Search

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

ADNP syndrome, also known as the Helsmoortel-Van der Aa syndrome (HVDAS), is a neurodevelopmental disorder characterized by hypotonia, developmental delay, and intellectual disability. Diagnosis is typically made postnatally, and little is known about prenatal presentation of the disorder. We report a child who presented with intrauterine growth restriction, proportionate microcephaly, and an abnormal skull shape on fetal ultrasound. Whole exome sequencing performed on amniotic fluid cells showed a de novo pathogenic variant in the ADNP gene, corresponding to a diagnosis of ADNP syndrome. [ABSTRACT FROM AUTHOR]

Cholesterol is essential in the brain from the earliest stages of embryonic development. Disruption of cholesterol synthesis pathways that leads to cholesterol deficiency underlies a few syndromes, including desmosterolosis and Smith–Lemli–Opitz syndrome. In both syndromes, brain anomalies can occur. The LSS gene encodes lanosterol synthase (LSS), an important enzyme in the cholesterol biosynthesis pathway. Biallelic pathogenic variants in this gene cause alopecia–intellectual disability type 4 syndrome (APMR4, MIM 618840), a rare autosomal recessive disorder. Here, we describe two new LSS variants (c.1016C > T; p. Ser339Leu and c.1522G > C; p. Gly508Arg) found in a compound heterozygous fetus diagnosed prenatally with brain abnormalities by ultrasound scanning. Two of his siblings from the same parents also harbored these variants. Both siblings had alopecia, mild intellectual disability, autism spectrum disorder, and cataracts. To the best of our knowledge, this case represents the first prenatal diagnosis of APMR4 first suspected by ultrasound. In addition, the phenotypic features of the siblings are extensive compared with those described in previous reports and include abnormal corpus callosum, cataracts, alopecia, and developmental delay. • Lanosterol synthase variants causing APMR identified due to fetal brain anomalies. • This case is the first prenatal diagnosis of APMR, first suspected by ultrasound. • Fetal genetic testing can help unravel an undiagnosed familial genetic history. [ABSTRACT FROM AUTHOR]

As an effective way of routine prenatal diagnosis, ultrasound (US) imaging has been widely used recently. Biometrics obtained from the fetal segmentation shed light on fetal health monitoring. However, the segmentation in US images has strict requirements for sonographers on accuracy, making this task quite time-consuming and tedious. In this paper, we use DeepLabv3+ as the backbone and propose an Integrated Semantic and Spatial Information of Multi-level Features (ISSMF) based network to achieve the automatic and accurate segmentation of four parts of the fetus in US images while most of the previous works only segment one or two parts. Our contributions are threefold. First, to incorporate semantic information of high-level features and spatial information of low-level features of US images, we introduce a multi-level feature fusion module to integrate the features at different scales. Second, we propose to leverage the content-aware reassembly of features (CARAFE) upsampler to deeply explore the semantic and spatial information of multi-level features. Third, in order to alleviate performance degradation caused by batch normalization (BN) when batch size is small, we use group normalization (GN) instead. Experiments on four parts of fetus in US images show that our method outperforms the U-Net, DeepLabv3+ and the U-Net++ and the biometric measurements based on our segmentation results are pretty close to those derived from sonographers with ten-year work experience. [ABSTRACT FROM AUTHOR]

The use of exome sequencing (ES) in the prenatal setting improves the diagnostic yield of genetic testing for fetuses with ultrasound anomalies. However, while the purpose of ES is to explain the fetal phenotype, secondary or incidental findings unrelated to the observed abnormalities might be detected. Recently, requests for ES in fetuses with no sonographic abnormalities have been increasing, raising serious ethical and medico-legal concerns. Variant interpretation is complex even in the postnatal setting and performing broad genomic data analyses in the prenatal setting presents additional dilemmas. This article discusses challenges and questions related to prenatal ES, including variant interpretation of incidental findings in cases of indicated prenatal ES, as well as in situations where ES is performed in asymptomatic fetuses. [ABSTRACT FROM AUTHOR]

We described a simplified and high-performance test (E-Q-PCR) for rapid assessment of the DNA methylation status at LIT1, a major genetic locus of Beckwith-Wiedemann syndrome (BWS). The E-Q-PCR test can detect and quantify the methylation changes between BWS fetuses and unaffected individuals in aminocytes as well as in lymphocytes and can be completed in 1 working day, and thus is a useful method for prenatal molecular diagnosis of BWS. [ABSTRACT FROM AUTHOR]

We report a case of giant urachal cyst in a neonate presenting characteristic features on fetal ultrasonography. A 28-year-old woman of 21 weeks gestation was referred to our hospital for evaluation of a cystic mass in the lower portion of the fetal abdomen. On fetal ultrasonography, at 23 weeks gestation, the two umbilical arteries in the base of the umbilical cord became separated from each other due to the fetal cyst. On fetal MRI, at 25 weeks gestation, the cyst was depicted as a unilocular serous cyst, independent of the surrounding organs such as the kidney, gallbladder and intestines. The cyst had no communication with the bladder or umbilical cord. A male infant was delivered at term. Although the infant was thriving and remained asymptomatic, an enhanced CT examination 13 days after birth showed the cyst was still present without any decrease in size. The infant underwent surgery to make a definite diagnosis and to prevent future complications. The cyst was excised without any complication and finally diagnosed as a urachal cyst based on morphological and pathological findings. [ABSTRACT FROM AUTHOR]

Although the prognosis of CHARGE syndrome can be highly variable from mild until severe, final diagnosis is difficult to establish in utero. The aim of our study is to compare antenatal and postnatal findings in a retrospective cohort of 10 successive patients with a positive CHD7 gene variant in order to identify the specific prenatal features for CHARGE syndrome diagnosis. Fetal ultrasound, follow-up and supplementary investigations are collected and compared to postnatal findings. Congenital heart defect (7/10), choanal atresia (7/10) and tracheoesophageal atresia (4/10) are the most frequent fetal anomalies found. Inner and external ear anomalies appear as the keystone (constant features) for prenatal diagnosis of CHARGE syndrome in fetuses with multiple anomalies and normal microarray karyotype. External ear malformations are identified in all cases by 3D ultrasound when carefully evaluated. MRI and temporal bone CT-Scan are second line useful tools to assess the diagnosis when looking for semicircular canal agenesis, arhinencephaly and/or choanal atresia. Before availability of prenatal exome sequencing in clinical routine, present findings lead to the recommendation that fetuses, with congenital heart defect (mainly septal and conotruncal), cleft lip/palate or unexplained polyhydramnios should carefully be screened for clues suggesting CHARGE syndrome using 2D and 3D ultrasound, MRI and temporal bone CT-Scan. When CHARGE syndrome is suspected with normal molecular karyotype, CHD7 gene sequencing must be offered. [ABSTRACT FROM AUTHOR]