Heng Zhang, Ying Zheng, Gang Ning, Chuan Fu, Li Bao
{"title":"Preoperative MRI presentations of Herlyn–Werner–Wunderlich syndrome","authors":"Heng Zhang, Ying Zheng, Gang Ning, Chuan Fu, Li Bao","doi":"10.1111/cga.12489","DOIUrl":"10.1111/cga.12489","url":null,"abstract":"<p>Herlyn–Werner–Wunderlich (HWW) syndrome is a rare complex female urogenital anomaly, with diverse anatomical presentations. Due to obstruction, most patients with HWW syndrome need to be addressed surgically. The treatment strategy should be tailored to the different anatomical variants of each patient. Therefore, a detailed and comprehensive preoperative evaluation is needed. In this review, we describe the embryology and clinical manifestations of HWW syndrome and discuss and illustrate its diverse preoperative magnetic resonance imaging presentations to guide clinical treatment.</p>","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2022-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40680654","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Javier Arredondo Montero, Mónica Bronte Anaut, María Cristina Caballero Martínez, Maria Pilar Fernández Seara, Nerea Martín-Calvo
{"title":"Congenital cytomegalovirus infection with brainstem hemorrhage and polymicrogyria: Necropsic and histopathological findings","authors":"Javier Arredondo Montero, Mónica Bronte Anaut, María Cristina Caballero Martínez, Maria Pilar Fernández Seara, Nerea Martín-Calvo","doi":"10.1111/cga.12488","DOIUrl":"10.1111/cga.12488","url":null,"abstract":"<p>Congenital cytomegalovirus (CMV) infection can cause severe neurological sequelae or even fetal death. We present a 17-year-old pregnant woman with fetal CMV infection, leading to voluntary termination of pregnancy. Fetopsy demonstrated a brainstem hemorrhage and focal polymicrogyria. CMV inclusions were observed in the lung, liver, thyroid, pancreas, kidneys, adrenal, placenta, and central nervous system. Intracranial hemorrhage is a rare finding in the context of congenital CMV infection, with isolated brainstem hemorrhage being an exceptional form of presentation. Polymicrogyria appears to be a more frequent finding, although its actual incidence is unknown. Future studies are needed to determine the causal association.</p>","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2022-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cga.12488","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10484534","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Caroli's syndrome with autosomal recessive polycystic kidney disease on fetal MRI: A case report","authors":"Vanita Baberwal, Anjali Prakash, Anju Garg, Sapna Singh, Sangeeta Gupta","doi":"10.1111/cga.12490","DOIUrl":"10.1111/cga.12490","url":null,"abstract":"A 21-year-old pregnant woman (gravida 1, abortion 0) with a his-tory of acrocyanosis and raised AST/ALT was referred for ultrasound assessment. The gestational age was 32 weeks according to LMP and 31 weeks 2 days as per biometry. USG revealed severe oligohydramnios with enlarged and echogenic bilateral kidneys (Figure 1A). The urinary bladder was not visualized. Fetal liver showed a single small cystic structure in the right lobe of the liver (Figure 1B). The fetal MRI was done after 2 days of ultrasound examination on 3T system to further evaluate. Sequences used were ultrafast T1 and T2 (VIBE and HASTE, respectively). MRI dem-onstrated single intrauterine fetus in breech presentation with severe oligohydramnios. Bilateral kidneys were grossly enlarged and showed increased T2 signal intensity with few cysts (Figure 1C). The urinary bladder was not seen. The liver was normal in size and showed tubular and cystic dilatation of intrahepatic biliary channels with most of them showing “ central dot sign ” (Figure 1D). Both fetal lungs showed low signal intensity (Figure 1D). The fetal spleen was normal in size. The fetal MRI findings were suggestive of Caroli's syndrome with ARPKD and bilateral pulmonary hypoplasia. The baby","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2022-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10476113","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Nilesh Tank, Benjamin Martin, Naomi Wright, Global Initiatives for Children's Surgery: Birth Defect Group, Tahmina Banu, Kokila Lakhoo
{"title":"Antenatal diagnosis of congenital surgical anomalies: A call for wider use in low- and middle-income countries","authors":"Nilesh Tank, Benjamin Martin, Naomi Wright, Global Initiatives for Children's Surgery: Birth Defect Group, Tahmina Banu, Kokila Lakhoo","doi":"10.1111/cga.12485","DOIUrl":"10.1111/cga.12485","url":null,"abstract":"","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2022-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10481643","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Shota Hiroshima, Chihiro Taniguchi, Mika Inoue, Hirohito Sone, Keisuke Nagasaki
