Down Syndrome - Postnatal Diagnosis

Postnatal Diagnosis

In cases where prenatal tests have been negative or haven't been performed, midwifery staff usually express the initial concern that a newborn has Down's syndrome, such as by distinctive signs or by general appearance. Clinical examination by a pediatrician can often confirm or refute this suspicion with confidence. Systems of diagnostic criteria for such an examination include Fried's diagnostic index, which includes the following 8 signs: flat face, ear dysplasia, tongue protrusion, corners of mouth turned down, hypotonia, neck skin excess, epicanthic fold, and a gap between 1st and 2nd toes. With 0 to 2 of these characteristics the newborn can likely be said to not have Down syndrome (with less than one in 100 false negatives), with 3 to 5 of these characteristics the situation is unclear (and genetic testing is recommended) and with 6 to 8 characteristics the newborn can confidently be said to have Down syndrome (with less than one in 100.000 false positives). In cases where there are no clinical grounds for making the diagnosis, it has been suggested that parents can reasonably be kept unaware of the initial suspicion. When the diagnosis remains possible, it is recommended to perform karyotype testing and inform the parents.