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712: Counseling for Down syndrome (DS) risk in first trimester screening underestimates actual cytogenetic abnormality risks by 35%

AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY(2012)

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ObjectiveOver the last 30 years, 2nd and now 1st trimester screening (TM) has focused on DS risks; patients have commonly only been quoted those. We published 20 years ago that for patients with low MSAFPs at risk for DS, that half of the abnormalities found were actually other than DS. We have recently shown that the lowest possible risk by screening of any chromosomal abnormality is 1/500 not the 1/10,000 commonly quoted for DS. Here, we investigate the distribution of abnormalities found in nearly 20,000 1st TM cases.Study DesignWe retrospectively analyzed data from 19,942 1st TM screens using NT, free β hCG, and PAPP-A. Cases were divided by screen positivity for DS, T13/18, and both. Findings included those plus other cytogenetic abnormalities.ResultsOverall, 1145 (5.7%) of cases were screen positive for DS, 78 (0.4%) for T13/18, and 59 (0.3%) for both with of the positives, 4%, 14.1% and 50.8% actually having cytogenetic abnormalities. Of those 41%, 36%, and 26.7% had an abnormality different from that which was the screen positive (Table). PPV for NT >3.0mm was 16%, and 30% for 3.5mm. Overall DR for T21 was 92.5% and 100% for T13/18. OPR was 87/1282 or 6.8% of which only 65% of abnormal findings were, in fact, for the screen positive suggested anomaly. T13/18 and both had higher OPR than DS Screen positivesTabled 1ConclusionFocus on DS risks alone significantly understates total observed risks at both the low and high ends which can falsely reassure patients who might as a result forego having diagnostic testing (CVS or amniocentesis). When there is an abnormality, over 1/3 are a different chromosomal abnormality than expected. Our data suggest: 1. 1st TM screening is a powerful tool for the identification of all chromosome abnormalities not just DS. 2. Quoted genetic counseling risks should always include total risk estimates not just DS or T13/18 alone, and 3. CVS and amniocentesis can identify additional abnormalities including the suggested anomalies and others that can be either more or less severe than the original expectation. ObjectiveOver the last 30 years, 2nd and now 1st trimester screening (TM) has focused on DS risks; patients have commonly only been quoted those. We published 20 years ago that for patients with low MSAFPs at risk for DS, that half of the abnormalities found were actually other than DS. We have recently shown that the lowest possible risk by screening of any chromosomal abnormality is 1/500 not the 1/10,000 commonly quoted for DS. Here, we investigate the distribution of abnormalities found in nearly 20,000 1st TM cases. Over the last 30 years, 2nd and now 1st trimester screening (TM) has focused on DS risks; patients have commonly only been quoted those. We published 20 years ago that for patients with low MSAFPs at risk for DS, that half of the abnormalities found were actually other than DS. We have recently shown that the lowest possible risk by screening of any chromosomal abnormality is 1/500 not the 1/10,000 commonly quoted for DS. Here, we investigate the distribution of abnormalities found in nearly 20,000 1st TM cases. Study DesignWe retrospectively analyzed data from 19,942 1st TM screens using NT, free β hCG, and PAPP-A. Cases were divided by screen positivity for DS, T13/18, and both. Findings included those plus other cytogenetic abnormalities. We retrospectively analyzed data from 19,942 1st TM screens using NT, free β hCG, and PAPP-A. Cases were divided by screen positivity for DS, T13/18, and both. Findings included those plus other cytogenetic abnormalities. ResultsOverall, 1145 (5.7%) of cases were screen positive for DS, 78 (0.4%) for T13/18, and 59 (0.3%) for both with of the positives, 4%, 14.1% and 50.8% actually having cytogenetic abnormalities. Of those 41%, 36%, and 26.7% had an abnormality different from that which was the screen positive (Table). PPV for NT >3.0mm was 16%, and 30% for 3.5mm. Overall DR for T21 was 92.5% and 100% for T13/18. OPR was 87/1282 or 6.8% of which only 65% of abnormal findings were, in fact, for the screen positive suggested anomaly. T13/18 and both had higher OPR than DS Screen positivesTabled 1 Overall, 1145 (5.7%) of cases were screen positive for DS, 78 (0.4%) for T13/18, and 59 (0.3%) for both with of the positives, 4%, 14.1% and 50.8% actually having cytogenetic abnormalities. Of those 41%, 36%, and 26.7% had an abnormality different from that which was the screen positive (Table). PPV for NT >3.0mm was 16%, and 30% for 3.5mm. Overall DR for T21 was 92.5% and 100% for T13/18. OPR was 87/1282 or 6.8% of which only 65% of abnormal findings were, in fact, for the screen positive suggested anomaly. T13/18 and both had higher OPR than DS Screen positives ConclusionFocus on DS risks alone significantly understates total observed risks at both the low and high ends which can falsely reassure patients who might as a result forego having diagnostic testing (CVS or amniocentesis). When there is an abnormality, over 1/3 are a different chromosomal abnormality than expected. Our data suggest: 1. 1st TM screening is a powerful tool for the identification of all chromosome abnormalities not just DS. 2. Quoted genetic counseling risks should always include total risk estimates not just DS or T13/18 alone, and 3. CVS and amniocentesis can identify additional abnormalities including the suggested anomalies and others that can be either more or less severe than the original expectation. Focus on DS risks alone significantly understates total observed risks at both the low and high ends which can falsely reassure patients who might as a result forego having diagnostic testing (CVS or amniocentesis). When there is an abnormality, over 1/3 are a different chromosomal abnormality than expected. Our data suggest: 1. 1st TM screening is a powerful tool for the identification of all chromosome abnormalities not just DS. 2. Quoted genetic counseling risks should always include total risk estimates not just DS or T13/18 alone, and 3. CVS and amniocentesis can identify additional abnormalities including the suggested anomalies and others that can be either more or less severe than the original expectation.
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关键词
actual cytogenetic abnormality risks,down syndrome,first trimester,screening
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