{"title":"Two cases of 22q11.2 deletion syndrome with decreased serum calcium during recovery following thyrotoxicosis","authors":"Shota Hiroshima, Chihiro Taniguchi, Mika Inoue, Hirohito Sone, Keisuke Nagasaki","doi":"10.1111/cga.12486","DOIUrl":"10.1111/cga.12486","url":null,"abstract":"The most common chromosomal microdeletion syndrome, 22q11.2 deletion syndrome (22qDS), mainly manifests as hypoparathyroidism, which varies from overt to subclinical presentation, and is often asymptomatic. 1 Parathyroid hormone (PTH) reserve, the response of PTH to the sodium bicarbonate infusion test, is reduced in many patients with 22qDS having normocalcemia. 2 22qDS is associated with high-autoimmune thyroid disease inci-dence. 3 Hypercalcemia due to thyrotoxicosis is rarely reported, which means that thyroid hormones affect calcium (Ca) metabolism. 4 22qDS hypocalcemia thyrotoxicosis 5 hypocalcemia and during thyrotoxicosis.","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2022-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10534162","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Saadet Erdem, Zeliha Fazliogullari, Ahmet Ural, Ahmet Kagan Karabulut, Nadire Unver Dogan
{"title":"External ear anatomy and variations in neonates","authors":"Saadet Erdem, Zeliha Fazliogullari, Ahmet Ural, Ahmet Kagan Karabulut, Nadire Unver Dogan","doi":"10.1111/cga.12483","DOIUrl":"10.1111/cga.12483","url":null,"abstract":"<p>It is aesthetically important that the auricle has a natural and beautiful shape. The sizes, position and symmetry of normal auricle are used for different purposes in different disciplines. A deformation in the auricle of neonates and its size or location on the face may indicate a possible anomaly. The aim of this study is to investigate the normal sizes, anomaly types, anomaly rates and the relationship between hearing screening test results and auricular anomaly of the neonatal auricle. The length, width, angle, and distance measurements of the auricle were made in neonates (<i>n</i> = 550). Anomaly types of auricle were observed. Goniometer was used to measure angles; digital caliper and ruler were used to measure lengths. Anomalies were detected by the method of observation. In the morphometric data of the neonatal auricle, differences were determined in length and width values in terms of gender. Various types of anomalies were observed in the right ear of 96 participants and in the left ear of 103 participants. Normal auricle size, position and symmetry are important for surgical reconstructions, hearing aid design, producing data banks on gender, age and ethnicity, and providing reference information for multiple diagnostic and forensic procedures. Recognition and early detection of auricular anomalies play an essential role in clinical diagnosis and their correction with special devices.</p>","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2022-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40396778","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Steven Tessier, Jennifer Canning, Santo Longo, Dianne Jacobetz
{"title":"Intra-abdominal umbilical vein varix in a neonate with polysyndactyly","authors":"Steven Tessier, Jennifer Canning, Santo Longo, Dianne Jacobetz","doi":"10.1111/cga.12484","DOIUrl":"10.1111/cga.12484","url":null,"abstract":"An umbilical vein varix (UVV) was first recognized as a malformation by Konstantinova in autopsies of aborted fetuses, stillborn infants, and newborn deaths. This malformation is a focal dilatation most commonly located along the intra-abdominal portion (IUVV) of the umbilical vein. Its etiology is unknown. The incidence is approximately 0.4–1.1 cases/1000 births. The rarity of cases has limited development of a firm consensus on anteand postnatal management. However, accepted diagnostic prenatal ultrasound criteria include venous dilatation of >9 mm, or venous dilatation diameter exceeding 50% of the adjacent non-dilated umbilical vein. While fetal and","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2022-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40394914","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"A case of 46,XY disorders of sex development with congenital heart disease caused by a GATA4 variant","authors":"Yui Shichiri, Yoshimi Kato, Hidehito Inagaki, Takema Kato, Naoko Ishihara, Masafumi Miyata, Hiroko Boda, Arisa Kojima, Misa Miyake, Hiroki Kurahashi","doi":"10.1111/cga.12482","DOIUrl":"10.1111/cga.12482","url":null,"abstract":"<p><i>GATA4</i> is known to be a causative gene for congenital heart disease, but has also now been associated with disorders of sexual development (DSD). We here report a pathogenic variant of <i>GATA4</i> in a 46,XY DSD patient with an atrial septal defect, identified by whole-exome sequencing to be c.487C>T (p.Pro163Ser). This mutation resulted in reduced transcriptional activity