Abstract

Ultrasound provides important complementary information at two levels in the case of both elevated and depressed maternal serum α-fetoprotein (MSAFP) test results. Office scanning is capable of explaining about 30% of apparent elevations of MSAFP, and about 50% of low values by correcting gestational age and detecting multiple gestation or fetal death. Targetted or high detail referral ultrasound is capable of diagnosing over 90% of the structural malformations associated with elevated MSAFP. including neural tube, ventral wall, and urinary tract defects. This diagnostic capability allows for specific counseling in the event of a positive diagnosis and for relative risk adjustment in the case of a normal examination. The patient may then consider further invasive testing in light of an adjusted risk for malformation. It has been demonstrated that many patients will decline invasive testing. Careful review suggests that the low sensitivity and poor predictive value of ultrasound in the detection of aneuploidy do not support ultrasound as a primary screening tool but do support its adjunctive use with MSAFP screening.

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