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Background: This study aimed to explore the genetic basis of a fetus with ultrasound indicating a thickening of the nuchal translucency (NT) and a choroid plexus cyst. Methods: Fetal amniotic fluid and peripheral blood were collected for a G-banding karyotype analysis and single nucleotide polymorphism array (SNP-array) detection. Results: The chromosome karyotypes of the fetus and its parents were normal. SNP-array showed the fetus had carried 277 kb microdeletion at 14q11.2, which was a new mutation. After the induced abortion, the fetus was diagnosed with macrocephaly. Conclusions: A prenatal diagnosis of a fetus with 14q11.2 microdeletion-induced intrauterine growth retardation was confirmed, which has provided guidance for the subsequent pregnancy. [ABSTRACT FROM AUTHOR]

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

Purpose: To describe fetal brain Magnetic Resonance Imaging (MRI) findings in a large series of monochorionic (MC) pregnancies complicated by Twin Anemia-Polycythemia Sequence (TAPS) prenatally diagnosed, so to characterize the potential intracranial complications associated with this condition, their frequency and potential treatment options. Methods: This is a retrospective study of MC twin pregnancies complicated by TAPS and undergone fetal MRI in a single institution from 2006 to 2023. MRI control was performed and post-natal ultrasound (US) or MRI were available. Results: 1250 MC pregnancies were evaluated in our institution. 50 pregnancies (4%) were diagnosed with TAPS, 29 underwent a fetal brain MRI. 13/29 pregnancies (44.8%) demonstrated brain findings at MRI in at least a twin. Neuroradiological findings were detected in 14/57 twins (24.6%). We detected four main categories of findings: hemorrhagic lesions, T2-weighted white-matter hyperintensities (WMH), brain edema-swelling and venous congestion. Nineteen findings were present in the anemic and three in the polycythemic twins, with a statistically significant ratio between the two groups (p-value = 0.01). Intrauterine MRI follow-up demonstrated the sequalae of hemorrhagic lesions. A complete regression of brain swelling, veins prominence and T2-WMHs was demonstrated after treatment. Postnatal imaging confirmed prenatal features. Conclusions: Our work demonstrates that TAPS-related MRI anomalies consisted in edematous/hemorrhagic lesions that occur mostly in anemic rather than in polycythemic twins. Fetoscopic laser surgery could have a potential decongestant role. Therefore, prenatal MRI may help in counselling and management in TAPS pregnancies, especially for the planning of therapy and the monitoring of its efficacy. [ABSTRACT FROM AUTHOR]

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

Uterine rupture is a rare and life-threatening condition. It usually occurs in patients with uterine scars (most commonly for a previous myomectomy or caesarean section), but it can also affect an unharmed uterus. This complication is more frequent in the third trimester and during delivery. There is not yet a recognised method of prediction of uterine rupture and the ultrasound features still need a consensus. In this article, we have reported a case of uterine dehiscence diagnosed by a pelvic ultrasound and magnetic resonance (MRI) at 24 weeks of gestation. The finding was confirmed intraoperatively at the caesarean section at 29 weeks of gestation. The 40-year-old patient has had a previous pregnancy complicated by uterine rupture at 22 weeks of gestation, following six previous abdominal surgeries for stage IV endometriosis, diffuse and nodular adenomyosis, and pelvic adhesion syndrome. The early detection of uterine dehiscence allowed us to prolong the pregnancy and perform a subsequent fertility-sparing surgery, reducing maternal and neonatal morbidity and mortality. Our case report proves that women with severe endometriosis/adenomyosis are at a high risk of uterine rupture and scar dehiscence. The antenatal ultrasound can describe a uterine dehiscence (even in asymptomatic patients) and prevent complications. [ABSTRACT FROM AUTHOR]

