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Objectives: To assess the diagnostic accuracy of two‐dimensional ultrasound at 11–14 weeks' gestation as a screening test for individual fetal anomalies and to identify factors impacting on screening performance. Methods: This was a systematic review and meta‐analysis that was developed and registered with PROSPERO (CRD42018111781). MEDLINE, EMBASE, Web of Science Core Collection and the Cochrane Library were searched for studies evaluating the diagnostic accuracy of screening for 16 predefined, non‐cardiac, congenital anomalies considered to be of interest to the early anomaly scan. We included prospective and retrospective studies from any healthcare setting conducted in low‐risk, mixed‐risk and unselected populations. The reference standard was the detection of an anomaly on postnatal or postmortem examination. Data were extracted to populate 2 × 2 tables and a random‐effects model was used to determine the diagnostic accuracy of screening for the predefined anomalies (individually and as a composite). Secondary analyses were performed to determine the impact on detection rates of imaging protocol, type of ultrasound modality, publication year and index of sonographer suspicion at the time of scanning. Post‐hoc secondary analysis was conducted to assess performance among studies published during or after 2010. Risk of bias assessment and quality assessment were undertaken for included studies using the Quality Assessment of Diagnostic Accuracy Studies‐2 tool. Results: From 5684 citations, 202 papers underwent full‐text review, resulting in the inclusion of 52 studies comprising 527 837 fetuses, of which 2399 were affected by one or more of the 16 predefined anomalies. Individual anomalies were not equally amenable to detection on first‐trimester ultrasound: a high (> 80%) detection rate was reported for severe conditions, including acrania (98%), gastroschisis (96%), exomphalos (95%) and holoprosencephaly (88%); the detection rate was lower for open spina bifida (69%), lower urinary tract obstruction (66%), lethal skeletal dysplasias (57%) and limb‐reduction defects (50%); and the detection rate was below 50% for facial clefts (43%), polydactyly (40%) and congenital diaphragmatic hernia (38%). Conditions with a low (< 30%) detection rate included bilateral renal agenesis (25%), closed spina bifida (21%), isolated cleft lip (14%) and talipes (11%). Specificity was > 99% for all anomalies. Secondary analysis showed that detection improved with advancing publication year, and that the use of imaging protocols had a statistically significant impact on screening performance (P < 0.0001). Conclusions: The accurate detection of congenital anomalies using first‐trimester ultrasound is feasible, although detection rates and false‐positive rates depend on the type of anomaly. The use of a standardized protocol allows for diagnostic performance to be maximized, particularly for the detection of spina bifida, facial clefts and limb‐reduction defects. Highlighting the types of anomalies amenable to diagnosis and determining factors enhancing screening performance can support the development of first‐trimester anomaly screening programs. © 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]

This article, published in the journal Ultrasound in Obstetrics & Gynecology, presents a rare case of antenatal screening for diastematomyelia using ultrasound and MRI. Diastematomyelia is a condition characterized by the division of the spinal cord, and it can be diagnosed prenatally through the use of these imaging techniques. The case report describes a patient who had an initial ultrasound at 12 weeks, which revealed a nuchal translucency measurement within the normal range. However, at a later ultrasound examination, abnormalities associated with diastematomyelia were observed, and fetal MRI confirmed the presence of these lesions. The article concludes that prenatal evaluation can help inform obstetric decisions by distinguishing between favorable and unfavorable prognoses. [Extracted from the article]

This article discusses the prenatal diagnosis of uterus didelphys, a condition characterized by the duplication of the corpus and cervix due to failed Müllerian duct fusion. Approximately 15-20% of patients with uterus didelphys experience genital tract obstruction, which can lead to complications such as hematometrocolpos, pyometrocolpos, and endometriosis. The diagnosis of this condition is often delayed due to the presence of menses from the unobstructed vagina and uterus. The article presents two cases of uterus didelphys without hydrocolpos and provides sonographic images of the fetal uterus in affected cases compared to a normal case. The authors emphasize the importance of early diagnosis and treatment to prevent complications and maintain reproductive potential. They also suggest that further studies are needed to determine the diagnostic accuracy and utility of fetal uterine assessment in identifying uterus didelphys. [Extracted from the article]

This article, titled "EP09.114: Prenatal ultrasound diagnosis and prognosis analysis of fetal left heart dysplasia syndrome," explores the prenatal ultrasound characteristics of fetal left heart dysplasia syndrome (HLHS) and analyzes the pregnancy outcomes. The study retrospectively analyzed ultrasound and clinical data from 37 cases of fetal HLHS and tracked the pregnancy outcomes. The ultrasound characteristics of HLHS included a small left ventricle, limited or no movement of mitral and aortic valves, and reverse blood flow in the aortic arch. The study found that HLHS had poor pregnancy outcomes, and accurate ultrasound assessment is crucial for prenatal consultation and decision-making. [Extracted from the article]

