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Objectives: To evaluate the potential connections between marginal cord insertion during the first trimester and furcate cord insertion later in pregnancy. Methods: This is a prospective study of screening data on the cord insertion site in 3178 singleton pregnancies. The cord insertion site was examined in two stages. The first stage was screening for the cord insertion site between 10–13 weeks of gestation, the purpose is to determine the category of umbilical cord insertion. The second stage, performed at 22–28 weeks of gestation, was to follow up on the relationship between the cord insertion site and the placenta and to identify any changes in the category of umbilical cord insertion. This was performed to diagnose or exclude furcate cord insertion by identifying whether the umbilical cord trunk separated or branched before it reached the placenta. Factors influencing progression to furcate cord insertion and perinatal complications were assessed. Results: Fourteen cases (0.44%) with progression to furcate cord insertion, all of which showed marginal cord insertion on ultrasound in the first trimester (p < 0.001). without progression to furcate cord insertion, there were no changes in the category of umbilical cord insertion in 3050 cases (96.40%) compared to the early pregnancy. 114 cases (3.60%) with changes in the category of umbilical cord insertion that was not consistent with furcate cord insertion. A total of 14 cases progressed to furcate cord insertion, all showed the cord insertion site were in close proximity, and 11 (78.57%) cases showed a low insertion site (p < 0.001). Regarding the choice of mode of delivery, elective caesarean delivery was done in 8/14 (57.14%). The incidences of spontaneous vaginal delivery were 5/14 (35.71%) (p < 0.001). One (7.14%) case of progression to furcate cord insertion due to haematoma at the root of the umbilical cord ended with an emergency caesarean section. In terms of perinatal complications, marginal cord insertion that progressed to furcate cord insertion had higher incidences of SGA infants, abnormal placental morphology, retention of the placenta, and cord-related adverse pregnancy outcomes than not progressed to furcate cord insertion (p < 0.05). Conclusions: Marginal cord insertion in the first trimester has the potential to progress to furcate cord insertion. We suggest that ultrasound-diagnosed marginal cord insertion in the first trimester should be watched carefully in the second trimester, which is clinically useful to accurately determine the category of cord insertion and to improve the rate of prenatal diagnosis of furcate cord insertion. [ABSTRACT FROM AUTHOR]

This is a single tertiary population-based study conducted at a center in southwest Romania. We retrospectively compared data obtained in two periods: January 2008–December 2013 and January 2018–December 2023. The global incidence of the transposition of great arteries in terminated cases, in addition to those resulting in live-born pregnancies, remained almost constant. The live-birth incidence decreased. The median gestational age at diagnosis decreased from 29.3 gestational weeks (mean 25.4) to 13.4 weeks (mean 17.2). The second trimester and the overall detection rate in the prenatal period did not significantly change, but the increase was statistically significant in the first trimester. The proportion of terminated pregnancies in fetuses diagnosed with the transposition of great arteries significantly increased (14.28% to 75%, p = 0.019). [ABSTRACT FROM AUTHOR]

To report the outcome of fetuses with a prenatal diagnosis of congenital lung malformation (CLM) diagnosed on ultrasound by performing a comprehensive assessment of these outcomes through a systematic review and meta-analysis. CLMs are a heterogeneous group of anomalies that involve the lung parenchyma and its bronchovascular structures. Their presentation and evolution are variable, from entirely asymptomatic lesions with sonographic regression in utero to hydropic fetuses requiring fetal therapy, intrauterine death or neonatal morbidity. A systematic review was conducted in Medline, Embase and Cochrane databases including studies on fetuses with CLM diagnosed prenatally in order to report the in-utero natural history of these lesions. Thirty-nine studies (2,638 fetuses) were included in the final review. Regression/reduction in size of the lung lesion during pregnancy was reported in 31 % of cases, while its increase in 8.5 % of cases. Intra-uterine death complicated 1.5 % of pregnancies with fetal CLM, while neonatal and perinatal death were 2.2 and 3 %, respectively. Neonatal morbidity occurred in 20.6 % of newborns with CLM; 46 % had surgery, mainly elective. In fetuses with CLM and hydrops, fetal/perinatal loss occurred in 42 %. Assessment of the role of fetal therapy in improving the outcomes of pregnancies complicated by CLM was hampered by the small number of included cases and heterogeneity of type of interventions. Fetuses with CLM prenatally diagnosed have a generally favorable outcome. Conversely, there is a low quality of evidence on the actual role of fetal therapy in improving the outcome of fetuses presenting with these anomalies. [ABSTRACT FROM AUTHOR]

Background: Deep learning (DL) is a new technology that can assist prenatal ultrasound (US) in the detection of congenital heart disease (CHD) at the prenatal stage. Hence, an economic-epidemiologic evaluation (aka Cost-Utility Analysis) is required to assist policymakers in deciding whether to adopt the new technology. Methods: The incremental cost-utility ratios (CUR), of adding DL assisted ultrasound (DL-US) to the current provision of US plus pulse oximetry (POX), was calculated by building a spreadsheet model that integrated demographic, economic epidemiological, health service utilization, screening performance, survival and lifetime quality of life data based on the standard formula: CUR = Increase in Intervention Costs - Decrease in Treatment costs Averted QALY losses of adding DL to US & POX US screening data were based on real-world operational routine reports (as opposed to research studies). The DL screening cost of 145 USD was based on Israeli US costs plus 20.54 USD for reading and recording screens. Results: The addition of DL assisted US, which is associated with increased sensitivity (95% vs 58.1%), resulted in far fewer undiagnosed infants (16 vs 102 [or 2.9% vs 15.4%] of the 560 and 659 births, respectively). Adoption of DL-US will add 1,204 QALYs. with increased screening costs 22.5 million USD largely offset by decreased treatment costs (20.4 million USD). Therefore, the new DL-US technology is considered "very cost-effective", costing only 1,720 USD per QALY. For most performance combinations (sensitivity > 80%, specificity > 90%), the adoption of DL-US is either cost effective or very cost effective. For specificities greater than 98% (with sensitivities above 94%), DL-US (& POX) is said to "dominate" US (& POX) by providing more QALYs at a lower cost. Conclusion: Our exploratory CUA calculations indicate the feasibility of DL-US as being at least cost-effective. [ABSTRACT FROM AUTHOR]

Purpose: Facial clefts belong to the most common congenital malformations and their prenatal diagnosis is a constant challenge. The aim of this study was to determine the accuracy of prenatal ultrasound in correctly classifying facial clefts. Furthermore, we aimed to specify the distribution of the type of clefts and underlying genetic conditions. Methods: All fetuses seen with suspected facial cleft in the Department of Obstetrics, Charité – Universitätsmedizin Berlin during a period of 23 years (1999–2022) were included in this retrospective study. Clefts were classified according to the classification of Nyberg. All additional prenatal findings were assessed and correlated with the outcome. The accuracy of prenatal diagnosis was assessed. Results: 292 patients were included in the study. The most common type of clefts were unilateral cleft lip and palate (CL-P) (53.6%) and bilateral CL-P (30.6%), followed by CL (8.1%), CP (5.1%) and median CL-P (2.6%). The overall pre- and postnatal concordance rate corresponding to a correct prenatal diagnosis was high, 88.9%, ranging from 73.7% (CL) to 93.7% (unilateral CL-P). Most of the median clefts (95.2%) and CP (93.3%) were associated with other sonographic abnormalities, as well as 52.2% of bilateral CL-P. Chromosomal abnormalities, mostly trisomy 13 and trisomy 18, were observed in in the median CL-P (47.6%), bilateral CL-P (31.1%) and CP (26.7%) groups, in contrast to the CL (9.1%) and unilateral CL-P (12.9%) groups. It was exceptional to have a chromosomal abnormality without additional malformations (4.8%). The mortality rate including one late miscarriage, 5 IUFD's, 74 TOPs and 6 palliative cares at birth was 29.8%, particularly high for median clefts (90.5%). Conclusion: Prenatal ultrasound exhibited a high accuracy to assess the type of facial clefts with an average rate of 88.9% (73.7%–93.7%) and a concordance rate of up to 93.7%, depending on the type of cleft. The search for additional malformations as well as clarifying underlying genetic conditions is essential. This allows for a targeted counseling of the parents and to best prepare for postnatal care, including surgery by the maxillofacial team. [ABSTRACT FROM AUTHOR]

