Sex chromosomal anomalies in pregnancies conceived through intracytoplasmic sperm injection: a case for genetic counselling

The prevalence of sex chromosomal anomalies (SCA) is higher after treatment with intracytoplasmic sperm injection (ICSI) than in naturally conceived pregnancies. This finding is not only important in the debate about the genetic safety of ICSI, it also has repercussions on the design of appropriate strategies for prenatal and preimplantation diagnosis in ICSI pregnancies. We discuss here in detail the developmental prognosis of individuals carrying a sex chromosomal anomaly. Major malformations do occur in Turner syndrome, but not so in Klinefelter, the triple X and the XYY syndromes. Infertility represents an almost obligate finding in Klinefelter syndrome, but the latest developments in microassisted reproduction may help to overcome this problem. Importantly, mental retardation does not occur more often in individuals with an SCA than in normal controls. Academic achievement, however, may be somewhat reduced compared with peers. Overall, for most children carrying a sex chromosomal anomaly, a major congenital handicap is not to be expected, and the long-term developmental prognosis is fairly good. Therefore, if an SCA is diagnosed prenatally in an ICSI pregnancy, an unbiased and detailed discussion of the developmental perspectives is warranted. The option of continuing such a pregnancy should be given due consideration.