Although prenatal or early neonatal diagnosis
is very important to avoid a complicated course, it is sometimes difficult.
When prenatal or neonatal diagnosis
of trisomy 18 is made, the counselling of the family should be realistic but not desolate.
of congenital pseudarthrosis of the clavicle.
(7) Low serum copper and ceruloplasmin levels in healthy term newborns precludes their use for early neonatal diagnosis. (6,7) Serum copper levels only reach adult levels by 1 - 2 months of life, (6,7) while low ceruloplasmin levels at birth reach a nadir by 2 - 3 months.
Neonatal diagnosis and treatment of Menkes disease.
of immunodeficiencies will help to save thousands of lives and therefore should be part of a worldwide campaign.
Using this new method of non-invasive neonatal diagnosis
, doctors can identify the blood type of the foetus, thereby avoiding the need to administer the anti-D injection in pregnant women with Rhesus negative foetuses, as well as avoid unnecessary treatment of pregnant women which carry the risk of transmission of viral infections and allergic reactions.
Stable isotope dilution analysis of succinylacetone using electron capture negative ion mass fragmentography: an accurate approach to the pre- and neonatal diagnosis
of hereditary tyrosinemia type I.
Application of DNA analysis in a population-screening program for neonatal diagnosis
of cystic fibrosis (CF): Comparison of screening protocols.
It a common diagnosis: in the US, where 400 000 to 600 000 newborns are evaluated with a complete blood count (CBC) and blood culture each year, it is probably the second most common neonatal diagnosis
after "well baby" (1-3).