Cleft lip and palate are the most widespread orofacial malformations, being considered by the World Health Organization to be a relevant public health problem, afflicting 1 in 700-1000 newborns worldwide. The anomaly is characterized by the lack of continuity of the tissues that form the upper lip, the alveolar process, and the soft and hard palate. The severity varies from a small cleft lip to a complete cleft that extends to the palate, sometimes also to the nose and hearing apparatus. Because of their disturbing appearance in many cases, these malformations have attracted much attention in terms of treatment and patient management. The major impact of cleft lip and palate on physiognomy and functionality places this type of malformations in the category of major public health problems worldwide. Advances in fetal ultrasound and MRI have significantly increased the accuracy of diagnosing fetal abnormalities. Once a malformation is suspected, genetic tests can be performed to verify the results of the ultrasound and/or MRI examination. Ultrasound is widely used to diagnose clefts prenatally and, not surprisingly, 3D ultrasound is superior to 2D ultrasound in accurately detecting cleft lip. While ultrasound is excellent for assessing prenatal craniofacial morphology, visualizations can be limited by overlapping hard structures. As a result, MRI is increasingly being used to overcome this problem and to complement ultrasound. Using fetal ultrasound and magnetic resonance imaging (MRI), there is the opportunity for diagnosis in utero, which will allow for the customization of care throughout pregnancy and then in the postnatal period throughout the child’s life. At the same time, patients with cleft lip and palate may have associated intracranial and extracranial anomalies and dentofacial deformities that represent the sequelae of the cleft, aspects for which the imaging examination provides extremely valuable information and has an impact on the optimal therapeutic management of children with such pathology. [ABSTRACT FROM AUTHOR]

Introduction: A critical component of an evidence-based reassessment of in-utero intervention for fetal aqueductal stenosis (fetal AS) is determining if the prenatal diagnosis can be accurately made at a gestational age amenable to in-utero intervention. Methods: A multicenter, prospective, observational study was conducted through the North American Fetal Therapy Network (NAFTNet). Pregnancies complicated by severe central nervous system (CNS) ventriculomegaly (lateral ventricle diameter >15 mm) not secondary to a primary diagnosis (myelomeningocele, encephalocele, etc.) were recruited at diagnosis. Imaging and laboratory findings were recorded in an online REDCap database. After evaluation, investigators were asked to render their degree of confidence in the diagnosis of fetal AS. The prenatal diagnosis was compared to the postnatal diagnosis obtained through neonatal neuroimaging. Performance characteristics of ultrasound and magnetic resonance imaging (MRI) were calculated, as was the mean gestational age at diagnosis. Results: Between April 2015 and October 2022, eleven NAFTNet centers contributed 64 subjects with severe fetal CNS ventriculomegaly. Of these, 56 had both prenatal and postnatal diagnoses recorded. Ultrasound revealed 32 fetal AS true positives, 4 false positives, 7 false negatives, and 13 true negatives, rendering a sensitivity of 0.82, a specificity of 0.76, a positive predictive value of 0.89, and a negative predictive value of 0.65. The mean gestational age at diagnosis by ultrasound was 25.5 weeks (std +/− 4.7 weeks). The proportion of agreement (true positive + true negative/n) was highest at 24 weeks gestation. For fetal MRI (n = 35), the sensitivity for fetal AS was 0.95, specificity was 0.69, positive predictive value was 0.84, and negative predictive value was 0.90. MRI was performed at 25 weeks on average. Conclusion: The prenatal diagnosis of fetal AS can be made with accuracy at a gestational age potentially amenable to in-utero intervention. Only 7% of subjects were incorrectly diagnosed prenatally with fetal AS by ultrasound and 11% by MRI. Diagnostic accuracy of fetal AS will likely improve with increased experience. [ABSTRACT FROM AUTHOR]

Background: This study aims to evaluate the outcomes of fetal sacrococcygeal teratoma (SCT) submitted to prenatal interventions. Methods: We performed a systematic literature review of fetal SCT patients and compared the outcomes between open fetal surgery and percutaneous intervention. In addition, we also compared the results of SCT fetuses who did not undergo any surgical intervention (NI). Results: We identified 16 cases of open fetal surgery (OS), 48 cases of percutaneous fetal intervention (PI), and 93 NI patients. The survival rate was 56.2% in OS, 45.8% in PI (p = 0.568), and 71.0% in NI patients. The gestational age at delivery was earlier in cases where there was no survival compared to cases where the fetuses did survive across all evaluated cohorts (OS: p = 0.033, PI: p < 0.001, NI: p < 0.001). The gestational weeks at delivery in OS and PI fetuses were more similar; however, OS tended to be performed later on in pregnancy, and the affected fetuses had more severe presented findings. In our evaluation, we determined that the presence of fetal hydrops and cardiac failure had no significant impact on survival in SCT cases. In NI patients, polyhydramnios was much higher in fetuses who did not survive compared to their surviving cohorts (p < 0.001). Conclusions: In conclusion, gestational age at delivery can affect the short-term prognosis of fetuses affected with sacrococcygeal teratomas. Regardless of the mode of delivery or the necessity for intervention during the fetal period, monitoring for complications, including polyhydramnios, can prevent premature delivery. [ABSTRACT FROM AUTHOR]

Introduction: This study aimed to assess the visibility of the indusium griseum (IG) in magnetic resonance (MR) scans of the human fetal brain and to evaluate its reliability as an imaging biomarker of the normality of brain midline development. Material and methods: The retrospective observational study encompassed T2‐w 3T MR images from 90 post‐mortem fetal brains and immunohistochemical sections from 41 fetal brains (16–40 gestational weeks) without cerebral pathology. Three raters independently inspected and evaluated the visibility of IG in post‐mortem and in vivo MR scans. Weighted kappa statistics and regression analysis were used to determine inter‐ and intra‐rater agreement and the type and strength of the association of IG visibility with gestational age. Results: The visibility of the IG was the highest between the 25 and 30 gestational week period, with a very good inter‐rater variability (kappa 0.623–0.709) and excellent intra‐rater variability (kappa 0.81–0.93). The immunochemical analysis of the histoarchitecture of IG discloses the expression of highly hydrated extracellular molecules in IG as the substrate of higher signal intensity and best visibility of IG during the mid‐fetal period. Conclusions: The knowledge of developmental brain histology and fetal age allows us to predict the IG‐visibility in magnetic resonance imaging (MRI) and use it as a biomarker to evaluate the morphogenesis of the brain midline. As a biomarker, IG is significant for post‐mortem pathological examination by MRI. Therefore, in the clinical in vivo imaging examination, IG should be anticipated when an assessment of the brain midline structures is needed in mid‐gestation, including corpus callosum thickness measurements. [ABSTRACT FROM AUTHOR]

