Absence of nasal bone in fetuses with trisomy 21 at 11–14 weeks of gestation: an observational study

Cicero, S.; Curcio, Patrizia; Papageorghiou, Aris T.; Sonek, Jiri; Nicolaides, Kypros H.

doi:10.1016/s0140-6736(01)06709-5

Cited by 463 publications

(360 citation statements)

References 10 publications

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“…More recently, first trimester screening using a combination of biochemical and ultrasound (nuchal translucency measurement) has been introduced in some centres 5 and /or nasal bone development. 6 Currently, approximately 35,000 pregnant women per year in the UK undergo invasive prenatal testing.…”

Section: Introductionmentioning

confidence: 99%

The future of prenatal diagnosis: rapid testing or full karyotype? An audit of chromosome abnormalities and pregnancy outcomes for women referred for Down's Syndrome testing

Ogilvie

Lashwood

Chitty

et al. 2005

BJOG

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Objective To assess the implications of a change in prenatal diagnosis policy from full karyotype analysis to rapid trisomy testing for women referred primarily for increased risk of Down's Syndrome. Design Retrospective collection and review of data.Setting The four London Regional Genetics Centres.Population Pregnant women (32,674) in the London area having invasive prenatal diagnosis during a six-year three-month period. Methods Abnormal karyotypes and total number of samples referred for raised maternal age, raised risk of Down's Syndrome following serum screening or maternal anxiety were collected. Abnormal karyotypes detected by molecular trisomy detection were removed, leaving cases with residual abnormal karyotypes. These were assessed for their clinical significance. Pregnancy outcomes were ascertained by reviewing patient notes or by contacting obstetricians or general practioners. Main outcome measures Proportion of prenatal samples with abnormal karyotypes that would not have been detected by rapid trisomy testing, and the outcome of those pregnancies with abnormal karyotypes. Results Results from 32,674 samples were identified, of which 24,891 (76.2%) were from women referred primarily for Down's Syndrome testing. There were 118/24,891 (0.47%) abnormal sex chromosome karyotypes. Of the samples with autosomal abnormalities that would not be detected by rapid trisomy testing, 153/24,891 (0.61%) were in pregnancies referred primarily for Down's Syndrome testing. Of these, 98 (0.39%) had a good prognosis (46/98 liveborn, 3/98 terminations, 1/98 intrauterine death, 1/98 miscarriage, 47/98 not ascertained); 37 (0.15%) had an uncertain prognosis (20/37 liveborn, 5/37 terminations; 12/37 not ascertained) and 18 (0.07%) had a poor prognosis (1/18 liveborn, 2/18 miscarriage, 11/18 terminations, 4/18 not ascertained). Conclusions For pregnant women with a raised risk of Down's Syndrome, a change of policy from full karyotype analysis to rapid trisomy testing would result in the failure to detect chromosome abnormalities likely to have serious clinical significance in approximately 0.06% (1 in 1659) cases. However, it should be noted that this figure may be higher (up to 0.12%; 1 in 833) if there were fetal abnormalities in some of the pregnancies in the uncertain prognosis group for which outcome information was not available.

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Section: Introductionmentioning

confidence: 99%

The future of prenatal diagnosis: rapid testing or full karyotype? An audit of chromosome abnormalities and pregnancy outcomes for women referred for Down's Syndrome testing

Ogilvie

Lashwood

Chitty

et al. 2005

BJOG

View full text Add to dashboard Cite

show abstract

“…The absence/hypoplasia of the nasal bone, which can be determined in the first 1 and second 2 trimesters of pregnancy and would seem to be a strong marker of trisomy 21, has been the subject of lively debate in this and other journals 3 .…”

mentioning

confidence: 99%

Nasal bone and trisomy 21: prenatal ultrasound and postmortem morphohistological study

Rustico

Bussani

Silvestri

2004

Ultrasound in Obstet & Gyne

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“…Several studies have demonstrated a strong between an absent nasal bone at 11-14 weeks of gestation and trisomy 21 [32][33][34]. And in the combined data from these studies, the fetal nasal bone was absence in 69% of fetus with trisomy 21 [26].…”

Section: Discussionmentioning

confidence: 91%

Evaluation of Trisomy 21 Screening by Fetal Nuchal Translucency Thickness, Maternal Age and Biochemical Serum in the South of Vietnam

Tomai¹,

Schaaps²

2012

Gynecol Obstet

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Aims: This study aimed to evaluate the most effective approach screening of trisomy 21 in the first trimester in Vietnam Method: A prospective study carried out during 1 year. All pregnancies screened the risk of trisomy 21 by association of the fetal nuchal translucency, maternal age and biochemical serum (free β-hCG and PAPP-A) as a combined test in the first trimester. The amniocentesis was used to diagnose trisomy 21. In each 4 approaches screening (the isolated maternal age, the maternal age and fetal NT thickness, maternal age and biochemistry, and combined test), the detection rate and false positive rate of trisomy 21 were calculated to find out the most effective screening method.Results: Followed up 2500 singleton pregnancies, the incidence of trisomy 21 was 0.6% (16/2500) (95%CI 0.4-1.0%). The absence of nasal bone and poly-malformation were the essential ultrasonographic findings of Down's syndrome. An increased fetal NT (≥ 2.4 mm) related significantly to this aneuploidy (OR=58.6, 95%CI 17.3-251, p < 0.0001). In comparison of 4 approaches screening, the most possibility of Down's syndrome detection was the combined test (87.5% of sensitivity for 2.6% of false positive rate). Conclusion:The combined test was effectively screening method for Down syndrome in Vietnamese pregnancies.

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Absence of nasal bone in fetuses with trisomy 21 at 11–14 weeks of gestation: an observational study

Cited by 463 publications

References 10 publications

The future of prenatal diagnosis: rapid testing or full karyotype? An audit of chromosome abnormalities and pregnancy outcomes for women referred for Down's Syndrome testing

The future of prenatal diagnosis: rapid testing or full karyotype? An audit of chromosome abnormalities and pregnancy outcomes for women referred for Down's Syndrome testing

Nasal bone and trisomy 21: prenatal ultrasound and postmortem morphohistological study

Evaluation of Trisomy 21 Screening by Fetal Nuchal Translucency Thickness, Maternal Age and Biochemical Serum in the South of Vietnam

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