First trimester sonographic detection of chromosomal abnormalities in an unselected population

Economides, D. L.; Whitlow, B.; Kadir, Rezan A.; Lazanakis, M. S.; Verdin, Stuart M.

doi:10.1111/j.1471-0528.1998.tb09351.x

Cited by 84 publications

(38 citation statements)

References 24 publications

(26 reference statements)

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Present research focuses on finding markers which will increase the effectiveness of prenatal screening while restricting the number of fetal sampling procedures. Serum assays [2][3][4][5][6], heart rate [7] and early fetal morphology [8] are screening techniques currently undergoing evaluation. Fetal nuchal translucency (NT) thickness seems to be a marker which has been validated in both high-and low-risk populations [9][10][11][12][13][14].…”

Section: Introductionmentioning

confidence: 99%

Pregnancy Outcome and Prognosisin Fetuses with Increased First-TrimesterNuchal Translucency

et al. 2001

View full text Add to dashboard Cite

Objective: One of the concerns of prenatal diagnosis is to find sensitive markers to screen for chromosome abnormalities, such as serum assays or nuchal translucency (NT). This study reports our experience with NT measurement during the first trimester of pregnancy. Materials: The study was performed prospectively on 252 fetuses with either NT ≧3 mm or cystic hygroma. Results: We observed 50 abnormal karyotypes, i.e. 19.8%. The incidence of chromosome abnormalities increased with increasing maternal age and increasing NT thickness. For the 202 fetuses with normal karyotypes, outcome was unfavourable in 32 cases: 23 elective terminations of pregnancy, 8 spontaneous abortions and 1 neonatal death. Outcome was favourable in 141 cases. Twenty-nine pregnancies were lost to follow-up. Conclusion: Measurement of NT at 12 weeks’ gestation seems to be a good marker for chromosome abnormalities. When the karyotype is normal, the pregnancy outcome remains correlated with the degree of NT thickness. The finding of NT >3 mm between 10 and 14 weeks’ gestation dictates rigorous ultrasound monitoring and caution when predicting pregnancy outcome.

show abstract

Section: Introductionmentioning

confidence: 99%

Pregnancy Outcome and Prognosisin Fetuses with Increased First-TrimesterNuchal Translucency

et al. 2001

View full text Add to dashboard Cite

show abstract

“…Among 23 cases of trisomy 21, 9.0% (n = 2) had structural abnormalities. Similarly, Economides et al 5 found a structural abnormality in 1 of 8 cases of trisomy 21 in the first trimester. In comparison, in a series of 46 cases of trisomy 13, holoprosencephaly was diagnosed in 24%, and omphalocele was diagnosed in 10%.…”

Section: Major or Structural Abnormalities And Fetal Aneuploidymentioning

confidence: 99%

“…[49][50][51][52][53][54][55][56] However, as outlined above, NT increases with gestational age, and the degree of risk has been found to vary with NT measurements. 5,57 Therefore, it was natural to express NT measurements relative to gestational age or crown-rump length as a delta value or multiple of the median (MoM). Multiple of the median data and derived likelihood ratios can then be used to estimate the patient-specific risk.…”

Section: Technique and Measurementmentioning

confidence: 99%

Sonographic screening for fetal aneuploidy: first trimester.

Souter¹,

Nyberg²

2001

J of Ultrasound Medicine

View full text Add to dashboard Cite

Objectives. Screening for fetal aneuploidy is now possible during the first trimester using sonographic and biochemical markers. The aim of this review was to summarize the efficacy and use of nuchal translucency in screening for fetal aneuploidy, especially fetal Down syndrome, and other anomalies. Methods. We reviewed available literature regarding first-trimester screening. This includes more than 16 studies of nuchal translucency as a marker for fetal aneuploidy published since 1995. Results. Although early studies showed wide variation in detection of fetal Down syndrome when using nuchal translucency, more recent studies showed sensitivities of approximately 70% to 80%, for a 5% false-positive rate. Increased nuchal translucency has also been found to be a marker for other aneuploidies, including trisomy 18, trisomy 13, and Turner syndrome. Maternal serum biochemical screening can be used as a test for aneuploidy during the first trimester. The 2 maternal serum markers that appear to be most useful in the late first trimester are the free β subunit of human chorionic gonadotropin and pregnancy-associated plasma protein A. Together with maternal age, these markers yield a detection rate for trisomy 21 of approximately 60%, for a 5% false-positive rate. Because sonographic and biochemical markers appear to be largely independent, their combined risk results in improved detection rates compared with either method alone. As a result, the combination of nuchal translucency, biochemical markers, and maternal age has achieved a detection rate of approximately 85%, for a 5% false-positive level for detection of trisomy 21. A newly proposed "integrated" approach using a panel of first-and second-trimester markers suggests that further improvement in the screening performance is possible. A number of questions regarding first-trimester screening remain. We address some of these questions: Is first-trimester screening more effective than second-trimester screening? How to account for intrauterine lethality? Is earlier diagnosis important, and will it be accepted by patients? Is first-trimester screening cost-effective? How should first-trimester screening be interpreted with second-trimester tests? Conclusions. Despite encouraging data and general enthusiasm for first-trimester screening for fetal Down syndrome and other aneuploidies, a number of questions remain about its implementation in the United States. Multicenter studies currently under way should help answer some of these questions.

show abstract

“…The findings of many studies suggest that effective first trimester screening for trisomy 21 can be provided only by the combination of maternal age and measurement of fetal NT (Pajkrt E et al, 1998;Economides DL et al, 1998;Bindra R et al, 2002;Liu SS et al, 2004;Rozenberg P et al, 2006;Westin M et al, 2006;Czuba B et al, 2007;Kagan KO et al, 2010). At a risk cut-off of 1 in 100, the detection rate of trisomy 21 is about 75%, at a false positive rate of about 2%.…”

Section: Detection Ratementioning

confidence: 99%

First Trimester Screening for Trisomy 21 by Maternal Age, Nuchal Translucency and Fetal Nasal Bone in Unselected Pregnancies

Geršak¹,

Perme²,

Strah³

2011

Genetics and Etiology of Down Syndrome

View full text Add to dashboard Cite

show abstract

First trimester sonographic detection of chromosomal abnormalities in an unselected population

Cited by 84 publications

References 24 publications

Pregnancy Outcome and Prognosisin Fetuses with Increased First-TrimesterNuchal Translucency

Pregnancy Outcome and Prognosisin Fetuses with Increased First-TrimesterNuchal Translucency

Sonographic screening for fetal aneuploidy: first trimester.

First Trimester Screening for Trisomy 21 by Maternal Age, Nuchal Translucency and Fetal Nasal Bone in Unselected Pregnancies

Contact Info

Product

Resources

About