This study had two main objectives. Firstly, we conducted a thorough literature review on the prenatal diagnosis of abdominal congenital arteriovenous fistulas (CAVFs) involving the abdominal aorta and hepatic arteries. Secondly, we aimed to provide detailed descriptions of eight additional cases diagnosed at our medical center and assess the outcome of this anomaly for informed counseling. We conducted a systematic search of online databases using specific keywords like "outcome", "ultrasound", "intrahepatic fistulae", and "fetal venous anomalies", focusing on studies published between 1998 and 2023. We selected 10 relevant articles and analyzed 13 cases. Additionally, we conducted a five-year prospective study in two referral centers, identifying eight CAVF cases with an incidence rate of 0.16%. Among the 21 cases evaluated, 11 resulted in live births, all of which received treatment. However, four cases (36.3%) had poor postnatal outcomes and neonatal demise due to heart failure. Prenatal signs of poor fetal hemodynamics, including cardiomegaly or hydrops, were observed in 52.3% of cases, regardless of outcome. Our findings highlight the rarity of this vascular malformation and emphasize the importance of effective treatment to avoid unfavorable outcomes. The long-term effectiveness of prenatal treatment or postnatal embolization remains uncertain, with liver transplantation being considered the most reliable treatment option. [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]

Congenital anomalies of the kidney and urinary tract are collectively one of the most commonly diagnosed antenatal conditions. Clinicians have several tools available to diagnose anomalies, including imaging, biomarkers, family history and genetic studies. In certain cases, antenatal interventions such as vesico-amniotic shunting may be considered to improve postnatal outcomes. Congenital kidney anomalies detected antenatally can vary in clinical significance from almost no impact postnatally to significant morbidity and perinatal mortality. Prognosis broadly depends on kidney size, structure and amount of amniotic fluid, alongside genetics and family history, and progression on subsequent scans. It is important to counsel parents appropriately using a parent-focused and personalised approach. The use of a multidisciplinary team should always be considered. [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 Design Setting Population Methods Main outcome measures Results Conclusions To estimate the prevalence and trend of congenital eye anomalies (CEAs) and the rate of prenatal diagnosis over a 10‐year period.Retrospective population‐based registry study.All maternity units in Paris, France, from 2010 to 2020.A cohort of 115 cases of CEA detected among all live births or stillbirths, after 22 weeks of gestation, and terminations of pregnancy.The total prevalence of CEAs and prevalence of each specific CEA were calculated using 95% Poisson exact confidence intervals.The total prevalence of CEAs and the proportion of prenatal diagnosis of CEAs, and their evolution.The prevalence of CEAs was 4.1 (95% CI 3.4–5.0) cases, ranging between 3.1 and 5.7 cases, per 10 000 births. CEAs were prenatally diagnosed in 23.5% of cases. CEAs were bilateral in 51 cases (44.3%), unilateral in 43 cases (37.4%) and missing or unknown in 21 cases (18.3%). Of those with CEAs, 20.9% had genetic anomalies and 53.0% had at least one other extraocular anomaly. When detected prenatally, CEAs were bilateral in 15 cases (55.6%), unilateral in eight cases (29.6%) and missing in the four remaining cases. The prenatal diagnosis rate of CEAs associated with genetic anomalies, CEA cases with at least one other malformation and isolated CEA cases were 29.2%, 26.2% and 13.3%, respectively.In total, 115 cases of CEAs were observed during the study period, representing a total prevalence of 4.1 cases per 10 000 births. The overall prenatal detection rate of CEAs in our population was 23.5%, which dropped to 13.3% for isolated cases of CEAs. [ABSTRACT FROM AUTHOR]

Background: Single umbilical artery (SUA) is strongly associated with foetal structural abnormalities; however, the exact pattern of this association has not been described. We aimed to investigate the occurrence of malformations in singleton pregnancies with SUA in China and to study the association between the absent side of the umbilical artery and foetal malformations. Methods: This was a retrospective study of singleton pregnancies for which routine first-trimester anatomical screening was performed at 11+ 0-13+ 6 gestational weeks and, if the pregnancy continued, a second-trimester scan was performed at 20+ 0-24+ 0 weeks. Data were extracted from records at the referral centre, the Obstetrics and Gynecology Hospital of Fudan University, between January 2011 and April 2019 (n = 47,894). Using logistic regression, the odds ratios (OR) with 95% confidence intervals (CIs) were calculated for malformations associated with SUA. Results: The incidence of SUA in our study was 2.0% (970/47,894). Of all foetuses with SUA, 387 (39.9%) had structural malformations. The malformation type varied, with cardiovascular complications being the most common. A robust association was observed between SUA and oesophageal stenosis or atresia (OR: 25.33), followed by cardiovascular (OR: 9.98–24.02), scoliosis (OR: 18.62), genitourinary (OR: 2.45–15.66), and brain malformations (OR: 4.73–9.12). The absence of the left umbilical artery (n = 445, 45.9%) was consistent with that of the right umbilical artery (n = 431, 44.4%). Furthermore, a significantly higher rate of an absent right than the left umbilical artery (p<0.01) was observed in SUA with foetal abnormalities than in SUA with no malformations. Conclusions: Overall, we observed a higher risk of various specific malformations in foetuses with SUA, and a strong association between SUA and oesophageal stenosis or atresia. The absence of the right umbilical artery was most common in foetuses with SUA and structural malformations. This study provides a reference for ultrasonographers in conducting foetal structural screening for pregnant women with SUA. [ABSTRACT FROM AUTHOR]

Fetal abdominal wall defects (AWDs) refer to a variety of congenital anomalies characterized by the incomplete closure or disruption of the abdominal wall in the early stages of embryonic development. Based on the 2011 European Surveillance of Congenital Anomalies (EUROCAT) report, the general prevalence of fetal abdominal wall defects is documented to be six cases per 10,000 births. AWDs pose significant challenges for prenatal diagnosis and management. Ultrasound has emerged as an indispensable tool in diagnosing and characterizing various abdominal wall defects early in pregnancy, enabling precise prenatal counseling and appropriate antenatal management strategies. This article provides a general review of the specialized literature regarding various types of abdominal wall defects, such as omphalocele, gastroschisis, pentalogy of Cantrell, bladder exstrophy, and limb body wall complex, highlighting the significant sonographic features observed during ultrasound examination. Additionally, differential diagnoses are explored, emphasizing the importance of accurately distinguishing between these conditions to ensure optimal management strategies. This article aims to enhance the understanding and familiarity of ultrasound practitioners and obstetricians with the spectrum of fetal abdominal wall defects and their prenatal sonographic appearance, thus facilitating improved prenatal care and patients’ counseling. [ABSTRACT FROM AUTHOR]

Early detection of micrognathia during prenatal care is crucial to mitigate the associated risks and prevent unforeseen emergencies requiring invasive procedures, like tracheostomy. It enables proper planning for delivery in specialized tertiary care centers staffed with experienced teams in managing such cases. This proactive approach enhances clinician readiness, facilitates decision-making regarding management strategies in advance, and fosters improved family education and support. The primary goals of this paper are to provide a comprehensive review of diverse diagnostic techniques for micrognathia and to suggest a clear and pragmatic prenatal approach to addressing this condition. Furthermore, we present relevant ultrasonographic pictures of fetal micrognathia from our personal database. [ABSTRACT FROM AUTHOR]

