Evaluation of the Malformed Fetus and Stillborn
by Beth A. Pletcher, MD, March 1998

Clearly pregnancy loss or death of a fetus late in gestation can be a devastating experience for parents. Thoughtful evaluation of the malformed fetus or stillborn in many circumstances can provide valuable information to parents for a time in the future when they may be considering another pregnancy. For all losses, the prenatal, perinatal and family history should be reviewed.

A. The Malformed Fetus

• At the time of miscarriage, if the fetus is noted to have birth defects, a careful examination should be done to document other anomalies. In some cases an autopsy should be considered. Photos of the fetus may be helpful, too

• If there are skeletal defects, fetal X-rays may clarify the anomalies or uncover other hidden defects. Tissue, if available, may be sent for histopathologic and/or DNA studies in an attempt to establish a specific diagnosis.

• Chromosome studies on fetal blood and/or tissue should be considered.

B. The Stillborn Infant

• Careful measurements should be taken including crown-rump, crown-heel, foot lengths and weight. These may help to determine if IUGR is present. Examination should include frontal and profile photos and a general survey for dysmorphic features.

• AP and lateral X-rays may uncover unrecognized defects that may identify a specific syndromic diagnosis and provide accurate risks for recurrence.

• The placenta, umbilical cord and membranes should be examined for changes that might explain the fetal findings. The number of umbilical cord vessels should be noted since a two vessel cord is seen more often in fetuses with chromosomal abnormalities and/or renal or urogenital malformations.

• Chromosome studies should be sent on amniotic fluid, cord blood or amnion in the case of a severely macerated stillborn. A sample of lung, fascia or umbilical cord may also be analyzed when it is unlikely that skin fibroblasts are still viable.

• With parental consent, an autopsy should be considered to provide the most accurate information regarding the cause of death and possible syndromic diagnosis. Finding a non-genetic cause for pregnancy loss is often reassuring to a couple considering future pregnancies.

C. Sample Collection

• Cord blood for chromosome studies (ideally 3cc) should be collected in a sterile container treated with heparin. A green top test tube is best if it is available. Cord blood can also be save for DNA testing and should be collected in a purple top tube.

• Tissue samples should be washed with sterile saline and placed in tissue culture media or on a sterile gauze soaked with sterile saline. Tissue should be kept at room temperature or in a refrigerator overnight and should not be submerged in saline.