Objectives To compare the diagnostic usefulness of highfield with low-field magnetic resonance imaging (MRI)and stereomicroscopic autopsy for examination of the heart in fetuses at or under 20 weeks' gestation. (95% CI,) and specificity 100. 0% (95% CI,. Eight fetuses out of 10 with congenital heart disease (CHD) were classified as having major CHD.
Methods
High-field MRI at 9.4 T was able to identify seven out of the eight cases of major CHD.Conclusion High-field MRI at 9.4 T seems to be an acceptable alternative approach to invasive stereomicroscopic autopsy for fetuses with CHD at or below 20 weeks' gestation.
Robertsonian translocation carriers are at increased risk for infertility, spontaneous abortions, or chromosomally unbalanced offspring. Reproductive counseling of these carriers is challenging. We performed a retrospective analysis of all prenatal diagnoses from Robertsonian translocation carriers during the time period January 1, 1992 through December 31, 2007. Data on the carriers and the results of their prenatal analyses were retrieved as well as data on their previous pregnancies. We identified 28 female and 20 male carriers of Robertsonian translocations and results on 79 prenatal samples were obtained. Among female carriers, 10.3% of chorionic villus sampling and 5.9% of amniocentesis results were unbalanced, whereas for male carriers, this was 3.6% and 0%, respectively. When considering all pregnancies involving carriers, 52.7% of those to female carriers and 61.8% of those to male carriers led to the birth of a healthy child. Male carriers in whom the translocation was ascertained because of infertility or recurrent miscarriages appear to be at higher risk, whereas carriers in whom ascertainment was because of a family history are at lower risk. We conclude that pregnancies of Robertsonian translocation carriers are at increased risk for chromosomal imbalance, and prenatal chromosomal testing should be discussed. More than half of the pregnancies led to the birth of a healthy child, but prediction of which couples will be successful in obtaining a pregnancy with or without assisted reproductive technologies and/or embryo selection remains difficult. The reason for ascertainment of the translocation should be taken into account when counseling these couples. The possibility of preimplantation genetic diagnosis should also be discussed with the couples.
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