Prenatal Ultrasound Analysis of Umbilical‐Portal‐Systemic Venous Shunts Concurrent With Trisomy 21
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Ultrasound in Medicine"
DOI: 10.1002/jum.15507
Abstract: A classification termed umbilical‐portal‐systemic venous shunt (UPSVS) for an abnormal umbilical vein (UV), portal vein (PV), and ductus venosus (DV) was proposed recently. According to this classification, there are 3 types of UPSVSs: types I,… read more here.
Keywords: prenatal ultrasound; systemic venous; ultrasound analysis; portal systemic ... See more keywords
Prenatal ultrasound findings in Koolen‐de Vries foetuses: Central nervous system anomalies are frequent markers of this syndrome
Sign Up to like & getrecommendations! Published in 2021 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1649
Abstract: Prenatal diagnoses of microdeletion syndromes without ultrasound findings in the first and second trimester are always difficult. The objective of this study is to report the prenatal ultrasound findings in four foetuses diagnosed with 17q21.31… read more here.
Keywords: ultrasound findings; koolen vries; prenatal ultrasound; vries foetuses ... See more keywords
What prenatal ultrasound features are predictable of complex or vanishing gastroschisis? A retrospective study
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DOI: 10.1002/pd.4984
Abstract: To evaluate prenatal ultrasound parameters as prognostic factors for complex and vanishing gastroschisis. read more here.
Keywords: prenatal ultrasound; features predictable; vanishing gastroschisis; complex vanishing ... See more keywords
Microvillus inclusion disease with prenatal ultrasound findings and postpartum confirmed
Sign Up to like & getrecommendations! Published in 2022 at "Prenatal Diagnosis"
DOI: 10.1002/pd.6013
Abstract: A 31‐year‐old woman at 32 weeks of gestation was referred to our hospital for polyhydramnios and fetal small bowel dilatation (Movie S1). The stomach was normal in size and location (Figure 1). Amniotic fluid electrolytes… read more here.
Keywords: findings postpartum; ultrasound findings; prenatal ultrasound; microvillus inclusion ... See more keywords
Genetic diagnosis of common fetal renal abnormalities detected on prenatal ultrasound
Sign Up to like & getrecommendations! Published in 2022 at "Prenatal Diagnosis"
DOI: 10.1002/pd.6154
Abstract: This retrospective study aimed to investigate the correlations between phenotypes of fetal renal abnormalities on prenatal ultrasound and genetic aetiologies detected using chromosomal microarray analysis (CMA) and whole‐exome sequencing (WES). read more here.
Keywords: renal abnormalities; genetic diagnosis; ultrasound genetic; prenatal ultrasound ... See more keywords
Prenatal ultrasound findings associated with PIGW variants: One more piece in the FRYNS syndrome puzzle? PIGW‐related prenatal findings
Sign Up to like & getrecommendations! Published in 2022 at "Prenatal Diagnosis"
DOI: 10.1002/pd.6204
Abstract: We describe the prenatal ultrasound findings and autopsy of three fetuses with multiple congenital anomalies (MCA) whose diagnostic workup suggested the same genetic etiology. We conducted a literature review to corroborate the molecular results and… read more here.
Keywords: associated pigw; ultrasound findings; variants one; pigw variants ... See more keywords
Identification of micrognathia by prenatal ultrasound may improve timely diagnosis and management of infants with Robin sequence
Sign Up to like & getrecommendations! Published in 2023 at "Prenatal Diagnosis"
DOI: 10.1002/pd.6317
Abstract: Robin sequence (RS) is a craniofacial anomaly characterized by small jaw (micrognathia) with associated tongue base airway obstruction. With advances in fetal imaging, micrognathia may be detected prenatally. This study aims to determine if prenatal… read more here.
Keywords: identification micrognathia; robin sequence; sequence; prenatal ultrasound ... See more keywords
Predictive value of prenatal ultrasound in foetal intraabdominal cystic lesions and evaluation of perinatal outcomes: a single-centre study results
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Obstetrics and Gynaecology"
DOI: 10.1080/01443615.2022.2081791
Abstract: Abstract The prenatal diagnosis of intra-abdominal cystic lesions is relatively common and it can be due to a wide variety of clinical conditions. The aims of this study were to determine the accuracy of the… read more here.
Keywords: cyst; diagnosis; prenatal ultrasound; cystic lesions ... See more keywords
Agnathia-otocephaly complex diagnosed by prenatal ultrasound: a case report.
Sign Up to like & getrecommendations! Published in 2021 at "Translational pediatrics"
DOI: 10.21037/tp-21-235
Abstract: Agnathia-otocephaly complex (AOC) is a rare and complex craniofacial malformation characterized by mandibular hypoplasia or agnathia, auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. It can occur alone or in combination with forebrain… read more here.
Keywords: prenatal ultrasound; case; report; agnathia otocephaly ... See more keywords
Prenatal ultrasound diagnosis of pelvic tumors. I. Sacrococcygeal teratomas. Literature review
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DOI: 10.21516/2413-1458-2019-18-2-111-119
Abstract: Literature review on ultrasound prenatal diagnosis of sacrococcygeal teratomas, including complications, prognosis, management and time and mode of delivery is presented. Ultrasound images of different types of sacrococcygeal teratomas are demonstrated. read more here.
Keywords: sacrococcygeal teratomas; prenatal ultrasound; literature review; diagnosis ... See more keywords
The case of prenatal ultrasound diagnosis of EEC syndrome (Ectrodactyly, Ectodermal dysplasia, Cleft lip/palate syndrome) at 14 weeks of gestation
Sign Up to like & getrecommendations! Published in 2019 at "prenatal diagnosis"
DOI: 10.21516/2413-1458-2019-18-3-249-252
Abstract: Case of prenatal ultrasound diagnosis of EEC syndrome at 14 weeks of gestation is presented. A rare feature of the case was the ectrodactyly of all limbs. read more here.
Keywords: case prenatal; prenatal ultrasound; diagnosis; ultrasound diagnosis ... See more keywords