PURPOSE: To evaluate the ability to identify fetuses with autosomal trisomy by use of
sonographic features in the form of a scoring system. MATERIALS AND METHODS: The …

The Genetic Sonogram is an ultrasound examination done on second trimester fetuses that
not only evaluates the fetus for structural malformations, but also searches for the …

To identify fetal histologic features characteristic of specific chromosomal anomalies, we
reviewed histologic slides of 415 cases, including therapeutic and spontaneous abortuses …

Individuals with Down syndrome have abnormally short long bones. Sonography has
previously revealed slightly shortened femurs and thickened nuchal folds in affected second …

Objectives To examine cardiovascular and non‐cardiovascular prenatal ultrasound markers
and determine which markers physicians of varying skill levels could use to identify fetuses …

Abstract Chromosomal abnormalities occur in 0.1% to 0.2% of live births, and the most
common clinically significant aneuploidy among live-born infants is Down syndrome (trisomy …

Fetal malformations are very frequent in industrialized countries. Although advanced
maternal age may affect pregnancy outcome adversely, 80%-90% of fetal malformations …

This review summarizes the development, history and use of second‐trimester sonographic
markers for the detection of fetal Down syndrome over three decades. Starting with the …

OBJECTIVE: Recent studies have reported the efficacy of first-trimester combined screening
for Down syndrome based on maternal age, serum markers (human chorionic gonadotropin …

Aneuploidy is a major cause of perinatal morbidity and mortality and can have a significant
impact on expecting parents and their families. With early screening and diagnosis it is …