Ultrasound in Obstetrics & GynecologyVolume 62, Issue 2 p. 300-302 Letter to the Editor Prenatal sonographic phenotype of Raine syndrome: detection of novel FAM20C gene mutation at 20 weeks A. Andrews, A. Andrews Department of Fetal Medicine, Lifeline Super Speciality Hospital, Adoor, Kerala, IndiaSearch for more papers by this authorS. B. Nair, S. B. Nair Department of Medical Genetics, Lifeline Super Speciality Hospital, Adoor, Kerala, IndiaSearch for more papers by this authorD. Singh, Corresponding Author D. Singh [email protected] orcid.org/0000-0002-5303-5499 Department of Radio-diagnosis, Prime Imaging and Prenatal Diagnostics, Sector 24 D, Chandigarh, IndiaCorrespondence. (e-mail: [email protected])Search for more papers by this author A. Andrews, A. Andrews Department of Fetal Medicine, Lifeline Super Speciality Hospital, Adoor, Kerala, IndiaSearch for more papers by this authorS. B. Nair, S. B. Nair Department of Medical Genetics, Lifeline Super Speciality Hospital, Adoor, Kerala, IndiaSearch for more papers by this authorD. Singh, Corresponding Author D. Singh [email protected] orcid.org/0000-0002-5303-5499 Department of Radio-diagnosis, Prime Imaging and Prenatal Diagnostics, Sector 24 D, Chandigarh, IndiaCorrespondence. (e-mail: [email protected])Search for more papers by this author First published: 11 March 2023 https://doi.org/10.1002/uog.26200Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat No abstract is available for this article. Open Research DATA AVAILABILITY STATEMENT The data that support the findings of this study are available from the corresponding author upon reasonable request. Supporting Information Filename Description uog26200-sup-0001-VideoS1.mp4MPEG-4 video, 13.6 MB Videoclip S1 Grayscale ultrasound imaging in fetus with Raine syndrome at 26 weeks' gestation. uog26200-sup-0002-VideoS2.mp4MPEG-4 video, 21.4 MB Videoclip S2 Grayscale ultrasound imaging in fetus with Raine syndrome at 29 weeks' gestation. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article. References 1Chitayat D, Shannon P, Keating S, Toi A, Blaser S, Friedberg T, Superti-Furga A, Chong K, Unger S. Raine syndrome: a rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings. Am J Med Genet A 2007; 143A: 3280–3285. 2El-Dessouky SH, Abdel-Hamid MS, Abdel-Ghafar SF, Aboulghar MM, Gaafar HM, Fouad M, Ahmed AH, Abdel-Salam GMH. Raine syndrome: Prenatal diagnosis based on recognizable fetal facial features and characteristic intracranial calcification. Prenat Diagn 2020; 40: 1578–1597. 3Tamai K, Tada K, Takeuchi A, Nakamura M, Marunaka H, Washio Y, Tanaka H, Miya F, Okamoto N, Kageyama M. Fetal ultrasonographic findings including cerebral hyperechogenicity in a patient with non-lethal form of Raine syndrome. Am J Med Genet A 2018; 176: 682–686. 4Rameh G, Megarbane A, Jalbout L, Snaifer E, Saliba S, Nassar A, Chalouhi G. Raine syndrome: Report of a novel mutation and review of the different antenatal imaging modalities used to diagnose this disease. Prenat Diagn 2022; 42: 589–600. 5Faundes V, Castillo-Taucher S, Gonzalez-Hormazabal P, Chandler K, Crosby A, Chioza B. Raine syndrome: an overview. Eur J Med Genet 2014; 57: 536–542. 6Hernández-Zavala A, Cortés-Camacho F, Palma Lara I, Godinez-Aguilar R, Espinosa-García AM, Pérez-Durán J, Villanueva-Ocampo P, Ugarte-Briones C, Serrano-Bello CA, Sanchez-Santiago P, Bonilla-Delgado J, Yañez-López MA, Victoria-Acosta G, López-Ornelas A, García Alonso-Themann P, Moreno J, Palacios-Reyes C. Two novel FAM20C variants in a family with Raine syndrome. Genes (Basel) 2020; 11: 222. 7Whyte MP, McAlister WH, Fallon MD, Pierpont ME, Bijanki VN, Duan S, Otaify GA, Sly WS, Mumm S. Raine syndrome (OMIM #259775), caused by FAM20C mutation, is congenital sclerosing osteomalacia with cerebral calcification (OMIM 259660). J Bone Miner Res 2017; 32: 757–769. Volume62, Issue2August 2023Pages 300-302 ReferencesRelatedInformation

