Biomedical subjects

Fernand Daffos

Publications and source records attributed to Fernand Daffos.

4 recordsLinked to original sources

PubMed2004

Oto-onycho-peroneal syndrome: further delineation and first fetal report.

We report on the sixth case and first fetal description of oto-onycho-peroneal syndrome (MIM 259780). This entity consists in the association of ear anomalies (-oto), hypoplastic nails (-onycho), hypoplastic or absent fibulae (-peroneal), and shoulder anomalies. Described for the first time by Leiba et al. [1975: Birth Defects 11:67-73] in a male patient, coined by Pfeiffer [1982: Eur J Pediatr 138:317-320], and confirmed by Devriendt et al. [1998: J Med Genet 35:508-509] this condition is most likely autosomal recessive, given the occurrence in sibs of both sexes with normal parents.

Abnormalities, Multiple↗

PubMed2004

Alphafoetoprotein and acetylcholinesterase in amniotic fluid as a factor suggesting fetal skin and nerve lesions in a case of congenital varicella syndrome.

BACKGROUND: Prenatal care of pregnant women exposed to varicella skin rash during the first half of pregnancy remains a frequent concern in countries that do not have access to systematic vaccination. The frequency of maternofetal transmission is low. Ultrasound is the usual tool for prenatal survey of exposed fetuses. But many anomalies due to VZV infection are not accessible to ultrasound alone. CASE REPORT: We review a case in which the diagnosis of fetal infection suspected due to transient fetal bowel hyperechogenicity was confirmed in amniotic fluid by molecular biology (PCR). RESULTS: An unusual elevation of alphafoetoprotein in maternal blood and in amniotic fluid was associated with inguinal skin, muscular and nerve destruction. CONCLUSION: In fetuses diagnosed with in utero varicella infection, in addition to a precise diagnosis and follow-up, we suggest that elevated AFP levels in maternal blood and amniotic fluid together with the presence of acetylcholinesterase in amniotic fluid may be related to lesion of fetal skin and nerves.

Acetylcholinesterase↗

PubMed2003

[Fetal hemostasis].

Explore the source record for details and available documents.

Child Development↗

PubMedDate not supplied

Prenatal diagnosis of zygosity by fetal DNA analysis, a contribution to the management of multiple pregnancies. A series of 31 cases.

OBJECTIVE: To evaluate the contribution of prenatal diagnosis of zygosity by fetal DNA analysis to the management of multiple pregnancies. METHODS: Between March 1999 and March 2000, 31 same-sex multiple pregnancies, were referred to our Institute during their second trimester to have amniocentesis done. Fetal DNA variants were studied in addition to karyotype. The main indications for amniocentesis were fetal growth discordance, fetal malformations or selective pregnancy termination. Zygosity results were compared to the first-trimester ultrasound diagnosis. RESULTS: 21 out of the 31 multiple pregnancies were dizygous, and 10 out of the 31 pregnancies were monozygous. First-trimester ultrasound provided information on chorionicity only in 24 out of the 31 cases (77%). Of these 24 reports, 21 proved to be correct (87.5%). Moreover, in 2 cases among 14 pregnancies with growth discordance, DNA analysis ruled out a twin-to-twin transfusion syndrome, while ultrasound could not yield a conclusion. In 2 twin pregnancies with fetal malformations affecting one of the fetuses, DNA analysis made it possible to assess the risk for the other twin. In the 5 cases leading to selective termination, prenatal diagnosis of zygosity had a decisive value for the surviving fetus. CONCLUSION: Fetal DNA analysis is a simple and highly useful test for prenatal diagnosis of zygosity in the management of complicated multiple pregnancies.

Amniocentesis↗