Second Trimester Normal/ Abnormal

What does aneuploidy mean?

Having an abnormal number of chromosomes

What is the most common chromosomal abnormalities among spontaneous abortions?

Turner’s syndrome

What are sonographic features of trisomy 21?

thickened nuchal fold, AVSD, hydronephrosis, double bubble sign (duodena atresia), shortened long bones

What are less specific trisomy 21 markers?

cystic hygromas, ventriculomegaly, sandal gap toes, omphalocele, single umbilical artery

What lab finding is decreased in trisomy 21?

b hCG

For quad screen which test is increased in trisomy 21?

increased inhibin A

What are sonographic appearances of trisomy 18?

Symmetrical IUGR with polyhydramnosis, CPC’s. clenched fists, clinodactyly, club feet/ rocket bottom feet, large VSD

What are less specific sonographic markers of trisomy 18?

cleft lip, omphalocele, strawberry shaped head, radial ray syndrome, micrognathia

What is radial ray syndrome?

absent radius resulting in a clubbed hand

What are sonographic features of trisomy 13?

holoprosencephaly, cleft lip/palate, microphthalmia, absent nose, omphalocele

What is holoprosencephaly?

severe abnormality of the forebrain cleavage

What is the most severe form of holoprosencephaly?

alobar

What is this an image of?

alobar holoprosencephaly

What is this an image of?

semilobar holoprosencephaly

What is this an image of?

lobar holoprosencephaly

A paternal (partial molar pregnancy) placenta will have what appearance?

multiple cysts

a maternal molar pregnancy placenta will have what appearance?

small placenta

What are sonographic appearances of Turner’s syndrome?

cystic hygromas, short limbs, hydrops, heart defects, renal agenesis, horseshoe kidney, pelvic kidney

What is apert syndrome?

premature fusion of the skull and and feet bones.

What are sonographic features of apert syndrome?

prominent bulging forehead, hypertelorism, syndactyly

What is CHARGE syndrome?

a collection of rare malformations including coloboma, small eyes and cranial nerve damage

What does CHARGE syndrome stand for?

coloboma, heart defects, atresia, restriction in growth, genital and ear abnormalities

What is limb-wall body complex?

limb and ventral wall defects from amnion rupturing and sticking to fetus. Fetus commonly missing half its body for example.

What are sonographic characteristics of limb-wall defect complex?

fetus appears stuck to placenta, ventral wall defects, facial cleft, kyphoscoliosis, abnormal thumbs

What is Beckwith-Wiedemann syndrome?

overgrowth syndrome with 5 findings: macroglossia, anterior wall defects, hyperglycemia, macrosomia, hemihyperplasia (renal abnormalities too)

What are sonographic characteristics of Meckel Gruber syndrome?

encephalocele, ARPKD, limb abnormalities, dandy walker syndrome

What are sonographic features of Potter sequence?

oligohydramnosis impairing normal development in: extremities, facial features and lungs (pulmonary hypoplasia)

What may cause pulmonary hypoplasia (underdeveloped lungs)?

olioghydramnosis, restricted rib cage, chest masses, pleural effusion

What is the most common cause of lack of amniotic fluid?

PROM or GU abnormalities

What is CPAM type 1

macrocystic areas in the lung

What is CPAM type 2?

macro and microcystic areas in the lungs

What is CPAM type 3?

microcystic areas in the lungs (can look hyperechoic)

What is pulmonary sequestration?

a mass of ectopic pulmonary tissue with no communication with the bronchial tree

What is the most common type of CPAM?

type 1

What type of CPAM can pulmonary sequestration mimic?

Type3

How can you tell the difference between pulmonary sequestration and CPAM 3?

pulmonary sequestration has its own blood supply (feeding stalk off the aorta)

What type of CPAM can bronchogenic cysts mimic?

Type 1

What does foramen of Bockdalek hernia usually contain?

stomach and bowel contents

What does foramen of Maorgagni hernia usually contain?

liver

What are sonographic appearances of tracheal atresia?

enlarged lungs, ascites, polyhydramnosis

What is a strong indicator a fetus has esophageal atresia?

no stomach is seen

What three sections of the spine do you see in transverse?

lamina, peduncle and centrum

What is spina bifidua occulta versus spina bifida aperta?

occulta includes only the deep layers and is a closed defect, aperta includes all layers and is an open defect

What content is in a myelomeningocele?

meninges, CSF and neural tissue

What is the most common type of spina bifida?

aperta

What is elevated in fetuses with a NTD?

