prenatal CNS anomalies (mainly ventriculomegaly) at third trimester, in spite of isolate, should be considered a prenatal ultrasound marker of this syndrome. This kind of malformations raise the possibility of an underlying genetic conditions including 17q21.31 microdeletion; thus, CMA should be taken into consideration when offering prenatal genetic counselling. [ABSTRACT FROM AUTHOR]

Aim: The aim of our study was to study the outcome of "nonurinary" surgical malformations predicted by fetal abdominal signs on prenatal ultrasound (US). Methods: This prospective observational study was done over a 3-year period. Results: Out of 66 cases, 15 different malformations were detected. The accuracy of prenatal US was 83.3%. There were four still births, two medical termination of pregnancy, and sixty live births (91%). Postnatal surgery was necessary in 35 neonates (62.5%) with postoperative survival of 71.4%. Sixteen neonates (26.7%), 7 with normal postnatal US and 9 asymptomatic lesions, were managed conservatively. Overall 1-year survival rate of fetuses was 62.1%. The most common malformations confirmed postnatally were duodenal atresia (n = 14, 23.3%), followed by gastroschisis (n = 9; 15%), esophageal atresia (n = 8; 13.3%), meconium peritonitis (n = 4; 6.7%), and ovarian cyst (n = 4; 6.7%). Prematurity (n = 34; 56.7%) and low birth weight (n = 44; 66.7%) had no significant effect on survival due to in utero transfer to tertiary care. Salient factors adversely affecting the survival were: (1) type of anomaly-omphalocele major and fetal ascites (FA) had no survivors, (2) postoperative complications, and (3) associated cardiac anomalies. It was also notable that, among fetal signs of meconium peritonitis, isolated intra-abdominal calcification had a good prognosis with 75% survival, whereas FA had no survivors. Conclusions: Results of this study will be helpful in realistic prognostication and postnatal management of these anomalies in the appropriate hospital setting. [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]

Objective: To compare the accuracy, efficiency, and consistency between experienced and less‐experienced professionals using intelligent navigation echocardiography. Methods: In this prospective study, we enrolled 93 second‐ and third‐trimester fetuses with conotruncal defects (CTD) from July 2017 to February 2018. One or more spatiotemporal image correlation volume data sets were collected per case. The fetuses with CTD were diagnosed by the following two groups of professionals (n = 20 in each) with different experience levels using intelligent navigation echocardiography and two‐dimensional ultrasound: group A with 15 years of experience and group B with 1 year of experience. The diagnostic consistency and accuracy of the technologies between the two groups were analyzed. Results: Satisfactory consistency was noted in the two groups (group A, τ = 0.855, P < 0.05, and group B, τ = 0.821, P < 0.05), and no significant difference in accuracy (χ2 = 3.218, P > 0.05) in using intelligent navigation echocardiography was reported between the two groups. However, there a significant difference in accuracy (χ2 = 0.021, P < 0.05) when using two‐dimensional ultrasound was observed between the two groups. Conclusion: Intelligent navigation echocardiography was found to be efficient and accurate for the diagnosis of CTD and good consistency existed in the experienced and less‐experienced professionals. Intelligent navigation echocardiography was feasible and accurate for the diagnosis of fetal conotruncal defects. [ABSTRACT FROM AUTHOR]

Aims: To compare the screening capability of ultrasonography in detecting trisomy 13 (T13) using a multiparameter sonographic protocol (NT+) with a classical combined screening test (CST) protocol.Methods: The project was a prospective, multicenter study based on a nonselected mixed-risk population of women referred for a first-trimester screening examination. Each subject was offered a choice between either the gold standard, traditional combined screening test (CSG arm) or the ultrasound-based screening protocol (USG arm). General and MA-based screening performances were checked.Results: The study population comprised 20,887 pregnancies: 12,933 in the CSG arm, including 27 cases of T13, and 7954 in the USG arm, including 30 cases of T13. The DR for T13 was higher in the CSG arm than in the USG arm for all tested cutoff points: 1/50 (88.5 versus 63.3%, respectively), 1/100 (88.5 versus 70%, respectively) and 1/300 (92.3 versus 83.3%, respectively). Using the ROC curves for fixed FPRs of 3 and 5%, the T13 detection rate in our study reached 90 and 93%, respectively, in the USG arm and 92 and 96%, respectively, in the CSG arm. MA influenced the T13 screening performance in the USG arm and reduced the DR in patients <31 years. Such influence was not detected in the CSG arm.Conclusions: Classic CST was more effective in detecting T13 than the ultrasound-only approach. However, the recommended cutoff of 1/50 showed unsatisfactory results for both traditional CST and the multiparameter sonographic test we proposed. [ABSTRACT FROM AUTHOR]

The incidence of lipoblastoma is low, with fetal occurrences being even rarer. There are very few prenatal reports about lipoblastoma. We present a case report of fetal perineal lipoblastoma, which was confirmed by pathology after birth. In this case, the combination of three-dimensional(3D) ultrasound greatly improved the diagnostic accuracy by determining the location and shape of the mass. Combining 3D ultrasound imaging with specific ultrasound characteristics related to different masses significantly enhances diagnostic accuracy for lipoblastomas during prenatal examinations. This case report provides valuable insights for prenatal diagnosis and counseling of lipoblastoma. [ABSTRACT FROM AUTHOR]

Objective: To examine the risk of clinically significant chromosomal microarray analysis findings in fetuses with nuchal translucency from 3.0-3.4 mm. In addition, we aimed to define the yield of noninvasive prenatal testing (NIPT) in such pregnancies.Methods: This retrospective cohort study included results of all chromosomal microarray analysis tests performed owing to a nuchal translucency measurement from 3.0-3.4 mm, without ultrasonographic anomalies, retrieved from the Israeli Ministry of Health computerized database. Rates of clinically significant (pathogenic and likely pathogenic) microarray findings were compared with a previously published local control population, encompassing 2,752 fetuses with normal ultrasound findings and nuchal translucency less than 3.0 mm.Results: Overall, 619 chromosomal microarray analyses were performed owing to isolated nuchal translucency from 3.0-3.4 mm. Of these, 29 (4.7%) cases had clinically significant copy number variants, a significantly higher risk compared with control-group pregnancies (relative risk 3.3, 95% CI 2.6-7.2). Divided by tenths of millimeters, the risk for abnormal chromosomal microarray analysis findings remained significantly increased, except for the subgroup of 198 fetuses with nuchal translucency measurements of 3.0 mm. Noninvasive prenatal testing for the five common chromosome aneuploidies would have missed 41.4% of the abnormal copy number variants-1.9% of overall cases, or 1 in 52 fetuses with nuchal translucency from 3-3.4 mm. Genome-wide NIPT, as well as traditional karyotyping, could have missed an abnormal finding in 9 of 619 (1.5%), or 1 in 69 fetuses.Conclusion: Our outcomes show that the rate of abnormal chromosomal microarray analysis findings in fetuses with nuchal translucency from 3.1-3.4 mm is significantly higher compared with fetuses with normal ultrasound findings. [ABSTRACT FROM AUTHOR]