Chorionic villus sampling
نویسنده
چکیده
Chorionic villus sampling has gained importance as a tool for early cytogenetic diagnosis with a shift toward first trimester screening. First trimester screening using nuchal translucency and biomarkers is effective for screening. Chorionic villus sampling generally is performed at 10-12 weeks by either the transcervical or transabdominal approach. There are two methods of analysis; the direct method and the culture method. While the direct method may prevent maternal cell contamination, the culture method may be more representative of the true fetal karyotype. There is a concern for mosaicism which occurs in approximately 1% of cases, and mosaic results require genetic counseling and follow-up amniocentesis or fetal blood sampling. In terms of complications, procedure-related pregnancy loss rates may be the same as those for amniocentesis when undertaken in experienced centers. When the procedure is performed after 9 weeks gestation, the risk of limb reduction is not greater than the risk in the general population. At present, chorionic villus sampling is the gold standard method for early fetal karyotyping; however, we anticipate that improvements in noninvasive prenatal testing methods, such as cell free fetal DNA testing, will reduce the need for invasive procedures in the near future.
منابع مشابه
A cost-effectiveness analysis of amniocentesis and chorionic villus sampling for prenatal genetic testing.
Amniocentesis and chorionic villus sampling are tests for the prenatal diagnosis of cytogenetic abnormalities. We calculated the incremental costs per abnormal birth averted, and the incremental costs per quality-adjusted outcome, of amniocentesis and chorionic villus sampling performed for the indication of maternal age. Probabilities were obtained from the literature, and direct medical costs...
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Background: Aim: To review the usefulness of chorionic villus sampling for prenatal diagnosis of thalassaemia with focus on risk of miscarriage and stillbirth in Indian women and thus provide local data for counseling the prospective parents in similar situation. Methods: This retrospective study reviewed the pregnancy outcome of 362 patients with thalassaemia who underwent transabdominal chori...
متن کاملEffect of chorionic villus sampling and early pregnancy counselling on uptake of prenatal diagnosis.
An early pregnancy counselling clinic was introduced to improve the uptake of prenatal diagnosis and to offer chorionic villus sampling to women aged 38 and over by their expected date of delivery. Ninety eight (62%) unselected older mothers were seen before 11 weeks' gestation, and 23 (32%) of those with viable pregnancies elected to undergo chorionic villus sampling compared with 38 (52%) ele...
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Background and aim: Beta thalassemia is one of the most common hereditary disorders in Iran. The aim of this study is to improve the quality of life of couples with thalassemia and prenatal diagnosis of thalassemia major through the chorionic villus sampling technique. Methods: This prospective study was conducted on couples suffering from thalassemia minor who referred to Narges Genetics Labo...
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