Pentalogy of Cantrell: A case report of probable pentalogy of Cantrell in a full-term neonate [PDF]
Iranian Journal of Neonatology, 2021 Background: Pentalogy of Cantrell (PC) is an extremely rare congenital anomaly which was first described in 1985. The incidence of the PC has been reported to vary from 5.5-7.9 cases per million live births.
Mina Khosravifar +2 more
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Frontiers in Pediatrics, 2023 ObjectiveTo systematically verify the accuracy of a four-step prenatal ultrasonography in diagnosing fetal total anomalous pulmonary venous connection (TAPVC).MethodsA total of 62 TAPVC fetuses received prenatal ultrasonography and were confirmed by ...
Xiaoying Xue +9 more
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Update on the Genetics and Prenatal Ultrasound Features of Williams-Beuren Syndrome [PDF]
Advanced Ultrasound in Diagnosis and TherapyA heterozygous microdeletion of chromosome 7q11.23 causes the rare neuropsychiatric developmental disorder Williams-Beuren Syndrome. The syndrome is more difficult to diagnose before birth than after, even though the syndrome often manifests prenatally ...
Shanqing Li, MM, Rong Hu, MM, Xijing Liu, MD, Fan Yang, MD
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Clinical Manifestations in Infants with Symptomatic Meconium Peritonitis
Pediatrics and Neonatology, 2009 Meconium peritonitis (MP) develops when bowel perforation occurs in utero or soon after birth, resulting in leakage of meconium into the peritoneal cavity.
Ming-Horng Tsai +4 more
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Prenatal Diagnosis of Galen Vein Aneurysm Using Ultrasonography and Magnetic Resonance Imaging and Perinatal and LongTerm Neurological Outcomes: A Case Series [PDF]
Revista Brasileira de Ginecologia e Obstetrícia, 2017 Objective To describe the prenatal diagnosis of Galen vein aneurysm (GVA) based on ultrasonography and magnetic resonance imaging (MRI) in a series of cases, as well as its postnatal outcomes and follow-up until 4 years of age. Methods A retrospective
Pedro Pires +5 more
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Anais Brasileiros de Dermatologia, 2023 Background Harlequin ichthyosis (HI) is a rare skin disorder with extremely high lethality due to a mutation of the ABCA12 gene. Because of its rarity and the often-late onset, prenatal screening for HI is extremely difficult, and most pregnant women ...
Zesi Liu, Chunli Jing
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Prenatal Diagnosis of Goldenhar Syndrome: A Rare Case Report [PDF]
Studies in Multidisciplinary Medical ResearchGoldenhar syndrome, also known as oculo-auriculo-vertebral (OAV) spectrum, is a rare congenital disorder resulting from abnormal development of the first and second branchial arches, characterized by a constellation of craniofacial, ocular, auricular ...
Reza Gerami +7 more
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Prenatal diagnostic performance of combined ultrasonography and magnetic resonance imaging for placenta accreta in pregnant women [PDF]
精准医学杂志Objective To evaluate the prenatal diagnostic performance of combined ultrasonography and magnetic resonance imaging (MRI) for placenta accreta in pregnant women.
ZHANG Jing, YANG Zhitao, WU Shihao, WANG Qianqian
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Meconium peritonitis: Prenatal diagnosis, postnatal management and outcome [PDF]
, 2005 Objectives: Prenatal ultrasonography (USS) is a routine screening test for fetal abnormalities. Its accuracy for detecting meconium peritonitis (MP), which may carry high mortality, is important for prenatal counseling.
Tam, PKH +4 more
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Prenatal ultrasound screening for fetal anomalies and outcomes in high-risk pregnancies due to maternal HIV infection : a retrospective study [PDF]
, 2013 Objective: To assess the prevalence of prenatal screening and of adverse outcome in high-risk pregnancies due to maternal HIV infection. Study design: The prevalence of prenatal screening in 330 pregnancies of HIV-positive women attending the ...
Louwen, Frank +6 more
core +1 more source