Conjoined twins have an estimated prevalence between one in 50,000 and one in 1,00,000 births. Prenatal two- and threedimensional (2D and 3D) real-time ultrasonography is the most reliable method for establishing a prenatal diagnosis and detecting associated anomalies. Recent improvements in ultrasonography have made early diagnosis of conjoined fetuses in the first trimester possible. Most cases of conjoined twins occur in monochorionic monoamniotic pregnancies, making sonographic identification of distinct placentae and/or intervening amniotic membrane(s) a criterion to exclude fetal conjunction. There are two opposing pathogenetic theories, supporting fission vs fusion of embryos in the early first trimester. In very rare cases of diamniotic monochorionic conjoined twins, a distinct pathogenetic mechanism of conjoined twinning, similar to that of body stalk anomaly may exist. Prenatal diagnosis of conjoined fetuses is essential for further management. Parents need detailed counseling in order to decide among various management options--(1) pregnancy continuation and scheduled neonatal surgery, (2) termination of pregnancy, and (3) multifetal pregnancy reduction or selective fetocide in cases of high-order multifetal pregnancies with a component of conjoined fetuses. Pre- and postnatal management is challenging, and an interdisciplinary medical team involving obstetricians, neonatologists, pediatric surgeons, and anesthetists should carefully approach and assist parents in their decisions. In special cases, additional consultation by specialized centers in other countries may be needed. Furthermore, adequate psychosocial support should be offered, and palliative care services should be available in selected cases. [ABSTRACT FROM AUTHOR]

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

Triploidy and monosomy X (Turner syndrome) are the two most common chromosomal anomalies at conception. Their prevalence decreases with increasing gestational age (GA), and they are relatively rare at birth. These genetic conditions can be prenatally or postnatally detected by karyotyping [chromosome analysis of fetal cells collected by chorionic villous sampling (CVS) or amniocentesis or blood lymphocytes]. Triploidy is caused by a complete extra set of chromosomes (the presence of 69 chromosomes). If the extra set of chromosomes is maternal in origin, the disease is called digynic triploidy, while if the extra set of chromosomes is paternal in origin, the disease is called diandric triploidy. Triploidy is lethal, most affected embryos are miscarried; however, some individuals survive a few hours or days after birth. Turner syndrome is an aneuploidy (monosomy X) in which only one chromosome X is present, and the other sex chromosome is either absent or abnormal. Severe forms of Turner syndrome present major fetal anomalies, including fetal hydrops and usually progress to early fetal demise (the lethal Turner phenotype). Postnatally, Turner syndrome presents as a form of primary ovarian insufficiency, determined by a gonadic digenesis (not by agenesis). Both triploidy and Turner syndrome must be taken in consideration if sonography reveals minor or major abnormalities in the first or second trimester of pregnancy. Active screening in the general pregnant population is not justified for these conditions alone. Both conditions can be diagnosed prenatally in individual cases. [ABSTRACT FROM AUTHOR]

We report a case of fetal nasal chondromesenchymal hamartoma (NCMH) first noted on prenatal ultrasound at 34 weeks. A solid‐cystic mass which predominantly hyperechoicgenic and relatively clear margin, was located on the left nasal cavity and pharynx, with anterior extension and moderate blood flow. Further follow‐up ultrasound examination depicted an enlargement of the tumor. Fetal magnetic resonance imaging (MRI) showed an inhomogeneous signal lesion involving the ethmoid sinuses, nasal cavity, and pharynx. The infant, delivered via cesarean section at 37 + 5 weeks, required urgent neonatology intervention due to respiratory difficulties. Neonatal MRI and computer tomography were subsequently performed at 1 day after birth. Surgical excision occurred at 7 days, confirming NCMH via histological examination. Awareness of this entity, is essential to avoid potentially harmful therapies, especially in prenatal period. Considered NCMH in diagnosis when fetal nasal masses presenting with predominantly high‐level echo, well‐defined margins and moderate vascularity. [ABSTRACT FROM AUTHOR]

