This case report describes a fetal piriform sinus cyst identified via tomographic ultrasound imaging and discusses its prenatal sonographic characteristics. We employed the tomographic ultrasound imaging function of the GE Voluson Ultrasound E10 to visualize multilevel transverse sections of the cyst. Specifically, we propose for the first time that the cross-sectional shape of a piriform sinus cyst composed of aryepiglottic folds approximates a triangle. This special shape facilitates the precise localization of the piriform sinus, providing valuable insights for timely diagnosis and appropriate postnatal management.

BACKGROUND: Autism spectrum disorder (ASD) is heritable neurodevelopmental disorders (NDDs), but environmental risk factors have also been suggested to a play a role in its development. Prenatal, perinatal and parental factors have been associated with an increased risk of ASD in children. The aim of the present study was to explore the prenatal, perinatal, and parenting risk factors in children with autism spectrum disorder (ASD) from Beijing, China by comparing them with typically developing (TD) children.
METHODS: A sample of 151 ASD children\'s parents who from rehabilitation institutions in Beijing were enrolled in this study, and an additional 151 children from kindergartens in Beijing were recruited as a control group (child age: mean = 4.4 years). TD children were matched according to age, sex and maternal education. We explored the maternal AQ (Autism Spectrum Quotient) scores (mean:19.40-19.71, no significant difference between two groups) to referring the genetic baseline. This study evaluated 17 factors with unadjusted and adjusted analyses.
RESULTS: Birth asphyxia was associated with a more than a thirteen-fold higher risk of ASD (adjusted odds ratio (AOR) = 13.42). Breastfeeding difficulties were associated with a higher risk of ASD(AOR = 3.46). Parenting influenced the risk of ASD, with low responding (LR) and harsh or neglectful parenting associated with a higher risk of ASD in offspring (AOR = 2.37 for LR, AOR = 3.42 for harsh parenting and AOR = 3.01 for neglectful parenting). Maternal fever during pregnancy was associated with a higher risk of ASD in offspring (AOR = 3.81).
CONCLUSIONS: Many factors were associated with ASD in offspring. Further assessment is needed to elucidate the role of modifiable environmental factors to inform prevention strategies.

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

The 22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder caused by hemizygous microdeletion of the long arm of chromosome 22. It is now known to have a heterogenous presentation that includes multiple additional congenital anomalies and later-onset conditions, such as gastrointestinal and renal abnormalities, autoimmune disease, variable cognitive delays, behavioral phenotypes and psychiatric illness. The purpose of our paper is to present the case of a fetus diagnosed with a complex association of cardiac anomalies: interrupted aortic arch type B, large malalignment-type ventricular septal defect, pulmonary valve dysplasia, and aberrant right subclavian artery for whom the result of genetic testing revealed 22q11.2 deletion. The pregnancy was regularly followed until delivery which took place in Germany so that neonatal cardiac surgery could be performed in an experienced center for cardiac malformations. The distinctivness of our report resides in the fact that it offers a complete image of a case of 22q11.2 deletion syndrome starting from the prenatal diagnosis (and emphasizing on the most relevant sonographic features) and, with parents not opting for termination of pregnancy, ending with the newborn surviving major cardiac surgery, offering thus the possibility to bring into focus postnatal outcome and future expectations in similar cases.

OBJECTIVE: This study aims to determine the characteristics and outcome of prenatally diagnosed cardiac rhabdomyomas.
METHODS: This retrospective descriptive study includes cases referred to our university hospital. We studied sonographic characteristics of rhabdomyoma along with the neonatal outcome.
RESULTS: Eight cases were included, with a mean gestational age at diagnosis at 31 weeks of gestation and five patients diagnosed after 32 weeks. We noted a male gender in 75%, multiple rhabdomyoma in 50%, mostly situated in the interventricular septum (41%) and valvular regurgitation in 25%. Most patients delivered at term, including five cesareans (62.5%). Six babies survived (75%); three of them were later diagnosed with tuberous sclerosis (50%).
CONCLUSIONS: Cardiac rhabdomyoma have variable ultrasound features. The usual favorable outcome can however be complicated by neonatal death (12%), valvular regurgitation and cerebral tuber.

Fetus in fetu (FIF) is a rare anomaly of diamniotic monochorionic twins, where a malformed fetus resides within the body of its twin. Most FIF occurs in the retroperitoneal region around the host spine and appears prenatally as a solid-cystic mass consisting of fetal-like structures. Imaging has an important role in the diagnosis of FIF. The present study reported a single case, a 45-year-old woman, with a teratoma in a third-trimester fetus diagnosed after prenatal ultrasonography (US), which showed a mass containing fetus-like echoes. FIF was considered after the US showed that the mixed solid-cystic retroperitoneal mass around the vertebral axis of the host fetus consisted of two separate masses, each containing distinct fetal visceral structures. One fetus was acardiac and the other parasitic fetus was visible with a weak heartbeat. Postpartum magnetic resonance imaging and ultrasonography (US) scans of the newborn showed a retroperitoneal cystic space-occupying mass with distinctive limbs and visceral structures. The pathological examination further confirmed the diagnosis of retroperitoneal FIF. Also, a prenatal US could detect FIF in utero. A cystic-solid mass containing long bones, vascular pedicles, or visceral structures around the vertebral axis of the host fetus in the US might suggest the possibility of a FIF.

