Comparison and integration of first trimester fetal nuchal translucency and second trimester maternal serum screening for fetal Down syndrome

Background Down's syndrome occurs when a person has three copies of chromosome 21-or the specific area of chromosome 21 implicated in causing Down's syndrome-rather than two. It is the commonest congenital cause of mental retardation. Noninvasive screening based on biochemical analysis of maternal serum or urine, or fetal ultrasound measurements, allows estimates of the risk of a pregnancy being a ected and provides information to guide decisions about definitive testing. Objectives To estimate and compare the accuracy of second trimester serum markers for the detection of Down's syndrome.

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Second trimester serum tests for Down's Syndrome screening

Alldred

Deeks

Guo

et al. 2012

Cochrane Database of Systematic Reviews

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First and second trimester serum tests with and without first trimester ultrasound tests for Down's syndrome screening

Alldred

Takwoingi

Guo

et al. 2017

Cochrane Database of Systematic Reviews

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Tests involving first trimester ultrasound with first and second trimester serum markers in combination with maternal age are significantly better than those without ultrasound, or those evaluating first trimester ultrasound in combination with second trimester serum markers, without first trimester serum markers. We cannot make recommendations about a specific strategy on the basis of the small number of studies available.

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First trimester ultrasound tests alone or in combination with first trimester serum tests for Down's syndrome screening

Alldred

Takwoingi

Guo

et al. 2017

Cochrane Database of Systematic Reviews

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Test strategies that combine ultrasound markers with serum markers, especially PAPP-A and free ßhCG, and maternal age were significantly better than those involving only ultrasound markers (with or without maternal age) except nasal bone. They detect about nine out of 10 Down's affected pregnancies for a fixed 5% FPR. Although the absence of nasal bone appeared to have a high diagnostic accuracy, only five out of 10 affected Down's pregnancies were detected at a 1% FPR.

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Comparison and integration of first trimester fetal nuchal translucency and second trimester maternal serum screening for fetal Down syndrome

Abstract: Integration of NT and second trimester serum AFP and hCG assay yielded the best screening efficacy for Down syndrome.

Cited by 20 publications

References 25 publications

Second trimester serum tests for Down's Syndrome screening

Second trimester serum tests for Down's Syndrome screening

First and second trimester serum tests with and without first trimester ultrasound tests for Down's syndrome screening

First trimester ultrasound tests alone or in combination with first trimester serum tests for Down's syndrome screening

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