Prenatal diagnosis of chromosomal aneuploidies is the most frequent prenatal test offered to pregnant women. In most cases, they are recommended in the following circumstances: maternal age of 35 years or above; positive firstor second-trimester screening test results, and increased risk of fetal aneuploidies due to family history. During the first trimester, screening tests include: nuchal tra...

OBJECTIVE Cell-free DNA (cfDNA) offers highly accurate noninvasive screening for Down syndrome. Incorporating it into routine care is complicated. We present our experience implementing a novel program for cfDNA screening, emphasizing patient education, genetic counseling, and resource management. STUDY DESIGN Beginning in January 2013, we initiated a new patient care model in which high-risk...

introduction: mental retardation, is one of the most common causes for referral to genetic counseling centers, and is one of the greatest challenges in health care services in the world. down syndrome is the most common chromosomal abnormalities in humans. methods: this study performed in medical genetic counseling center of welfare organization in south of iran with high consanguineous marriag...

This article reviews the performance of first trimester screening for chromosomal anomalies using various combinations of ultrasound and maternal serum biochemical modalities. Detection rates in excess of 90% can be routinely achieved for Trisomy 21, Trisomy 13, Trisomy 18 using a combination of fetal nuchal translucency (NT) thickness and maternal serum free ss-hCG and PAPP-A at 11 + 0 to 13 +...