... to in the content or advertisements. 2023 Congenital anomalies Inguinal hernia Perinatal outcome Perineal mass Prenatal diagnosis Prenatal diagnosis of inguinal hernia (IH) is relatively uncommon compared with its prevalence in neonates and children. IH repair is the most frequently performed...

... weight. This clinical relevance equips physicians with current parameters for predicting lethality, offering additional evidence to effectively counsel families. Prenatal diagnosis Skeletal dysplasia Ultrasound Mini-Summary What does this study add to current knowledge...

... aortic arch Mirror image Fetal echocardiography Prenatal diagnosis Mini-Summary What does this study add to current knowledge? Incomplete double aortic arch (DAA) and a right aortic arch with mirror image branching are particularly difficult to distinguish, although measuring the angle...

... (aCGH), aiming to balance between maximum diagnostic yield and minimal detection of variants of uncertain significance (VOUS). Methods: This was a prospective study using data of 2,336 fetuses that underwent invasive prenatal diagnosis, and the samples were analyzed by aCGH. In total, six different aCGH...

... regarding the ultrasound surveillance eligibility for surgery, optimal surgical technique, and the earliest gestational age for an in utero intervention. Acardiac twin Twin reversed arterial perfusion Prenatal diagnosis Fetal therapy Ultrasonography Monochorionic twin pregnancy...

... performance in screening for pPE and should eventually be excluded for the screening or pPE. Screening of pPE should be recommended to all singleton pregnancies as part of routine first trimester screening. Pre-eclampsia First trimester pregnancy Prenatal diagnosis Mini-Summary...

...Elizabeth J. Snyder; Julie S. Moldenhauer; Teresa Victoria Skeletal dysplasias (SDs) are a heterogeneous group of heritable disorders that affect development of bone and cartilage. Because each SD is individually rare and because of the heterogeneity within and among disorders, prenatal diagnosis...

... disease-causing genes of primary microcephaly. SASS6 Primary microcephaly Corpus callosum agenesis Prenatal diagnosis Primary microcephaly is known for its complex etiologies, including both environmental and genetic factors. SASS6 is one of the rarest disease-causing genes...

... fetal echocardiography may decrease false positive and false negative rates of coarctation of the aorta. This in turn may improve neonatal outcomes, allowing for better allocation of resources and parental bonding. Coarctation of aorta Prenatal diagnosis Fetal echocardiography Mini...

... ]. An initial diagnosis can often be made using radiography, but a CT or magnetic resonance imaging (MRI) is often necessary to evaluate the details of the abnormality. Using the keywords “Sprengel’s deformity, prenatal diagnosis,” we found only four publications in the PubMed database, one of which...

... dataset. What are the main clinical implications? This easy-to-use assessment tool may improve counseling for families expecting a child with a prenatally diagnosed anomaly. VACTERL Congenital anomalies Prenatal diagnosis Prenatal counseling VACTERL is an acronym for a group...

... and gastrointestinal tracts. The prenatal diagnosis of cloacal malformation is imprecise, but the clinical correlation of postnatal findings to prenatal history can help reveal explanations for unusual pathological findings in patients with urogenital abnormalities. Case Presentation: A 21-year-old woman was referred...

... of survival over 2 years [Clin Kidney J. 2012 Feb 1;5(1):56–8]. Prenatal diagnosis of ARRTD is challenging, and diagnosis has only previously been confirmed after postnatal or post-mortem investigation. Case: To the best of our knowledge, we describe the first reported case of utilizing targeted genetic...

... transfusion syndrome Prenatal diagnosis Monochorionic twins This study addresses whether the profile of the needle used for amniotic cavity entry during treatment of twin-to-twin transfusion syndrome plays a role in postoperative complications. We found that Quincke-tip needles had similar rates...

... counseling. Unfortunately, making a prenatal diagnosis of SOD requires visualization and evaluation of the fetal optic nerves, chiasm, and pituitary gland, which is very demanding and not always possible using ultrasound. Fetal MRI has the potential of obtaining high-quality images of the fetal brain...

... have been reported, most at the time of surgery or postmortem with an associated high morbidity and mortality rate. Prenatal diagnosis and optimal management of these rare cases have not been established. Case Presentation: We present a case of HPF diagnosed prenatally by fetal ultrasound and magnetic...

... arterial trunk Prenatal diagnosis What does this study add to current knowledge? The main predictor of mortality is the coexistence of extracardiac or genetic anomalies. In isolated cases, the presence of a dysplastic truncal valve and stenotic flow increase the chances of death...

.... Conclusion: It is crucial to trace pulmonary artery branches in the prenatal diagnosis. Prenatal diagnosis of LPAS will facilitate postnatal care and timely treatment. doctorzshi@163.com 13 09 2022 2 12 2022 12 12 2022 © 2022 S. Karger AG, Basel Copyright / Drug Dosage...

...Pimlak Charoenkwan; Kuntharee Traisrisilp; Supatra Sirichotiyakul; Arunee Phusua; Torpong Sanguansermsri; Theera Tongsong Introduction: Prenatal diagnosis of thalassemia disease was usually based on invasive technique . Noninvasive diagnosis using cell-free fetal DNA (cff-DNA) was described...

... from any ideas, methods, instructions or products referred to in the content or advertisements. 2022 Kabuki syndrome Prenatal diagnosis KMT2D gene KDM6A gene Ultrasound Cleft palate Kabuki syndrome (KS) is a multiple congenital anomaly syndrome with characterized facial...