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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

First trimester aneuploidy screening in the presence of a vanishing twin: implications for maternal serum markers.

OBJECTIVE: To assess the impact of a vanishing twin on the levels of the biochemical markers used in the first trimester aneuploidy screening. METHODS: A retrospective analysis of free beta-hCG and PAPP-A levels in 270 women with a normal singleton fetus with ultrasound evidence of a vanishing twin pregnancy. Marker levels (as MoM) were compared in three groups-76 women with a second empty gestational sac, 194 women with a second gestational sac containing a dead fetus with a measurable crown rump length (CRL), and 1360 matched singleton pregnancies. RESULTS: In women with a second empty gestational sac, the median free beta-hCG and PAPP-A MoMs (0.968 and 1.040, respectively) were not significantly different from the 1.0 MoM in singleton pregnancies. In the group with a vanished twin with a measurable-CRL-there was a significantly increased median PAPP-A MoM (1.317) but the median free beta-hCG MoM was not changed (1.024). Modelling this bias in PAPP-A MoM the detection rate for trisomy 21 would fall from 85 to 75%. CONCLUSION: First trimester screening in the presence of a vanishing twin may lead to errors in risk estimation. In such circumstances it may be advisable to restrict screening to the use of nuchal translucency (NT) alone.[1]


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