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

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

Objective: To compare the performance of two‐dimensional ultrasound (2D‐US), three‐dimensional ultrasound (3D‐US) and magnetic resonance imaging (MRI) at 36 weeks' gestation in predicting the delivery of a large‐for‐gestational‐age (LGA) neonate, defined as birth weight ≥ 95th percentile, in patients at high and low risk for macrosomia. Methods: This was a secondary analysis of a prospective observational study conducted between January 2017 and February 2019. Women with a singleton pregnancy at 36 weeks' gestation underwent 2D‐US, 3D‐US and MRI within 15 min for estimation of fetal weight. Weight estimations and birth weight were plotted on a growth curve to obtain percentiles for comparison. Participants were considered high risk if they had at least one of the following risk factors: diabetes mellitus, estimated fetal weight ≥ 90th percentile at the routine third‐trimester ultrasound examination, obesity (prepregnancy body mass index ≥ 30 kg/m2) or excessive weight gain during pregnancy. The outcome was the diagnostic performance of each modality in the prediction of birth weight ≥ 95th percentile, expressed as the area under the receiver‐operating‐characteristics curve (AUC), sensitivity, specificity and positive and negative predictive values. Results: A total of 965 women were included, of whom 533 (55.23%) were high risk and 432 (44.77%) were low risk. In the low‐risk group, the AUCs for birth weight ≥ 95th percentile were 0.982 for MRI, 0.964 for 2D‐US and 0.962 for 3D‐US; pairwise comparisons were non‐significant. In the high‐risk group, the AUCs were 0.959 for MRI, 0.909 for 2D‐US and 0.894 for 3D‐US. A statistically significant difference was noted between MRI and both 2D‐US (P = 0.002) and 3D‐US (P = 0.002), but not between 2D‐US and 3D‐US (P = 0.503). In the high‐risk group, MRI had the highest sensitivity (65.79%) compared with 2D‐US (36.84%, P = 0.002) and 3D‐US (21.05%, P < 0.001), whereas 3D‐US had the highest specificity (98.99%) compared with 2D‐US (96.77%, P = 0.005) and MRI (96.97%, P = 0.004). Conclusions: At 36 weeks' gestation, MRI has better performance compared with 2D‐US and 3D‐US in predicting birth weight ≥ 95th percentile in patients at high risk for macrosomia, whereas the performance of 2D‐US and 3D‐US is comparable. For low‐risk patients, the three modalities perform similarly. © 2023 International Society of Ultrasound in Obstetrics and Gynecology. [ABSTRACT FROM AUTHOR]

Central nervous system (CNS) malformations encompass diverse congenital anomalies impacting brain and spinal cord development, profoundly affecting neurological function. They arise from disruptions in embryonic neural tube formation, neuronal migration, and cortical organization. This abstract provides a comprehensive overview of CNS malformations, covering classification, etiology, clinical manifestations, and diagnostic challenges. CNS malformations fall into distinct groups: neural tube defects (e.g., anencephaly, spina bifida), resulting from incomplete neural tube closure; malformations of cortical development (e.g., lissencephaly, polymicrogyria), featuring irregularities in cortical folding; and anomalies affecting structures like the corpus callosum, cerebellum, and CNS vasculature, alongside conditions such as hydrocephalus and Chiari malformations. Genetic factors, including mutations in LIS1, DCX, and RELN, contribute significantly, while environmental factors like maternal folic acid deficiency also play a role. Some malformations occur in genetic syndromes (e.g., tuberous sclerosis, neurofibromatosis). Clinical presentations vary, with neural tube defects typically presenting severe deficits at birth, while cortical malformations manifest as intellectual disabilities, seizures, and motor deficits. Hydrocephalus elevates intracranial pressure, and Chiari malformations cause headaches and neurological symptoms. Diagnosis necessitates a multidisciplinary approach involving clinical evaluation, neuroimaging, genetic testing, and histopathological analysis. Prenatal diagnosis via ultrasound and magnetic resonance imaging is crucial for planning interventions, while postnatal diagnosis relies on clinical and imaging findings. Understanding CNS malformations is vital for early detection, intervention, and comprehensive care provision. Advances in genetics and neuroimaging offer hope for improved outcomes and better quality of life for affected individuals. [ABSTRACT FROM AUTHOR]

A 23 yr old primigravida reported for a 1st-trimester antenatal scan at 12 weeks of gestation. Sonography revealed findings consistent with Cystic Hygroma with Hydrops fetalis. The case merits discussion to reflect upon the findings of these rare co-existing grave medical conditions in the fetus and emphasize the relevance of timely antenatal diagnosis of Cystic Hygroma with concomitant hydrops, the condition known to have a very high rate of fetal mortality. The relevant review of literature and findings of the case are discussed thence. [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]

