Femur/foot length ratio for detection of Down syndrome: results of a multicenter prospective study

Article Abstract:

Early ultrasound detection of a shorter femur and foot may not not be a good universal screening test for Down syndrome. The femur is the thigh bone. Down syndrome, a form of retardation which occurs in about 1 in 700 births, is determined by a faulty gene in chromosome 21. Researchers measured the length of the femur bone and the ratio between foot and femur in the ultrasound images of 2,847 second-trimester fetuses. Of these children, 34 had Down syndrome and 50 had other genetic defects. All mothers had ultrasound evaluations followed by amniocentesis. The femur/foot length ratio was generally the most accurate in detecting Down syndrome. However, if the number of false positives or diagnostic errors were 2.3%, the test sensitivity would decrease. For example, to identify one case of Down syndrome correctly would require 100 unnecessary amniocenteses.

Measurement, Genetic aspects, Down syndrome, Femur

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The performance of routine ultrasonographic screening of pregnancies in the Eurofetus Study

Article Abstract:

Ultrasound scans can detect many fetal malformations. In a study of 3,685 fetuses born with malformations, 61% had been diagnosed before birth. Ultrasound was very effective in detecting malformations of the central nervous system and urinary tract, but less effective for malformations of the heart and blood vessels.

Evaluation, Prenatal diagnosis

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Atrioventricular septal defect in the fetus

Article Abstract:

Less than half the fetuses with atrioventricular septal defect are identified prenatally even though this heart defect can be seen by a 4-chamber ultrasound scan. In a study of 49 fetuses with this heart defect, 13 were diagnosed with Down syndrome and only 23 survived.

Abnormalities, Fetus, Atrial septal defects in children

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