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Objective: Unusual clinical course. Background: Rapidly involuting congenital hemangioma (RICH) of the fetal skull is an extremely rare vascular disease which undergoes proliferation only in utero and progresses with maximal size at birth. RICH can be detected by prenatal imaging but is easily misdiagnose. Case Report: A 28-year-old nulliparous woman was referred at 38 weeks of gestation for routine screening with obstetric ultrasonography. The ultrasonography revealed a female fetus with a previously undetected head tumor (32×22 mm). Certain unusual sonographic features were observed: the lesion was fusiform, with a wide base adjacent to the frontal bone. Tumor growth appeared to be toward the brain parenchyma rather than outwards (ie, toward the skull), which suggested that the mass may have been derived from the skull. The mass may have remained undiagnosed due to its small size or due to the superimposition of the skull in poor quality ultrasound images. On the basis of ultrasound findings, the lesion was diagnosed as an intracranial tumor, but fetal MRI findings led to the suspicion of RICH of the fetal skull. Finally, the patient was followed up until 1 year after birth, by which time the lesion had completely disappeared. Conclusions: Careful evaluation of prenatal ultrasound is necessary to ensure detection of any mass adjacent to the skull, and the ultrasonography technician should carefully examine the features of any suspected mass to diagnose it correctly to avoid affecting the treatment strategy. [ABSTRACT FROM AUTHOR]

Background: Noninvasive prenatal testing (NIPT) is widely used to screen for fetal aneuploidies. However, there are few reports of using NIPT for screening chromosomal microduplications and microdeletions. This study aimed to investigate the application efficiency of NIPT for detecting chromosomal microduplications. Methods: Four cases of copy number gains on the long arm of chromosome 17 (17q12) were detected using NIPT and further confirmed using copy number variation (CNV) analysis based on chromosome microarray analysis (CMA). Results: The prenatal diagnosis CMA results of the three cases showed that the microduplications in 17q12 (ranging from 1.5 to 1.9 Mb) were consistent with the NIPT results. The karyotypic analysis excluded other possible unbalanced rearrangements. The positive predictive value of NIPT for detecting chromosomal 17q12 microduplication was 75.0%. Conclusions: NIPT has a good screening effect on 17q12 syndrome through prenatal diagnosis, therefore it could be considered for screening fetal CNV during the second trimester. With the clinical application of NIPT, invasive prenatal diagnoses could be effectively reduced while also improving the detection rate of fetal CNV. [ABSTRACT FROM AUTHOR]

Deep learning algorithms have demonstrated remarkable potential in clinical diagnostics, particularly in the field of medical imaging. In this study, we investigated the application of deep learning models in early detection of fetal kidney anomalies. To provide an enhanced interpretation of those models' predictions, we proposed an adapted two-class representation and developed a multi-class model interpretation approach for problems with more than two labels and variable hierarchical grouping of labels. Additionally, we employed the explainable AI (XAI) visualization tools Grad-CAM and HiResCAM, to gain insights into model predictions and identify reasons for misclassifications. The study dataset consisted of 969 ultrasound images from unique patients; 646 control images and 323 cases of kidney anomalies, including 259 cases of unilateral urinary tract dilation and 64 cases of unilateral multicystic dysplastic kidney. The best performing model achieved a cross-validated area under the ROC curve of 91.28% ± 0.52%, with an overall accuracy of 84.03% ± 0.76%, sensitivity of 77.39% ± 1.99%, and specificity of 87.35% ± 1.28%. Our findings emphasize the potential of deep learning models in predicting kidney anomalies from limited prenatal ultrasound imagery. The proposed adaptations in model representation and interpretation represent a novel solution to multi-class prediction problems. [ABSTRACT FROM AUTHOR]

Large-scale copy number variants (CNVs) are structural alterations in the genome that involve the duplication or deletion of DNA segments, contributing to genetic diversity and playing a crucial role in the evolution and development of various diseases and disorders, as they can lead to the dosage imbalance of one or more genes. Massively parallel sequencing (MPS) has revolutionized the field of genetic analysis and contributed significantly to routine clinical diagnosis and screening. It offers a precise method for detecting CNVs with exceptional accuracy. In this context, a non-invasive prenatal test (NIPT) based on the sequencing of cell-free DNA (cfDNA) from pregnant women's plasma using a low-coverage whole genome MPS (WGS) approach represents a valuable source for population studies. Here, we analyzed genomic data of 12,732 pregnant women from the Slovak (9,230), Czech (1,583), and Hungarian (1,919) populations. We identified 5,062 CNVs ranging from 200 kbp and described their basic characteristics and differences between the subject populations. Our results suggest that re-analysis of sequencing data from routine WGS assays has the potential to obtain large-scale CNV population frequencies, which are not well known and may provide valuable information to support the classification and interpretation of this type of genetic variation. Furthermore, this could contribute to expanding knowledge about the central European genome without investing in additional laboratory work, as NIPTs are a relatively widely used screening method. [ABSTRACT FROM AUTHOR]

18p deletion syndrome constitutes one of the most frequent autosomal terminal deletion syndromes, affecting one in 50,000 live births. The syndrome has un-specific clinical features which vary significantly between patients and may overlap with other genetic conditions. Its prenatal description is extremely rare as the fetal phenotype is often not present during pregnancy. Trisomy 8p Syndrome is characterized by heterogenous phenotype, with the most frequent components to be cardiac malformation, developmental and intellectual delay. Its prenatal diagnosis is very rare due to the unspecific sonographic features of the affected fetuses. We present a very rare case of a fetus with multiple anomalies diagnosed during the second trimester whose genomic analysis revealed a 18p Deletion and 8p trisomy Syndrome. This is the first case where this combination of DNA mutations has been described prenatally and the second case in general. The presentation of this case, as well as the detailed review of all described cases, aim to expand the existing knowledge regarding this rare condition facilitating its diagnosis in the future. [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]

Background: Maldevelopment of the fetal bowel can result in the rare condition of intestinal atresia, which results in congenital bowel obstruction. This report describes a case of prenatal diagnosis of fetal ileal atresia at 22 weeks' gestation. Case Report: Here, we present a 24-year old woman who was 22 weeks into her first pregnancy when she underwent routine fetal ultrasound. She was diagnosed with gestational diabetes mellitus. Her body mass index was normal and she had normal weight gain. The ultrasonographic examination performed revealed a hyperechoic bowel and a small dilatation of the bowel. The couple was counselled for possible intestinal atresia and its postnatal implications. At 33 weeks of gestation, polyhydramnios appeared, and the intestinal distension was much more pronounced, with hyperechoic debris in the intestinal lumen (succus-entericus). After birth, surgery was performed and we concluded the patient had type II atresia, which was surgically treated. Conclusions: This report has highlighted the importance of antenatal ultrasound in detecting fetal abnormalities, and has shown that rare conditions such as intestinal atresia can be accurately diagnosed and successfully managed. Surgical correction, if implemented promptly after stabilizing the general condition, can have a relatively good prognosis. Coexisting fetal ileal atresia and gestational diabetes mellitus are rare occurrences, which can make each condition even more difficult to treat. [ABSTRACT FROM AUTHOR]