Tumours of the hand can arise from various tissues and may present before birth. These tumours are rare and prenatal detection plays an important role in the understanding of the natural history and pathophysiology, which may be associated with serious illness or even death in the fetal or neonatal period. We present the case of a 29-year-old second gravida who came for an anomaly scan at 23 weeks of gestation. The ultrasound examination revealed a hypoechoic mass lesion along the dorsal aspect of the left hand (figure1) measuring 4.7 × 4.0 cm in size. Power Doppler examination showed moderate central and perilesional vascularity (figure 2a,b). Colour Doppler and 3D power Doppler showed dilated radial and ulnar arteries in the forearm (figure 3 a,b). On spectral Doppler, low impedance flow seen within the mass lesion (figure 4). No other associated anomaly was seen. Fetal magnetic resonance imaging (MRI) of the mass showed a low-signal-intensity soft tissue mass on T1-weighted imaging and inhomogeneous high-signal-intensity on T2-weighted imaging (figure 5a,b). The mass was seen in the subcutaneous plane overlying the wrist and proximal part of the hand and there was no cortical destruction or marrow involvement. During the course of the pregnancy, the mass showed significant increase in the size with associated increase liquor at 28 weeks of gestation. The patient went into preterm labour at 31 weeks of gestation due to polyhydramnios and delivered a male baby who developed neonatal respiratory distress and died. The histopathological examination of the mass provided a diagnosis of fibrosarcoma. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

Multiple studies have demonstrated that obtaining standardized fetal brain biometry from mid-trimester ultrasonography (USG) examination is key for the reliable assessment of fetal neurodevelopment and the screening of central nervous system (CNS) anomalies. Obtaining these measurements is highly subjective, expertise-driven, and requires years of training experience, limiting quality prenatal care for all pregnant mothers. In this study, we propose a deep learning (DL) approach to compute 3 key fetal brain biometry from the 2D USG images of the transcerebellar plane (TC) through the accurate and automated caliper placement (2 per biometry) by modeling it as a landmark detection problem. We leveraged clinically relevant biometric constraints (relationship between caliper points) and domain-relevant data augmentation to improve the accuracy of a U-Net DL model (trained/tested on: 596 images, 473 subjects/143 images, 143 subjects). We performed multiple experiments demonstrating the effect of the DL backbone, data augmentation, generalizability and benchmarked against a recent state-of-the-art approach through extensive clinical validation (DL vs. 7 experienced clinicians). For all cases, the mean errors in the placement of the individual caliper points and the computed biometry were comparable to error rates among clinicians. The clinical translation of the proposed framework can assist novice users from low-resource settings in the reliable and standardized assessment of fetal brain sonograms.

Ba 1-x Sr x TiO 3 (0.0 ≤ x ≤ 0.5) nanoceramics were synthesized via sol-gel route and the structural and electric properties of the resulting compositions were investigated. revealed A tetragonal crystal structures for x = 0.0 - 0.3 and a cubic structure for x = 0.5 compositions was revealed by X-ray diffraction. The smaller ionic radii of Sr ions resulted in the lowering of c/a ratio with increasing x and a tetragonal to cubic structural transformation was observed at around x = 0.4. The average crystallite size gradually decreased with increasing x from 0 to 0.5. This trend was visible in electron micrographs. The room temperature dielectric constant in these nanoceramics increases with increasing Sr and a maximum value of 1553 was observed for x =0.3. Curie temperature ( T c ) of 125 °C was obtained for x =0.0, which shifted toward lower temperature with increasing x value. The value of T c was observed as 100 and 75 °C for x = 0.1 and 0.3, respectively. The remnant polarization ( P r ), saturation polarization ( P s ), and coercive field ( E c ) decreased with increasing Sr concentration in BT due to the structural modifications. Value of P r decreases from 0.637 to 0.229 μC/cm 2 , P s decreases from 8.910 to 3.238 μC/cm 2 and E c decreases from 0.631 to 0.255 kV/cm with increasing x from 0 to 0.5.

