Nuchal translucency thickness and outcome in chromosome translocation diagnosed in the first trimester |
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Authors: | Waldo Sepulveda Cecilia Be Ronald Youlton Eduardo Carstens Marcelo Reyes |
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Institution: | 1. Department of Obstetrics and Gynecology, Fetal Medicine Center, Clinica Las Condes, Santiago, Chile;2. Cytogenetics Laboratory, Clinica Las Condes, Santiago, Chile;3. Fetal Medicine Unit, Department of Obstetrics and Gynecology, San Jose Hospital, Santiago, Chile;4. Department of Obstetrics and Gynecology, Hospital Militar, Santiago, Chile |
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Abstract: | In order to determine the significance of nuchal translucency thickness on the subsequent natural history of first-trimester fetuses with a chromosome translocation, seven consecutive cases diagnosed between 11 and 13 weeks of gestation were reviewed. Nuchal translucency measurements were successfully obtained before chorionic villus sampling (CVS) in all cases. Three fetuses had an unbalanced translocation and all were associated with increased nuchal translucency and multiple anomalies at the detailed second-trimester scan. There were no survivors in this group. The remaining four fetuses had a balanced translocation; all had normal nuchal translucency thickness and no structural anomalies were detected in the second trimester. Three of these fetuses were born at ≥35 weeks of gestation and were phenotypically normal. However, an unexpected single fetal demise occurred in a dichorionic twin pregnancy at 28 weeks of gestation. It is concluded that nuchal translucency measurements provide important prognostic information on pregnancy outcome in first-trimester fetuses with a chromosome translocation. In parents with a known balanced translocation, the detection of increased nuchal translucency at 11–14 weeks of gestation is associated with unbalanced translocations, structural anomalies and poor pregnancy outcome. Copyright © 2001 John Wiley & Sons, Ltd. |
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Keywords: | chromosome translocation nuchal translucency first trimester prenatal ultrasound |
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