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1.
J Prenat Med ; 4(3): 35-42, 2010 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-22439059

RESUMO

Shoulder Dystocia (SD) is the nightmare of obstetricians. Despite its low incidence, SD still represents a huge risk of morbidity for both the mother and fetus. Even though several studies showed the existence of both major and minor risk factors that may complicate a delivery, SD remains an unpreventable and unpredictable obstetric emergency. When it occurs, SD is difficult to manage due to the fact that there are not univocal algorithms for its management.Nevertheless, even if it is appropriately managed, SD is one of the most litigated cause in obstetrics, because it is frequently associated with permanent birth-related injuries and mother complications.All the physicians should be prepared to manage this obstetric emergency by attending periodic training, even if SD is difficult to teach for its rare occurrence and because in clinical practice it is often handled by experienced obstetricians.THE PURPOSE OF THIS STUDY IS TO REVIEW THE LITERATURE CONCERNING THE EVERLASTING PROBLEMS OF SD: identification of risk factors for the early detection of delivery at high risk of SD and a systematic management of this terrifying obstetric emergency in order to avoid the subsequent health, medico-legal and economic complications.

2.
J Prenat Med ; 4(3): 45-8, 2010 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-22439061

RESUMO

OBJECTIVE: The aim of the study is to evaluate the role of Denaturing High Performance Liquid Chromatography (DHPLC) in the second level screening of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. METHODS: A 9-month prospective study, between June 2008 and March 2009 at Artemisia Fetal Medical Centre, included 3829 samples of amniotic fluid collected from women undergoing mid-trimester amniocentesis.The genetic diagnosis of CF was based on research of the main mutations of the CFTR gene on fetal DNA extracted from the amniocytes, (first level screening) using different commercial diagnostic systems. A second level screening using DHPLC, on the amniotic fluid and on a blood sample from the couple, was offered in case of fetuses heterozygous at first level screening. RESULTS: Of 3829 fetuses, 134 were found to be positive, 129 heterozygous and 5 affected. Of the 129 couples, following appropriate genetic counselling, 53 requested a second level screening. Through the use of DHPLC, 44 couples were found to be negative, and in nine couples, nine rare mutations were identified. CONCLUSIONS: The first level screening can be useful to evidence up to 75% of the CF mutations. The second level screening can identify a further 10% of mutant alleles. DHPLC was found to be a reliable and specific method for the rapid identification of the rare CFTR mutations which were not revealed in initial first level screening.

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