Concomitant chyloperitoneum and omental cysts presenting as fetal ascites with intra-abdominal cysts on prenatal ultrasound
✍ Scribed by Chih-Ping Chen; Schu-Rern Chern; Shuan-Pei Lin; Pei-Yeh Chang; Kuo-Ming Chang; Fon-Jou Hsieh
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 118 KB
- Volume
- 18
- Category
- Article
- ISSN
- 0197-3851
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✦ Synopsis
Semi-quantitative analysis showed that 66•7 per cent of 47,XY+21 cases had over 25 male cell equivalents in the maternal blood. Only 28•9 per cent of the 46,XY had a number of male cells over the same cut-off level (OR=4•9, 95 per cent CI=1•7-14•5, in the comparison 47,XY+21 versus 46,XY).
This above consideration could represent a new approach to screening for Down syndrome. The number of fetal cells present in the maternal blood sample could be used as a second non-invasive step in the detection of Down syndrome after the performance of either serum screening or nuchal translucency measurement. The current method used by many laboratories is to identify fetal cells on a microscope slide using monoclonal antibody to fetal haemoglobin. The decision to go on to invasive testing, such as amniocentesis or chorionic villus sampling, could be based on the presence of two independent non-invasive screening tests (serum markers plus fetal cells, or nuchal translucency plus fetal cells).
Secondary screening based upon the number of fetal cells detected in a maternal blood sample could reduce the number of invasive tests performed, thereby reducing the cost to detect the same number of Down syndrome cases and improving the positive predictive value given by both serum screening and nuchal translucency. Importantly, this could also reduce the number of procedure-related pregnancy losses. The major difficulty with this approach could be related to finding a cut-off level of number of fetal cells detected that has a sensitivity close to 100 per cent.
Alternatively, FISH studies could be performed using chromosome-specific probes on all cells that contain fetal haemoglobin. This would identify cells with three copies of chromosome 21 present. Adding FISH studies would increase the cost of screening but improve sensitivity and specificity.