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Prenatal diagnosis of fetal hydrops associated with Down's syndrome in a 40‐year‐old woman with a mosaic Turner's karyotype (45,X/47,XXX)

About 90% of women with a 45,X cell line, with or without mosaicism, present with the complete lack of pubertal development and menarche, and those who do attain normal puberty generally have ovarian failure before the age of 40 (1). Today it is possible for women with Turner’s syndrome to achieve pregnancy with the help of assisted conception techniques such as donor oocyte in vitro fertilization, in about 30% of cases (2). However, spontaneous conception in these women is a rare event. The patients with a detected mosaic genotype usually have milder somatic defects and are more likely to be fertile than those with a typical Turner’s syndrome. We describe a case with a mosaic Turner’s karyotype (45, X/47,XXX) who conceived spontaneously at 40 years of age with a fetus that hadhydrops andDown’s syndrome.The issues of genetic counselling and prenatal diagnosis are discussed.