Introduction: The aim of this study was to use computerized analysis of the grayscale spectrum (histogram) to provide an objective assessment of the echogenicity of the fetal bowel. Moreover, we investigated the role of histogram analysis in the prenatal prediction of postnatal outcomes in fetuses with echogenic bowel (fetal echogenic bowel [FEB]). Methods: This is a single-center retrospective study including all fetuses with a diagnosis of echogenic bowel (FEB) in the mid-second trimester between 2015 and 2021. Ultrasound images were analyzed using ImageJ software. The mean of the grayscale histograms of the bowel, liver, and iliac/femur bone was obtained for each patient, and the ratio between these structures was used to overcome gain variations. We compared these values with those of a matched control group of singleton uncomplicated pregnancies and with a group of patients referred for FEB, where the FEB was not confirmed by the expert operator (FEB false-positive). Results: There was a statistically significant difference between bowel/liver and bowel/bone histogram ratios between the FEB group and the control groups (p < 0.05). Mean ratio cutoffs were provided for the diagnosis of FEB. Among the patients with confirmed FEB, both ratios were not able to discriminate the cases with adverse outcomes. In contrast, the presence of dilated bowel or other markers was associated with an adverse outcome. Conclusions: Histogram analysis may refine the diagnosis of FEB and reduce the number of false-positive diagnoses. For the prediction of the fetal outcome, the presence of additional features is clinically more significant than the degree of bowel echogenicity. [ABSTRACT FROM AUTHOR]

Objective: To systematically evaluate the association of prenatal thoracic ultrasound abnormalities with copy number variants (CNVs). Methods: Chromosomal microarray (CMA) data and clinical characteristics from fetuses with thoracic ultrasound abnormalities were retrieved and analyzed. Results: Thoracic ultrasound findings were mainly isolated except for fetal pleural effusion (FPE) and pulmonary hypoplasia. The diagnostic yield of CMA for thoracic anomaly was 9.66%, and FPE (17/68, 25%), pulmonary hypoplasia (1/8, 12.5%), and congenital diaphragmatic hernia (CDH) (6/79, 7.59%) indicated relatively high pathogenic/likely pathogenic (P/LP) CNV findings. The detection rate for P/LP CNVs was obviously increased in non‐isolated thoracic anomalies (27.91% vs. 1.96%, P < 0.0001), non‐isolated FPE (37.78% vs. 0%, P = 0.0007) and non‐isolated congenital pulmonary airway malformation (CPAM) (27.27% vs. 0%, P < 0.0001), and significantly different among thoracic anomalies. Additionally, the rate of termination of pregnancy in cases with non‐isolated thoracic anomalies (58.49% vs. 12.34%, P < 0.0001) and P/LP CNVs (85.71% vs. 24.15%, P < 0.0001) was obviously increased. Conclusion: The present study expanded phenotype spectrums for particular recurrent CNVs. FPE, CDH, and pulmonary hypoplasia indicated relatively high P/LP CNV findings among common thoracic ultrasound abnormalities, CPAM associated with other ultrasound abnormalities increased the incidence of diagnostic CNVs, while bronchopulmonary sequestration might not be associated with positive CNVs. The present data recommended CMA application for cases with prenatal thoracic ultrasound abnormalities, especially non‐isolated FPE, non‐isolated CPAM, CDH, and pulmonary hypoplasia. Synopsis: The diagnostic yield for CNVs and pregnancy outcomes varied significantly among prenatal thoracic ultrasound abnormalities, and phenotype spectrums for recurrent CNVs were expanded. [ABSTRACT FROM AUTHOR]

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

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

Synopsis: We describe the case of Aarskog‐Scott syndrome in a twin pregnancy with the prenatal finding of shortened fetal long bones. [ABSTRACT FROM AUTHOR]

We describe a case of collodion baby diagnosed prenatally by ultrasound. Classic signs (ectropion, flattened nose, and eclabion) were detected on routine ultrasound at 21 weeks of gestation. At birth, the presence of collodion membrane was confirmed and subsequently, the diagnosis of an autosomal recessive congenital ichthyosis due to compound heterozygosity of the TGM1 gene was made. [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]

