Clinical relevance of diagnosing structural chromosome abnormalities in couples with repeated XXXX .

@entity2526 @entity2208 @entity1
BACKGROUND: The annual number of parental karyotypes in cases of repeated @entity2208 is increasing gradually in The Netherlands. The efficiency of offering parental karyotyping in couples with repeated @entity2208 has not been evaluated before, especially not for the group with miscarriages at advanced maternal age. METHODS: A historical cohort study and nested case-control study were conducted, including couples with at least two miscarriages. Data were retrieved from medical records and telephone interviews. The obstetric follow-up was recorded for > or =2 years after the parental chromosome analysis. Data were analysed to compare ratios of carrier/non-carrier couples in whom maternal age was > or =36 or <36 years at the second, third or fourth and more @entity2208 . A projected prevalence of carrier status of a @entity2526 was calculated by extrapolating the number of included @entity1 to the original level of the total screening population. RESULTS: Forty-one couples with carrier status of a @entity2526 and 74 couples without carrier status were included. No unbalanced offspring arose after the detection of a @entity2526 . The risk of being a carrier was not significantly lower (as might be expected) when @entity1 were > or =36 years. Ascertainment after two, three, or four and more miscarriages did not change these findings. CONCLUSIONS: Karyotyping of 1324 couples ascertained for repeated @entity2208 did not yield an unbalanced fetal chromosome pattern after the ascertainment of parental carrier status. In @entity1 with advanced maternal age, the frequency of carrier status was not lower than in younger @entity1 .