Objective Methods Results Conclusion To identify whether conventional methods of estimating fetal growth (Hadlock's formula), which relies heavily on abdominal circumference measurements, are accurate in fetuses with gastroschisis.A retrospective cohort study was performed between the period January 1, 2011 and December 31, 2021 in a tertiary referral maternity hospital identifying all pregnancies with a diagnosis of gastroschisis. Projected fetal weight was obtained using the formula (EFW [Hadlock's formula] + 185 g × [X/7]) where X was the number of days to delivery.During the study period 41 cases were identified. The median maternal age was 25. The median BMI was 25 and 63% were primiparous women (n = 26). Median gestation at diagnosis was 21 weeks. Median gestation at delivery was 36 weeks. A total of 4.8% of mothers had a history of drug use (n = 2). The rate of maternal tobacco use was 21.9% (n = 9). A total of 4.8% of fetuses had additional congenital anomalies including amniotic band syndrome and myelomeningocele (n = 2).Estimated fetal weight (EFW) and birth weight data were available for 34 cases. A Wilcoxon signed‐rank test showed projected EFW using Hadlock's formula did not result in a statistically significant different birth weight (Z = −1.3, P = 0.169). Median projected weight and actual birth weight were 2241.35 and 2415 g respectively. Median difference was 0.64 g (95% CI: −148 to −28.5).Our data showed accuracy using standard formulae for EFW in fetuses with gastroschisis. [ABSTRACT FROM AUTHOR]

Cervical and oropharyngeal teratomas are rare forms of congenital tumors. External compression of the respiratory tract is the major complication. Due to their high mortality, it is very important to establish prenatal diagnosis using ultrasound and fetal magnetic resonance imaging to plan airway management at birth and its eventual resection. If respiratory obstruction due to the tumor is suspected, an EXIT procedure is performed. We describe a case of a cervical teratoma and another of an oropharyngeal teratoma, along with their imaging studio and a literature review. [ABSTRACT FROM AUTHOR]

Background: Despite recent advances in prenatal genetic diagnosis, medical geneticists still face considerable difficulty in interpreting the clinical outcome of copy‐number‐variant duplications and defining the mechanisms underlying the formation of certain chromosomal rearrangements. Optical genome mapping (OGM) is an emerging cytogenomic tool with proved ability to identify the full spectrum of cytogenetic aberrations. Methods: Here, we report on the use of OGM in a prenatal diagnosis setting. Detailed breakpoint mapping was used to determine the relative orientations of triplicated and duplicated segments in two unrelated foetuses harbouring chromosomal aberrations: a de novo 15q23q24.2 triplication and a paternally inherited 13q14.2 duplication that overlapped partially with the RB1 gene. Results: OGM enabled us to suggest a plausible mechanism for the triplication and confirmed that the RB1 duplication was direct oriented and in tandem. This enabled us to predict the pathogenic consequences, refine the prognosis and adapt the follow‐up and familial screening appropriately. Conclusion: Along with an increase in diagnostic rates, OGM can rapidly highlight genotype–phenotype correlations, improve genetic counselling and significantly influence prenatal management. [ABSTRACT FROM AUTHOR]

Background: To explore the clinical application value of pre‐conception expanded carrier screening (PECS) in the Chinese Han ethnicity population of childbearing age. Methods: The results of genetic testing of infertile parents who underwent PECS in the Reproductive Medicine Center of the Second Affiliated Hospital of Zhengzhou University, China, from September 2019 to December 2021, were retrospectively analyzed. The carrier rate of single gene disease, the detection rate of high‐risk parents, and the clinical outcome of high‐risk parents were statistically analyzed. Results: A total of 1372 Chinese Han ethnicity patients underwent PECS, among which 458 patients underwent the extended 108‐gene test, their overall carrier rate was 31.7%, and the detection rate of high‐risk parents was 0.3%. The highest carrier rates were SLC22A (2.4%), ATP7B (2.4%), MMACHC (2.2%), PAH (1.8%), GALC (1.8%), MLC1 (1.3%), UNC13D (1.1%), CAPN3 (1.1%), and PKHD1 (1.1%). There were 488 women with fragile X syndrome—FMR1 gene detection, and 6 patients (1.2%) had FMR1 gene mutation. A total of 426 patients were screened for spinal muscular atrophy—SMN1, and the carrier rate was 3.5%, and the detection rate of parents' co‐carrier was 0.5%. Conclusion: Monogenic recessive hereditary diseases had a high carrier rate in the population. Pre‐pregnancy screening could provide good prenatal and postnatal care guidance for patients and preimplantation genetic testing for monogenic/single gene disorders (PGT‐M) and prenatal diagnosis could provide more precise reproductive choices for high‐risk parents. [ABSTRACT FROM AUTHOR]

Abdominal compartment syndrome (ACS) is a rare complication of extracorporeal membrane oxygenation (ECMO) and is associated with high morbidity and mortality. Despite being the treatment of choice for ACS, decompressive laparotomy (DL) has been a matter of debate in children supported with ECMO due to high bleeding risk and presumed futility. We report the first neonatal DL for ACS while on ECMO following congenital diaphragmatic hernia (CDH) repair. Given its excellent outcomes, our case challenges current literature and supports prompt bedside laparotomy to treat ACS on neonatal ECMO. [ABSTRACT FROM AUTHOR]

Key Clinical Message: An encephalocele is a congenital malformation characterized by protrusion of the intracranial contents through a cranial defect. We report that a fetus of a pregnant mother who had two consecutive pregnancies with ultrasound‐detected encephalocele carried compound heterozygous variants in B3GALNT2 NM_152490.5:c.[1423C > T (p.Gln475Ter)]; [261‐2A > G] of maternal and paternal origins, respectively, as confirmed by exome sequencing followed by Sanger sequencing validation. The present case implies that mutations in B3GALNT2, a well‐known dystroglycanopathy causative gene, may result in a phenotype of neural tube defect, providing new insights into the clinical spectrum of B3GALNT2‐related disorders. Our study may contribute to prenatal screening/diagnosis and genetic counseling of congenital brain malformations. [ABSTRACT FROM AUTHOR]

Background: The objective of our study to analyze the data of the prenatal diagnosis of congenital malformations at the maternity and reproductive health hospital "Les Orangers" in Rabat and to identify the main anomalies detected, their percentage and their short-term outcome. Methods: This is a cross-sectional study conducted at the maternity and reproductive health hospital "Les Orangers" in Rabat, Morocco. The data was collected and reported on pre-established sheets and on the register of malformations of the hospital. Results: A total of 245 cases of congenital malformations comprising 470 types of congenital malformations were recorded out of a total of 43,923 births over a period of five and a half years, giving a prevalence of 5.58 per thousand. Prenatal diagnosis was made in a third of cases (33%), essentially during the 2nd-3rd trimester of pregnancy. The anomalies revealed by this antenatal diagnosis were dominated by urinary malformations in 70% and central nervous system anomalies in 67%, followed by other types of congenital anomalies in less than 40% of cases, while genetic problems were detected in 2.5%; this rate is underestimated since chromosomal abnormalities sometimes appear as syndromes, so that in some diseases, genetic changes are not separated from other abnormalities, and since more than half (50.7%) of cases presenting polymalformative syndromes not survived 77% of cases i.e. (48.5% of deaths and 28.5% of FDIU) and an etiological study was not carried out. Conclusion: Antenatal ultrasound allows early detection and monitoring of the evolution of congenital malformations, and thus the possibility of ensuring early and adequate management of these anomalies from birth. In our context, it is necessary to develop a prenatal screening program for congenital anomalies and a network of reference centers for the management of these anomalies in order to improve their prognosis. [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]

