Fall, 2014



About one in every thirty-three babies is born with a birth defect, which is approximately 120,000 babies a year (Centers for Disease Control and Prevention, 2014). Ultrasound technology can be used to detect most birth defects before birth. Body stalk anomaly is a rare congenital malformation that can usually be detected by ultrasound within the first trimester and currently there are no risk factors that have been linked specifically to body stalk anomaly. This congenital malformation is due to a shortened umbilical cord that results in many associated anomalies, such as free floating abdominal organs and facial abnormalities.

Body stalk anomaly has been used with associated terms such as amniotic band syndrome, short umbilical cord syndrome, and limb body wall complex (Quijano, Rey, Echeverry, & Axt-Fliedner, 2014, p. 1). This is a severe defect of the abdominal wall, which includes evisceration of abdominal organs, thoracic organs (in severe cases), kyphoscoliosis, and the presence of a rudimentary umbilical cord, which is usually short or even absent (Quijano, Rey, Echeverry, & Axt-Fliedner, 2014, p. 3). This anomaly can be in conjunction with neural tube defects, genitouriniary malformation, abnormalities of the chest wall, intestinal atresia, and craniofacial defects (Quijano, Rey, Echeverry, & Axt-Fliedner, 2014, p. 1). There are different theories as to why this malformation occurs, but the most probable cause is thought to be an early amniotic rupture with subsequent focal thoracic wall disruption (Shibata, Terada, Igarashi, & Suzuki, 2014, p. 3).

This case study presents an 18 year old female, G3P0 SAB2, and no history of previous fetal abnormalities. The patient has not reported any discomfort or bleeding so far in the pregnancy. Clinically the patient reported to her regular Obstetrician for an 11 week ultrasound. The doctor reported findings of body stalk anomaly during the ultrasound and sent the patient to a high risk pregnancy center for further evaluation. The patient agreed to a maternal fetal medicine consultation and during the consultation the patient was informed on the severity of the ultrasound findings, such as the large abdominal wall defect, a short umbilical cord, and a curved spine.

During the first ultrasound at 11 weeks gestation the fetus was measuring 11 weeks 5 days. Sonographically there was an abdominal wall defect, short umbilical cord and abnormality of spine. The patient was scheduled to come back for a targeted anatomy scan four weeks later and during this exam the fetus was measuring 16 weeks 1 day. As seen in the previous ultrasound, the findings were still consistent with body stalk anomaly. The abdominal organs and thoracic organs, including the heart, were free floating within the amniotic cavity (image 3). The spine was shown abnormally angled (image 1) and the abnormally short umbilical cord was seen. Associated findings in the ultrasound included the cerebral ventriculomegaly measuring .95cm (image 2), an absent cavum septum pellucidum, a suspected facial cleft, a right clubbed foot and an abnormally postured left arm. Lastly, the distal right arm could not be determined. 


“For an appropriate diagnosis a midsagittal view of the fetus for the measurement of the crown-rump length together with the measurement of the nuchal translucency, an adequate sweep throughout the head, and the abdomen should identify all the cases of body stalk anomaly between 11 and 13 weeks of gestation (Quijano, Rey, Echeverry, & Axt-Fliedner, 2014, p. 3).” Currently the diagnostic test used to determine body stalk anomaly is a diagnostic ultrasound. Lab work can show elevated Maternal Serum Alpha-Fetoprotein if the organs are located outside of abdominal wall. To determine chromosomal or genetic etiology the option of amniocentesis is available to the patients. An amniocentesis was offered to the patient but she declined.

Body stalk anomaly is considered a lethal anomaly, especially if the heart is located outside of the chest (ectopia cordis). After reviewing many cases the safest treatment for the fetus and mother is termination of the pregnancy. If the pregnancy continues the baby will most likely pass within a few days after birth. Prognosis is very poor for babies with body stalk anomaly and due to the short umbilical cord the anterior wall of the fetus can be severely abnormal, as well as facial abnormalities, limb abnormalities, and spinal defects. Termination of pregnancy was not selected by the patient, even though she was informed that many women who carry fetuses with body stalk anomaly ultimately undergo a futile cesarean delivery because of failure to progress during the pregnancy (due to short umbilical cord associated with body stalk anomaly).

Most birth defects occur within the first three months of pregnancy. Testing and technology have evolved, which allows doctors to closely monitor pregnancies. Some birth defects can be prevented but can occur sporadically. Body stalk anomaly is currently considered a sporadic occurrence during pregnancy. Mothers, who are considered at risk for chromosomal or genetic anomalies have previously had babies with an abnormality, have family history of chromosomal abnormalities, or they are advanced in maternal age (greater than 35).

Image 3

In this sonographic image the thoracic and abdominal organs are located outside of the fetal abdomen. (Case study image retrieved from clinical experience, fall 2014)

Image 2

In this sonographic image ventriculomegaly (dilated lateral ventricles) is seen measuring 9.5mm. (Case study image retrieved from clinical experience, fall 2014)

Image 1

In this sonographic image kyphosis, also known as exaggerated rounding of the back is visualized. (Case study image retrieved from clinical experience, fall 2014)


Case Conclusion

Body stalk anomaly is a rare finding and has been reported in 1 in 15,000 pregnancies in the first trimester (Shibata, Terada, Igarashi, & Suzuki, 2014, p. 3). Most commonly, this anomaly is a sporadic occurrence. This case presents an 18 year old female, G3P0 SAB2, with no history of previous fetal abnormalities. During the 11th week of pregnancy the findings of body stalk anomaly were sonographically reported. The patient reported to a high risk pregnancy center where she was followed closely. Termination of the pregnancy was not selected by the patient, even though she was informed that many women who carry fetuses with body stalk anomaly ultimately undergo a futile cesarean delivery because of failure to progress during the pregnancy (due to short umbilical cord associated with body stalk anomaly). The prognosis of babies with body stalk anomaly is very poor.

References
Case Study Images. (Clinical Fall 2014). [Ultrasound Image].
Centers for Disease Control and Prevention. (2014, February 6). CDC - Birth Defects. Retrieved from http://www.cdc.gov/ncbddd/birthdefects/facts.html
Quijano, F. E., Rey, M. M., Echeverry, M., & Axt-Fliedner, R. (2014). Body Stalk Anomaly in a 9-week Pregnancy. Case Reports in Obstetrics and Gynecology. 1 -4. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/25105039
Shibata, Y., Terada, K., Igarashi, M., & Suzuki, S. (2014). Body Stalk Anomaly complicated by Ectopia Cordis in the First Trimester. Journal of Clinical and Diagnostic Research, 8(5), 1-4. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/24995220