Autopsy: Peds

1. determine:

   1. gestational age

   2. time of death

   3. underlying abnormalities

   4. COD

2. evaluate:

   1. pregnancy

   2. obstetric care

3. assess diagnostic and therapeutic procedures, treatment courses

4. generate data

5. research

6. medical teaching

7. legal evidence gathering

8. provide genetic info for future pregnancies:

   1. cytogenetic analysis

   2. SNP microarray/LOH

discuss the purposes of performing a perinatal or infant autopsy (8)

1. body weight

2. body length (crown to heel and crown to rump)

3. head circumference (occipital-frontal)

4. chest circumference (nipple line)

5. nipple separation

6. arm span (3rd digits)

7. xiphoid → pubis

8. xiphoid → umbilicus

9. abdominal circumference (umbilicus)

10. umbilical cord stump (LxD, # of vessels)

11. penis length

12. hand length, bilateral

13. foot length, bilateral (most reliable)

list the body measurements taken during the external examination of perinatal autopsy (13)?

1. interpupillary distance

2. inner canthal

3. outer canthal

4. interalar distance (width of nose)

5. philtrum (nose to upper lip)

6. upper lip thickness

7. lower lip thickness

8. mouth commissure

9. palpebral fissure, bilateral

10. pupils, bilateral

11. external ear helix (2), bilateral

12. fontanelles in 2D (easier after skin reflection if possible)

list the face/head measurements taken during the external examination of perinatal autopsy (12)

1. May or may not have access

2. Causes of pregnancy loss in the second trimester are different from early pregnancy losses

3. Obstetric care/treatment and labor/delivery

4. How could the mother’s health affect the child?

   1. Diabetes

   2. Environmental factors - smoking, drinking

5. Family history and genetics that could impact the child

defend the significance of reviewing the mother’s medical chart prior to performing an infant autopsy.

1. Requires consent if:

   1. Gestational age is greater than 20 weeks

   2. Body weight is greater than 500 grams

   3. Less than 20 weeks usually surg path

2. Talking to family for consent and disposition of body before performing the autopsy

3. Consent ONLY following death

   1. Mother and father have equal rights - need agreement

   2. Ability to accept/decline, choose limitations:

      1. “Minimize disfigurement”

      2. External only

      3. Certain organs only

      4. Research only

      5. No extremities or head

      6. May or may not want to know the sex

      7. No photos

      8. All tissue returned with body

examine the unique importance of verifying consent with perinatal specimens

1. Assessment of anomalies/malformations vs. medical disease

2. Letulle method almost always - important to preserve anatomic relationships

defend the significance of an extensive external examination.

maceration

degenerative changes in fetal tissue when retained in utero

icteric sclera

iris coloboma

missing iris portion of eye

moebius sequence

paralysis of facial nerves, unable to form facial expressions

cloverleaf deformity

enlarged anterior fontanelle, other cranial sutures fused, hydrocephalus, macrocephaly

nuchal cord

umbilical cord around neck

cystic hygroma

lymphatic obstruction leading to fluid accumulation

cleft palate

high arch

macrognathia

abnormally large jaws

clinodactyly

abnormal curvature of 5th digit associated with down syndrome

amniotic band syndrome

osteogenesis imperfecta

1. abnormally formed bones due to insufficiency or absent type I collagen production; most severe form is lethal

   1. short, bent limbs

   2. multiple fractures

   3. short, beaded ribs

   4. reduction or absence of cranial vault ossification

   5. blue sclera

thanatophoric dysplasia (TD)

most severe subtype of osteogenesis imperfecta

birth with intact amniotic membrane sac

what is an en caul birth?

en caul birth

body stalk anomaly

• abnormal development of body folds leading to absence/shortening of umbilical cord

• organs lie outside the abdominal cavity directly attached to the placenta

abnormal accumulation of fluid in two or more fetal compartments: ascites, pleural effusion, pericardial effusion, skin edema; leads to heart failure

what is hydrops fetalis

hydrops fetalis

results from fetal anemia in the setting of chronic intrauterine anemia (immune or non-immune) or congenital heart anomalies

sirenomelia

“mermaid syndrome”

• improperly formed lower vasculature leading to hypoperfusion and underdevelopment of lower limbs (caudal regression)

• usually death due to GU complications

what is sirenomelia?

