Literature DB >> 22439035

Prenatal diagnosis of limb abnormalities: role of fetal ultrasonography.

Santina Ermito1, Angela Dinatale, Sabina Carrara, Alessandro Cavaliere, Laura Imbruglia, Stefania Recupero.   

Abstract

Fetal ultrasonografy is the most important tool to provide prenatal diagnosis of fetal anomalies. The detection of limb abnormalities may be a complex problem if the correct diagnostic approch is not established. A careful description of the abnormality using the rigth nomenclature is the first step. Looking for other associated abnormalities is the threshold to suspect chromosomal abnormalities or single gene disorder. According to the patogenic point of view, limb abnormalities may be the result of malformation, deformation, or disruption. The prenatal diagnosis and the management of limb abnormalities involve a multidisciplinary team of ostetrician, radiologist/sonologist, clinical geneticist, neonatologist, and orthopedic surgeons to provide the parents with the information regarding etiology of the disorder, prognosis, option related to the pregnancy and recurrence risk for future pregnancies.The aim of this review is to describe the importance of detailed fetal ultrasonography in prenatal diagnosis of limb abnormalities.

Entities:  

Keywords:  fetal ultrasonography; limb abnormalities; prenatal diagnosis

Year:  2009        PMID: 22439035      PMCID: PMC3279100     

Source DB:  PubMed          Journal:  J Prenat Med        ISSN: 1971-3282


  38 in total

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Review 7.  Inguinal hernia and atrial septal defect in Tel Hashomer camptodactyly syndrome: report of a new case expanding the phenotypic spectrum of the disease.

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Review 8.  Pre- and postnatal diagnosis of limb anomalies: a series of 107 cases.

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Journal:  Korean J Radiol       Date:  2003 Oct-Dec       Impact factor: 3.500

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  7 in total

Review 1.  Genetic determinants of syndactyly: perspectives on pathogenesis and diagnosis.

Authors:  Afraah Cassim; Dineshani Hettiarachchi; Vajira H W Dissanayake
Journal:  Orphanet J Rare Dis       Date:  2022-05-12       Impact factor: 4.303

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Journal:  Prenat Diagn       Date:  2015-01-05       Impact factor: 3.050

3.  First applications of a targeted exome sequencing approach in fetuses with ultrasound abnormalities reveals an important fraction of cases with associated gene defects.

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Review 4.  The Increasing Prevalence in Intersex Variation from Toxicological Dysregulation in Fetal Reproductive Tissue Differentiation and Development by Endocrine-Disrupting Chemicals.

Authors:  Alisa L Rich; Laura M Phipps; Sweta Tiwari; Hemanth Rudraraju; Philip O Dokpesi
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Authors:  Humayun Ahmed; Hossein Akbari; Abdolhasan Emami; Mohammad R Akbari
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6.  Prenatal limb defects: Epidemiologic characteristics and an epidemiologic analysis of risk factors.

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7.  A case of acheiria.

Authors:  Ali Al-Smair; Abdel Rahman M Jaber; Mohammad H Abu-Suailiek; Taghleb Al-Awad; Ahmad Saadeh
Journal:  Radiol Case Rep       Date:  2022-09-30
  7 in total

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