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Strategies for prenatal and preimplantation genetic diagnosis in Marfan syndrome (MFS).

(2002) PRENATAL DIAGNOSIS. 22(1). p.22-28
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Abstract
Marfan syndrome (MFS) is an autosomal dominant disorder with a prevalence of 2-3 per 10 000 individuals. Symptoms range from skeletal overgrowth, cutaneous striae to ectopia lentis and aortic dilatation leading to dissection. Prenatal diagnosis was until recently mainly performed in familial cases by linkage analysis, However, mutation detection has become available With thorough screening methods. The phenotypic variability observed in MFS makes reproductive options difficult, as molecular diagnosis cannot predict clinical severity of the disease. Data are presented on 15 prenatal and/or preimplantation genetic diagnoses (PGD) in nine families, originating from Belgium, the Netherlands, Spain and France. In four families data from linkage analysis were used, Whereas in five other families the causative FBN1 mutation was characterised. Four PGD cycles in two couples led to one ongoing pregnancy. In addition, two amniocenteses and nine chorionic villus (CV) samplings were performed. In five pregnancies an affected fetus was diagnosed. In one of them, the couple chose to continue the pregnancy and an affected child was burn, whereas the other four couples decided to terminate the pregnancy. It is expected that the greater availability of mutation testing of the FBN1 gene will increase requests for prenatal diagnosis. PGD appears to be an acceptable alternative for couples facing ethical reproductive dilemmas.

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Citation

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Chicago
Loeys, Bart, Lieve Nuytinck, Petra Van Acker, SOPHIE WALRAEDT, M BONDUELLE, K SERMON, B HAMEL, A SANCHEZ, Ludwine Messiaen, and Anne De Paepe. 2002. “Strategies for Prenatal and Preimplantation Genetic Diagnosis in Marfan Syndrome (MFS).” Prenatal Diagnosis 22 (1): 22–28.
APA
Loeys, Bart, Nuytinck, L., Van Acker, P., WALRAEDT, S., BONDUELLE, M., SERMON, K., HAMEL, B., et al. (2002). Strategies for prenatal and preimplantation genetic diagnosis in Marfan syndrome (MFS). PRENATAL DIAGNOSIS, 22(1), 22–28.
Vancouver
1.
Loeys B, Nuytinck L, Van Acker P, WALRAEDT S, BONDUELLE M, SERMON K, et al. Strategies for prenatal and preimplantation genetic diagnosis in Marfan syndrome (MFS). PRENATAL DIAGNOSIS. 2002;22(1):22–8.
MLA
Loeys, Bart, Lieve Nuytinck, Petra Van Acker, et al. “Strategies for Prenatal and Preimplantation Genetic Diagnosis in Marfan Syndrome (MFS).” PRENATAL DIAGNOSIS 22.1 (2002): 22–28. Print.
@article{149693,
  abstract     = {Marfan syndrome (MFS) is an autosomal dominant disorder with a prevalence of 2-3 per 10 000 individuals. Symptoms range from skeletal overgrowth, cutaneous striae to ectopia lentis and aortic dilatation leading to dissection. Prenatal diagnosis was until recently mainly performed in familial cases by linkage analysis, However, mutation detection has become available With thorough screening methods. The phenotypic variability observed in MFS makes reproductive options difficult, as molecular diagnosis cannot predict clinical severity of the disease. Data are presented on 15 prenatal and/or preimplantation genetic diagnoses (PGD) in nine families, originating from Belgium, the Netherlands, Spain and France. In four families data from linkage analysis were used, Whereas in five other families the causative FBN1 mutation was characterised. Four PGD cycles in two couples led to one ongoing pregnancy. In addition, two amniocenteses and nine chorionic villus (CV) samplings were performed. In five pregnancies an affected fetus was diagnosed. In one of them, the couple chose to continue the pregnancy and an affected child was burn, whereas the other four couples decided to terminate the pregnancy. It is expected that the greater availability of mutation testing of the FBN1 gene will increase requests for prenatal diagnosis. PGD appears to be an acceptable alternative for couples facing ethical reproductive dilemmas.},
  author       = {Loeys, Bart and Nuytinck, Lieve and Van Acker, Petra and WALRAEDT, SOPHIE and BONDUELLE, M and SERMON, K and HAMEL, B and SANCHEZ, A and Messiaen, Ludwine and De Paepe, Anne},
  issn         = {0197-3851},
  journal      = {PRENATAL DIAGNOSIS},
  language     = {eng},
  number       = {1},
  pages        = {22--28},
  title        = {Strategies for prenatal and preimplantation genetic diagnosis in Marfan syndrome (MFS).},
  volume       = {22},
  year         = {2002},
}

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