Purpose: The application value of ultrasound soft indicators in prenatal diagnosis was evaluated by copy number variation sequencing (CNV-seq).Methods: The authors conducted a retrospective analysis of 422 pregnant women who underwent CNV-seq testing at Luoyang Maternal and Child Health Hospital between January 2020 and November 2021. The women had presented with abnormal ultrasound soft markers; those identified as high-risk through non-invasive prenatal screening were excluded.Results: A total of 43 abnormal cases were detected in 422 pregnant women, including 24 aneuploidy (including chimerism) and 19 pathogenic or likely pathogenic copy number variations (CNVs). Based on the characteristics of ultrasound soft indicators, pregnant women were divided into five groups: isolated nuchal translucency (NT) group, combined NT group, isolated soft indicators group, combined soft indicators group and combined non-NT group. The abnormality detection rates in the five groups were 12.38% (13/105), 36.11% (13/36), 3.74% (4/103), 3.08% (2/63) and 10.09% (11/109), respectively. Statistical tests showed that the detection rate in the NT thickening combined with other abnormalities group was significantly higher than the other four groups, while there was no statistical difference in the detection rate among the other four groups.Conclusion: When NT thickening is combined with other abnormalities, it is more likely to indicate chromosome abnormalities or CNVs, so it should be regarded seriously upon finding, and pregnant women should be referred for prenatal diagnosis according to the examination results. In addition, NT thickening is an important indicator for prenatal diagnosis and should be considered regardless of whether it occurs independently. The authors recommend CNV-seq for prenatal diagnosis to prevent missing small fragments of CNVs during traditional karyotyping. [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]

Within the last 34 years, three-dimensional (3D) sonography has undergone enormous development in prenatal diagnostics. On the one hand, this concerns transducer technology, and on the other hand, optimization in ultrasound device ergonomics. Advances in computer technology have also made it possible to accelerate the computational steps required for 3D sonography in ultrasound devices. The different 3D display modes that are available today offer enormous additional potential in prenatal diagnostics, especially for the examiner experienced in two-dimensional (2D) sonography. In this way, 2D planes can be controlled in a targeted manner, and unclear or complex structures, as well as axis deviations, can be spatially displayed. Fetal malformations can thus be precisely depicted from different angles or specifically excluded. In particular, surface defects can thus be clearly demonstrated to the parents-to-be. The aim of this publication is to provide an overview of the development and potential of 3D ultrasound technology in prenatal diagnostics. [ABSTRACT FROM AUTHOR]

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

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

Background: We aimed to investigate the efficacy of postnatal ultrasonography in detecting congenital anomalies of the kidneys and urinary tract in term infants without prenatal history of congenital anomalies of the kidneys and urinary tract. Methods: In this retrospective cohort study, we reviewed the records of term infants between six weeks and three months of age who underwent urinary tract ultrasonography during routine pediatric care. Results: Congenital anomalies of the kidneys and urinary tract were detected on prenatal ultrasonography in 75 of the 2620 patients included in the study. Congenital anomalies of the kidneys and urinary tract were detected via postnatal USG in 46 (1.8%) of 2554 patients without anomalies on prenatal USG screening. The most common anomaly was hydronephrosis (69.6%). Thirty-two cases of hydronephrosis, three cases of renal agenesis, four cases of horseshoe kidney, one case of MCDK, and two cases of duplex systems which were not detected on prenatal USG were detected on postnatal USG. On the other hand, 29 (1.1%) cases with mild or moderate hydronephrosis on prenatal ultrasonography did not have hydronephrosis on postnatal ultrasonography. Conclusions: In our study, approximately one-third of the cases of hydronephrosis, unilateral renal agenesis, duplex systems, horseshoe kidney, and ectopic kidney were not detected in prenatal ultrasonography screening. Therefore, we believe that in addition to prenatal ultrasonography screening, postnatal ultrasonography screening of all children for urinary tract anomalies would be beneficial. [ABSTRACT FROM AUTHOR]

This is a case of a fetus affected by an amniotic band detected at 20 weeks of gestation. A presumptive diagnosis was made based on the ultrasound features. The ultrasound showed an abnormally developed right lower limb and no other associated fetal abnormalities. The unilaterality of the defect decreases the chances of genetic abnormality or an early vascular insult. The postnatal examination of the newborn concluded that the prenatal diagnosis was right. [ABSTRACT FROM AUTHOR]

