OC28.03: Whole‐genome SNP array analysis in routine prenatal diagnosis of chromosomal abnormalities ‐ a one‐year experience

Abstract

Oral communication abstractsdiameter in the three vessels and trachea view. This ratio was measured in a cross sectional study on 302 normal healthy fetuses between 15 and 39 weeks gestation and related to gestational age for reference ranges. The study group consisted of 90 fetuses with different CHD and a normal karyotype and of 20 fetuses with CHD and a proven del.22q11. Results: The TT-Ratio of normal fetuses did not show any statistically significant change during gestation with a mean value of 0.44. Values of 90 fetuses with CHD and no del.22q11 were within the normal range. However 19/20 (95%) fetuses with a proven del.22q11 had a significantly smaller TT-Ratio (P < 0.001) with a mean of 0.25. Conclusions:The study shows that the TT-Ratio can be easily achieved during fetal echocardiography. In normal fetuses it is constant throughout gestation with no need to compare to reference ranges. Fetuses with a low TT-Ratio are at high risk to be associated with del.22q11 and targeted FISH analysis is then recommended. OC28.02BACs on beads: a clue to ultrasound findings