Congenital peribronchial myofibroblastic tumor (CPMT) is an extremely rare lung disease in infants. It shows benign behavior and has a favorable survival after surgical treatment. CPMT was reported only in cases. Here, we report the longest follow-up known case of CPMT and review the clinical, radiographic and histopathological features of the published literature.
Ultrasound examination at 30 weeks of gestational age of a healthy 29-year-old female revealed a solid mass in the left lung. Computed tomography (CT) revealed a mass in the left lower lobe. The tumor was removed by lobectomy and pathologically diagnosed with CPMT. The tumor was composed of cartilage, spindle cells and oval cells. Vimentin was strongly positive. Smooth muscle actin (SMA) was positive in the spindle cells. The histopathologic and immunohistochemical features were similar to those in the literature. No ETV6-NTRK3 fusion or ALK rearrangement was detected. Gene mutations in JAK2 and SMO were detected by NGS. She is currently alive for 8 years with no evidence of disease recurrence.
CPMT is a rare lung tumor in infants. Surgical treatment is recommended for CPMT. The prognosis after successful surgery is favorable. The final diagnosis was histopathologic findings. Due to its cellularity, mitotic activity and rapid growth, long-term follow-up should be strengthened. The present patient is alive and well for 8 years after the surgery without recurrence. Gene mutations in JAK2 and SMO were detected, which may be associated with the formation of CPMT.

OBJECTIVE: The main objectives of this case report are to discuss prenatal ultrasound findings of congenital radioulnar synostosis and to review the literature.
METHODS: A patient was diagnosed with congenital radioulnar synostosis at eight months old when parents noticed limited motions in the child\'s left forearm. The parent denied any traumatic or family history of bony malformations. Physical examination by a pediatric orthopedics specialist and digital radiography revealed proximal radioulnar synostosis. The case report includes perinatal course, comparison between the postnatal radiography and fetal ultrasound images.
CONCLUSIONS: Congenital radioulnar synostosis is often associated with sex chromosome abnormalities and congenital musculoskeletal disorders or syndromes affecting limbs. Isolated congenital radioulnar synostosis is hardly diagnosed before birth, in some cases even have been neglected postnatally. Knowing the developmental milestones of the forearm and specified high-risk groups might help develop a targeted screening strategy to increase the possibility of early detection and intervention.

OBJECTIVE: The first trimester combined risk of trisomy 21 is obtained by multiplying the risk related to maternal age by the likelihood ratios of nuchal translucency, free beta-human chorionic gonadotrophin (β-hCG) and placenta associated plasma protein-A. Beyond five multiples of the median (MoM) of β-hCG, the risk of trisomy 21 is truncated. The objective of the present study was to evaluate the evolution of the first trimester combined risk of trisomy 21 in individuals with first-trimester free-β-hCG levels between 5 and 10 MoM.
METHODS: We conducted a non-interventional cohort study from a 6-year database of combined first-trimester trisomy 21 screening of all individuals who underwent the screening in a French specialized medical analysis center. We included all pregnant individuals who had a serum-free β-hCG between 5 and 10 MoM. Patients for whom the status of the fetus, with or without trisomy 21, was not identified by the outcome of the pregnancy or by a karyotype result were excluded from the study. The discriminatory capacity of free-β-hCG above 5 MoM was studied by a receiver operating characteristic curve. We used an orthogonal polynomial regression to represent the evolution of likelihood ratios according to free-β-hCG in MoM.
RESULTS: Among 413 216 combined first-trimester screens of trisomy 21, 2239 (0.5%) screens met the inclusion criteria. In the selected population, 801 (35.8%) were excluded from the study because of missing fetal or neonatal status, and 46 (3.2%) fetuses out of 1438 included were diagnosed with trisomy 21. For free β-hCG values between 5 and 10 MoM, the area under the curve is 0.56 (0.46-0.65). The scatterplot of the likelihood ratio of β-hCG showed an increasing parabolic pattern: the likelihood of trisomy 21 increases with the free-β-hCG threshold.
CONCLUSIONS: To override the truncated risk of trisomy 21 in case of free β-hCG values between 5 and 10 MoM, the study has allowed us to estimate the adjusted risk of trisomy 21, enabling health professionals to offer appropriate prenatal counseling.

UNASSIGNED: Congenital perineal hamartomas are rare, and reports of prenatal ultrasound diagnosis are limited. Perineal hamartomas are usually associated with other structural malformations, which complicate the therapeutic regime.
UNASSIGNED: We report a case of perineal hamartomas associated with rectal duplication in a female fetus. A review of the literature on similar cases was also presented. A fetus was first diagnosed with a perineal mass at 33 weeks of gestation using ultrasound examination in our hospital. Two-dimensional ultrasonography showed a hyperechoic mass resembling a scrotum in the perineum of the fetus. The pedicle connected the mass to the fetal anus. The masses were excised after birth, and perineal hamartomas were confirmed by pathological diagnosis. Rectal duplication, an associated malformation, was found during the surgery. The rectal duplication cyst was removed at the same time.
UNASSIGNED: Congenital perineal masses are rare and are usually associated with urogenital and anorectal malformations. Prenatal ultrasound should be used to assess the position and relationship between the mass and perineal organs, and to exclude other combined deformities.