Congenital ichthyosis represents a wide spectrum of diseases. This article reviews prenatal testing for ichthyosis. We used pubmed.ncbi.nlm.nih.gov to search for 38 types of congenital ichthyosis combined with 17 words related to prenatal testing. Search resulted in 408 publications covering 13 types of ichthyoses and four types of tests. Biochemical testing is diagnostic in trichothiodystrophy, but nonspecific in X-linked ichthyosis and Refsum syndrome. Except in X-linked ichthyosis, biochemical testing requires invasive procedures to obtain fetal skin biopsy, amniocytes, or chorionic villus samples. It is superior to histological and cytological examination of fetal skin biopsy or amniocytes because keratinization occurs later in pregnancy and microscopy cannot differentiate between ichthyosis types. Imaging is more acceptable due to noninvasiveness and routine use, although ultrasonography is operator-dependent, nonspecific, and captures abnormalities at late stage. Molecular tests are described in at-risk pregnancies but testing of free fetal DNA was not described. [ABSTRACT FROM AUTHOR]

Background: Prenatal detection of critical congenital heart disease (CCHD) optimises perinatal decision-making and neonatal outcomes. The objective of this study was to determine the prenatal screening performance, care pathways and perinatal outcomes for prenatally and postnatally diagnosed cases of CCHD over a four-year period. Study design: This retrospective cohort study in a tertiary centre and its two affiliated secondary sites examined all cases of CCHD, including cases of pregnancy termination and in-utero fetal death, neonatal death and liveborn babies that underwent cardiac catheterization or surgery in the first six weeks of life. Prenatal and postnatal data were ascertained from the first trimester assessment for all patients diagnosed prenatally. Cases requiring intervention that were first identified in the postnatal period were included to determine prenatal detection rates. Follow-up for all cases of CCHD continued to one year of age. Results: In a consecutive cohort of 49,950 pregnancies in a 4-year period 01/2019 to 12/2022, a prenatal diagnosis of CCHD was made in 96 cases, yielding a prevalence of 1.9 per 1000 births. The prenatal detection for right duct-dependant heart pathology and congenital heart block was 100%, 85% for left duct-dependant pathology and 93% for transposition of the great arteries (TGA). In the prenatally diagnosed group, 37% of cases were complicated by extracardiac structural abnormalities, a genetic diagnosis or both. All cases of prenatal detection were identified in the context of routine anatomy screening rather than specialist Fetal Cardiac screening services. Almost half of all pregnancies complicated by CCHD did not undergo neonatal cardiac intervention, by virtue of parental choice determined either prenatally or after birth. An additional eight babies were diagnosed with CCHD in the neonatal period, such that the prenatal detection rate for CCHD was 92% (96/104, 95% CI = 84%-96%). Survival at 1-year for infants deemed suitable for CCHD surgery was 85%. Conclusion: In a large unselected population, optimal rates of prenatal detection of critical congenital heart disease can be achieved by a protocolised approach to mid-trimester fetal anatomy ultrasound, underpinned by a programme of sonographer education and training. The cardiac abnormalities most likely to evade prenatal detection are left-sided obstructive lesions. [ABSTRACT FROM AUTHOR]

Introduction: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome is a rare autosomal dominant disorder characterized by megalencephaly (i.e., overgrowth of the brain), polymicrogyria, focal hypoplasia of the cerebral cortex, and polydactyly. Persistent hyperplastic primary vitreous (PHPV) involves a spectrum of congenital ocular abnormalities that are characterized by the presence of a vascular membrane behind the lens. Case Presentation: Here, we present a case of foetal MPPH with PHPV that was diagnosed using prenatal ultrasound. Ultrasound revealed the presence of megalencephaly, multiple cerebellar gyri, and hydrocephalus. Whole-exome sequencing confirmed the mutation of the AKT3 gene, which led to the consideration of MPPH syndrome. Moreover, an echogenic band with an irregular surface was observed between the lens and the posterior wall of the left eye; therefore, MPPH with PHPV was suspected. Conclusion: MPPH syndrome with PHPV can be diagnosed prenatally. [ABSTRACT FROM AUTHOR]

This study aims to define the associated anomalies with PLSVC, and to compare single PLSVC and bilateral superior vena cava in terms of accompanying anomalies and pregnancy outcomes. This was a retrospective study of the fetuses diagnosed with single and/or bilateral SVC at a tertiary fetal medicine center during 8 years. We detected 16 cases of single PLSVC and 84 cases of bilateral SVC. We found an association between the PLSVC and cardiac and extracardiac anomalies. Comparison between single PLSVC and BSVC cases revealed significant differences in the occurrence of heterotaxy and right isomerism. The study highlights the importance of prenatal diagnosis in PLSVC cases. Isolated PLSVC with situs solitus may be considered a benign finding, but larger studies are needed to understand the clinical implications of PLSVC in relation to chromosomal anomalies. Routine screening protocols should include three-vessel and trachea views to detect PLSVC. [ABSTRACT FROM AUTHOR]

To analyze the risk for genetic aberrations and pregnancy outcomes in pregnancies with isolated polyhydramnios. This was a retrospective study of singleton pregnancies complicated by isolated polyhydramnios that underwent genetic amniocentesis between 2016 and 2021. Clinical and laboratory data were collected and reviewed for these cases, including maternal demographics, prenatal sonographic findings, chromosomal microarray results, and pregnancy outcomes. A total of 94 singleton pregnancies were included. Three (3.2%) cases with chromosomal abnormalities were detected, including 2 case of trisomy 21 and 1 of 22q21.1 microdeletion. One case was diagnosed as Prader-Willi syndrome caused by maternal uniparental disomy of chromosome 15. Perinatal death occurred in 1 case with severe polyhydramnios, and was retrospectively diagnosed as Bartter syndrome. Of the 90 infants survived, two were identified to have single gene disorders after birth by whole exome sequencing. We first attempted to determine the value of exome sequencing in pregnancies with isolated polyhydramnios. Our results warrant more studies to evaluate advanced genetic testing technologies used in such pregnancies. [ABSTRACT FROM AUTHOR]

Background: Bilateral reversed cortico-medullary differentiation is rarely observed on fetal or neonatal renal ultrasound and is therefore a diagnostic challenge. Objective: Our purpose was to widen the differential diagnoses of fetal and neonatal nephropathies introducing reversed cortico-medullary differentiation as a clue either on obstetric US or during follow-up of hyperechoic kidneys in order to improve the management of such rare clinical situations. Materials and methods: We retrospectively reviewed the US images of 11 patients showing bilateral reversed cortico-medullary differentiation on prenatal examination or in which this pattern developed postnatally in the follow-up of fetal hyperechoic kidneys. For each patient, a precise diagnosis was established either on clinical assessment or, when available, on histological or genetic findings. Results: Six fetuses displayed bilateral reversed cortico-medullary differentiation on obstetric examination, and the pattern persisted throughout pregnancy. In the five other fetuses, the kidneys appeared initially homogeneously hyperechoic; this evolved into reversed cortico-medullary differentiation during the third trimester in two cases and shortly after birth in three cases. Two pregnancies were terminated because of estimated poor prognosis. In the nine surviving neonates, four died of renal failure in the post-natal period. The clinical evolution was more favorable in the remaining five newborns. Conclusions: Six different diagnoses were established in patients presenting with a reversed cortico-medullary differentiation renal pattern. This finding was associated with poor outcome in six cases. An acute prenatal diagnosis of reversed cortico-medullary differentiation improves pre- and postnatal work-up and guides counseling and genetic testing. [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]

