Diagnosis of Down’s syndrome in neonates

• Published in: Archives of disease in childhood. Fetal and neonatal edition Vol. 87; no. 3; pp. F220 - F221
• Main Authors: Hindley, D, Medakkar, S
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health 01.11.2002; BMJ; BMJ Publishing Group LTD; National Library of Medicine - MEDLINE Abstracts
• Subjects: Babies; Biological and medical sciences; Chromosome aberrations; diagnosis; Down Syndrome - diagnosis; Down’s syndrome; Down’s syndrome negative; Down’s syndrome positive; DSN; DSP; False Positive Reactions; Humans; Infant, Newborn; karyotyping; Karyotyping - methods; Laboratories; Medical genetics; Medical sciences; Newborn babies; Short Report; Studies; United Kingdom > UK; Chromosomal aberration; Human; Trisomy; Indication; Chromosome G21; Aneuploidy; Down syndrome; Congenital disease; Symptomatology; Newborn; Cytogenetics; Diagnosis; Karyotype
• ISSN: 1359-2998; 1468-2052
• DOI: 10.1136/fn.87.3.F220

The results of karyotyping for Down’s syndrome in neonates were surveyed. From local data 36%, and from a national questionnaire, 32% of such samples were negative for Down’s syndrome. To examine this, a subset of notes was reviewed for documentation of clinical signs of Down’s syndrome. Some characteristics were often recorded, but other common discriminatory characteristics were noted less often or not at all.