Screening for fragile X syndrome in women of reproductive age.

  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},
  volume={20 8},
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

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