This article, titled "Antenatal diagnosis of fetal limb abnormalities," discusses the importance of ultrasound in diagnosing fetal limb abnormalities during pregnancy. The study involved scanning the limbs of fetuses in 14,894 pregnant women at a hospital from January 2022 to December 2022. Out of these cases, ten fetuses were found to have limb abnormalities, including club feet, thanatophoric dwarfism type I, achondroplasia, Sironomelia, and fetal akinesia sequence. Amniocentesis was performed in five pregnancies, leading to the diagnosis of two cases of trisomy 18 and three cases with normal genetic results. The findings from antenatal ultrasound were confirmed through fetopathological examination in all cases. The study concludes that ultrasound evaluation is crucial for the early detection and diagnosis of fetal limb abnormalities. [Extracted from the article]

This article, titled "EP07.30: A case of patent urachus prenatal diagnosis by ultrasonography and fetal MRI," discusses a rare congenital anomaly called patent urachus. Patent urachus occurs when the embryologic tissues that connect the developing bladder to the umbilical cord fail to involute properly. Accurate diagnosis of this condition is crucial as it is often associated with other complications such as omphalocele, urinary tract obstruction, and urachal anomalies. The article presents a case study of a 24-year-old woman who was diagnosed with patent urachus prenatally and underwent surgical treatment after giving birth. The incidence of urachal anomalies is difficult to determine due to asymptomatic or undiagnosed cases, but the long-term prognosis for patients is generally excellent. [Extracted from the article]

This article discusses a case study of a rare condition called agnathia, which causes the absence of one or both jaws. The case involves a 32-year-old woman who experienced secondary infertility and was found to have an abnormal fetal ultrasound showing a hypoplastic or possibly absent mandible. Further testing confirmed the diagnosis of agnathia-otocephaly complex, a severe malformation characterized by agnathia, melotia, and microstomia with aglossia. The cause of agnathia is not well understood, but it is believed to involve both genetic and teratogenic factors. Genetic testing can provide further insight for counseling future pregnancies. [Extracted from the article]

This article, titled "A comparative study of prenatal ultrasound diagnosis and postnatal pathology of fetal pulmonary dysplasia," explores the clinical value of prenatal ultrasound in diagnosing abnormal fetal lung development. The study conducted a retrospective analysis on 78 cases of fetal lung dysplasia and compared the prenatal ultrasound diagnosis results with postoperative pathological findings. The results showed that prenatal ultrasound had a high accuracy rate of 94.8% in diagnosing abnormalities of fetal lung development. However, there were difficulties in diagnosing certain malformations and compound malformations. [Extracted from the article]

This article discusses the current status and challenges in the prenatal diagnosis of cleft lip and palate (CLP) at Kanagawa Children's Medical Center in Japan. Despite prenatal ultrasound screenings during maternal check-ups, CLP is often detected postnatally. The study examines the referral rates for CLP during the fetal period to the medical center and evaluates the diagnostic rate and classification accuracy of CLP during fetal ultrasound. The results show that the accuracy of fetal diagnosis of CLP remains low, particularly in determining the presence of cleft alveolus and cleft palate. Improving the accuracy of prenatal diagnosis is identified as a future challenge. [Extracted from the article]

This article explores the use of prenatal ultrasound in diagnosing biliary atresia (BA) and analyzing its prognostic implications. The study included 45,020 cases, with 359 cases suspected to have biliary abnormalities. Postpartum diagnosis confirmed BA in 14 cases, with significant differences observed in cyst size, shape, cystic changes, and gallbladder morphology between BA and biliary dilatation groups. The prognosis for biliary atresia splenic malformation syndrome was generally unfavorable, while those undergoing surgery had favorable outcomes. The study provides valuable information for clinical decision-making regarding BA. [Extracted from the article]

This article discusses the use of Magnetic Resonance Imaging (MRI) in diagnosing fetal central nervous system (CNS) anomalies, in addition to antenatal ultrasound. The study involved 40 fetuses with suspected or diagnosed CNS anomalies, and the MRI was conducted using a 1.5-T magnet. The results showed that MRI confirmed the ultrasound findings in most cases, but also provided additional information or changed the diagnosis in some cases. The overall diagnostic accuracy of ultrasound was 98.8%, while MRI had a diagnostic accuracy of 99.6%. The article concludes that while ultrasound is the main method for prenatal diagnosis, MRI can be a valuable complement in cases where ultrasound is inconclusive or difficult to interpret. [Extracted from the article]

This article, titled "EP01.21: Performance evaluation study of an artificial intelligence-based support system for fetal cardiac ultrasound screening," discusses the evaluation of an artificial intelligence (AI) system designed to assist in fetal cardiac ultrasound screening. The study enrolled 259 normal cases and 117 cases of congenital heart disease (CHD) in the second trimester. The AI system demonstrated high sensitivity and specificity in detecting normal substructures, and its combined use with unskilled doctors improved their screening performance. This research suggests that AI-based support systems can enhance the accuracy of fetal cardiac ultrasound screening. [Extracted from the article]