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2013-10-29-17 Fetal akinesia deformation sequence © Safonova
Fetal akinesia deformation sequence

Ultrasound department of Kharkiv Regional Perinatal Center. Kharkiv Medical Academy of postgraduated education, Ukraine.

Case report

A 28-year-old primigravida with non-contributive history was referred to our department at 34 weeks of gestation due to fetal hydrops. Her first and second trimester ultrasonographic examinations were reported to be normal.
Our ultrasonographic examination found following findings:

- growth restricted female akinetic fetus with normal umbilical artery diastolic flow;
- abnormal position of fetal limbs;
- the hydrops was not present;
- polyhydramnios (AFI 320 mm) with a sludge within the amniotic fluid;
- diaphragmatic hernia with stomach within the thoracic cavity;

Our suspected diagnosis was fetal akinesia deformation sequence (arthrogryposis multiplex congenita with pulmonary hypoplasia; Pena-Shokeir syndrome). 

The newborn was delivered prematurely and postnatal adaptation was poor. The neonate with multiple joint ankylosis was unable to move normally. Additionally cleft palate was found and breathing problems of the neonate required her mechanical ventilation. Postnatal X-ray, before ventilation was performed, confirmed diaphragmatic hernia with displaced stomach within the thoracic cavity and pulmonary hypoplasia. One day later, after mechanical ventilation had been commenced, the X-ray was repeated and the stomach was found in normal position, which disputed the diagnosis of diaphragmatic hernia. Four months later the baby died and the autopsy confirmed the diaphragmatic hernia. 

Image 1 and video 1: 34 weeks; the image 1 shows significant polyhydramnios (AFI = 32 cm) as a result of decreased fetal swallowing. The video shows sludge within the amniotic fluid representing meconium released to the amniotic fluid due to anal sphincter dysfunction. Later, during delivery a yellow stained amniotic fluid was present. 


Image 3, 4, 5, and video 2: The images and video represent sagittal and transverse scans of the fetal abdomen and thorax showing suspected diaphragmatic hernia with herniated stomach within the thoracic cavity.



Images 7, 8: Postnatal X-ray of the fetal chest and abdomen. The images 7 shows X-ray of the neonate before ventilation was commenced - diaphragmatic hernia with herniated stomach within the thoracic cavity was suspected. The image 8 shows X-ray of the fetal chest and abdomen after mechanical ventilation had been commenced. The stomach was seen in normal position and so the diagnosis of the diaphragmatic hernia was disputed. 


Image 9: Postnatal image of the baby with 
akinesia deformation sequence.

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