Trisomy 13,18,21
Trisomy 13 accounts for ____% of
1
Recurrence rate of Trisomy 21?
1%
Trisomy incidence is 1/_________ to 1/___________ births
1/5000-1/20000
Trisomy 18 is the _______most common autosomal Trisomy
2nd
1/_______ overall, 1/504 in U.S., 1/274 in women over 35, 1/______in women 48 years
800, 10
______ cases of Trisomy 18 result in stillbirth or spontaneous abortion
95%
What testing is performed in the second trimester for Trisomy 21?
Amniocentesis
What other testing can be performed in the first trimester besides an NT when testing for Downs?
CVS
Another name for Trisomy 21
Downs Syndrome
Another name for Trisomy 18?
Edwards Syndrome
Prognosis of Trisomy 18
Extremely poor
What is the prognosis with Trisomy 13?
Extremely poor
Clinical features with Trisomy 21 are short stature, redundant nuchal skin, ________________, Simian crease (single palmar crease), brachycephaly, flat occiput, ____________, cardiac defects, ______________, ______________
Flat small nose, protruding tongue, hydrocephalus, gastrointestinal abnormalities
Recurrence rate of Trisomy 18
Less than 1%
What syndrome has presentation similar to Trisomy 13?
Meckel Gruber
What testing for Trisomy 21 is least invasive and performed in the first trimester?
Nuchal Translucency
Another name for Trisomy 13?
Patau Syndrome
What are four of the most common features associated with Trisomy 18?
Short ear length (95%), Clenched hands or overlapping digits (95%), CNS 87%, IUGR 50%
Most common autosomal trisomy in live born infants
Trisomy 21
What are some clinical features of Trisomy 13?
cleft lip and palate 60%-70%, limb deficiencies, clubfeet, polydactyly (75%), omphalocele
Most common defects with Trisomy 13 are CNS anomalies, cardiac defects,_____________, _____________,_____________ extremity abnormalities, renal abnormalities
facial anomalies, IUGR, holoprosencephaly
Prognosis of Trisomy 21 is _________ and survival rate is ____________yrs of age
good, 55 yrs
What are some clinical features of Trisomy 18 are cardiac defects, IUGR, prominent occiupt, ________________, small mouth, _________________, _______________, clenched hands, overlapping fingers, short sternum, rocker-bottom feet
micrognathia, low and pointed ears, mental retardation
Most common findings with Trisomy 21 are______________50%, cardiac abnormalities, short femurs, _________________, ____________________, hypoplastic middle phalanx of the 5th digit, ___________________, absent nasal bone
thickened nuchal fold 50%, echogenic bowel, duodenal atresia (double bubble sign), 2 vessel cord