Increased Nuchal Translucency as a Marker for Fetal Chromosomal Defects

• Published in: The New England journal of medicine Vol. 337; no. 23; pp. 1654 - 1658
• Main Authors: Taipale, Pekka, Hiilesmaa, Vilho, Salonen, Riitta, Ylöstalo, Pekka
• Format: Journal Article
• Language: English
• Published: Boston, MA Massachusetts Medical Society 04.12.1997
• Subjects: Adolescent; Adult; Aneuploidy; Biological and medical sciences; Chromosome Aberrations; Chromosome Disorders; Down syndrome; Down Syndrome - diagnostic imaging; Female; Fetal Diseases - diagnostic imaging; Fetus - abnormalities; Fetuses; Genital system. Mammary gland; Gestational Age; Head and Neck Neoplasms - diagnostic imaging; Humans; Investigative techniques, diagnostic techniques (general aspects); Karyotyping; Lymphangioma, Cystic - diagnostic imaging; Medical sciences; Neck - abnormalities; Neck - diagnostic imaging; Neck - embryology; Pregnancy; Sensitivity and Specificity; Ultrasonic imaging; Ultrasonic investigative techniques; Ultrasonography, Prenatal; Finland; Chromosomal aberration; Human; Radiodiagnosis; Ultrasound imaging; Aneuploidy; Cardiovascular disease; Down syndrome; Maternal diseases; Genetic determinism; Congenital disease; Lymphatic vessel disease; Prevention; Translucence; Vaginal route; Cystic lymphangioma; Malformation; Medical imagery; Female; Fetus; Benign neoplasm; Neck; Diagnosis; Karyotype; Comparative study
• ISSN: 0028-4793; 1533-4406; 1533-4406
• DOI: 10.1056/NEJM199712043372303

Maternal serum screening for fetal trisomy 21 (Down's syndrome) at 15 to 16 weeks of gestation is an established practice in many countries. The biochemical basis for this approach is that in the presence of fetal trisomy 21, the average maternal serum concentrations of chorionic gonadotropin are higher than normal and those of alpha-fetoprotein and estriol are lower than normal. When the values for screening tests are set at levels that will identify approximately 60 percent of the cases of trisomy 21, about 5 percent of pregnant women will have a positive test and may then undergo chorionic-villus sampling or . . .