To report the prevalence of coarctation of the aorta (CoA) in fetuses with single left superior vena cava (SL-SVC) and to evaluate changes in echocardiographic measurements. Additionally, to report the prevalence of associated malformations. Retrospective observational study of fetuses diagnosed with SL-SVC between 2012 and 2021 at a tertiary fetal cardiology unit. In fetuses without intracardiac abnormalities, Z-scores of the ventricles, great arteries, and Doppler flow patterns are reported. We identified 47 fetuses with SL-SVC of which 8/47 (17%) had abnormal intracardiac anatomy. One fetus was lost to follow-up. Of those with normal intracardiac anatomy and postnatal follow-up (38), karyotype abnormalities were confirmed in 2/38 (5%) and ECA in 8/38 (21%). 33/38 were live-born. None developed CoA postnatally. Paired analysis of Z-scores between early and late scans of 24 fetuses showed that diameters of the right heart structures and Doppler flows of tricuspid valve increased significantly during pregnancy, while the left heart structures and flow patterns did not change. The median risk of CoA did not change between the early and the late scan. We did not observe CoA in this cohort. A degree of ventricular asymmetry was present, but this was due to right heart dominance rather than hypoplasia of left heart structures. This likely reflects redistribution of blood and does not appear to confer increased risk of CoA. Predictive models of the postnatal development of CoA which set the dimensions of right and left heart structures in relation might not be applicable in this situation. [ABSTRACT FROM AUTHOR]

Background: Accurate prenatal diagnosis of cleft lip and palate is essential to discuss severity prediction, perform appropriate parental counseling, and, at last, establish long-term treatment planning. The aim of this systematic review was to analyze the accuracy of various imaging techniques for the prenatal diagnosis of cleft lip and palate, assess the pregnancy phase for orofacial clefts diagnosis, and study the different cleft types in terms of diagnostic methods, timing, and predictability. Methods: A search of the PubMed, EMBASE, Scopus, and Web of Science databases was conducted to identify potentially relevant studies published until January 2024. The quality of the selected articles was assessed using the Newcastle–Ottawa scale for methodological quality assessment of cohort studies and the QUADAS-2 scale for diagnostic test studies. Results: A total of 18 studies met the eligibility criteria and were included in the review. The findings of this review indicate that the majority of studies showed improved diagnostic accuracy when supplementary techniques, such as 3D ultrasound or magnetic resonance imaging, were added to 2D ultrasound. Conclusions: The implementation of magnetic resonance imaging as a standard procedure could significantly improve the precision of diagnosing cleft lip and palate. Therefore, the diagnostic technique used will play a crucial role in the accuracy of the diagnosis. [ABSTRACT FROM AUTHOR]

Background: Contemporary diagnostic methods aimed at assessing neonatal outcomes predominantly rely on the medical history of pregnant women. Ideally, universal biomarkers indicating an increased risk of delivering infants in poor clinical condition, with a heightened likelihood of requiring hospitalization in a Neonatal Intensive Care Unit (NICU), would be beneficial for appropriately stratifying pregnant women into a high-risk category. Our study evaluated whether biochemical and ultrasonographical markers universally used in first-trimester screenings for non-heritable chromosomal aberrations could serve this purpose. Methods: This study encompassed 1164 patients who underwent first-trimester screening, including patient history, ultrasound examinations, and biochemical tests for pregnancy-associated plasma protein-A (PAPP-A) and the free beta-HCG subunit (fbHCG), from January 2019 to December 2021. The research concentrated on the correlation between these prenatal test results and neonatal outcomes, particularly Apgar scores, umbilical blood pH levels, and the necessity for NICU admission. Results: In our cohort, neonates scoring lower than 8 on the Apgar scale at birth exhibited lower concentrations of PAPP-A in the first trimester, both in raw and normalized values (PAPP-A MoM 0.93 vs. 1.027, p = 0.032). We also observed a higher pulsatility index in the venous duct in the first trimester in full-term neonates born with <8 points on the Apgar scale. Additionally, newborns born with an umbilical blood pH < 7.2 had lower normalized first-trimester PAPP-A concentrations (0.69 vs. 1.01 MoM, p = 0.04). We also noted that neonates requiring NICU hospitalization post-delivery had lower first-trimester bHCG concentrations (0.93 MoM vs. 1.11 MoM, p = 0.03). However, none of the correlations in our study translated into a robust prognostic ability for predicting dichotomous outcomes. All areas under the curve achieved a value < 0.7. Conclusions: Low concentrations of PAPP-A and free bHCG subunit in the first trimester may be associated with poorer clinical and biochemical conditions in neonates post-delivery. However, the relationship is weak and has limited predictive capability. Further research evaluating these relationships is necessary for the appropriate stratification of pregnant women into high-risk categories for neonatological complications. [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]

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]

There is some evidence that in twin reversed arterial perfusion sequence, intervention at early gestational age could prevent a spontaneous death of the pump twin, achieving a better global survival. To review the perinatal outcomes of early intervention in pregnancies complicated by twin reversed arterial perfusion (TRAP) sequence. A comprehensive search from inception to December 2022 was conducted on databases including MEDLINE, EMBASE, Cochrane Library and LILACS. All studies that reported intervention in twin or triplet pregnancy complicated with TRAP sequence at 12 + 0 to 16 + 6 weeks of gestation were eligible. A descriptive and bivariate analysis was performed. Out of the 222 full-text articles, 44 studies reporting 108 cases of early intervention in TRAP sequence were included. A successful procedure was achieved in 105 (95.5 %) interventions: 89 (94.7 %) among twin pregnancies and 16(100 %) among triplet pregnancies. An overall livebirth rate was achieved in 75 patients (70.8 %): intrafetal laser group 55 (73.3 %), radiofrequency 10 (76.9 %) and endoscopic laser 3 (75.0 %). The median gestational age at delivery was 38 + 0 (37 + 4 – 39 + 4) weeks. The median treatment–delivery interval was 23 + 2 (IQR, 21 + 0–25 + 6) weeks. The most frequent adverse outcomes reported were preterm labor in 7 (13.7 %) patients. There were no severe adverse maternal outcomes. Early intervention with intrafetal laser and radiofrequency in TRAP sequence achieves a livebirth rate of the pump twin of about 75 %. [ABSTRACT FROM AUTHOR]

