RISK FOR A NUMERICAL CHROMOSOMAL ABERRATION
March 3rd, 2006The most frequent examples are the recurrence risk of trisomy 21 (Down's synÂdrome) and the risk for chromosomal aneuploidies at advanced maternal age (38 years and older).
The recurrence risk for trisomy 21 is 1% as calculated either from retrospective data (Pfeiffer et al., 1973) or from prospective series of prenatal diagnoses for this indication (Milunsky, 1973). The recurrence risk of other numerical aberraÂtions is less well known. This is related to the question of the presence in man of a familial tendency to non-disjunction. Two types of evidence for this phenomenon are present:
a. A number of sibships have been described with aneuploidies for different chroÂmosomes (Girardet et al.,1972; Bell & Cripps, 1974; Holmgren & AWhn, 1971; Hamerton, 1971).
b. Chromosomal studies on subsequent spontaneous abortions in the same family inÂdicate that if the first abortion showed a chromosomal aberration, the following was likely to be caused by a chromosomal aberration, not necessarily being of the same type (Boue & Bou6, 1973).
These factors are to be considered when giving recurrence risks for a trisomy others than trisomy 21. Bell & Cripps (1974) advise prenatal monitoring in
every pregnancy in families where a child with an aneuploidy has been born. Chromosomal mosaicism in one of the parents might give a considerably higher risk for recurrence of the same aneuploidy than in the previous group and seÂveral of these families were described (Beratis et al. 1972; Hsu et al., 1971). The recurrence risk of chromosomal mosaicism is probably in the order of 1% but cases of familial mosaicism were described, where higher risk figures are involved (Hsu et al. 1970; Shih et al., 1974).
Down's syndrome is not the only trisomy with an increased frequency at adÂvanced maternal age; other autosomal trisomies tend to be more common as well. However, these will be found relatively rarely since there is a high early abortion rate in these cases (Laurence et al., 1974 ). The risks for a chromosomal aberration !n the maternal age-groups of 35-39 years and over 40 years were found to be 1.5% and 3%, respectively in a collected series of prenatal diagnoses (Hsu & Hirschhorn, 1974).
