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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Real-time virtual sonography in gynecology & obstetrics. literature's analysis and case series [PDF]
, 2018 Fusion Imaging is a latest generation diagnostic technique, designed to combine ultrasonography with a second-tier technique such as magnetic resonance imaging and computer tomography.
Bellati, F +6 more
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Taiwanese Journal of Obstetrics & Gynecology, 2019 Objective: We present a case with prenatal diagnosis of Treacher-Collins syndrome in which micrognathia and other facial and ear abnormalities were described using a three- and four-dimensional (3D/4D) ultrasonography in utero. Case report: A 39-year-old
Sayo Kubo +6 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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PROGRESS IN APPLICATION OF PRENATAL ULTRASONOGRAPHY IN THE DIAGNOSIS OF SPINA BIFIDA [PDF]
精准医学杂志, 2023 Prenatal ultrasound screening plays an important role in eugenics, and the related techniques are developing rapidly. Fetal spina bifida screening is a required item for prenatal care in pregnant women. However, there is still room for improvement in its
LAI Huangyi, SUN Youxiang, JIANG Wei
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Fetal heterotaxy with tricuspid atresia, pulmonary atresia, and isomerism of the right atrial appendages at 22 weeks. [PDF]
, 2013 We report the accurate prenatal diagnosis at 22 weeks gestation of right atrial isomerism in association with tricuspid atresia. Several distinctive sonographic features of isomerism of the right atrial appendages were present in this fetus: complex ...
Richardson, Randy R +3 more
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Microcephaly and macrocephaly. A study on anthropometric and clinical data from 308 subjects [PDF]
, 2019 Head circumference is the auxological parameter that most correlates with developmental anomalies in childhood. Head circumference (HC) two standard deviations (SD) below or above the mean defines microcephaly and macrocephaly, respectively.
Corsello G. +7 more
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Apple-peel atresia presenting as foetal intestinal obstruction
African Journal of Paediatric Surgery, 2011 Apple-peel atresia or Type 3 jejuno-ileal atresia (JIA) is an uncommon cause of foetal intestinal obstruction. Bowel obstruction in the foetus is diagnosed on the prenatal ultrasonography only in 50% cases.
Ashok Yadavrao Kshirsagar +3 more
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Case report: targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia Osteocraniostenosis. [PDF]
, 2020 BACKGROUND: Osteocraniostenosis (OCS) is a rare genetic disorder characterised by premature closure of cranial sutures, gracile bones and perinatal lethality. Previously, diagnosis has only been possible postnatally on clinical and radiological features.
Barker, R +5 more
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Prenatal Ultrasound Diagnosis of Fetal Arteriovenous Malformations [PDF]
Zhongguo quanke yixue, 2022 Background Fetal arteriovenous malformations may occur in all parts of the body and are mainly diagnosed by color Doppler ultrasound. However, there are few reports at home and abroad on the types of arteriovenous shunts explored by prenatal ultrasound ...
Xiaotan TAN, Hongxia YUAN
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