• The risk of vertical transmission is higher in primary compared to non-primary infection, but there are no differences in terms of long-term sequelae once congenital infection has been established. • Ultrasound is the primary imaging modality to evaluate fetuses with congenital CMV infection. However, the positive predictive value of ultrasound is poor in the absence of confirmed fetal infection with amniocentesis. • MRI should be used to detect anomalies not easily identified by ultrasound and should be recommended in all pregnant women with positive amniocentesis at 28–32 weeks of gestation. • Early gestational age at maternal infection is one of the main determinants of post-natal adverse outcome in fetuses with congenital CMV infection. • Maternal therapy with high dose valacyclovir (2 g every 6 h, 8 g/day) can reduce the risk of vertical transmission, the symptomatic status and other adverse outcomes associated with congenital CMV infection, while HIG is not recommended. Although the clinical work-up of CMV in pregnancy has gradually become more accurate, counseling for CMV is still challenging. Despite the potential feasibility of universal prenatal serological screening, its introduction in prenatal diagnosis continues to raise concerns related to its real cost-effectiveness. Contextually, anticipating the confirmation of fetal infection earlier in pregnancy is one of the most pressing issues to reduce the parental psychological burden. Amniocentesis is still the gold standard and recent data have demonstrated that it could be performed before 20 weeks of gestation, provided that at least 8 weeks have elapsed from the presumed date of maternal seroconversion. New approaches, such as chorionic villus sampling (CVS) and virome DNA, even if not yet validated as confirmation of fetal infection, have been studied alternatively to amniocentesis to reduce the time-interval from maternal seroconversion and the amniocentesis results. Risk stratification for sensorineural hearing loss (SNHL) and long-term sequelae should be provided according to the prognostic predictors. Nevertheless, in the era of valacyclovir, maternal high-dose therapy, mainly for first trimester infections, can reduce the risk of vertical transmission and increase the likelihood of asymptomatic newborns, but it is still unclear whether valacyclovir continues to exert a beneficial effect on fetuses with positive amniocentesis. This review provides updated evidence-based key counseling points with GRADE recommendations. [ABSTRACT FROM AUTHOR]

The Congenital Diaphragmatic Hernia Study Group (CDHSG) is an international consortium of medical centers actively collecting and voluntarily contributing data pertaining to live born congenital diaphragmatic hernia (CDH) patients born and/or managed at their institutions. These data are aggregated to construct a comprehensive registry that participating centers can access to address specific clinical inquiries and track patient outcomes. Since its establishment in 1995, 147 centers have taken part in this initiative, including 53 centers from 17 countries outside the United States, with 95 current active centers across the globe. The registry has amassed data on over 14,000 children, resulting in the creation of over 75 manuscripts based on registry data to date. International, multicenter consortia enable health care professionals managing uncommon, complex, and diverse diseases to formulate evidence-based hypotheses and draw meaningful and generalizable conclusions for clinical inquiries. This review will explore the formation and structure of the CDHSG and its registry, outlining their functions, center participation, and the evolution of data collection. Additionally, we will provide an overview of the evidence generated by the CDHSG, with a particular emphasis on contributions post-2014, and look ahead to the future directions the study group will take in addressing CDH. [ABSTRACT FROM AUTHOR]

Adverse prenatal diagnoses, regardless of the women's choice of continuing the pregnancy or terminating it, can impact a women's psychological and psychosocial wellbeing. Supportive interventions during this time are important. However, understanding what is deemed useful and best practice is complex and multifaceted. To understand the need for support during this time, the authors undertook a research study where 12 women were interviewed. The women spoke about feeling pressured by time in making a decision regarding their pregnancy option and having limited psychoeducation and support provided. They also spoke about post-traumatic growth in their grief experience. To assist health professionals, the authors have addressed the following areas in the study's findings and discussion sections: the lack of appropriate information delivery skills of the professionals, the need for an assessment of each woman's unique needs, the need for appropriate referrals to be given, and the need for appropriate follow-ups of the women. The SARF (Skills, Assessment, Referral, and Follow-up) model, presented in this article as a synthesis of this research, has the potential to inform the development of clinical services and social work practice to support women's care following adverse prenatal diagnosis. IMPLICATIONS Psychosocial assessments are vital in providing good quality care to women after a poor prenatal diagnosis. The model can provide guidance to ensure that psychosocial assessments and explorations of values are undertaken before referring women to follow-up services. Given social workers' experience in providing psychosocial assessments and their recommendations, social work clinicians should be utilised in health settings to their full scope of practice. [ABSTRACT FROM AUTHOR]

Spinal dysraphisms are amenable to diagnosis in utero. The prognosis and the neonatal management of these conditions differ significantly depending on their types, mainly on the distinction between open and closed defects. A detailed evaluation not only of the fetal spine, but also of the brain, skull, and lower limbs is essential in allowing for the right diagnosis. In this article, recommendations from the Fetal Task Force of the European Society of Paediatric Radiology (ESPR) and the European Society of Neuroradiology (ESNR) Pediatric Neuroradiology Committee will be presented. The aim of this paper is to review the imaging features of the normal and abnormal fetal spinal cord, to clarify the prenatal classification of congenital spinal cord anomalies and to provide guidance in their reporting. [ABSTRACT FROM AUTHOR]

Background: Congenital toxoplasmosis (CT) can be accompanied by serious organ manifestations, particularly retinochoroiditis, and may occur throughout life. We aimed to monitor long-term ocular prognosis in a large French cohort of patients with CT and its changes over time in the context of mandatory prenatal screening (since 1992) and incidence decrease since 2008. Methods: Patients with CT diagnosed between 1987 and 2021 were prospectively included and followed for up to 35 years. The effect of the period of conception on the risk of first retinochoroiditis has been tested using a flexible extension of the Cox model. Incidence rates of retinochoroiditis were estimated. Results: A total of 646 infected live born children were followed for a median of 12 years (range, 0.5-35); 187 patients (29%) had at least 1 ocular lesion (first at a median age of 5 years; range, 0-26 years) with peaks at 7 and 12 years. Early maternal infection and the presence of nonocular signs at birth were associated with a higher risk of retinochoroiditis, whereas delayed diagnosis of CT (after birth versus before or at birth) was associated with a lower risk (13% decrease for each additional month after birth; P = .01). A period effect for the risk of developing retinochoroiditis in patients born after 2008 was not detected. Conclusions: Despite prenatal screening and prolonged perinatal treatment, retinochoroiditis is not a rare event in French patients with CT and can occur well into adulthood, with peak incidences at 7 and 12 years of age. It rarely causes severe damage but warrants regular follow-up into adulthood. [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: Harlequin ichthyosis (MIM 242500) is a rare autosomal recessive skin disorder caused by a congenital disorder of epidermal keratinization and associated with a mutation in the ABCA12 gene of chromosome 2q35. We report a case of a fetus at 25 weeks of gestation with harlequin ichthyosis and a deletion of chromosome 15q11.2-q12. Case(s): The results of an ultrasound examination at 13 weeks 2 days and 18 weeks of pregnancy showed no pathology. Two previous male children were presumably born with harlequin ichthyosis (genetic diagnosis was not performed due to unavailability at that time) and died on the first day of life. Analysis of amniotic fluid using SNP - array technology at 23 weeks revealed a deletion of 15q11.2-q12. Subsequent ultrasound examination at 25 weeks of pregnancy showed signs of harlequin ichthyosis, including an abnormal flat facial profile, a constantly open large mouth, and a large number of inclusions in the amniotic fluid. Considering the family history, a diagnosis of harlequin ichthyosis was made, leading the family to decide to terminate the pregnancy. A male child was born, weighing 800 g, with a typical harlequin ichthyosis phenotype, and died 2 hours after birth. Conclusion: In case of a suspicion of this disease in a family, prenatal diagnosis of harlequin ichthyosis can be carried out by prenatal chromosomal microarray analysis using tissue obtained from chorionic villus sampling, amniocentesis or cordocentesis in the early terms of pregnancy. Ultrasound signs of the disease typically manifest after 24 weeks of pregnancy. [ABSTRACT FROM AUTHOR]

