Does presence of two soft markers at anomaly is definitive of chromosomal abnormality of foetus??

Take home message on  correlation on diagnois of aneuploidy & presence or absence  of two soft markers  at anomaly scan: How definitive are presence of two soft markers?  Is presence of two soft markers  a definitive finding for aneuploidy or we have to proceed for amniocentesis ?? Conclusion and Summary

Sonography cannot be used to diagnose or exclude aneuploidy. It provides a noninvasive means by which to adjust the a priori risk on the basis of a variety of sonographic features. Although the literature is studded with studies on the soft markers of aneuploidy, most are done on high-risk populations. To extrapolate the findings to low-risk populations is neither scientific nor logical. Prospective studies should be conducted to confirm the value of isolated “soft markers” in low-risk women.

Although the management of each of the soft markers is different, a few generalizations can be made. First, the detection of any abnormal finding on ultrasound should prompt an immediate detailed ultrasound evaluation of the fetus by an experienced sonographer. If there is > 1 abnormal finding on ultrasound, if the patient is older than 35 years of age, or if the multiple marker screens are abnormal, an amniocentesis should be recommended to rule out aneuploidy.

If CPC or EIF is detected as an isolated marker on a second-trimester sonogram in a patient otherwise considered at low risk for fetal aneuploidy, amniocentesis is not indicated. In these circumstances, a CPC or an EIF should be considered a normal variant and is not considered clinically significant. Nuchal fold thickening, short humerus, or a major structural anomaly – even as an isolated finding – confers a high enough risk of aneuploidy in both high- and low-risk populations to recommend an amniocentesis. Echogenic bowel in isolation or in low-risk women needs a battery of investigations to rule out aneuploidy, CF, and viral infections.

Although there is ongoing debate regarding the clinical use of these markers in low-risk patients, their use in high-risk patients who have normal sonographic findings has been gaining momentum.