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Multiple marker maternal serum screening tests, involving different combinations of alpha-fetoprotein, human chorionic gonadotropin (HCG) or free beta-HCG in some labs, and unconjugated estriol, may be abnormal in some pregnant women with an affected fetus; however, these tests aren't diagnostic.
Ultrasound commonly reveals multiple abnormalities in the fetus; however, because many multiple malformation syndromes have similar features, the diagnosis should be based on karyotype, done either prenatally or on peripheral blood lymphocytes or skin fibroblasts in a neonate or an aborted fetus. The neonate may have a single umbilical artery at birth. Magnetic resonance imaging or a computed tomography scan of the head may reveal a structural abnormality of the brain (holoprosencephaly) where the two cerebral hemispheres are fused.
Source: Professional Guide to Diseases (Eighth Edition), 2005
Multiple marker maternal serum screening tests involving different combinations of alpha-fetoprotein, human chorionic gonadotropin, and unconjugated estriol may be abnormal in many pregnant women with an affected fetus; however; these tests aren't diagnostic. Fetal ultrasound may reveal varying degrees of abnormalities, but many fetuses have few detectable defects.
Diagnosis should be based on karyotype, done either prenatally or using peripheral blood of skin fibroblasts after birth.
Source: Professional Guide to Diseases (Eighth Edition), 2005
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