This study represents our second investigation into NIPT, involving a more extensive patient cohort with a specific emphasis on the high-risk group. The high-risk group was subsequently divided into two further groups to compare confirmed cases versus unconfirmed via direct methods. The methodology encompassed the analysis of 1400 consecutive cases from a single genetic center in western Romania, where NIPT was used to assess the risk of specific fetal chromosomal abnormalities. All high-risk cases underwent validation through direct analysis of fetal cells obtained via invasive methods, including chorionic villus sampling and amniocentesis. The confirmation process utilized QF-PCR, karyotyping, and SNP-Array methods customized to each case. Results: A high risk of aneuploidy at NIPT was identified in 36 out of 1400 (2.57%) cases and confirmed in 28 cases. The study also detected an increased risk for copy number variations (CNVs) in 1% of cases, confirmed in two instances involving one large microdeletion and one large microduplication. Trisomy 21 was the exclusive anomaly where NIPT confirmed all cases with identified risk. High-risk NIPT results which were not validated by invasive methods, were classified as false positives; parents in these cases determined to continue the pregnancy. In conclusion, NIPT can serve as a screening method for all pregnancies; however, in high-risk cases, an invasive confirmation test is strongly recommended. [ABSTRACT FROM AUTHOR]

A single-center retrospective study of G-band karyotyping and chromosomal microarray analysis (CMA) for the invasive prenatal diagnosis of 6159 fetuses with ultrasound abnormalities was conducted. This study aimed to investigate the incidence rates of chromosomal abnormalities and pregnancy outcomes and postpartum clinical manifestations by long-term follow-up and to explore the correlation between different types of prenatal ultrasound abnormalities and pathogenic chromosomal abnormalities. The overall incidence of pathogenic chromosomal aberrations in fetuses with ultrasound abnormalities was 7.58% (467/6159), which comprised 41.7% (195/467) with chromosome number abnormalities, 57.6% (269/467) with pathogenic copy-number variations (pCNVs), and 0.64% (3/467) with uniparental disomy (UPD). In addition, 1.72% (106/6159) with likely pathogenic copy-number variations (lpCNVs) and 3.04% (187/6159) with variants of unknown significance (VOUS) were detected by CMA. Ultrasound abnormalities were categorized into structural anomalies and soft marker anomalies. The incidence rate of pathogenic and likely pathogenic chromosomal abnormalities was significantly higher among fetuses with structural anomalies than soft markers (11.13% vs 7.59%, p < 0.01). We retrospectively analyzed the prenatal genetic outcomes for a large cohort of fetuses with different types of ultrasound abnormalities. The present study showed that the chromosomal abnormality rate and clinical outcomes of fetuses with different types of ultrasound abnormalities varied greatly. Our data have important implications for prenatal genetic counseling for fetuses with different types of ultrasound abnormalities. [ABSTRACT FROM AUTHOR]

Background: Maternal HIV infection remains a significant global health concern with potential repercussions on perinatal outcomes. Emphasis on early intervention to improve peri‐ and postnatal outcomes in infected mothers and infants is a valid therapeutic concern. Objectives: To comprehensively analyze perinatal outcomes associated with maternal HIV infection and evaluate adverse effects associated with the HIV infection in the existing literature. Search Strategy: A comprehensive search of PubMed, MEDLINE, and Google Scholar was conducted from 2013 to September 2023, using relevant MeSH terms. Selection Criteria: The included studies encompassed original studies, cross‐sectional, prospective, retrospective studies and observational studies focused on perinatal outcomes in the context of maternal HIV infection. Data Collection and Analysis: The selected studies underwent rigorous data collection and comprehensive quality checks and adhered to the PRISMA guidelines. Main Results: Nine eligible studies from Brazil, China, India, Malawi, Nigeria, Tanzania, the USA, and Canada were included. These studies have consistently demonstrated that maternal HIV infection is associated with adverse perinatal outcomes. The analysis revealed a higher risk of preterm birth (OR 1.57, 95% CI: 1.39–1.78), low birth weight (OR 1.33, 95% CI: 1.18–1.49), and small for gestational age (OR 1.38, 95% CI: 1.24–1.53) among infants born to mothers living with HIV. Notably, the impact of antiretroviral treatment (ART) on these outcomes varied, but maternal HIV infection remained a significant risk factor regardless of income level and geographic region. Conclusion: Maternal HIV infection is consistently associated with adverse perinatal outcomes, emphasizing the need for targeted interventions and improved prenatal care in pregnant women with HIV infection. Synopsis: Maternal HIV infection is linked to adverse perinatal outcomes such as increased perinatal mortality, preterm birth, and low birth weight. [ABSTRACT FROM AUTHOR]

Objective: Duplex kidney is a relatively frequent form of urinary system abnormality. This study aimed to elucidate the value of chromosomal microarray analysis (CMA) and whole exome sequencing (WES) for duplex kidney and the perinatal outcomes of duplex kidney fetuses. Methods: This retrospective cohort study included 63 patients with duplex kidney diagnosed using antenatal ultrasound between August 2013 and January 2023. We reviewed the clinical characteristics, genetic test results, and pregnancy outcomes of the patients. Results: Among the 63 cases based on the inclusion criteria, the CMA detected seven (11.1%) clinically significant variants and nine variants of uncertain significance (VUS), and the pathogenic/likely pathogenic (P/LP) copy number variations (CNVs) in the recurrent region that were associated with prenatal duplex kidney included 17q12, 17p13.3, and 22q11.2. No significant disparity was observed in the CMA detection rate between the unilateral and bilateral groups, or between the isolated and non‐isolated groups. WES identified three (50%) P/LP single‐gene variants in six fetuses with duplex kidney. We detected the following pathogenic genes in the duplex kidney fetuses: KMT2D, SMPD4, and FANCI. Pregnancy termination in cases where clinically significant variants were detected by genetic testing was different in statistical significance from that in cases with negative results (9/10, 90.0% vs 8/48, 16.7%, P < 0.001). Conclusion: This study elucidated the value of CMA and WES for fetal duplex kidney, proving that CMA and WES may be useful tools in prenatal diagnosis and genetic counseling. Synopsis: For fetal duplex kidney, the chromosomal microarray analysis (CMA) identified seven (11.1%) pCNVs, and the whole exome sequencing (WES) identified three P/LP single gene variants. [ABSTRACT FROM AUTHOR]

