Identification of two novel mutations and long-term follow-up in abetalipoproteinemia: a report of four cases.

Abetalipoproteinemia (ABL; OMIM 200100) is an inherited disorder resulting from mutations in the microsomal triglyceride transfer protein gene and characterized by a major lipid malabsorption leading to extremely low plasma cholesterol and triglyceride levels and fat-soluble vitamins deficiencies. We report two novel mutations (c.59del17 and c.

[Improved reliability of critical data exchange between the biological laboratory and clinical centres. Type of data to transfer and identification of the most relevant tools].

The reliability of the transfer of critical data between the biological laboratory and the clinical centres has to be reassessed. We have a legal constraint (GBEA and best practices) to make sure that the appropriate alert is issued for severe and urgent cases. In this paper, we present a study of the performances of data transfer tools, such as the comparison between regular phone and up to date available means like in line printers and network terminals.

Second-trimester Down syndrome maternal serum screening in twin pregnancies: impact of chorionicity.

Objective: To evaluate the diagnostic value of second-trimester maternal serum screening for Down syndrome in twin pregnancies.

Method: On the basis of a prospective study of second-trimester maternal serum screening, we studied the distribution of alpha-fetoprotein (AFP) and free ss hCG in 3043 twin pregnancies with known outcome. There were 1561 dichorionic and 244 monochorionic pregnancies.

Second trimester trisomy 21 maternal serum marker screening. Results of a countrywide study of 854,902 patients.

Objectives: In France, maternal serum marker screening is governed by specific legislation. We conducted a study of the countrywide trisomy 21 screening based on second trimester maternal serum markers.

Methods: We reviewed the medical records of 854,902 patients prospectively screened for second trimester maternal serum markers in the 60 authorized laboratories over the two-year period 1997-1998.