Objective: Type‐III vasa previa (VP) is a rare form of VP, not necessarily associated with other placental or vascular anomalies, in which aberrant vessels run from the placenta to the amniotic membranes, near the internal cervical os, before returning to the placenta. Early diagnosis of Type‐III VP is important but technically challenging. The objective of this study was to gather the current available evidence on the perinatal diagnosis and outcome of Type‐III VP. Methods: A systematic review of the literature on the perinatal diagnosis of atypical Type‐III VP was carried out in PubMed, MEDLINE and EMBASE accordingto PRISMA guidelines from inception to March 2023. Data extraction and tabulation were performed by two operators and checked by a third senior author. The quality of the included studies was evaluated using the National Institutes of Health tool for the quality assessment of case‐series studies. Our local ultrasound database was searched for previously unreported recent cases. Characteristics of prenatally and postnatally diagnosed Type‐III VP, including clinical features and perinatal outcomes, were summarized using descriptive statistics. Results: Eighteen cases of Type‐III VP were included, of which 16 were diagnosed prenatally (14 cases were retrieved from 10 publications and two were unpublished cases from our center) and two were diagnosed postnatally (retrieved from two publications). All prenatal cases were diagnosed on transvaginal ultrasound at a mean gestational age of 29 weeks (median, 31 weeks; range, 19–38 weeks). Conception was achieved with in‐vitro fertilization in 4/16 (25.0%) cases. There were no prenatal symptoms in 15/18 (83.3%) cases, while in two (11.1%) cases there was vaginal bleeding and in one (5.6%) preterm labor occurred. In 15/18 (83.3%) cases, at least one placental abnormality was observed, including low‐lying insertion (9/17), succenturiate or accessory lobe (1/17), velamentous cord insertion (3/18) and marginal insertion (9/18). All prenatally diagnosed cases were liveborn and were delivered by Cesarean section before rupture of membranes at a median gestational age of 35 weeks (range, 32–38 weeks) without neonatal complications. Emergency Cesarean section was performed in 2/16 (12.5%) cases with a prenatal diagnosis and 1/2 (50.0%) cases with a postnatal diagnosis (P = 0.179). Among those with data available, an Apgar score of ≤ 7 was observed in the prenatally vs postnatally diagnosed group in 5/13 vs 1/1 cases, respectively, at the 1‐min evaluation and 3/13 vs 1/1 cases, respectively, at the 5‐min evaluation. Conclusions: The prenatal diagnosis of Type‐III VP is challenging, with few cases reported in the literature; however, it is crucial for minimizing the risk of adverse outcome by enabling early‐term elective Cesarean delivery prior to rupture of membranes. Given that clinical manifestations and risk factors are non‐specific, and that Type‐III VP cannot be excluded when there is a normal cord insertion or a singular placental mass, systematic screening by transvaginal ultrasound in the general pregnant population is recommended, particularly in those with a low‐lying or morphologically abnormal placenta and those who conceived using assisted reproductive technology. © 2023 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]

To present the prenatal features and postnatal outcomes of pregnancies with fetal nemaline myopathy (NM). This was a retrospective study of nine cases with NM diagnosed by prenatal or postnatal clinical features and confirmed by genetic testing. Clinical and laboratory data were collected and reviewed for these cases, including maternal demographics, prenatal sonographic findings, exome sequencing (ES) results, and pregnancy outcomes. All of the nine cases were detected to have NM-causing variants, involving NEB gene in 2 cases, ACTA1 in 3 cases, KLHL40 in 3 cases, and TPM2 in 1 case. Almost all (8/9) had normal first-trimester ultrasound scans except one who had an increased nuchal translucency. Seven (7/9) cases had second-trimester abnormal ultrasounds with fetal akinesia and/or extremity anomalies. Two (2/9) had only third-trimester abnormal ultrasounds with fetal akinesia and polyhydramnios, with one combined with fetal growth restriction. Four pregnancies with a positive prenatal ES were terminated, while five having not receiving prenatal ES continued to term. Only one infant survived 1 year old, and four passed away within 12 months. Prenatal ultrasound can detect clues that lead to the diagnosis of NM, such as reduced or absent fetal movements, polyhydramnios and extremity anomalies. [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]

Transposition of the great arteries (TGA) is a conotruncal abnormality characterized by discordant ventriculoarterial alignments, with the aorta arising from the right ventricle and the pulmonary artery arising from the left ventricle and resultant parallel circulation of the systemic and pulmonary circuits. TGA can be dextro-TGA or levo-TGA based on the position of the aortic valve, right or left, regarding the pulmonary valve, and simple or complex TGA based on associated cardiac anomalies. With an incidence of 0.2-0.3/1,000 live births, TGA is the secondmost common cyanotic heart disease following the tetralogy of Fallot. Around 98% of TGA cases have a normal four-chamber view (4CV). The International Society of Ultrasound in Obstetrics and Gynecology and the American Institute of Ultrasound in Medicine added evaluation of the outflow tracts, three-vessel view (3VV), and three-vessel trachea view (3VTV) which improved the sensitivity of ultrasound screening for congenital heart disease (CHD). However, the prenatal detection rate of TGA, especially simple TGA, is generally low internationally, ranging from 25 to 50%. Without treatment, 50% of these infants die within the 1st month and 90% within the 1st year of life. The prenatal diagnosis of TGA improves postnatal outcomes through planned delivery at a tertiary care center and timely perinatal management. Immediately after birth, prostaglandin-E1 is given to keep the ductus arteriosus open to allow the mixing of oxygen-rich and oxygen-poor blood. If necessary, an atrial septostomy can be performed for short-term survival. Arterial switch operation (ASO) restores normal pulmonary and systemic circulation, with a 20-year survival rate of 90-97%. [ABSTRACT FROM AUTHOR]

Rapid improvements in the field of prenatal medicine have been achieved due to the technological advancement of ultrasonography that has allowed recognition of various ultrasonographic findings and their combination with biochemical results and demographic characteristics in order to estimate a final individual risk for a chromosomal anomaly of the fetus and analysis of short fragments of fetal DNA released into the mother's bloodstream through a natural process of cell death. Invasive testing still remains the main clinically available diagnostic modality for the definite diagnosis of both chromosomal anomalies and many single-gene disorders. Amniocentesis is performed between 15 and 20 weeks of pregnancy to obtain fetal cells for genetic testing. This method is performed almost in the middle of pregnancy, and waiting for the results of the analysis may indicate termination of pregnancy in the second trimester. Chorionic villus sampling (CVS), usually performed between 11+0 and 13+6 weeks of gestation, is one of the invasive diagnostic methods used to diagnose chromosomal, genetic, and metabolic diseases in the embryonic period. Invasive procedures such as CVS and amniocentesis still remain the only definitive diagnostic tests for aneuploidy in pregnancy. CVS, as an invasive procedure carried out with experienced physicians in specialist centers, is not associated with a significant increase in fetal loss rate, with a risk rate below 0.5%, and the possible background risk for miscarriage is significantly higher in the presence of fetal anomaly and abnormal karyotype. Ultrasound-guided transabdominal (TA) CVS is a useful outdoor procedure and is considered the method of choice for fetal sampling and accurate early prenatal diagnosis. [ABSTRACT FROM AUTHOR]