BaTi 1-x Fe x O 3 compositions for x = 0.0 - 0.5 were successfully synthesized using solgel method and the structural, dielectric, ferroelectric, and ferromagnetic properties of these compositions were studied. X-Ray diffraction patterns revealed a tetragonal phase in x=0.0 composition which changed to the hexagonal phase in x = 0.4 and 0.5 compositions. The co-existence of tetragonal and hexagonal phases was observed in iron doped samples up to x= 0.3. The difference in ionic radii of Ti and Fe ions was responsible for changing c/a ratio. Average grain size was found gradually increasing with Fe content in these compositions and was also observed in SEM micrographs. The dielectric constant and tangent loss were found decreasing with Fe concentration. The values of remnant and saturation polarizations decreased whereas that of saturation magnetization increased with an increasing content of Fe in barium titanate.

To illustrate sonographic features to differentiate bladder endometriosis from other common bladder lesions causing pelvic pain and hematuria. The study included three cases of bladder endometriosis, one case of cystitis glandularis cystica and two cases of transitional cell carcinoma of the urinary bladder which were close to the uterovesical fold region. The patients presented with complaints of pelvic pain or hematuria or both. Transabdominal and transvaginal sonography with a filled bladder was performed which showed a bladder mass. The mass was observed in longitudinal and transverse plane. Both grey scale and colour Doppler images were obtained. The surface of the mass, its angle of contact with the bladder wall in transverse plane and colour score were compared in all cases. The cases of bladder endometriosis had a relatively smooth surface likely due to their submucosal nature (figure 1a, b). The mucosal lesions, namely bladder malignancy (figure 1c) and cystitis glandularis cystica (figure 1d) had a corrugated surface. Also, the angle of contact of endometriosis with the bladder wall was obtuse (figure 1e) while that of the other lesions was nearly perpendicular or acute (figure 1f). Bladder endometriosis cases had a colour score of 1 or 2 while the other lesions had a score of 2 or more. Grey scale and colour Doppler features of bladder endometriosis can help in differentiating it from other bladder lesions which mimic it clinically. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

The aim of the study is to evaluate the utility of obtaining a posterior coronal view of the face to diagnose cleft palate in the first trimester. 200 normal and six fetuses with facial clefts were included. Palate was assessed in the sagittal and coronal planes. A defect in the base of the retronasal triangle in the anterior coronal plane (for cleft in primary palate) and the maxillary gap in the sagittal plane were sought. Posterior coronal plane of the palate at the level of the zygoma was included for assessment of the secondary hard palate. Intact palate was observed in all normal fetuses (figure 1a–c). Three cases of unilateral cleft palate and two cases of bilateral cleft palate were included in the study. All these showed a maxillary gap in the sagittal plane and a defect in the base of the retronasal triangle in the anterior coronal plane alongwith a palatine defect in the posterior coronal plane. There was one case of secondary cleft palate alongwith unossified nasal bone and micrognathia confirmed on fetal autopsy. A defect in secondary hard palate was visualised clearly in the posterior coronal plane in this case with an intact base of the retronasal triangle (figure d–f). Posterior coronal plane of the fetal face can provide valuable information regarding integrity of the secondary hard palate in the first trimester. It is easily obtained from the anterior coronal plane of the retronasal triangle. It can be useful in confirming a suspicion of secondary cleft palate by using a biplanar approach. Supporting Information Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

Roberts syndrome is inherited in an autosomal recessive pattern because of mutations in the ESCO2 gene, which leads to delayed cell division, increased cell death and impaired cell proliferation. Infants with a severe form of Roberts syndrome are often stillborn or die shortly after birth. Little is known about the natural history of Roberts syndrome and less than 150 cases have been described in the literature. Wide clinical variability is observed among affected. The prognosis for an affected individual depends on the malformations present. We describe antenatal detection of a case of bilateral symmetric tetraphocomelia and septated cystic hygroma at 15 weeks of gestation in early second trimester. The pregnancy was terminated subsequently. Supporting information can be found in the online version of this abstract Supporting Information Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

30-year-old, para 1 with previous Caesarean section presented with complaint of dysuria during menstruation for the last six months. She had undergone urine microscopy and culture examination which was normal. Transabdominal sonography (figure 1a) revealed a polypoidal mass arising from the posterior wall of the urinay bladder. Transvaginal sonography (figure 1b) showed an echogenic lesion with frond-like surface arising from the posterior wall of the urinay bladder and projecting into its lumen. It showed mild vascularity on colour Doppler (figure 1c). The lesion was seen in the vicinity of the Caesarean scar site. Uterus and ovaries were normal. A diagnosis of bladder endometriosis was suggested. Cystoscpy revealed a yellowish polypoidal lesion arising from the posterior bladder wall. It was resected. Histopathological examination revealed fragments lined by urothelium. Subepithelium showed cystically dilated glands filled with mucinous material. Few Von Brunn's nests were seen. No dysplasia/ malignancy was noted. Features were suggestive of cystitis glandularis cystica. The case illustrates an unusual non- neoplastic cause of bladder mass in a young woman with strong clinical and sonolgical suspicion of bladder endometriosis. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

