Screening for fragile X syndrome in women of reproductive age.

@article{Pesso2000ScreeningFF,
  title={Screening for fragile X syndrome in women of reproductive age.},
  author={Rachel Pesso and Michal Berkenstadt and H Cuckle and Eva Gak and Leah Peleg and Moshe Frydman and Gad Barkai},
  journal={Prenatal diagnosis},
  year={2000},
  volume={20 8},
  pages={611-4}
}
We conducted a prospective intervention study of screening for fragile X syndrome in the general population. Antenatal and preconceptional screening were carried out in 9459 women aged between 19 and 44 with no known family history of fragile X syndrome. 80% were tested antenatally. 134 carriers were detected (a frequency of 1 in 70); 130 had a premutation (PM) and 4 had a full mutation (FM). Prenatal diagnosis was carried out in 108 concurrent or subsequent pregnancies among carriers involving… CONTINUE READING

From This Paper

Topics from this paper.

Citations

Publications citing this paper.
Showing 1-10 of 51 extracted citations

Carrier screening in preconception consultation in primary care

Journal of Community Genetics • 2011
View 11 Excerpts
Highly Influenced

Fragile X-associated tremor/ataxia syndrome.

Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke • 2017

Similar Papers

Loading similar papers…