A screening program for trisomy 21 at 10–14 weeks using fetal nuchal translucency, maternal serum free β‐human chorionic gonadotropin and pregnancy‐associated plasma protein‐A

Spencer, Kevin; Souter, Vivienne L.; Tul, Natasha; Snijders, R. J. M.; Nicolaides, Kypros H.

doi:10.1046/j.1469-0705.1999.13040231.x

Cited by 546 publications

(430 citation statements)

References 43 publications

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“…This technique uses fetal nuchal translucency (NT) and maternal serum markers of free beta-human chorionic gonadotropin (free β-hCG) and pregnancy associated plasma protein-A (PAPP-A) at 10 to 14 weeks of gestation which are combined to give a risk assessment and stratify women as high or low risk (Snijders et al, 1998;Spencer et al, 1999).…”

Section: Introductionmentioning

confidence: 99%

Use of the combined first‐trimester screen result and low PAPP‐A to predict risk of adverse fetal outcomes

Barrett¹,

Bower

Hadlow³

2008

Prenatal Diagnosis

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ObjectivesTo investigate associations between combined first‐trimester screen result, pregnancy associated plasma protein‐A (PAPP‐A) level and adverse fetal outcomes in women.MethodsPregnancy outcomes for 10 273 women participating in a community based first‐trimester screening (FTS) programme in Western Australia were ascertained by record linkage to birth and birth defect databases. A first‐trimester risk cut‐off of ≥ 1 in 300 defined screen positive women.ResultsScreen positive pregnancies were more likely to have Down syndrome and birth defects (chromosomal or nonchromosomal) than screen negative pregnancies. When birth defects were excluded, screen positive pregnancies were at increased risk of pregnancy loss, low birth weight and preterm birth. Pregnancies with low PAPP‐A (⩽0.3 multiples of the median (MoM)) had higher risk of chromosomal abnormality, birth defect, preterm birth, low birth weight, or pregnancy loss, compared to those with PAPP‐A > 0.3 MoM. In pregnancies without birth defects, low PAPP‐A was a stronger predictor of preterm birth, low birth weight or pregnancy loss than a screen positive result.ConclusionsWomen with positive screen or low PAPP‐A were at increased risk for some adverse fetal outcomes. The sensitivity of these parameters was insufficient to support primary screening, but increased surveillance during pregnancy may be appropriate. Copyright © 2008 John Wiley & Sons, Ltd.

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Section: Introductionmentioning

confidence: 99%

Use of the combined first‐trimester screen result and low PAPP‐A to predict risk of adverse fetal outcomes

Barrett¹,

Bower

Hadlow³

2008

Prenatal Diagnosis

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“…11 When data regarding maternal serum data were not available, the first trimester risk was obtained by combination of maternal age and fetal NT. 12 Finally, when neither were available (women declining screening), the risk was calculated based on maternal age alone for the purposes of this study.…”

Section: Methodsmentioning

confidence: 99%

The association between prenatal atrioventricular septal defects and chromosomal abnormalities

Morlando¹,

Bhide

Familiari

et al. 2017

European Journal of Obstetrics & Gynecology and Reproductiv

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Word count -Abstract: 283; Main text: 2552. CondensationThe rate of trisomy 21 among fetuses with an AVSD in the second trimester is high even in those that undergo first trimester combined screening. Short version of titleAVSD and trisomy 21. Results:A total 110 fetuses with a diagnosis of atrioventricular septal defect were identified. Among the 98 fetuses with normal situs, the prevalence of trisomy 21 was 46% (95%CI: 36-56%). Using a 1:150 threshold, the rate of trisomy 21 within the low-risk group was 41% (95%CI: 27-57%) while in the high-risk group it was 70% (95% CI: 52-83%), significantly higher than in the low risk group (p= 0.028). Similar results were obtained when the 1:250 threshold was applied (66% versus 41%, p= 0.055). Conclusions:The rate of trisomy 21 among fetuses identified with an atrioventricular septal defect in the second trimester is high even in those that undergo first trimester combined screening. Some fetuses with a high-risk screening result show a normal karyotype. Therefore, an offer of an invasive 4 procedure to check fetal karyotyping is indicated. Knowledge of these rates may be helpful for parents in the decision making process.

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“…In a recent multicentre study of nuchal translucency screening in about 100,000 cases the detection rate was reported to be 77% for a false positive rate of 5% 5 . In separate studies the use of first trimester serum markers --pregnancy associated plasma protein-A (PAPP-A) and free bhCG --in combination with nuchal translucency and maternal age increased the sensitivity of the test to 89% for a 5% false positive rate 6 .…”

Section: Introductionmentioning

confidence: 99%

The use of nuchal translucency measurement and second trimester biochemical markers in screening for Down's Syndrome

Michailidis

Spencer

Economides

2001

BJOG

Self Cite

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Objective To assess the effectiveness of antenatal screening for trisomy 21 by first trimester sonography followed by second trimester biochemical screening. Design Retrospective five-year review.Setting Maternity unit of a university hospital.Population An unselected group of 7447 pregnant women who had a first trimester scan and nuchal translucency measurement in our unit after January 1995 and had an estimated date of delivery before 1 January 2000. 11.9% were $ 37 years old. A subgroup (n ¼ 4864) also had second trimester biochemical testing by alphafetoprotein and free b-human chorionic gonadotrophin. Main outcome measures Prenatal and postnatal diagnosis of trisomy 21.Results There were 23 fetuses affected with trisomy 21. The overall prenatal detection rate was 87% (20/23; 95% CI 66% to 97%) and we performed invasive procedures in 8.5% of our population. First trimester sonography identified 74% (95% CI 51.6% to 89.8%) of affected fetuses. Second trimester biochemical screening detected half of the fetuses with trisomy 21 which were missed by first trimester screening, increasing the sensitivity to 90.5% (19/21; 95% CI 69.6% to 98.8%) for an invasive procedure rate of 4.2% performed in screened positive women. However, the positive predictive value of the biochemical test was very low (0.5%). In screen negative women, karyotyping for advanced maternal age did not detect any affected fetuses. Conclusion First trimester nuchal translucency measurement is an effective screening test for the prenatal detection of fetuses with Down's Syndrome. Although the measurement of biochemical markers in the second trimester can detect additional affected fetuses this may be outweighed by the delay in diagnosis, the extra visits and cost so that the right time for biochemical screening is most likely to be in the first trimester.

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A screening program for trisomy 21 at 10–14 weeks using fetal nuchal translucency, maternal serum free β‐human chorionic gonadotropin and pregnancy‐associated plasma protein‐A

Abstract: Objective To examine the potential impact of combining maternal age with fetal nuchal translucency thickness and maternal serum free β-human chorionic gonadotropin (β-hCG)

Cited by 546 publications

References 43 publications

Use of the combined first‐trimester screen result and low PAPP‐A to predict risk of adverse fetal outcomes

Use of the combined first‐trimester screen result and low PAPP‐A to predict risk of adverse fetal outcomes

The association between prenatal atrioventricular septal defects and chromosomal abnormalities

The use of nuchal translucency measurement and second trimester biochemical markers in screening for Down's Syndrome

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