Pre-Natal CMT 1A French research

[Guest guest]

(Abstract of a new Article on PreNatal CMT 1A from French research)

FROM: Eur J Hum Genet 2002 May;10(5):297-302

Prenatal detection of the 17p11.2 duplication in Charcot-Marie-Tooth

disease type 1A: necessity of a multidisciplinary approach for

heterogeneous disorders.

Bernard R, Boyer A, Negre P, Malzac P, Latour P, Vandenberghe A, Philip

N, Levy N.

Departement de Genetique Medicale, Hopital d'enfants de la Timone,

13385 Marseille Cedex 05, France.

ABSTRACT:

Charcot-Marie-Tooth (CMT) disease is a typical example of a clinically

and genetically heterogeneous disorder and, in most cases, is dominantly

inherited and caused by a 1.5 megabase duplication on chromosome 17p11.2

containing the PMP22 gene. This is a non-lethal disease with a wide spectrum

of severity, from asymptomatism to severe motor and sensory disability.

Unpredictable degree of disability is usually the reason why prenatal

diagnosis is required and must be addressed. Molecular procedures such

as the use of polymorphic non microsatellite STRs, allowing very fast

and reliable results even when requiring a gene dosage interpretation are

now available and have been recently validated in post-natal diagnosis.

Our results indicate that this approach is also the best-adapted method

in case of prenatal diagnosis.

Nevertheless, ethical considerations raised by prenatal diagnosis in CMT

and ore generally in non-lethal disorders remain to be actively considered.

Here, we present our experience in genetic counselling, and address the

psychological issues for 7 CMT at risk pregnancies. In five cases, a

CMT1A duplication was evidenced; pregnancy was terminated in four of these

cases and the parents from one affected foetus decided to pursue the

pregnancy.

doi:10.1038/sj.ejhg.5200804

PMID: 12082504 [PubMed - in process]