The mid-trimester genetic sonogram.

Abstract:

:The genetic sonogram is a composite algorithm combining multiple individual markers to increase Down syndrome risk prediction. Transformation of sonographic information into a standard mathematical format represented an early challenge that has now been surmounted. Using increasingly sophisticated mathematical techniques, individual patient risk can be estimated. High diagnostic accuracy comparable to standard mid-trimester serum algorithms has been reported. Most recently, a few studies have reported the ability to combine serum and biochemical markers to achieve diagnostic accuracy comparable to first-trimester screen. Even fewer studies have reported combinations of ultrasound and maternal urine markers. While it is clear that consistently high sensitivity and specificity for Down syndrome can be achieved, almost all the studies are based on high-risk groups. Studies in low-risk populations have suffered from lack of standardization. The relevance of genetic sonogram in a low-risk population thus remains to be proven. The most significant challenge, however, remains the development of uniform and reproducible sonographic and measurement standards. This is likely to be the most important factor in optimizing the accuracy of the mid-trimester genetic sonogram.

journal_name

Semin Perinatol

journal_title

Seminars in perinatology

authors

Bahado-Singh RO,Oz UA,Mendilcioglu I,Mahoney MJ

doi

10.1053/j.semperi.2005.06.005

keywords:

subject

Has Abstract

pub_date

2005-08-01 00:00:00

pages

209-14

issue

4

eissn

0146-0005

issn

1558-075X

pii

S0146-0005(05)00071-6

journal_volume

29

pub_type

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