Objective: This study examined how clients' selection and preference for noninvasive prenatal testing (NIPT) for aneuploidy changed with genetic counseling (GC) performed by certified geneticists at a primary hospital specializing in obstetrics, where other multiple prenatal genetic tests options were available. Methods: A total of 334 couples who underwent GC between 2017 and 2019 were included in the study. The average age of the pregnant women who underwent GC was 35.1 years. Results: Among the 95 couples (28.4%) who wanted NIPT at the start of GC, 10 (10.5%) switched to other tests, and 4 (4.2%) chose not to undergo any test. Among the 106 (31.7%) couples who wanted the combination of ultrasonography and the serum marker test, 12 (11.3%) chose not to undergo the test. Among the 92 (27.5%) couples who were undecided before GC, 21 (22.8%) wanted NIPT, 31 (33.7%) selected combined tests, and 18 (19.6%) did not undergo any test. Conclusion: We have demonstrated the significance of GC before prenatal genetic testing under widespread use of NIPT. Ideally, obstetric facilities should provide GC, or at least, pre‐counseling at their own facilities, and offer multiple prenatal genetic testing options or refer to other facilities for the same. [ABSTRACT FROM AUTHOR]

Context: Klippel--Trenaunay--Weber syndrome (KTWS) is a rare disease characterized by a triad of venous malformations, vascular skin nevus and asymmetric hypertrophy of bone and soft tissue. The spectrum of disease in utero varies from asymptomatic nevus flammeus to life threatening complications like Kasabach--Merritt phenomena. Aim: The aim of this study was to review our experience of antenatal diagnosis of KTWS and it's postnatal management. Settings and Design: This was a retrospective observational study of all pregnant women who were antenatally diagnosed with KTWS and postnatally confirmed at a tertiary care center in north India between 2012 and 2021. Subjects and Methods: The electronic medical records were reviewed and data were collected regarding demographic information, obstetric history, clinical presentation, sonographic findings, mode of delivery, fetal outcome, and follow-up. Results: During the study period, four fetuses were diagnosed with KTWS on sonography. Three women were multigravida whereas one was a primigravida. Two women opted for medical termination of pregnancy and one each had liveborn child and an intra-uterine fetal death. KTWS was confirmed in all cases. The liveborn child underwent treatment for the vascular malformation and is alive at 4 years of age. Conclusions: This study attempts to add onto the available literature regarding the spectrum of prenatal presentations of KTWS. It emphasizes the importance of prenatal diagnosis and follow-up of the fetus/neonate. [ABSTRACT FROM AUTHOR]

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

Background: Standard noninvasive prenatal screening(NIPS) is an accurate and reliable method to screen for common chromosome aneuploidies, such as trisomy 21, 18 and 13. Extended NIPS has been used in clinic for not only aneuploidies but also copy number variants(CNVs). Here we aim to define the range of chromosomal abnormalities that should be able to identify by NIPS in order to be an efficient extended screening test for chromosomal abnormalities. Methods: A prospective study was conducted, involving pregnant women without fetal sonographic structural abnormalities who underwent amniocentesis. Prenatal samples were analyzed using copy number variation sequencing(CNV-seq) to identify fetal chromosomal abnormalities. Results: Of 28,469 pregnancies included 1,022 (3.59%) were identified with clinically significant fetal chromosome abnormalities, including 587 aneuploidies (2.06%) and 435 (1.53%) pathogenic (P) / likely pathogenic (LP) CNVs. P/LP CNVs were found in all chromosomes, but the distribution was not uniform. Among them, P/LP CNVs in chromosomes 16, 22, and X exhibited the highest frequencies. In addition, P/LP CNVs were most common on distal ends of the chromosomes and in low copy repeat regions. Recurrent microdeletion/microduplication syndromes (MMS) accounted for 40.69% of total P/LP CNVs. The size of most P/LP CNVs (77.47%) was < 3 Mb. Conclusions: In addition to aneuploidies, the scope of extended NIPS should include the currently known P/LP CNVs, especially the regions with recurrent MMS loci, distal ends of the chromosomes, and low copy repeat regions. To be effective detection should include CNVs of < 3 Mb. Meanwhile, sufficient preclinical validation is still needed to ensure the clinical effect of extended NIPS. [ABSTRACT FROM AUTHOR]

