Chromosomal Anomalies Flashcards Preview

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Flashcards in Chromosomal Anomalies Deck (10)
0

Mosaicism

normal and abnl set of chromosomes

Could be in fetus or in placental cells.

1

Chromosome

Centromere: connecting part
Short arm/ P: top
Long arm/ Q: bottom

2

Translocation

Balanced: rearranged but no info lost
Unbalanced: loss of genetic info

3

subtle findings

Nuchal Lucency > or = 3 mm
Absent nasal bone
Echogenic intracardiac foci
Echogenic bowel
Pyelectasis > 4mm

4

Trisomy 21 / Downs Syndrome

Moderately retarded. 20% die in 1st yr bc of ❤️anomalies.

*Inc NF
*NB absent
*Duodenal Atresia (double bubble sign)
*CHD 50%
*AV canal defect
*Absent middle 5th phalanx
*Sandal gap appearance
Hydrops
Short upper extremities
VSD, ASD
Widely spaced toes
*Tetralogy of Fallot: (overriding aorta, vsd, pulmonary artery atresia, right vent Hypertrophy)

EIF
Clinodactyly
Echogenic Bowel
Pyelectasis
Small ears
Bradycephaly round head

5

Trisomy 13 / Patau Syndrome

Profoundly retarded, 85% die 1st yr
*CHD 90%: (EIF, ASD, VSD, dextrocardia)
*CNS 70%

**holoprosencephaly: forebrain fails to develop into 2 hemispheres
ACC, DWM

Craniofacial anomalies: micrognathia, sloping forehead, clefts, microthalmia,
Cleft lip/palate

Renal abnl: PCK, horseshoe kidney, hydro

GI abnl: omphalocele

Extremities abnl: talipes/club foot (foot turned inward), polydactyly, rocker bottom feet (arched), camptodactyly (bent fingers), overlapping digits

IUGR, polyhydramnios, hypotonia,

6

Trisomy 18 / Edwards Syndrome

Severe retard
Lethal, 90% die within a year
CHD 90% (hypo plastic heart, VSD, ASD)
CDH (st above diaphragm)
*persistently clenched hands
*choroid plexus cysts

Renal: hydronephrosis
GI: omphalocele, cdh,
Limb: *overlapping digits, talipes, rocker bottom, absent radius/ulna
Facial: dolichocephaly, micrognathia
CNS: strawberry skull, DWM
SUA, IUGR, poly, hypotonia

7

Turners syndrome

45 XO females only, ID gender
* webbed neck
* cystic hygromas
*coarctation of aorta
Usually miscarry
Hydrops
Renal
❤️
Nuchal edema

8

Triploidy

Complete extra set of chromosomes
Severe growth retard. Lethal.
*syndactyly fused 3rd/4th digit

IUGR,
Renal: MCDK, hydronephrosis, ambiguous genetalia, oligo, poly
❤️: CHD, cardiomegaly, VSD
CNS: DWM
GI: omphalocele
Facial: cleft lip/palate, hypertelorism, micropthalmia, low set ears, pointed nose,
SUA

Partial mole with triploidy fetus: enlg molar placenta with cystic spaces

9

VACTERL association

Vertebral
Anal atresia
Cardiac
Tracheal Esophageal fistula
Renal
Limb