Prenatal diagnosis of some metabolic diseases using early amniotic fluid samples: report of a 15 years, experience.
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.
Chadefaux-Vekemans
B
B
Service de Biochimie B, Groupe Hospitalier Necker-Enfants Malades, Paris, France. bernadette.chadefaux-vekemans@nck.ap-hop-paris.fr
Rabier
D
D
Cadoudal
N
N
Lescoat
A
A
Chabli
A
A
Aupetit
J
J
Dumez
Y
Y
Oury
J F
JF
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