Objectives: Congenital knee dislocation (CKD) is a rare condition, affecting 1 in 100 000 newborns. Its prenatal diagnosis is challenging and not well described in the literature, especially when it appears isolated and not as part of a complex malformation or syndromic pattern. The purpose of this study was to provide a comprehensive review of the available literature on the prenatal diagnosis and postnatal outcome of CKD and to summarize the current evidence on this topic. Methods: A systematic review of the literature on the prenatal diagnosis of CKD was performed in PubMed, Scopus and EMBASE. A predefined combination of specific keywords was used, focusing on intrauterine manifestations, diagnostic methods, prenatal behavior, postnatal treatment and neonatal outcome as well as long‐term outcome in terms of ambulation, motion and joint stability. The quality of studies was assessed using the National Institutes of Health tool for quality assessment of case series. A summary of results was carried out providing proportions and rates of diagnostic and prognostic features associated with this rare condition. Results: In total, 20 cases were retrieved for analysis, of which 19 were obtained from the identified eligible studies (n = 16) and one was an unpublished case from our center. The median gestational age at prenatal diagnosis, which was made using ultrasound in most cases, was 20 weeks (range, 14–38 weeks). Bilaterality was observed in 11/20 (55%) cases. The condition was isolated in 7/20 (35%) cases and associated with other anomalies in 13/20 (65%) cases. An association was observed with oligohydramnios (4/20 (20%)), and an invasive procedure was performed in 13/20 (65%) cases, including 11 cases with an invasive procedure performed for diagnostic purposes. Genetic testing was normal in all isolated cases for which information was available (4/7), while a genetic syndrome was present in 10/13 (77%) non‐isolated cases (Larsen, Noonan, Grebe, Desbuquois or Escobar syndrome). There were seven terminations of pregnancy, of which six were performed in cases with associated anomalies and one in an isolated case, 11 cases of postnatal survival, one case of intrauterine death and one of neonatal death. The fetal and neonatal deaths occurred in cases with associated anomalies or abnormal genetic findings. Postnatal treatment was mostly conservative, with only two reports (18% of the 11 surviving neonates) of surgical intervention, both in cases with associated anomalies. Postnatal follow‐up was up to 1 year in most cases, and motor outlook appeared normal in all isolated cases. Conclusions: CKD is a rare fetal anomaly with a prenatal diagnosis achievable from the early second trimester, for which a favorable outcome can be expected when no associated anomalies are present. Prenatal diagnosis should include detailed ultrasound assessment and amniocentesis for extensive genetic studies, particularly in non‐isolated cases. Early postnatal treatment achieves success in most cases without surgical intervention and leads to a normal motor outlook. © 2023 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]

Diastematomyelia is a type of closed spinal dysraphism in which there is splitting of the spinal cord. It is a rare entity that accounts for less than 3% of closed spinal dysraphisms and affects females 1.3 to 6 times more frequently than males. Lesions are usually found in the lower thoracic and upper lumbar regions. It is characterised by two hemicords separated by a bony or cartilaginous spur. In most cases, it is an isolated malformation with a favourable prognosis. However, it may be associated with other abnormalities and sonography is the imaging test par excellence for early prenatal diagnosis. We report a case of diastematomyelia diagnosed by prenatal sonography at 24 weeks' gestation. Amniotic fluid alpha-fetoprotein (AF-AFP) was normal, while amniotic fluid acetylcholinesterase (AF-AChE) was positive. After birth, the diagnosis was confirmed with magnetic resonance imaging (MRI). The anomaly was associated with a spinal lipoma, tethered cord and dermal sinus. A review of all the cases described in the literature to date is carried out. [ABSTRACT FROM AUTHOR]

(1) Background: To examine the incidence of the prenatal diagnosis of the renal double-collecting system (rDCS) and describe its clinical outcome and associated genetic abnormalities. (2) Methods: This retrospective study included women who attended the obstetric clinic for early fetal anatomic sonography with findings of a renal DCS. Diagnosis was conducted by an expert sonographer using defined criteria. (3) Results: In total, 29,268 women underwent early ultrasound anatomical screening at 14–16 weeks, and 383 cases of rDCS were diagnosed (prevalence: 1:76). Associated abnormalities were diagnosed in eleven pregnancies; four had chromosomal aberrations. No chromosomal abnormalities were reported in isolated cases. Ectopic uretrocele and dysplastic kidney were diagnosed in 6 (1.5%) and 5 (1.3%) fetuses, respectively. One girl was diagnosed with vesicoureteral reflux and recurrent UTIs, and two boys were diagnosed with undescended testis. The recurrence rate of rDCS was 8% in subsequent pregnancies. (4) Conclusions: In light of its benign nature, we speculate that isolated rDCS may be considered a benign anatomic variant, but a repeat examination in the third trimester is recommended to assess hydronephrosis. [ABSTRACT FROM AUTHOR]

• Prenatal ultrasound-based diagnosis of epidermolysis bullosa is difficult, but not impossible. Several sonographic signs, even if nonspecific, are more frequently reported in the few cases described in literature to date. • The prenatal ultrasound confirms a good level of accuracy in assessing fetuses with suspicion of epidermolysis bullosa. • This paper suggests for future investigations to carefully evaluate the muco-cutaneus areas, including the perioral area. The fetal mobility and the 3D ultrasound should be part if the examination. This is the first systematic review specifically focused on prenatal ultrasound signs of EB. Epidermolysis bullosa is a rare hereditary autosomal disease that is included in the heterogeneous group of genodermatosis. It is characterized by skin and mucous membranes fragility and denudation, and it can be associated with pyloric atresia. Prognosis is often poor, and death can occur in neonatal period due to severe sepsis. We present a case of fetal junctional epidermolysis bullosa in a consanguineous couple, highly suggested by previous obstetric history and several antenatal ultrasound signs, such as polyhydramnios, gastric enlargment, the "snowflake sign", abnormal external ears, signs of skin desquamation, lower limbs anomalies and chorioamniotic membrane separation. We describe a marked perioral hipoecogenicity as a novel sign of skin-mucous denudation, which could be helpful for future diagnosis. A review of literature, focused specifically on the antenatal sonography role, is also reported. Prenatal ultrasound-based diagnosis of epidermolysis bullosa is difficult, especially in apparently low risk contexts, but may be possible. [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]

This paper looks at three televised examples of pregnant women grappling with prenatal testing. In these stories, prenatal testing for disability is increasingly being framed as a requirement of responsible motherhood, and termination of pregnancies with diagnoses of disability shown as the logical choice. Disability is frequently depicted to be an anxiety-inducing or disappointing outcome. Previous research has shown televised depictions of pregnancy to be influential; the narratives illustrated here reinforce the discourse that disability is a burden for potential parents and entrench the view that fetal value is defined by "health," which is constructed in binary opposition with disability. Ultimately, these media depictions can have far-reaching effects in terms of pregnant people's feelings about the need to use prenatal testing, their diagnoses, and their decisions regarding both testing and termination. [ABSTRACT FROM AUTHOR]

Background: Fetal cerebral aneurysm other than aneurysm of vein of Galen aneurysmal malformation (VGAM) is extremely rare. This report describes prenatal features of aneurysm of the posterior cerebral artery (APCA) with rapid progression and its natural intrauterine course of the disease, which has never been reported. Case presentation: This is the first report of prenatal features of APCA, detected at 34–36 weeks of gestation, simulating choroid plexus cyst or arachnoid cyst. The diagnosis was based on color flow ultrasound with tracing along the course of cerebral arteries. Also, rendered 3D color flow ultrasound was helpful in demonstrating course of the vessels feeding the aneurysm and supporting the diagnosis. The aneurysm showed nature of rapidly progressive changes, leading to leakage resulting in intracerebral and intraventricular hemorrhage as well as high output state associated with anemia. Prenatal diagnosis and management are very challenging. This case ended up with planned delivery at 37 weeks, giving birth to a surviving male newborn, weighing 2600 g. The neonatal CT brain scans and CTA confirmed the prenatal findings. The prognosis was relatively poor because of extensive intracerebral hemorrhage with severe hydrocephalus and brain midline shift. The couple opted for neonatal palliative care without neurosurgical correction. Conclusion: This study demonstrate that the most important tool for prenatal diagnosis is color Doppler ultrasound, which will demonstrate turbulent blood flow. Three-dimension color Doppler ultrasound is helpful in supporting the diagnosis. The case presented here suggests that the disease has a natural course of rapid progression and massive brain destruction or high output congestive heart failure can be expected. [ABSTRACT FROM AUTHOR]

Vein of Galen aneurysmal malformation (VGAM) is a rare intracranial vascular malformation, commonly diagnosed using ultrasound in the third trimester of pregnancy. There is a 2-3:1 male predominance. The prenatal diagnosis enhances appropriate perinatal management. If the prenatal diagnosis is missed, VGAM is reported to be fatal in many cases, due to cardiac and neurological complications. A 24-year-old pregnant woman was referred to our tertiary prenatal diagnosis unit (University of Medicine and Pharmacy of Craiova, County Emergency Clinical Hospital of Craiova) for vascular cerebral malformation suspicion. We confirmed a turbulent arterial and venous flow using the color Doppler technique, within an anechoic structure, located in the midline of the posterior part of the third ventricle. The fetus did not develop signs of hydrops or cardiac failure in the prenatal period. The magnetic resonance imaging (MRI) was performed at 36 weeks of amenorrhea, to confirm the sonographic findings and to better predict the postnatal outcome, in the Radiology and Imaging Department of our university. The fetus (female, Apgar score 9, weighing 2720 grams) was delivered by caesarean section, at 37 gestational weeks. The neonatal period was complicated by pulmonary hypertension and mild cardiac events. The child evolved spontaneously favorably. At 32 months, the MRI showed normal intracranial vasculature. Currently, at 5 years of age, she has a completely normal neurologic development. In the last 15 years, the prenatal diagnosis of VGAM has been facilitated by the use of color Doppler mode, which is crucial for differentiating this malformation from midline cystic lesions of the fetal brain (being the only lesion that accurately displays blood flow within it). Fetal MRI may play an important role in customizing perinatal and long-term management. To our knowledge, this is the first case ever reported having a prenatal diagnosis and a spontaneous complete regression. [ABSTRACT FROM AUTHOR]

Background and objectives. Gastroschisis is a low-prevalence fetal anomaly with an excellent long-term prognosis and survival rates if early and adequate management is performed. It can be easily identified both prenatally and postnatally. It is described depending on the location of the defect, most often to the right side of a normally inserted umbilical cord. Prenatal ultrasound scans proved to be fundamental for the early diagnosis and for the prediction of likelihood complications, such as bowel atresia. Case report. We hereby present a fetus with gastroschisis who was diagnosed in the second trimester of pregnancy. After delivery, the newborn received proper surgical care and had a favorable outcome. At 4 years old, the baby had regular follow-ups as an outpatient, receiving full enteral nutrition. No hepatic damage was detected. We underline that there have been significant improvements in the outcome of newborns diagnosed with gastroschisis in the last 30 years, due to the in utero detection of this anomaly and to standardized neonatal care. Materials and method. We performed a systematic review of the available literature from 2013 to 2023 using PubMed and Google Scholar databases to search for published studies regarding ultrasound diagnosis and surgical management of gastroschisis according to PRISMA guidelines. The following search terms were used: "gastroschisis", "ultrasound", "neonatal surgery". Results. After the appropriate screening, we selected 15 papers. The diagnosis was first reached in one case in the first trimester, in seven cases during the second trimester and, respectively, two cases in the third trimester. In one case, the ultrasound showed normal previous scans, and for four cases, there were no available data for the gestational age at diagnosis. Surgery was performed on the first day of life for 11 neonates, and on the third, fourth, eighth and thirty-eighth days for the others. Conclusions. Multidisciplinary teams, including maternal-fetal medicine specialists, neonatologists and pediatric surgeons, are highly advised. This assures the best prenatal counseling and postnatal care. [ABSTRACT FROM AUTHOR]

Introduction. Placenta praevia (PP) is an obstetrical complication where the maturing placenta obstructs a part or all of the internal cervical os. Abnormal placenta invasion and development are associated with a spectrum of conditions rather than a single obstetric pathology. Objective. To review the ultrasound markers for placenta praevia in our experience and correlate the imagistic and histopathological findings. Methodology. This is a retrospective study including 259 patients admitted with the diagnosis of PP in the Obstetrics-Gynecology Clinic II of the County Emergency Clinical Hospital Craiova, Romania, between 2018 and 2023. Results. The most important ultrasound features associated with placenta praevia with accreta were loss of retroplacental hypoechoic area, presence of placental lacunae, presence of bladder wall discontinuity, placental bulge, exophytic mass, subplacental and/or uterovesical hypervascularity, placental lacunae feeder vessels, and bridging vessels. According to the degree of placental invasiveness, the histopathological evaluation showed disorganization of the uterine wall, myocytes anarchically distributed among the villi and decidual cells, neoformation vessels invading the myometrium, and these aspects were correlated with hyperadherence and significant antepartum and intrapartum bleeding. Conclusions. The aforementioned ultrasound features may put doctors on alert and, thus, dictate the appropriate therapeutic management to prevent complications that could endanger fetal or maternal life. [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]

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: Prenatal diagnosis of a rare disease on ultrasound relies on a physician's ability to remember an intractable amount of knowledge. We developed a real‐time decision support system (DSS) that suggests, at each step of the examination, the next phenotypic feature to assess, optimizing the diagnostic pathway to the smallest number of possible diagnoses. The objective of this study was to evaluate the performance of this real‐time DSS using clinical data. Methods: This validation study was conducted on a database of 549 perinatal phenotypes collected from two referral centers (one in France and one in the UK). Inclusion criteria were: at least one anomaly was visible on fetal ultrasound after 11 weeks' gestation; the anomaly was confirmed postnatally; an associated rare disease was confirmed or ruled out based on postnatal/postmortem investigation, including physical examination, genetic testing and imaging; and, when confirmed, the syndrome was known by the DSS software. The cases were assessed retrospectively by the software, using either the full phenotype as a single input, or a stepwise input of phenotypic features, as prompted by the software, mimicking its use in a real‐life clinical setting. Adjudication of discordant cases, in which there was disagreement between the DSS output and the postnatally confirmed ('ascertained') diagnosis, was performed by a panel of external experts. The proportion of ascertained diagnoses within the software's top‐10 differential diagnoses output was evaluated, as well as the sensitivity and specificity of the software to select correctly as its best guess a syndromic or isolated condition. Results: The dataset covered 110/408 (27%) diagnoses within the software's database, yielding a cumulative prevalence of 83%. For syndromic cases, the ascertained diagnosis was within the top‐10 list in 93% and 83% of cases using the full‐phenotype and stepwise input, respectively, after adjudication. The full‐phenotype and stepwise approaches were associated, respectively, with a specificity of 94% and 96% and a sensitivity of 99% and 84%. The stepwise approach required an average of 13 queries to reach the final set of diagnoses. Conclusions: The DSS showed high performance when applied to real‐world data. This validation study suggests that such software can improve perinatal care, efficiently providing complex and otherwise overlooked knowledge to care‐providers involved in ultrasound‐based prenatal diagnosis. © 2023 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]