AFP

Where is the most common location for NTD’s?

lumbosacral region

What is Rachischisis?

failure of fusion of the spine

What plane is the spine best assessed?

transverse

What is iniencephaly?

when the vertebrae in the neck and shortened causing dorsiflexion

what spinal defect is the “star-gazer” position seen in?

Ineiencephaly

What is this an image of?

iniencephaly (star gazer position)

What are sonographic features of sirenomelia?

absence of sacrum, fusion of legs, renal agenesis, oligohydramnosis

What is the most severe form of caudal regression?

sirenomelia

What is the most common type of sacrococcygeal teratoma?

type I (external mass predominantly)

Where is CSF produced?

choroid plexus

What is the route that CSF takes?

lateral ventricles, interventricular foramen, 3rd ventricles, cerebral aqueduct, 4th ventricle, Magendie and Luchka

What is the upper limit of normal for lateral ventricles?

10mm

What is hydrocephalus?

increase in CSF that results in enlargement of the ventricular system

What is the most common cranial anomaly?

hydrocephalus

What is the difference between hydrocephalus and ventriculomegaly?

hydro is due to a CSF obstruction and ventriculomegaly is due to brain atrophy causing the ventricles to have space to enlarge

What are 3 causes of true hydrocephalus?

NTD, Dandy walker malformation, aqueduct stenosis

What is an aqueduct stenosis?

intraventricular obstruction between 3rd and 4th ventricle

What are examples of extraventricular obstruction?

Dandy Walker malformation and spina bifida

What are 3 sonographic signs of Arnold Chiari II?

lemon sign, obliterated cisterna magna, banana sign

What is Dandy Walker Malformation?

Enlarged cisterna magna where 4th ventricle directly communicates with it due to a defect in the cerebellum

What is AWM associated with?

agenesis of corpus callosum, heart defects, genitourinary, polydactyly

If you suspect the agenesis of the corpus callosum what structure should you try to see?

CSP

What trisomy is associated with CPC’s?

trisomy 18

What is acrania?

absence of the skull

What is exencephaly?

brain tissue exposed to amniotic fluid damages the brain tissue

What is an encephalocele?

brain herniates through the skull

What is Porencephaly?

hemorrhage or rupture causes brain tissue to damage

What is the most severe form of Porencephaly?

hydranencephaly

increase AFP can indicate what?

Encephalocele, omphalocele, gastroschisis, bladder extrophy, and neural tube defects

What is schizencephaly?

brain split into anterior and posterior segments of the brain

What is lissencephaly?

no sulci or gyri

What is craniosynostoses?

bizzare fusion of the cranial sutures

What is an omphalocele?

abdominal contents hernias into the umbilical cord

What is a small omphalocele associated with?

chromosomal abnormalities

What is a gastroschisis?

a defect in abdo to the right of the umbilical cord, bowel is free floating in amniotic fluid

What is gastroschisis associated with?

marijuana, smoking, younger women

What is bladder exstrophy?

bladder doesnt have a developed cloacal membrane. bladder develops outside fetus.

What is a cloacal exstrophy?

when the bladder, vagina, and rectus all connect together

What are sonographic features of cloacal exstrophy?

absence of bladder and unable to identify umbilical artery around the bladder

What are sonographic appearances of esophageal atresia?

absent or small stomach, polyhydramnosis, cystic area in neck

What does the double bubble sign suggest?

duodenal atresia

what is a normal colon diameter in a term fetus?

18mm

what is a normal small bowel diameter in a term fetus?

12mm

What disease can cause meconium ileus?

cystic fibrosis

What could cause hepatic calcifications in a fetus?

maternal TORCH infections

How many weeks does fetal urine production begin at?

11 weeks LMP

What should the length of the kidneys measure in fetuses?

similar to the gestational age

What is a normal renal pelvis measurement?

up to 5mm

What is bilateral renal agenesis associated with?

sirenonmelia, cardiac abnormalities, GI abnormalities, teratogens (Warfarin, cocaine type 1 diabetes)

What are two indirect sonographic features of bilateral renal agenesis?

absent bladder and oligohydramnosis

What is the difference between Potter’s sequence and syndrome?

syndrome referes to bilateral renal agenesis, sequence refers to a consequence of oligohydramnosis

Where is the obstruction if only the kidneys are dilated

UPJ

where is the obstruction if the ureters and kidneys are dilated?

UVJ

where is the obstruction if the bladder is dilated (keyhole appearance)

PUV (posterior urethral valve)