Prenatal Screening for Down's Syndrome with Use of Maternal Serum Markers

Haddow, James E.; Palomaki, Glenn E.; Knight, George J.; Williams, Josephine; Pulkkinen, Andrea J.; Canick, Jacob A.; Saller, Devereux N.; Bowers, Gail Barsel

doi:10.1056/nejm199208273270902

Cited by 428 publications

(187 citation statements)

References 11 publications

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“…Table 2 shows the current performance achieved in prospective practice. We believe these screening performance figures confirm our predictions based on our retrospective study, especially when compared with the prospective performance achieved by Wald et al 16 of 48% detection and the 58% detection achieved by Haddow et al 17 using 'triple screening'. In summary, Wald et al offer comments on our paper based on theory.…”

Section: Pointsupporting

confidence: 90%

“…A new study to be published shortly' also confirms that the median free (3-hCG levels in Down's syndrome cases does appear higher in the earlier weeks compared with that at [17][18][19][20][21][22] weeks. This difference between free {3 hCG and total hCG is precisely consistent with our observations of elevated free (3 hCG levels during the first trimesterv' at a time when levels of total hCG are not elevated.…”

Section: Pointmentioning

confidence: 77%

“…However, on re-examination on Fig. 2 and its associated data we did find that this figure contained two errors: there are 91 points plotted rather than the 90 that should be and two cases plotted at 16 weeks should have been at 17 weeks.…”

Section: Pointmentioning

confidence: 89%

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et al. 1993

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Section: Pointsupporting

confidence: 90%

Section: Pointmentioning

confidence: 77%

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et al. 1993

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“…5,6 In 1992, a large prospective study reported that the combination of these 3 serum markers and maternal age identified 58% of fetuses with trisomy 21 in a group of more than 25,000 women. 7 Subsequent to this study, triple-marker serum screening was incorporated into clinical practice.…”

mentioning

confidence: 99%

“…In practice, the triple-marker screening program has limited the screen-positive rate to less than 7% to reduce the number of patients exposed to the risk of amniocentesis. 7 Figure 1 illustrates the relationship between the screen-positive rate for triple-marker screening and the sensitivity for the detection of trisomy 21. After triple-marker screening and reclassification of patients according to their risk, 81% of fetuses with trisomy 21 are present in 21% of the patients with screen-positive results (Fig.…”

mentioning

confidence: 99%

Combined use of genetic sonography and maternal serum triple‐marker screening: an effective method for increasing the detection of trisomy 21 in women younger than 35 years.

DeVore

Romero

2001

J of Ultrasound Medicine

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Objective. The current standard of practice is to screen women younger than 35 years for trisomy 21 with maternal triple-marker screening, followed by amniocentesis in high-risk (1:10-1:190) patients. Non-high-risk patients are not offered further diagnostic testing. This study was conducted to determine whether genetic sonography of fetuses considered to be at moderate risk (1:190-1:1000) after maternal triple-marker screening increases the detection for trisomy 21, is cost-effective, and reduces the number of amniocenteses required to detect a single fetus with trisomy 21. Methods. After triplemarker screening, mathematical modeling was used to classify 500,000 theoretical fetuses as high, moderate, or low risk (>1:1001-1:10,000) for trisomy 21. The sensitivity for genetic sonography varied between 60% and 90%, and false-positive rates varied between 5% and 25%. Two programs (I and II) were compared with the control program. The control program included patients with highrisk fetuses (1:10-1:190) who had amniocentesis. Program I consisted of patients in the moderate-risk group (1:191-1:1000) who had genetic sonography followed by amniocentesis only when an abnormal sonographic finding was present. Program II used an approach in which genetic sonography was done for both high-and moderate-risk fetuses, and amniocentesis was performed only when an abnormal sonographic finding was present. Results. When added to the control program, genetic sonography significantly increased the detection rate of Down syndrome (range, 68.1%-77.8% versus 49%), reduced the cost of detection, and resulted in a ratio of fetuses with Down syndrome detected to normal fetuses lost because of amniocentesis of greater than 1 (range, 2.1-4.2). Compared with the control program, program II significantly increased the detection of fetuses with trisomy 21 (range, 56%-72%) when the sensitivity of genetic sonography was >70%, reduced the cost of detection, and had ratios of trisomy 21 detection to normal fetuses lost because of amniocentesis of between 2.38 and 17.88. Conclusion. Women younger than 35 years and classified as having moderate risk after triple-marker screening could undergo genetic sonography under 1 of 2 approaches, either of which would result in an increased detection rate of trisomy 21 and be costeffective without increasing the loss rate of normal fetuses after genetic amniocentesis.

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