of the downstream gene. When we compared this transcriptional activity level with other <i>GATA4</i> variants, those that had been identified in patients with cardiac defects and DSD showed less activity than those in patients with cardiac defect only. This suggests that the normal development of the heart requires more strict regulation of <i>GATA4</i> transcription than testicular development. Further, when the different variants were co-expressed with wild-type, the transcriptional activities were consistently lower than would be expected from an additive effect, suggesting a dominant-negative impact of the variant via dimer formation of the GATA4 protein. Since these pathogenic <i>GATA4</i> variants are occasionally identified in healthy parents, a threshold model of quantitative traits may explain the cardiac defect or DSD phenotypes that they cause.</p>","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2022-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40398981","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Current activities between the DevTox Berlin workshops and the Japanese Teratology Society Terminology Committee in harmonizing the terminology for classifying anomalies in laboratory animals in developmental toxicity studies: Report from the Satellite Workshop of the 60th Annual Meeting of the Japanese Teratology Society","authors":"Makiko Kuwagata, Akira Sato, Yuko Izumi, Kazuhiro Chihara, Hanako Yamasaki, Yoshihiro Katsumata, Yojiro Ooshima, Jochen Buschmann, Michio Fujiwara","doi":"10.1111/cga.12480","DOIUrl":"https://doi.org/10.1111/cga.12480","url":null,"abstract":"<p>In recent years, the Japanese Teratology Society has worked with the DevTox Berlin Workshops project to provide internationally consistent terminology for teratogenic effects. This paper summarizes a satellite workshop of the 60th Annual Meeting of the Japanese Teratology Society, which was entitled “Current activities between DevTox Berlin Workshops to develop a harmonized terminology for classifying anomalies in laboratory animals in developmental toxicity studies.” The Japanese Teratology Society - Laboratory Animal Terminology Project (JTS-LATP) reviewed “gray zone” anomalies and focused on developing criteria for reclassifying a large number of gray zone anomalies to clarify them and to make it easier to judge fetal categories. This effort will lead to international agreement, based on shared conceptions. The present article aimed to provide the reader with a summary of the issues discussed at the 2020 satellite meeting, which included discussions on open issues from the DevTox Berlin Workshops, ongoing work by the JTS-LATP on gray zone (GZ) anomalies, current industrial concerns, and future challenges.</p>","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2022-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"137777134","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Critical appraisal of droplet digital polymerase chain reaction application for noninvasive prenatal testing","authors":"Dolat Singh Shekhawat, Charu Sharma, Kuldeep Singh, Pratibha Singh, Abhishek Bhardwaj, Payal Patwa","doi":"10.1111/cga.12481","DOIUrl":"10.1111/cga.12481","url":null,"abstract":"<p>Maternal-fetal medicine (FM) is currently a highly demanding branch and is gaining importance as increasing number of genetic disorders rise in incidence. Prenatal testing helps to detect such abnormalities that could affect the health status of the developing fetus like birth defects or genetic disorders. Considering the rising trend of genetic disorders, there is a need for a highly sensitive way of noninvasive prenatal testing (NIPT) that may reduce the incidence of unnecessary invasive procedures and iatrogenic fetal loss. The concept of NIPT for screening of genetic disorders is continuously evolving over the last two decades and multiple techniques have come up to utilize this in the field of FM. The crucial factor which decides the accuracy of NIPS is cell free fetal DNA (cffDNA) that is present in extremely low fraction (10%–15%) in the maternal plasma. Among the available methods, the next generation sequencing (NGS) is considered as the gold standard. However, the higher cost diminishes its utility in low-resource settings. Droplet digital Polymerase chain reaction (ddPCR), a type of digital PCR is a novel technique that is frugal, equally sensitive, less labor intensive, less time-consuming and plain algorithm dependent method for detecting cffDNA fraction. Considering these impressive attributes of ddPCR, we decided to critically review the existing literature on ddPCR for NIPT whilst highlighting the clinical utility, challenges and its advantages over NGS.</p>","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2022-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80827503","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}