The aim of this study was to evaluate the agreement between visual and automatic methods in assessing the adequacy of fetal cardiac views obtained during second trimester ultrasonographic examination. In a prospective observational study frames of the four-chamber view left and right outflow tracts, and three-vessel trachea view were obtained from 120 consecutive singleton low-risk women undergoing second trimester ultrasound at 19–23 weeks of gestation. For each frame, the quality assessment was performed by an expert sonographer and by an artificial intelligence software (Heartassist™). The Cohen's κ coefficient was used to evaluate the agreement rates between both techniques. The number and percentage of images considered adequate visually by the expert or with Heartassist™ were similar with a percentage >87 % for all the cardiac views considered. The Cohen's κ coefficient values were for the four-chamber view 0.827 (95 % CI 0.662–0.992), 0.814 (95 % CI 0.638–0.990) for left ventricle outflow tract, 0.838 (95 % CI 0.683–0.992) and three vessel trachea view 0.866 (95 % CI 0.717–0.999), indicating a good agreement between the two techniques. Heartassist™ allows to obtain the automatic evaluation of fetal cardiac views, reached the same accuracy of expert visual assessment and has the potential to be applied in the evaluation of fetal heart during second trimester ultrasonographic screening of fetal anomalies. [ABSTRACT FROM AUTHOR]

Background: VACTERL association consists of Vertebral, Anorectal, Cardiac, Tracheo-Esophageal, Renal, and Limb defects. The diagnosis depends on the presence of at least three of these structural abnormalities. Methods: The clinical presentation and diagnostic prenatal imaging of VACTERL association are comprehensively reviewed. Results: The most common feature is a vertebral anomaly, found in 60–80% of cases. Tracheo-esophageal fistula is seen in 50–80% of cases and renal malformations in 30% of patients. Limb defects including thumb aplasia/hypoplasia, polydactyly, and radial agenesis/hypoplasia are present in 40–50% of cases. Anorectal defects, like imperforate anus/anal atresia, are challenging to detect prenatally. Conclusion: The diagnosis of VACTERL association mostly relies on imaging techniques such as ultrasound, computed tomography, and magnetic resonance. Differential diagnosis should exclude similar diseases such as CHARGE and Townes-Brocks syndromes and Fanconi anemia. New insights into genetic etiology have led to recommendations of chromosomal breakage investigation for optimal diagnosis and counseling. [ABSTRACT FROM AUTHOR]

Introduction: The aim of this study was to evaluate whether selected prenatal markers obtained from fetal echocardiography can predict postnatal outcome in congenital diaphragmatic hernia (CDH) patients. We also aimed to verify the prognostic value of lung-to-head ratio (LHR). Material and methods: The study group included 29 fetuses with CDH. We analyzed potentially prognostic parameters measured using fetal echocardiography and fetal ultrasound. The assessed parameters were compared between the group of patients with CDH who survived to discharge (n = 21) and the subset of patients who died before discharge from hospital (n = 8). Results: In survivors, mean z-score for ascending aorta (AAo) diameter was 0.23 ±0.98 vs. - 1.82 ±1.04 in patients who died (t-test, p = 0.0015). In survivors, the main pulmonary artery/ascending aorta ratio was 1.22 ±0.17 vs. 1.46 ±0.21 in patients who died (t-test, p = 0.017). In survivors, the LHR was 1.81 ±0.96 vs. 0.95 ±0.6 in patients who died (t-test, p = 0.019). In survivors, the observed to expected LHR was 57 ±30% vs 30 ±18% in patients who died (t-test, p = 0.018). Conclusions: Narrowing of the ascending aorta in CDH fetuses is a poor prognostic factor associated with increased mortality in neonates. Our study also confirmed the prognostic value of LHR. [ABSTRACT FROM AUTHOR]

Lymphangioma is a congenital anomaly in which abnormal lymphatic drainages localize to form a benign mass, but it has the tendency to grow in size and the potential to infiltrate surrounding structures, causing devastating effects and leading to severe morbidity. The most common site of lymphangioma is the neck region (cystic hygroma colli), whereas lymphangioma in the lower limbs is very rare, accounting for only 2% of cases. Accordingly, the prenatal diagnosis of lymphangioma of the lower limbs has been scarcely reported. This study describes two cases of lymphangioma of the lower limbs, focusing on unique sonographic features and the natural course of rapidly progressive changes, which is different from nuchal lymphangioma. Based on previous isolated case reports together with our two cases, lymphangioma of the lower limbs usually develops in the second trimester, tends to have rapidly progressive changes, and is unlikely to be associated with aneuploidy and structural anomalies. Diagnoses can be made by using sonographic findings pertaining to the subcutaneous complex and multi-septate anechoic cystic lesions in the lower limbs, the latter of which can infiltrate visceral structures. Prenatal detection can be helpful in laying the groundwork for providing counseling to the parents and the planning of management strategies, i.e., opting to terminate the pregnancy, revising delivery plans, and looking towards the postnatal management of the infant. [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]

Objective: To report on a large cohort of fetuses with mild forms of tubulinopathy and to define prenatal ultrasound and magnetic resonance imaging (MRI) features that can facilitate prenatal diagnosis. Methods: This was a retrospective multicenter study of fetuses diagnosed between January 2007 and February 2022 with a mild tubulinopathy (without lissencephaly or microlissencephaly). We collected and reviewed brain imaging and genetic data, and defined major criteria as findings observed in ≥ 70% of the patients and minor criteria as those observed in ≥ 50% but < 70% of the patients. Results: Our cohort included 34 fetuses. The mean gestational age at ultrasound screening, when suspicion of a central nervous system anomaly was first raised, was 24.2 (range, 17–33) weeks. Callosal anomalies (n = 19 (56%)) and abnormal ventricles (n = 18 (53%)) were the main reasons for referral. The mean gestational age at neurosonography was 28.3 (range, 23–34) weeks and that at MRI was 30.2 (range, 24–35) weeks. Major ultrasound criteria were midline distortion, ventricular asymmetry, dysmorphic and/or dilated frontal horn(s) and abnormal sulcation. Minor ultrasound criteria were distortion of the cavum septi pellucidi, abnormal corpus callosum, absent or asymmetric olfactory sulci, ventriculomegaly and basal ganglia dysmorphism. Major MRI criteria were midline distortion, distortion of the cavum septi pellucidi, ventricular asymmetry, dilatation (generally unilateral) and/or distortion, dysmorphic and/or dilated frontal horn(s) and abnormal sulcation (mainly dysgyria). Minor MRI criteria were absent or asymmetric olfactory sulci, abnormal bulge of the pons, anteroposterior diameter of the pons ≤ 5th centile and brainstem asymmetry. A mutation was found in TUBB3 (44.1% of cases), TUBB (23.5%), TUBB2B (14.7%) or TUBA1A (17.6%). The mutation was inherited from a parent in 18/34 cases. The pregnancy was terminated in 23/34 cases. Conclusions: Prenatal diagnosis of mild forms of tubulinopathy is possible but challenging. We have defined, in this large series of fetuses, major and minor criteria that can help identify this entity in utero. Most findings can be visualized on ultrasound. This evaluation is also important for prenatal counseling. Once a prenatal diagnosis of mild tubulinopathy is suspected, the family members should be referred for exome sequencing and MRI. © 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]