Results 1 to 10 of about 30,446 (213)
Prenatal ultrasonography of craniofacial abnormalities [PDF]
Craniofacial abnormalities are common. It is important to examine the fetal face and skull Epub ahead of print during prenatal ultrasound examinations because abnormalities of these structures may indicate the presence of other, more subtle anomalies ...
Annisa Shui Lam Mak, Kwok Yin Leung
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The diagnosis of an imperforate anus in female fetuses [PDF]
Imperforate anus is an anomaly caused by a defect in the development of the hindgut during early pregnancy. It is a relatively common congenital malformation and is more common in males.
Hyun Mi Kim +5 more
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Background: We aimed to investigate the efficacy of postnatal ultrasonography in detecting congenital anomalies of the kidneys and urinary tract in term infants without prenatal history of congenital anomalies of the kidneys and urinary tract.
Abdulgani Gulyuz, Mehmet Tekin
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Background: An increase in pathogenic copy number variants (pCNVs) has been recognized to associate with fetal growth restriction (FGR). Here, we aim to explore the application value of chromosomal microarray analysis (CMA) in prenatal diagnosis of FGR ...
Yu'e Chen +8 more
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Prenatal screening for neural tube defects: from maternal serum alpha-fetoprotein to ultrasonography [PDF]
The two main screening tests during pregnancy are those for chromosomal abnormalities and neural tube defects (NTDs). In particular, for NTDs, measurement of maternal serum alpha-fetoprotein (MSAFP) levels early in the second trimester (15–18 weeks of ...
Gwang Jun Kim, Ji Su Seong, Jin A Oh
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Accessory scrotum (AS) is rarely diagnosed antenatally, and its prenatal features remain unknown. Here, we report a case of a prenatally diagnosed accessory scrotum with perineal lipoma.
Koichi Deguchi, MD +10 more
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Pentalogy of Cantrell: A case report of probable pentalogy of Cantrell in a full-term neonate [PDF]
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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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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Prenatal Diagnosis of Galen Vein Aneurysm Using Ultrasonography and Magnetic Resonance Imaging and Perinatal and LongTerm Neurological Outcomes: A Case Series [PDF]
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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Update on the Genetics and Prenatal Ultrasound Features of Williams-Beuren Syndrome [PDF]
A 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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