Chapter 25 ■ Perimortem Sampling 137

Conversation with a genetic or metabolic expert

may guide collection of these fluids (6,8,20).

H. Imaging: May be used alone or in

conjunction with autopsy

1. X-rays

a. Important, especially in diagnosing skeletal dysplasia.

b. Include an anteroposterior and lateral of skull,

whole spine, long bones, pelvis, and images of hands

and feet (23).

2. MRI

a. Images of the neonatal brain are very useful and

may provide information that is missed on autopsy

in some cases (5,23).

I. Autopsy

1. Full autopsy (preferred)

a. Provides the most complete picture of the infant

and has been found to contribute useful information in 40% to 60% cases (2,4,23,24).

b. Complete inspection of the neonatal brain requires

2 weeks’ fixation prior to examination. This may

mean that the burial is postponed or that the infant’s

body is buried without the brain.

2. Limited examination: If parents are reluctant to consent

to a full autopsy, several choices exist.

a. Full autopsy except examination of brain: This allows

the brain to be buried with the body. Postmortem

imaging of the brain with MRI may provide useful

information on this organ.

b. Limited autopsy: Examination is limited to certain

organs or areas of the body. This can also be coupled

with imaging for some families.

c. Imaging only (MRI and/or x-rays): A wide range of sensitivities and specificities have been reported. Initial

reports were promising, with 90% to 100% sensitivity

and specificity in diagnosis with whole-body MRI.

Recent studies have shown lower rates of concordance

between MRI and autopsy of 30% to 60% (5,25).

d. Perimortem or postmortem sampling of body tissues

and fluids only or in combination with any of the

above (26).

3. Consult with pathologist before obtaining consent for

limited autopsy so that examination is best directed at

questions to be answered.

J. Postmortem Family Conference

1. After results are available from perimortem sampling

evaluation and reports generated from autopsy and radiological testing, a conference should be scheduled with

the family.

2. The conference has many purposes (6,27)

a. To give an overview of findings

b. Explain ramifications for future pregnancies and

generations

c. Allay feelings of guilt parents may have regarding

the cause of death

d. Answer questions regarding decisions made by the

medical team

e. Confirm or dispel allegations of abuse or neglect

f. Provide emotional support to families

3. The conference should be led by an experienced physician with great sensitivity and communication skills.

He or she should be familiar with the case and have a

complete understanding of case results and their implications. Nurses, therapists, social workers, and other

physicians who are important to the infant’s care team

may also be present.

4. The meeting should be unhurried, with adequate time

available for all the family’s questions to be answered.

5. A written report summarizing the results of the meeting

and written in language understandable to the family

should be provided. A copy of the report should be sent

to the family’s primary care physician after obtaining

appropriate consent from the family.

6. Bereavement photographs of the infant can be given at

this time or at an earlier time if possible.

References

1. Christodoulou J, Wilcken B. Perimortem laboratory investigation

of genetic metabolic disorders. Semin Neonatol. 2004;9:275.

2. Weber M, Ashworth M, Risdon RA. Sudden unexpected neonatal

death in the first week of life: Autopsy findings from a specialist

center. J Matern Fetal Neonatal Med. 2009;22:398.

3. Champion MP. An approach to the diagnosis of inherited metabolic disease. Arch Dis Child Educ Pract Ed. 2010;95:40.

4. Laing I. Clinical aspects of neonatal death and autopsy. Semin

Neonatol. 2004;9:247.

5. Thayyil S. Less invasive autopsy: an evidenced based approach.

Arch Dis Child. 2011;96:681.

6. Ernst L, Sondheimer N, Deardorff M, et al. The value of the metabolic autopsy in the pediatric hospital setting. J Pediatr. 2006;

148:779.

7. Cernach M, Patricio F, Galera M, et al. Evaluation of a protocol for postmortem examination of stillbirths and neonatal

deaths with congenital anomalies. Pediatr Dev Pathol. 2004;7:

335.