First‐trimester screening for chromosomal abnormalities by fetal nuchal translucency in a Brazilian population

Brizot, Maria de Lourdes; Carvalho, Mário Henrique Burlacchini de; Liao, Adolfo Wenjaw; Reis, Nádia S. V.; Armbruster-Moraes, E.; Zugaib, Marcelo

doi:10.1046/j.0960-7692.2001.00588.x

Cited by 51 publications

(27 citation statements)

References 19 publications

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“…In our experience and in that of the other FMF sites, the false-positive rates for NT combined with maternal age are considerably lower than those suggested in Wald's table. 1,7,[15][16][17][18][19] These rates compare favorably with those of the triple screen, which is the standard of care in the United States today. 20 Malone et al appear to be confused concerning the clarity, premise, and complexity of our editorial.…”

Section: Replysupporting

confidence: 51%

“…This statement, which at first appears reasonable, is contradicted by the evidence. There is a growing body of literature from FMF centers throughout the world with results that were similar to those in the large observational study by Snijders et al 1,7,[15][16][17][18][19] The editorial by Haddow 8 accompanying the study by Snijders et al 7 does suggest that the sensitivity rate may be as low as 60%, although this is true only if every case of Down syndrome not ascertained due to fetal loss had a normal estimation of risk. Malone et al fail to point out that in that same editorial, Haddow, a pioneer in the use of serum screening, states that, ".…”

Section: Replymentioning

confidence: 82%

“…Several studies were recently published describing NT screening in different populations using FMF risk estimation software. [17][18][19] Detection rates of greater than 85% were described in these populations, with falsepositive rates of 7% to 13%. Wapner 21 recently presented results from a multicenter NICHDfunded study evaluating NT and first-trimester biochemical screening in detecting Down syndrome.…”

Section: Replymentioning

confidence: 99%

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First‐Trimester Nuchal Translucency Screening

Wald

2002

J of Ultrasound Medicine

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To the Editor: Chasen and colleagues 1 in their editorial "Prenatal Informed Consent for Sonogram: The Time for First-Trimester Nuchal Translucency Has Come" 1 correctly point out that nuchal translucency (NT) is a useful marker in prenatal screening for Down syndrome and in competent hands could be used for this purpose. The main unresolved issue, however, is how this measurement should be used in screening. Table 1 compares the false-positive rates of different tests, all used to achieve an 85% detection rate. With NT and maternal age, the false-positive rate is 18%, far higher than for other tests in which NT is included: 4.8% for the first-trimester combined test and 0.8% with the first-and second-trimester integrated test.The evidence indicates that NT alone or with maternal age should not be used as a screening test for Down syndrome. As Chasen and colleagues say in their editorial, seeking independent corroboration of the comparative performance of the different markers, alone and in combination with assessment of the implications for screening practice, is a current research issue. These are the main objectives of studies such as the First-and SecondTrimester Evaluation of Risk for Aneuploidy (FASTER) trial in the United States and the Serum, Urine, and Ultrasound Screening Study in Britain.The issue is not whether NT measurement is useful in screening but establishing how it should be used in combination with other screening markers to maximize detection of affected pregnancies and minimize the number of false-positive results in a cost-effective way.

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Section: Replysupporting

confidence: 51%

Section: Replymentioning

confidence: 82%

Section: Replymentioning

confidence: 99%

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First‐Trimester Nuchal Translucency Screening

Wald

2002

J of Ultrasound Medicine

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“…The Fetal Medicine Foundation (London) has described a standard method for measuring NT and produced a software program for calculating the risk of trisomy 21 [2] . This screening program has been used in many different countries, and yielded similar detection rates around 80% [3][4][5][6] . However, some authors claimed that it is inappropriate to apply the FMFs risk estimation techniques in different populations [7,8] .…”

mentioning

confidence: 99%

Screening for Fetal Chromosomal Abnormalities with Nuchal Translucency Measurement in the First Trimester