This study aimed to explore the genetic causes of agenesis of the corpus callosum (ACC) and assess the utility of karyotype analysis, copy number variation sequencing (CNV-seq), and whole-exome sequencing (WES) to genetically diagnose fetal ACC. We retrospectively examined 40 fetuses diagnosed with ACC who underwent prenatal ultrasonography or magnetic resonance imaging between January 2019 and October 2023. Genetic tests were conducted on the fetuses using karyotype analysis or CNV-seq as the first-line diagnosis. WES was performed if aneuploid and pathogenic CNVs were excluded. Among the 40 fetuses, 29 (72 %) had non-isolated ACC and 11 (28 %) had isolated ACC. Cerebellar dysplasia and hydrocephalus were the most common abnormal developments in the central nervous system. Twenty-eight patients underwent karyotype analysis, with a detection rate of 14 % (4/28). Twenty-six patients underwent CNV-seq; three patients were found to have pathogenic CNVs, with a detection rate of 12 % (3/26). Thirty-three fetuses with no findings of karyotype analysis or CNV-seq were subsequently tested using WES, with a detection rate of 36 % (12/33). Overall, the total diagnostic yield was 48 % (19/40), and monogenic etiology accounted for 30 % (12/40). The genetic detection rate of fetal non-isolated ACC (62 %, 18/29) was higher than that of isolated ACC (9 %, 1/11). Prenatal genetic analysis of fetuses with ACC is clinically significant, with monogenic disorders being the main cause. WES may enhance the detection rate of fetuses with ACC with negative karyotype analysis or CNV-seq results. [ABSTRACT FROM AUTHOR]

Purpose: To compare perinatal outcomes between active and routine management in true knot of the umbilical cord (TKUC). Methods: A retrospective study of singletons born beyond 22 6/7 weeks with TKUC. Active management included weekly fetal heart rate monitoring(FHRM) ≥ 30 weeks and labor induction at 36–37 weeks. Outcomes in active and routine management were compared, including composite asphyxia-related adverse outcome, fetal death, labor induction, Cesarean section (CS) or Instrumental delivery due to non-reassuring fetal heart rate (NRFHR), Apgar5 score < 7, cord Ph < 7, neonatal intensive care unit (NICU) admission and more. Results: The Active (n = 59) and Routine (n = 1091) Management groups demonstrated similar rates of composite asphyxia-related adverse outcome (16.9% vs 16.8%, p = 0.97). Active Management resulted in higher rates of labor induction < 37 weeks (22% vs 1.7%, p < 0.001), CS (37.3% vs 19.2%, p = 0.003) and NICU admissions (13.6% vs 3%, p < 0.001). Fetal death occurred exclusively in the Routine Management group (1.8% vs 0%, p = 0.6). Conclusion: Compared with routine management, weekly FHRM and labor induction between 36 and 37 weeks in TKUC do not appear to reduce neonatal asphyxia. In its current form, active management is associated with higher rates of CS, induced prematurity and NICU admissions. Labor induction before 37 weeks should be avoided. [ABSTRACT FROM AUTHOR]

Purpose: The identification and prognosis of the agenesis of the corpus callosum (ACC) for prenatal consultation are complex and currently unclear. This study aims to explore the correlated genetic mutations of prenatal ACC. Methods: We retrospectively analyzed 114 prenatal cases of ACC. All cases (n = 114) were subjected to chromosomal microarray analysis (CMA), and 66 CMA-negative cases underwent prenatal exome sequencing (pES) for further analysis. Results: CMA was diagnosed positively in 15/114 (13.2%) cases and pES was diagnosed positively in 24/66 (36.4%) CMA-negative cases. The detection rate of genetic causes between complete and partial ACCs was not significantly different (P > 0.05). Between isolated and non-isolated (other anomalies present) ACCs, the diagnostic rate of pES in non-isolated cases was significantly higher (P < 0.001), while CMA results did not differ (P > 0.05). The diagnostic rate of CMA was significantly increased in cases combined with intracranial and extracranial malformations (P = 0.014), while no CMA positivity was detected in cases combined with only intracranial malformations. Conclusion: For fetuses with prenatal ACC, further pES analysis should be recommended after negative CMA results. Chromosome abnormalities are less likely to occur when ACC with only intracranial malformations combined. [ABSTRACT FROM AUTHOR]

Purpose: This study aims to analyze the experience of a tertiary health center about the management of adnexal masses that have been diagnosed during pregnancy or detected accidentally during cesarean delivery. Methods: This is a retrospective review of 160 women who underwent concurrent surgery for adnexal mass during cesarean section, 24 women who delivered vaginally and subsequently had surgery due to the prenatal diagnosis of adnexal mass and 10 women who underwent surgery for adnexal mass during pregnancy. Corresponding to the delivery and surgery times, 200 women who had no diagnosis of pregnancy-associated adnexal mass served as controls. Results: The women in the control group and study groups had statistically similar gestational age at delivery, birth weight and preterm delivery (p > 0.05 for all). Miscarriage was significantly more frequent in women undergoing surgery for adnexal mass during pregnancy (p = 0.001). The women who had surgery for adnexal mass during pregnancy, at the time of cesarean section and following delivery were statistically similar with respect to surgery type and histopathological diagnosis (p > 0.05 for both). Malignancy was detected in none of the patients who underwent surgery for adnexal mass during pregnancy. Acute abdomen was the indication for the emergency surgery in six patients (3.5%) who had surgery for adnexal mass during pregnancy. Four patients (2.4%) had surgery for adnexal mass during pregnancy due to the high index of suspicion for malignancy. Conclusion: The risk of malignancy was relatively lower in this cohort of adnexal masses detected during pregnancy and cesarean delivery. Surgical management of adnexal masses should be postponed to postpartum period as such management leads to an increased risk of miscarriage. Unless there is a need for emergent surgery or cancer staging, vaginal delivery should be encouraged in women diagnosed with adnexal mass during pregnancy. [ABSTRACT FROM AUTHOR]

Introduction: Vasa previa (VP), defined as unprotected fetal vessels traversing the membranes over the cervix, is associated with a high perinatal mortality when undiagnosed prenatally. Conversely, prenatal diagnosis with ultrasound and cesarean delivery before the membranes rupture is associated with excellent outcomes. However, controversy exists regarding screening for VP. In the UK, routine screening for VP is not recommended. The objective of this study was to report the incidence of VP and our experience in the detection of VP with a universal screening protocol at the time of the second‐trimester fetal anomaly scan with third‐trimester confirmation in an unselected population of pregnancies. Material and methods: We performed a single‐center historical cohort study of all pregnant women who underwent routine second‐trimester anomaly screening scans at West Middlesex University Hospital, London, UK, between 2012 and 2016. Over 5 years, every patient undergoing routine anomaly screening was evaluated for VP using a systematic protocol during their 20‐week anomaly scan. Suspected cases of VP were rescanned in the third trimester by specialist sonographers with an interest in VP. The primary outcomes were the incidence and detection of VP. Results: During the study period, 24 690 anatomy scans were performed. A total of 64 patients were identified as having potential VP at the second‐trimester anomaly screening scan, of which 19 were confirmed by the specialist sonographer in the third trimester and at delivery. The screen positive rate was 0.26% (95% confidence interval [CI] 0.20%–0.32%). VP at birth was found in 19/24690 births (1:1299 [95% CI: 1:832–1:2030] births). Universal screening for VP using our protocol had a sensitivity of 100% and a specificity of 99.78% (95% CI: 99.72%–99.84%). The false‐positive rate of the second‐trimester screen was 0.18% (95% CI: 0.13–0.24). There were no false positives or false negatives at delivery. Of the 19 patients with confirmed VP, 17 had scheduled cesarean deliveries, and two required emergency deliveries due to antepartum hemorrhage. One baby died, giving a perinatal mortality of 5%. Conclusions: VP complicates approximately 1:1300 pregnancies. Routine screening for VP yielded a 100% detection rate. We suggest the inclusion of structured VP assessment in standard fetal anomaly screening programs. [ABSTRACT FROM AUTHOR]