We describe the case of a 28-year-old primigravida who conceived spontaneously after 10 years of primary infertility. She was referred due to the observation of a bulky uterus with multiple echolucent spaces at 18 weeks of gestation. B mode image showed an enlarged uterus with multiple anechoic spaces involving the entire myometrium giving a ‘swiss-cheese’ appearance. On colour Doppler, these cystic spaces showed a low velocity monophasic flow pattern suggestive of a venous malformation. Both uterine arteries showed normal low resistance flow pattern. The fetus showed a normal morphology with adequate liquor. Follow up sonograms showed persistence of the uterine abnormality with appropriate fetal growth and a normal amniotic fluid index. The course of the pregnancy was uneventful and the baby was delivered by elective Caesarean section at 38 weeks. Intraoperatively, the uterine walls were thick and had multiple engorged vessels within. Myometrial biopsy was taken. The histolopathological examination of the myometrial specimen revealed venous malformation of the uterine wall. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

To assess the outcome and prognostic factors of duplication cysts detected in various locations. Seven cases of duplication cysts presenting between 20 and 34 weeks of gestation were included in this retrospective study. They were identified by their anechoic appearance on B mode. Proximity to a segment of the gut and peristalsis were sought for to arrive at a diagnosis. All cases were followed up on a four weekly basis to assess their antenatal course. There was 1 duplication cyst each in the mouth and esophagus. Five cysts were seen in the abdomen one of which was gastric, two enteric and two rectal in origin. The size of the abdominal cysts ranged from 1.8- 12 cm. All abdominal cysts resolved spontaneously (ante- or postnatally) without any intervention. The esophageal duplication cyst continued to increase in size from the time of initial diagnosis and needed postnatal resection. The oral cyst remained stable in size and was resected postnatally. Fetal duplication cysts have a favourable outcome. The initial size of the cyst at the time of diagnosis does not determine the postnatal outcome or need for intervention. It is the course of the cyst during pregnancy and its mass effect on surrounding structures which are more significant determinants of postnatal outcome.

To assess osseous anatomy of normal fetal shoulder and utilise the knowledge for detection of shoulder abnormalities. Fetal shoulder evaluated in 200 normal fetuses between 16-23 weeks of gestation. The shoulder was assessed in axial, coronal and sagittal planes. This was done at the time of assessment of fetal spine. With the fetal spine facing the transducer in a sagittal plane, probe was angulated towards each side. Axial plane was obtained by a 90° probe rotation from sagittal plane of spine at the level of cervicodorsal junction followed by gradual caudal sliding to first bring both clavicles and then the scapulae into view. Antero-posterior probe angulation from coronal plane of the spine delineated the coronal anatomy. Two cases of fetal shoulder abnormality were also included. Fetal shoulder seen in all the three planes successfully in the controls. Two feti had shoulder abnormality. First fetus at 22 weeks gestation had left Sprengel's deformity with absent left kidney which was confirmed postanatally. The second fetus at 18 weeks had right Sprengel's deformity with hypoplastic scapula and clavicle which was confirmed on fetal autopsy. In both cases, the initial suspicion arose due to the suggestion of a hump on the fetal back and visualisation of the scapula close to the spine in paramedian location when angling the probe from sagittal plane towards one side. The other planes were used to confirm the diagnosis. 3D rendering was used to illustrate the pathology. Osseous anatomy of fetal shoulder can be assessed on sonography. Shoulder abnormalities may occur in isolation or as part of a syndrome. Antenatal diagnosis can guide subsequent management of the pregnancy. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

