Trisomy 18 misc


A place for all the random papers which don't fit into a particular category

Apneas observed in trisomy 18 neonates should be differentiated from epileptic apneas (Fukasawa T et al) 2015
Identifies that some apneas in infants with trisomy 18 are infact seizures which can be successfully managed with anti epileptic drugs. Suggests EEG for all patients with trisomy 18 and apneas.

Thymic-thoracic ratio in fetuses with trisomy 21, 18 or 13 (Karl et al) 2013
Looks at thymus size in fetuses with trisomies. Noted reduced thymus size in fetuses with 18 and 21. Suggests due to thymic involution rather than primary thymus hypoplasia. The reduced thymus size could be linked to the increased incidence and severity of infection in these infants. Abstract only. Available for purchase. Healthcare professionals can access via Open Athens

Reported communication abilities in persons with trisomy 18 and trisomy 13 (Liang C et al) 2013
Looks at communication ability in children and adults with trisomies (ages 3-35). Around half of parents reported that their child had at least one word, sign or gesture that was communicative. There was a low incidence of challenging behaviour and stereotyped movements. Abstract only. Full article available for purchase

Prenatal diagnosis of hypoplastic left heart syndrome and trisomy 18 in a fetus with normal nuchal translucency and abnormal ductus venosus blood flow at 13 weeks of gestation (Martinez Crespo JM et al) 2003
A study where T18 was identified due to abnormal  blood flow early in pregnancy. Discusses how abnormal ductus venosus blood flow in the heart may be an early indicator of a chromosomal or cardiac anomaly and how this may be utilised when screening for these in early pregnancy.


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