Noninvasive prenatal testing (NIPT) has become widely available in recent years. While initially used to screen for trisomies 21, 18, and 13, the test has expanded to include a range of other conditions and will likely expand further. This paper addresses the ethical issues that arise from one particularly controversial potential use of NIPT: screening for adult‐onset conditions (AOCs). We report data from our quantitative survey of Australian NIPT users' views on the ethical issues raised by NIPT for AOCs. The survey ascertained support for NIPT for several traits and conditions including AOCs. Participants were then asked about their level of concern around implications of screening for AOCs for the future child and parent(s). Descriptive and comparative data analyses were conducted. In total, 109 respondents were included in data analysis. The majority of respondents expressed support for NIPT screening for preventable (70.9%) and nonpreventable AOCs (80.8%). Most respondents indicated concern around potential harmful impacts associated with NIPT for AOCs, including the psychological impact on the future child and on the parent(s). Despite this, the majority of participants thought that continuation of a pregnancy known to be predisposed to an AOC is ethically acceptable. The implications of these data are critically discussed and used to inform the normative claim that prospective parents should be given access to NIPT for AOCs. The study contributes to a body of research debating the ethical acceptability and regulation of various applications of NIPT as screening panels expand. [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]

Aim: To examine whether antenatal diagnosis modifies relationships between neonatal brain volumes and 18‐month neurodevelopmental outcomes in children with transposition of the great arteries (TGA). Method: In a retrospective cohort of 139 children with TGA (77 antenatally diagnosed), we obtained total brain volumes (TBVs) on pre‐ (n = 102) and postoperative (n = 112) magnetic resonance imaging. Eighteen‐month neurodevelopmental outcomes were assessed using the Bayley Scales of Infant and Toddler Development, Third Edition. Generalized estimating equations with interaction terms were used to determine whether antenatal diagnosis modified associations between TBVs and neurodevelopmental outcomes accounting for postmenstrual age at scan, brain injury, and ventricular septal defect. Results: Infants with postnatal diagnosis had more preoperative hypotension (35% vs 14%, p = 0.004). The interactions between antenatal diagnosis and TBVs were significantly related to cognitive (p = 0.003) outcomes. Specifically, smaller TBVs were associated with lower cognitive scores in infants diagnosed postnatally; this association was attenuated in those diagnosed antenatally. Interpretation: Antenatal diagnosis modifies associations between neonatal brain volume and 18‐month cognitive outcome in infants with TGA. These findings suggest that antenatal diagnosis may be neuroprotective, possibly through improved preoperative clinical status. These data highlight the need to improve antenatal diagnosis rates. What this paper adds: Antenatal diagnosis of transposition of the great arteries modified relationships between neonatal brain volume and neurodevelopment.Smaller brain volumes related to poorer cognitive scores with postnatal diagnosis only.There was more preoperative hypotension in the postnatal diagnosis group. [ABSTRACT FROM AUTHOR]

Objective: To evaluate whether infants with prenatal diagnosis of meconium peritonitis (MP) have a poorer prognosis. Methods: A retrospective analysis of data from infants treated with surgery from January 2008 to December 2020 was conducted. The patients were divided into prenatal diagnosis group and postnatal diagnosis group based on the timing of diagnosis. The intraoperative and postoperative parameters of the two groups of patients were compared. Results: A total of 71 cases of MP were included in the study, with 48 cases in the prenatal diagnosis group and 23 cases in the postnatal diagnosis group. The comparison of preoperative indicators between the two groups of patients showed no statistically significant differences in baseline (p > 0.05). Intraoperative indicators, including blood loss, anastomosis, retained intestinal tube length and excised intestinal tube length, showed no statistically significant differences between the two groups (p > 0.05). However, the postnatal diagnosis group had a significantly shorter operation time than the prenatal diagnosis group (p < 0.05). Postoperative indicators, including fasting time, albumin usage, complications, and abandonment or mortality rates, show no difference (p > 0.05). Nevertheless, the postnatal diagnosis group exhibited significantly shorter hospital stay and time to first bowel movement compared to the prenatal diagnosis group (p < 0.05). Conclusion: Prenatal diagnosis of meconium peritonitis is associated with increased surgical complexity, prolonged hospital stay, and delayed recovery of intestinal function. However, there is no evidence of higher mortality or more complications compared to infants diagnosed postnatally, and there is no significant difference in long-term prognosis. [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]

Objective This study aimed to assess factors that influence patients' decisions in accepting prenatal diagnostic testing following genetic counseling for increased risk of fetal aneuploidy. Methods This is a retrospective cohort study of women at increased risk of fetal aneuploidy and genetic disorders who had genetic counseling from January 2012 to December 2016 at a single academic center. Demographics, indications for genetic counseling, and rates of diagnostic testing were collected and compared between those who accepted diagnostic testing and those who chose cell free DNA. The variables were analyzed using Chi-square, Fisher's exact test, and multiple logistic regression. Result Of the 2,373 pregnant women who underwent genetic counseling for increased risk of fetal aneuploidy and genetic disorders during the study period, 321 women had diagnostic testing (13.5%). Women at 35 years and older accepted diagnostic testing more than women younger than 35 years (20.7 vs. 11.5%, p < 0.001). Asian women accepted diagnostic testing at 27.7% more than white, non-Hispanic Black, and Hispanic women at 18.0, 12.1, and 11.7%, respectively, p = 0.002. Number of indications for genetic counseling influenced the likelihood of accepting diagnostic testing. Women with one indication had 11.5% acceptance of diagnostic testing, and with two and three indications, it was 17.0 and 29.2%, respectively. The commonest indication for diagnostic testing was cystic hygroma (risk ratio [RR] = 7.5, 95% confidence interval [CI]: 3.12–8.76 p < 0.001). The relative risk of diagnostic testing for fetuses with shortened long bones, femur and humerus, thickened nuchal fold, echogenic bowel, single umbilical artery, and increased nuchal translucency were 4.0, 3.3, 3.1, 2.7, and 2.7, respectively. Abnormal serum analyte alone was associated with less acceptance of diagnostic testing (RR = 0.8, 95% CI: 0.7–0.96, p = 0.017). Conclusion Age, race, ethnicity, and cumulative number of indications for genetic counseling influenced acceptance of diagnostic testing in at-risk women of fetal aneuploidy and genetic disorders. Key Points Genetic counseling. Fetal aneuploidy. Genetic disorders. Prenatal diagnostic testing. Prenatal diagnostic testing in women with increased risk of fetal aneuploidy and genetic disorders. [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]