recipient → heart failure

donor → anemia and renal failure

COD of death in twin-twin transfusion syndrome

blood supply of twins becomes connected, allowing the movement of blood from one twin to the other across the placenta (monochorionic), causing circulation imbalance

define twin twin transfusion syndrome

acardius-acephalus

• incomplete fetus with legs and possible caudal organs

• cranially amorphous mass of tissue with no heart or brain

complete acardiac twin

• fetus with recognizable body regions and some poorly developed, non-functioning organs

• blood pumped from one twin to another by retrograde flow

omphalo-ischiopagus tripus

conjoined twins at the abdominal and lower extremity

thoracopagus

conjoined twins at the chest

craniothoracopagus

conjoined twins at the head and chest

trisomy 13 - patau syndrome

• microcephaly

• mental retardation

• microphthalmia

• polydactyly

• cardiac defects

• umbilical hernia

• renal defects

• cleft lip/palate

• rocker bottom feet

• **majority die in utero

trisomy 18 - edwards syndrome

• prominent occiput

• mental retardation

• micrognathia

• low set ears

• short neck

• overlapping fingers

• congenital heart defects

• renal malformations

• limited hip abduction

• rocker bottom feet

• more life threatening, majority die in uterus, AMA, female

trisomy 21 - down syndrome

● epicanthic folds, upslanting palpebral fissures, flat facies

● macroglossia

● mental retardation

● simian crease

● abundant neck skin

● congenital heart defects

● intestinal stenosis

● umbilical hernia

● hypotonia

● gap between first and second toes (saddle)

1. oligohydramnios

2. bilateral renal agenesis

3. pulmonary hypoplasia - usually lethal

4. low set ears

what are key findings in potter sequence

dandy-walker syndrome

cerebellum does not develop normally

triploidy

additional set of chromosomes per cell

neu-laxova syndrome

severe growth delays; distinctive facial and head abnormalities

omphalocele

• defect in the anterior abdominal wall at the insertion of the umbilical cord

• incomplete closure of abdominal musculature

• opening covered by amnion/peritoneum into which viscera protrude

gastroschisis

• congenital paraumbilical defect of anterior abdominal wall

• visceral organs are uncovered

• all layers of the abdominal wall are involved

• 2% of population

• 2 feet proximal to ileocecal valve

• 2 inch length

• 2 types of common ectopic tissue (gastric/pancreatic)

• 2 years is most common age for presentation

• 2:1 male to female ratio

meckel’s rule of 2’s

diaphragmatic herniation

necrotizing enterocolitis (NEC) totalis

inflammation/infection of bowel causing tissue death, perforation, sepsis; commonly affects premature infants.

hirschsprung’s disease

migration of ganglion cells is incomplete; colon movement is improperly regulated causing stool obstructions

ARPKD

polysplenia

horseshoe kidney

1. VSD

2. pulmonary stenosis

3. right ventricular hypertrophy

4. overriding aorta

tetralogy of fallot (TOF)

transposition of great vessels

lympho/vascular malformation

• mirror development of SVC on the left side

• drains the head/neck on left and allows it to return to right atrium via SVC

what is an innominate vein

situs inversus totalis

• rare AR condition causing abdominal and thoracic organs to be mirrored in relation to normal

• asymptomatic alone and often with other anomalies

malrotation

congenital anomaly of intestinal position

spina bifida

incomplete closure of the embryonic neural tube

iniencephaly

spina bifida of cervical vertebrae with defect in occipital protuberance; retroflexion

encephalocele

neural tube defect with membrane covered protrusions of brain through skull opening

hydrancephaly

cerebral hemispheres are absent; brain is filled with CSF within sacs

anencephaly

neural tube defect that occurs when the rostral end of the embryonic neural tube fails to close; incomplete development of brain, scalp, skull; most stillborn

cyclopia

single eye; most severe of facial defects and missing nose or proboscis

holoprosencephaly

cephalic disorder in which the embryo forebrain fails to develop into two hemispheres

lissencephaly

rare brain disorder causing the brain’s surface to appear smooth due to lack of gyri and sulci; defective neuronal migration during 12-24 weeks gestation

premature (vasculature strength greatly increases in the last 10 weeks)

what makes babies more susceptible to intraventricular hemorrhage?

meningitis