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