Background: Prenatal diagnosis of Berry syndrome, a rare combination of cardiac anomalies including aortopulmonary window (APW), aortic origin of the right pulmonary artery (RPA), interrupted aortic arch (IAA), hypoplastic aortic arch, or coarctation of the aorta (COA), poses a significant challenge. Due to the rarity of the disease, and the limited case reports available to features the complex malformation of Berry syndrome postpartum, this article introduces an innovative approach to visually showcase this unusual disease. The proposed method provides a comprehensive display of the structural deformities, offering valuable insights for clinical practitioners seeking to comprehend this condition. Case presentation: In this report, we present a case where fetal echocardiography aided in diagnosing Berry syndrome, which was later confirmed through postpartum cardiovascular casting. Our experience highlights the importance of using the three-vessel view to diagnose APW and aortic origin of the right pulmonary artery. Additionally, obtaining true cross-sectional and sagittal views by continuously scanning from the three-vessel-trachea view to the long-axis view of the aortic arch is necessary to image IAA or coarctation of the aortic arch. Conclusions: Early and accurate prenatal diagnosis of Berry syndrome is feasible and our cardiovascular cast can perfectly display the microvascular morphology of the fetal heart, which may have great application prospects for postpartum diagnosis and teaching of complex cardiac abnormalities. [ABSTRACT FROM AUTHOR]

Background: Neural Tube Defects (NTDs) are congenital malformations of the central nervous system resulting from the incomplete closure of the neural tube during early embryonic development. Neuroinflammation refers to the inflammatory response in the nervous system, typically resulting from damage to neural tissue. Immune-related processes have been identified in NTDs, however, the detailed relationship and underlying mechanisms between neuroinflammation and NTDs remain largely unclear. In this study, we utilized integrated multi-omics analysis to explore the role of neuroinflammation in NTDs and identify potential prenatal diagnostic markers using a murine model. Methods: Nine public datasets from Gene Expression Omnibus (GEO) and ArrayExpress were mined using integrated multi-omics analysis to characterize the molecular landscape associated with neuroinflammation in NTDs. Special attention was given to the involvement of macrophages in neuroinflammation within amniotic fluid, as well as the dynamics of macrophage polarization and their interactions with neural cells at single-cell resolution. We also used qPCR assay to validate the key TFs and candidate prenatal diagnostic genes identified through the integrated analysis in a retinoic acid-induced NTDs mouse model. Results: Our analysis indicated that neuroinflammation is a critical pathological feature of NTDs, regulated both transcriptionally and epigenetically within central nervous system tissues. Key alterations in gene expression and pathways highlighted the crucial role of STATs molecules in the JAK-STAT signaling pathway in regulating NTDs-associated neuroinflammation. Furthermore, single-cell resolution analysis revealed significant polarization of macrophages and their interaction with neural cells in amniotic fluid, underscoring their central role in mediating neuroinflammation associated with NTDs. Finally, we identified a set of six potential prenatal diagnostic genes, including FABP7, CRMP1, SCG3, SLC16A10, RNASE6 and RNASE1, which were subsequently validated in a murine NTDs model, indicating their promise as prospective markers for prenatal diagnosis of NTDs. Conclusions: Our study emphasizes the pivotal role of neuroinflammation in the progression of NTDs and underlines the potential of specific inflammatory and neural markers as novel prenatal diagnostic tools. These findings provide important clues for further understanding the underlying mechanisms between neuroinflammation and NTDs, and offer valuable insights for the future development of prenatal diagnostics. [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]

Background: Placental infarction refers to a localized area of ischemic villous necrosis resulting from the interruption of maternal blood flow to the intervillous space, which can be attributed to spasm, stenosis, or occlusion of the decidual spiral artery caused by systemic or localized maternal vascular disease. The presence of large placental infarcts may pose significant risks to fetal well-being, including intrauterine growth retardation, fetal distress, and even fetal demise. Although placental infarction is commonly identified during postnatal pathological examinations, its prenatal diagnosis through ultrasound remains challenging and has been rarely reported. Case Presentation: This report presents a case of acute placental infarction diagnosed by prenatal ultrasound using Superb Micro-vascular Imaging (SMI) technology. At 23 weeks' gestation, the ultrasound revealed that the placenta was attached to the left lateral and posterior walls of the uterus, showing localized thickening. Within this area of thickening, there were observed inhomogeneous hypoechoic regions. Superb Micro-vascular Imaging (SMI) revealed an abnormal echogenic region within the thickened placental tissue that lacked microvascular blood flow signals, but showed surrounding vascularity. Visually, this elliptical-shaped echogenic region enveloped by microvascular blood flow. From the 29th weeks of gestation onward, ultrasound suggested that the fetus was small for gestational age. A live baby weighing 2360g was delivered by cesarean section at 37 weeks' gestation. The placenta was approximately 20× 18 × 3 cm with large grayish-yellow infarcts. Conclusion: SMI allows rapid screening of large placental infarcts and easy detection of regions without normal vessel trees, thereby reducing missed diagnoses. Infarct area is easily measured by measuring the area surrounded by small blood vessels, especially in acute placental infarction, which is very helpful in accurately determining infarct size. [ABSTRACT FROM AUTHOR]

This study was to evaluate the performance of noninvasive prenatal testing (NIPT) in detecting fetal chromosome disorders in pregnant women. Methods: From October 1st, 2017, to December 31th, 2022, a total of 15,304 plasma cell free DNA-NIPT samples were collected for fetal chromosome disorders screening. The results of NIPT were validated by confirmatory invasive testing or clinical outcome follow-up. Further, NIPT performance between low-risk and high-risk groups, as well as singleton pregnancy and twin pregnancy groups was compared. Besides, analysis of 111 false-positive cases was performed. Results: Totally, NIPT was performed on 15,086 eligible venous blood samples, of which 179 (1.19%) showed positive NIPT results and 68 were further validated to be true positive samples via confirmatory invasive testing or follow-up of clinical outcomes. For common chromosome aneuploidies, sex chromosome abnormalities (SCA) and other chromosomal aneuploidies, the detection sensitivities of NIPT were all 100%, the specificities were 99.87%, 99.70%, and 99.68% and the positive predictive values (PPVs) were 65.45%, 31.82%, and 10.91%, respectively. No statistically significant variance in detection performance was observed among 2987 high-risk and 12,099 low-risk subjects, as well as singleton and twin pregnancy subjects. The concentration of cell-free fetal DNA of 111 false-positive cases ranged from 5.5% to 33.7%, which was higher than the minimum requirement of NIPT. Conclusion: With stringent protocol, NIPT shows high sensitivity and specificity for detecting fetal chromosome disorders in a large-scale clinical service, helping improving overall pregnancy management. [ABSTRACT FROM AUTHOR]