Syndromes

Aneuploid

Any abnormal number of chromosomes

Trisomy

3 copies of one individual chromosome

Fetal karyotyping

Analysis of chromosomes

chorionic villi sampling

samples placenta for trophoblastic cells between 10-12 wks

Amniocentesis

samples of amniotic fluid taken 15 wks and over

Cordocentesis

Samples of fetal blood through umbilical cord takes at 17 wks and over

Most common cause for abnormal quad screen

incorrect dating

T21

Down syndrome

Sono findings for T21

absent nose bone

short limbs

flattened profile

thickened NF

cardiac defects (Av canal)

macroglossia

echogenic bowel

sandal gap feet

duodenal atresia

echogenic intracardiac focus

T21 screening

elevated hCG and inhibin- A

Low AFP, estriol, PAPP-A

T18

Edwards syndrome

Sono findings for T18

choroid plexus cyst

strawberry skull

cardiac defects

micrognathia

omphalocele

rockerbottom feet

esophageal atresia

clinodatyly

Screening for T18

all values are decreased

T13

Patau’s syndrome

Sono finding for T13

Holoprosencephaly

Facial abnormalities

Microcephaly

Omphalocele

Club feet

Polydactyly

cardiac defects ( hypoplastic left heart)

Screening for T13

Non specific

most common aneuploid

T21

Turners syndrome

Monosomy X

Screening for turners syndrome

Low AFP, estriol, PAAP-A

+hydrops- low hCG, inhibin A

Sono findings for turners syndrome

cystic hygroma

cardiac defects

hydrops

increased NT

renal agenesis

Found in females

Triploidy

3 sets of chromosomes (69)

Screening for triploidy

High hCG

Sono for triploidy

partial molar pregnancy

cardiac defects

theca-lutein cyst

syndactyly

IUGR

small low set ears

Fatal anuploids

T18, T13

Potters syndrome

bi lateral renal agenesis

oligohydramnios

pulmonary hypoplasia

facial deformities

Monosomy

One missing chromosome (45)

Meckel- gruber

microcephaly

polydactyly

encephalocele

polycystic kidney disease

Pentalogy of Cantrell

omphalocele

ectopia cordis

sternal/ diaphragm defects

Amniotic band syndrome

limb amputations

facial clefts

gastroschisis

skeletal defects

Limb body wall

Abdominal wall defects

scoliosis

facial/ limb defects

Euploid

normal chromosomes

List the Euploids

Meckel-Gruber

Potters

Beckwith-Wiedemann

Pentalogy of Cantrell

VACTERL

Amniotic band

Limb Body Wall

Fetal Alcohol

Kleebattchadel

cloverleaf skull

craniosyntosis

holt-oram

heart/arm

cardiac defects

upper extremity defects

treacher collins

collar

ears

mandible

palate malformations ^