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. 2006 Sep;26(9):814-8.
doi: 10.1002/pd.1509.

Prenatal diagnosis of some metabolic diseases using early amniotic fluid samples: report of a 15 years, experience

B Chadefaux-Vekemans  1 , D Rabier, N Cadoudal, A Lescoat, A Chabli, J Aupetit, Y Dumez, J F Oury
Affiliations

Prenatal diagnosis of some metabolic diseases using early amniotic fluid samples: report of a 15 years, experience

B Chadefaux-Vekemans et al. Prenat Diagn. 2006 Sep.

Abstract

Background: In the present study, we report the results of 132 prenatal diagnoses performed on chorionic villi and cell-free amniotic fluid obtained simultaneously at 12-13 weeks of gestation. In addition, we report the result of 59 prenatal diagnoses performed at 12-13th week using amniotic fluid only.

Methods and results: A total of one fetal loss (1/191) was observed when a sample of amniotic fluid was obtained at around 12-13 weeks, whereas three losses (3/82) were observed after midtrimester amniocentesis. We attribute this finding to the fact that only a very small volume of amniotic fluid was sampled using a very small needle.

Conclusion: From these data it appears that when a couple is facing a high risk of recurrence of some metabolic diseases, the study of chorionic villus and amniotic fluid sampled simultaneously offers a safe and reliable method of early prenatal diagnosis.

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