Background: Aortic coarctation (CoA) is the fourth most common congenital heart defect (8–10%) which occurs at a frequency of about 20–60/100,000 births. Only 22.3% of all cases appears to be diagnosed during the second trimester of pregnancy. Since the detection of prenatal aortic coarctations is very low, every effort should be made to change this situation. According to the authors of this study, the CSAi (carotid to subclavian artery index) could serve as a reliable indicator. Material and Methods: Ninety-six fetuses from healthy, single, pregnancies, with good ultrasound visualization between 18 and 27.5 weeks of gestation, and twenty-three fetuses suspected of aortic coarctation (postnatally confirmed) were included in this study. Our first aim was to compare the current most common method of prenatal CoA diagnosis based on the measurement of the aortic z-score in the aortic isthmus using the method suggested by us-CSAi. Results: Logistic regression coefficients for z-score and CSAi were analyzed as predictors of coarctation occurrence. It appears that 39.4% of coarctation occurrence can be predicted on the basis of the z-score, and 93.5% on the basis of the CSAi. The cut-off value for CSAi in the study group was 0.81 (sensitivity: 95.7%, specificity 99%). Based on the ROC curve analysis, the cut-off value for the carotid to subclavian distance (mm) was determined; the risk of coarctation increased above this value. Based on the Gini index (0.867), this value was set at 2.55 (sensitivity 82.6%, specificity 93.7%). Conclusions: CSAi measurement is currently the most sensitive method for aortic coarctation detection. For the purpose of our study, this method was applied in diagnostics in the second trimester of pregnancy. This method is easy, reproducible and should be widely introduced into everyday echocardiographic diagnostics of coarctation to minimize the risk of error. [ABSTRACT FROM AUTHOR]

Background: To develop an ultrasound scoring system for placenta accreta spectrum (PAS), evaluate its diagnostic value, and provide a practical approach to prenatal diagnosis of PAS. Methods: A total of 532 pregnant women (n = 184 no PAS, n = 120 placenta accreta, n = 189 placenta increta, n = 39 placenta percreta) at high-risk for placenta accreta who delivered in the Third Affiliated Hospital of Zhengzhou University between January 2021 and December 2022 underwent prenatal ultrasound to evaluate placental invasion. An ultrasound scoring system that included placental and cervical morphology and history of cesarean section was created. Each feature was assigned a score of 0 ~ 2, according to severity. Thresholds for the total ultrasound score that discriminated between no PAS, placenta accreta, placenta increta, and placenta percreta were calculated. Results: Univariate and multivariate regression analysis identified seven indicators of PAS that were included in the ultrasound scoring system, including placental location, placental thickness, presence/absence of the retroplacental space, thickness of the retroplacental myometrium, presence/absence of placental lacunae, retroplacental myometrial blood flow and history of cesarean section. Using the final ultrasound scoring system, no PAS is diagnosed at a total score < 5, placenta accreta or placenta increta is diagnosed at a total score 5–10, and placenta percreta is diagnosed at a total score ≥ 10. Conclusions: This study identified seven indicators of PAS and included them in an ultrasound scoring system that has good diagnostic efficacy and clinical utility. Trial registration: ChiCTR2300069261 (retrospectively registered on 10/03/2023). [ABSTRACT FROM AUTHOR]

Fetal intestinal volvulus is a rare condition that can lead to hemorrhage, bowel necrosis, and urgent surgical treatment after birth. Thus, prompt diagnosis and treatment are essential to avoiding fetal or neonatal demise. Prenatal ultrasound is a keystone tool in the diagnostic course. However, sonographic findings tend to be non-specific, with limited understanding of the pathophysiology behind their atypical presentation. With a literature review and a case series, we aim to optimize the antenatal diagnosis and management of this rare but life-threatening condition. Six cases from our institution were retrospectively analyzed over 12 years. A literature review was conducted until December 2022. A total of 300 articles matched the keyword "Fetal volvulus", and 52 studies were eligible for the review. Our 6 cases are added to the 107 cases reported in the literature of fetal intestinal volvulus with antenatal ultrasound assessment and without associated gastroschisis or omphalocele. Several prenatal symptoms and ultrasound markers, even if not specific, were more frequently reported. Different experiences of management were described regarding follow-up, the timing of delivery, the mode of delivery, and surgery outcomes. This paper highlights the importance of suspecting and assessing fetal volvulus at routine ultrasound scans, describing the most frequent antenatal presentations and management in order to improve fetal and neonatal outcomes. [ABSTRACT FROM AUTHOR]

