Fetal nuchal translucency screening in 12 495 pregnancies in Sardinia

Zoppi, Maria Angelica; Ibba, Rosa Maria; Floris, Michela; Monni, Giovanni

doi:10.1046/j.0960-7692.2001.00583.x

Cited by 69 publications

(39 citation statements)

References 13 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…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: 53%

“…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%

See 2 more Smart Citations

First‐Trimester Nuchal Translucency Screening

Wald

2002

J of Ultrasound Medicine

View full text Add to dashboard Cite

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.

show abstract

Section: Replysupporting

confidence: 53%

Section: Replymentioning

confidence: 82%

Section: Replymentioning

confidence: 99%

See 1 more Smart Citation

First‐Trimester Nuchal Translucency Screening

Wald

2002

J of Ultrasound Medicine

View full text Add to dashboard Cite

show abstract

“…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

View full text Add to dashboard Cite

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.

show abstract

“…Since 1996, in all cases where gestational age was appropriate, nuchal translucency ultrasound screening for chromosomopathies [33][34][35] was offered before prenatal diagnosis at the same center, and the results were included in the information given during genetic counseling. The Fetal Medicine Foundation software was used by certifi ed operators to calculate the adjusted risk for chromosomal abnormalities [36] .…”

Section: Methodsmentioning

confidence: 99%

Changes in the Approach for Invasive Prenatal Diagnosis in 35,127 Cases at a Single Center from 1977 to 2004

et al. 2006

View full text Add to dashboard Cite

Objectives: To evaluate the changes in the approaches used for invasive prenatal diagnosis for β-thalassemia and karyotyping at a single center from 1977 to 2004. Methods: For β-thalassemia, in 1977 placentacentesis, in 1982 amniocentesis, in 1983 fetoscopy and cordocentesis, in 1983 trancervical chorionic villi sampling (TC-CVS), in 1984 cardiocentesis, in 1986 transabdominal CVS, and in 2002 preimplantation genetic diagnosis (PGD) were introduced. For karyotyping, in 1977 amniocentesis, in 1983 cordocentesis and cardiocentesis and TC-CVS, in 1986 TA-CVS and in 1991 hepatic vein sampling were introduced. Rates of approaches used were retrospectively considered, for 5 different groups (1977–1981; 1982–1985; 1986–1993; 1994–1999; 2000–2004). Results: 35,127 invasive prenatal diagnoses were considered, and 42 PGD included. For β-thalassemia 6,547 diagnoses were performed and 42 PGD. Since 1986–1993, TA-CVS was the only approach used except for 42 PGD in the 2000–2004 group. For karyotyping 28,538 diagnoses were performed. Amniocentesis and TA-CVS have been the most frequently used in the last years, while cordocentesis and hepatic vein sampling have shown a decline after their introduction. Conclusion: TA-CVS is now the only technique used for β-thalassemia. For karyotype, amniocentesis and TA-CVS are the most frequently used procedures. Obstetrical and laboratory experience, the availability of screening, and other individual factors, have influenced the choice, towards an earlier approach in pregnancy.

show abstract

Fetal nuchal translucency screening in 12 495 pregnancies in Sardinia

Cited by 69 publications

References 13 publications

First‐Trimester Nuchal Translucency Screening

First‐Trimester Nuchal Translucency Screening

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

Changes in the Approach for Invasive Prenatal Diagnosis in 35,127 Cases at a Single Center from 1977 to 2004

Contact Info

Product

Resources

About