To investigate the potential for first trimester diagnosis of ACC by measuring the diameter of TVC and its relationship to cerebral falx diameter. We prospectively evaluated 2037 patents coming for 11-13+6 wks scan. In these the diameter of the TVC and the falx diameter was measured in the mid-sagittal view of brain. In the same view the sphenoid bone (S) is located and the TVC diameter is measured as the maximum distance between upper border of the sphenoid bone to the upper border of the hypoechogenic TVC. The Falx diameter is measured as the maximum distance between the upper border of TVC inferiorly and the skin of the fetal head superiorly. Then the ratio of both the diameters was calculated. All these fetuses were followed up for anomaly scan. The ratio of the diameter of the TVC and the diameter of the falx was calculated. In normal 2031 fetuses, the ratio of TVC to falx diameter was < 1. In 6 patients the ratio >1. One of the 6 patients showed a thickened nuchal translucency and CVS showed Trisomy 21 who opted for termination of pregnancy. Rest of the 5 patients were followed up by anomaly scan, which showed ACC. This study confirms that mid-sagittal view of the fetal brain at 11–13+6 weeks shows abnormalities in the TVC and falx area of the brain in majority of fetuses with ACC. This simple measurement can be implemented in this plane while assessing the nuchal translucency, the nasal bone and intracranial translucency. Supporting information can be found in the online version of this abstract Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

Fetal ascites can occur due to numerous causes: viral, chromosomal, genitourinary, gastrointestinal, cardiopulmonary and hematologic disorders. The etiology of ascites determines postnatal outcome. A knowledge of etiology of ascites aids effective counselling and management. We present a case of fetal ascites in a 28-year old second gravida at 21 weeks of gestation. Ultrasound of the fetal abdomen revealed fluid around the liver and small bowel. No bowel dilatation was seen. An ill-defined hypoechoic area was seen in the mesentery. Middle cerebral artery peak systolic velocity was normal. No other abnormality was noted. The woman's blood group was Rhesus positive. There was no significant medical or family history. Maternal TORCH screening was negative. Amniocentesis revealed normal karyotype. A follow-up sonogram after one month revealed complete resolution of the ascitic fluid. Instead, there were linear calcific foci seen along the surface of the liver and the small bowel in the location of fluid seen on the previous scan consistent with meconium peritonitis. A well circumscribed hypoechoic lesion measuring 1.9 x 1.4 cm with calcified wall suggestive of a meconium pseudocyst was seen in the mesentery at the site of the ill-defined hypoechogenicity seen earlier. Bowel pattern was appropriate for the period of gestation. The patient delivered a 2.9 kg boy at term. The neonate passed meconium within 8 hours of birth. Postnatal ultrasound did not reveal any abnormality. The infant was doing well on postnatal follow-up at two months. This case illustrates the sonologic chronology of in-utero intestinal perforation presenting as fetal ascites. The ill-defined hypoechogenicity in the mesentery observed in the first sonogram was likely due to mesenteritis and meconium spillage. Identification of mesenteric hypoechogenicity in a fetus with ascites can serve as a pointer towards the occurrence of bowel perforation. Isolated bowel perforation has a favourable outcome.

Horseshoe kidney is characterised by fusion of the lower pole of the kidneys. Visualisation of the isthmus is its definitive sonographic finding. The surrounding bowel may obscure the isthmus. The objective of this study was to assess the utility of colour Doppler sonography for detection of horseshoe kidney. This prospective study recruited 1244 consecutive women scheduled for a second trimester sonogram between 17-23 weeks of gestation. Fetal kidneys were screened in the coronal plane using B-mode and colour Doppler by lateral insonation of the fetal abdomen. In case of suspicion of an anomaly, additional planes (transverse and sagittal) were obtained. On colour Doppler, the fetal renal artery is seen arising from the abdominal aorta at an angle close to 70° and coursing laterally towards the renal hilum. Horseshoe kidney is placed lower than usual and its pelvis is rotated anteriorly. This altered orientation of the kidney leads to a variation in the course of its artery. Total of 4 cases of horseshoe kidney were detected. The renal artery was arising from the abdominal aorta in 3 cases. In all these, the renal artery was seen originating from the abdominal aorta at a more acute angle (<55°) with a more oblique, caudally directed course. This sagging course of the renal artery can serve as a sonographic pointer for horseshoe kidney. One case had its renal arterial supply from the iliac arteries. An altered course of the renal artery originating from the abdominal aorta, akin to the sagging branch of a tree can serve as a clue for the presence of horseshoe kidney. The renal artery should be assessed with colour Doppler in a true coronal plane. An oblique plane can give a false positive appearance of a sagging course. A limitation to the use of the sagging sign is when renal arterial origin is not from the aorta. In such cases, the absence of renal artery in its expected location should prompt a thorough evaluation leading to the diagnosis.