Objectives: To report a case of prenatal diagnosis of ectopic intrathoracic kidney with diaphragmatic hernia managed surgically after birth, and to conduct a review of the literature on prenatal diagnosis of ectopic intrathoracic kidney and perinatal prognosis. Material and methods: We report the case of a 28-week fetus in which, on ultrasound imaging, a mass was observed displacing the heart and lung in the right hemithorax, which was was confirmed by magnetic resonance (MR) to be an ITEK. After birth, the neonate was approached by laparoscopy to place a mesh in continuity with the diaphragm, leaving the kidney in the abdomen, with good evolution. A search was conducted in the PubMed, Embase and Cochrane databases for cohorts, case reports and case series of prenatal diagnosis of intrathoracic kidney in the fetus. Information was retrieved regarding design, population, imaging diagnosis, treatment and prognosis. Results: The search identified 8 studies that met the inclusion criteria, reporting a total of 8 cases. Ultrasound diagnosis showed ectopic intrathoracic kidney associated with diaphragmatic hernia in all the subjects. Fetal magnetic resonance imaging (MRI) was also used in 5 cases. Conclusions: Ectopic intrathoracic kidney is a congenital abnormality amenable to prenatal diagnosis. Survival after corrective surgery performed in the neonatal period is common. There is a paucity of publications, limited to case reports, regarding the prenatal diagnosis of this condition. [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]

Fetal hyperechogenic kidneys (HEK) is etiologically a heterogeneous disorder. The aim of this study was to identify the genetic causes of HEK using prenatal chromosomal microarray analysis (CMA) and exome sequencing (ES). From June 2014 to September 2022, we identified 92 HEK fetuses detected by ultrasound. We reviewed and documented other ultrasound anomalies, microscopic and submicroscopic chromosomal abnormalities, and single gene disorders. We also analyzed the diagnostic yield of CMA and ES and the clinical impact the diagnosis had on pregnancy management. In our cohort, CMA detected 27 pathogenic copy number variations (CNVs) in 25 (25/92, 27.2%) fetuses, with the most common CNV being 17q12 microdeletion syndrome. Among the 26 fetuses who underwent further ES testing, we identified 7 pathogenic/likely pathogenic variants and 8 variants of uncertain significance in 9 genes in 12 fetuses. Four novel variants were first reported herein, expanding the mutational spectra for HEK-related genes. Following counseling, 52 families chose to continue the pregnancy, and in 23 of them, postnatal ultrasound showed no detectable renal abnormalities. Of these 23 cases, 15 had isolated HEK on prenatal ultrasound. Taken together, our study showed a high rate of detectable genetic etiologies in cases with fetal HEK at the levels of chromosomal (aneuploidy), sub-chromosomal (microdeletions/microduplications), and single gene (point mutations). Therefore, we speculate that combined CMA and ES testing for fetal HEK is feasible and has good clinical utility. When no genetic abnormalities are identified, the findings can be transient, especially in the isolated HEK group. [ABSTRACT FROM AUTHOR]

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

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

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

Background: In terms of embryonic origin, vascular ring is a congenital anomaly in which the aortic arch and its branches completely or incompletely encircle and compress the trachea or esophagus. Early and accurate diagnosis of a vascular ring is the key to treatment. Prenatal diagnosis mainly relies on fetal echocardiography, but the rate of missed diagnosis and misdiagnosis is still very high, and the prognosis has not been evaluated. The aim of this study was to investigate the accuracy of prenatal diagnosis and to evaluate the prognosis semi-quantitatively according to the shape of the ring and the distance between the vessel and the trachea. Methods: From 2019 to 2021, 37,875 fetuses underwent prenatal ultrasound examination in our center. All fetal cardiac examinations were performed using the fetal echocardiography method proposed by the American Institute of Ultrasound in Medicine (AIUM) combined with dynamic sequential cross-sectional observation (SCS). For SCS, the standard abdominal section was taken as the initial section, and the probe was moved cephalically along the long axis of the body until the superior mediastinum had disappeared. If a vascular ring was found, the shape of the ring and the distance of the branch to the airway were observed. The distance relationship with the airway was divided into three grades: I-III; the closer the distance, the lower the grade. The vascular rings were monitored every 4 weeks before birth. All were monitored before surgery or 1 year after birth. Results: A total of 418 cases of vascular rings were detected. There was no missed diagnoses or misdiagnoses by SCS. The vessels formed different shaped rings according to their origin and route. Grade I, "入" and "O" rings have a poor prognosis and are associated with the highest risk of respiratory symptoms. Conclusions: SCS can accurately diagnose vascular rings before delivery, evaluate the shape and size of the rings to conduct prenatal monitoring of children until birth, which plays a guiding role in airway compression after birth. [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]

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

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