Has¹,

Kalelioğlu²,

Ermiş³

et al. 2006

Fetal Diagn Ther

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Objective: To describe the detection rate of first-trimester chromosomal abnormality screening with nuchal translucency (NT) measurement and maternal age in our population. Methods: We have screened the fetuses between 11 to 14 weeks’ gestation according to the Fetal Medicine Foundation’s (London) instructions and used the FMF’s software to assess the risk based on maternal age, crown-rump length (CRL) and NT. Fetal karyotyping was offered when screening for Down syndrome identified a risk greater than 1 in 300. Sensitivity and false-positive rates were calculated for different cut-offs. Results: Pregnancy outcome was obtained from 4,598 babies of 4,365 mothers. The median maternal age of the 4,365 women was 28.2 ± 5.3 (range 15–47) years, and the median fetal CRL was 65.4 ± 9.4 (range 45–81) mm. There was risk estimate of ≧1 in 300 in 214 fetuses (4.7%). Chromosomal abnormalities were identified in 32 fetuses, including 19 cases of trisomy 21, and 13 cases of other abnormalities. The sensitivity using NT and maternal age in detecting trisomy 21 with a cut-off 1 in 300 was 73.6% (14/19) with a false-positive rate of 4.7%. At a false-positive rate of 3%, with a cut-off level 1 in 210, the detection rate was 73.6%. The detection rate for all chromosomal abnormalities with a cut-off level 1 in 300 was 68.8% (22/32) at a false-positive rate of 4.7%. Conclusion: The first-trimester screening for chromosomal anomalies with NT measurement, when carried out according to the accepted standards of quality, is useful.

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“…1,4 The prevalence of fetal abnormalities and adverse pregnancy outcomes increases exponentially with the thickness of NT, especially when it becomes as thick as 3.5 mm. 1,5 The number of major fetal malformations (FM) rises from 2.5% to nearly 45% and the miscarriage rate and fetal death go from 8 to 80% when NT increases by 6.5 mm or more between the 95th and 99th percentiles, respectively. 1,2,4,6 It is universally acknowledged in the literature that increased NT is a marker of adverse pregnancy outcomes, both for chromosomally abnormal fetuses and for those with normal karyotypes.…”

Section: Introductionmentioning

confidence: 99%

Translucência nucal aumentada e cariótipo normal: evolução pré e pós-natal

Saldanha

Brizot

Moraes

et al. 2009

Rev. Assoc. Med. Bras.

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Objective:The aim of this study was to evaluate prenatal and postnatal outcomes of fetuses with increased nuchal translucency thickness (NT) and normal karyotype. MethOds: Two hundred seventy-five fetuses with increased NT were submitted to karyotyping analysis, serial ultrasound scans, echocardiography and postnatal clinical and genetic evaluation at the Division of Fetal Medicine of the Obstetric Outpatient Clinic of Universidade de São Paulo. Results:The karyotype was abnormal in 14.2% of the cases and normal in 85.8%. In cases with normal karyotype, 24.7% presented structural abnormalities in the second-trimester ultrasound scan, and one third showed major malformations, 35.7% of which consisted of heart defects. Adverse pregnancy outcome such as miscarriages, intrauterine and neonatal deaths occurred in 10.2% of cases. Postnatal follow-up was established for 72.7% of infants, and abnormalities were observed in 14.8% of them. Chances of having a live and healthy infant decreased with increased NT thickness, corresponding to 37.5% for NT equal to or greater than 4.5 mm. cOnclusiOn: In cases with increased NT thickness and normal karyotype, the frequency of fetal malformations, especially heart defects, adverse pregnancy outcomes and postnatal abnormalities is related to NT thickness.

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First‐trimester screening for chromosomal abnormalities by fetal nuchal translucency in a Brazilian population

Abstract: A combination of maternal age and fetal NT provides an effective method of screening for chromosomal defects. The performance of the test in a Brazilian population is similar to that in Britain.

Cited by 51 publications

References 19 publications

First‐Trimester Nuchal Translucency Screening

First‐Trimester Nuchal Translucency Screening

Screening for Fetal Chromosomal Abnormalities with Nuchal Translucency Measurement in the First Trimester

Translucência nucal aumentada e cariótipo normal: evolução pré e pós-natal

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