Diagnosis of Down's syndrome in neonates

Gender Affects Clinical Suspicion of Down Syndrome

“…When neonates were analyzed separately, the false positive rate has improved up to 7.2%. Among publications where data on accuracy of Down syndrome diagnosis can be found there are some reporting on the prevalence of false positive diagnosis in neonates [Devlin & Morrison, 2004;Fried, 1980;Hall, 1964;Hindley & Medakkar, 2002;Melve et al, 2008;Sivakumar & Larkins, 2004]. The rate of false positives in our sample appeared to be the lowest, being closer to figure of 9.6% in Norway [Melve et al, 2008].…”

“…False positive diagnosis implies a great undue mental stress for parents, therefore maximizing clinical diagnostic accuracy is of importance [Hindley & Medakkar, 2002]. Significance of expert clinical assessment of a patient before cytogenetic testing was explored by Sivakumar & Larkins [2004].…”

“…Despite the widely held belief that the clinical diagnosis of Down syndrome is very obvious, some publications report on difficulties of clinical judgment arising in the neonatal period [Druce et al, 1995;Fried, 1980;Hall, 1966;Hindley & Medakkar, 2002;Lee et al, 1961]. Factors which alter suspicion of Down syndrome are known to be early delivery and prematurity [Mikkelsen, 1988].…”

“…Generally, the clinical diagnosis is straightforward and well-known to all medical workers [Mikkelsen, 1988]. However, misdiagnosis (false positive diagnosis) of Down syndrome was reported in numerous publications [Ahmed et al, 2005;Baccichetti et al, 1990;Ballesta et al, 1977;Engel et al, 1970;Fried et al, 1980;Hamerton et al, 1965;Melve et al, 2008;Szollar et al, 1983], being particularly high in neonates [Devlin & Morrison, 2004;Hindley & Medakkar, 2002]. Factors which alter suspicion of trisomy 21 are known to be early delivery and prematurity [Mikkelsen, 1988].…”

Postnatal Identification of Trisomy 21: An Overview of 7,133 Postnatal Trisomy 21 Cases Identified in a Diagnostic Reference Laboratory in China

“…Even in the Unites States of America, in spite of widespread application of prenatal screening and diagnosis for DS, more than 85% of mothers who have children with DS first received the diagnosis postnatally [ 21 ]. Although the majority of postnatal DS cases can be identified based on clinical features, available data showed that 29–36% of clinically diagnosed or suspected DS were subsequently confirmed to be false positive [ 22 , 23 ]. Thus, cytogenetic characterization is essential not only to confirm the diagnosis but also to differentiate the subtypes of Tri21 for genetic counseling purpose since different subtypes of Tri21 are connected to different risks of recurrence as well as to reveal underlying genetic variations which might have contributed to the variations of Tri21/DS in different racial/ethnic populations.…”