title: Prenatal diagnosis of some metabolic diseases using early amniotic fluid samples: report of a 15 years, experience.
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.
  
  
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Service de Biochimie B, Groupe Hospitalier Necker-Enfants Malades, Paris, France. bernadette.chadefaux-vekemans@nck.ap-hop-paris.fr
authors.forename: B
authors.initials: B
authors.lastname: Chadefaux-Vekemans
authors.forename: D
authors.initials: D
authors.lastname: Rabier
authors.forename: N
authors.initials: N
authors.lastname: Cadoudal
authors.forename: A
authors.initials: A
authors.lastname: Lescoat
authors.forename: A
authors.initials: A
authors.lastname: Chabli
authors.forename: J
authors.initials: J
authors.lastname: Aupetit
authors.forename: Y
authors.initials: Y
authors.lastname: Dumez
authors.forename: J F
authors.initials: JF
authors.lastname: Oury
mesh_terms: D000022:Abortion, Spontaneous / Q000209:etiology; D000649:Amniocentesis / Q000009:adverse effects; D015193:Chorionic Villi Sampling; D005260:Female; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D011247:Pregnancy; D011256:Pregnancy Outcome; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis