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 2018-01-23  Case of the week # 465  © Olga Ivanitskaya  www.TheFetus.net
Answer to the case of the week # 465
March 1 - March 15, 2018

Olga Ivanitskaya
, MD, PhD, Natalia Odegova, MD.
Moscow Regional Research Institute of Obstetrics and Gynecology, Medical-Genetics Department, Moscow, Russia
 

Case report
 
A 27-year-old woman (G3P1), with non-contributive history, was referred to our department after her third trimester scan due to multiple congenital anomalies and suspicion of Edward syndrome. The patient’s first child was healthy.
No anomalies were detected during the 12 weeks scan with low risk of aneuploidies.
The pregnancy course was unremarkable with normal fetal growth rates as reported by patient. 
 

At 34 weeks 4 days of pregnancy visualization was difficult because of polyhydramnios (AFI 37,7 sm).

There were growth retardation and severe microcephaly (HC corresponded to the 27.3 wks, AC - 30.5 wks, FL - 34.0 wks) with abnormal gyral pattern and large subarachnoid space. Cerebellum appeared to be non-affected and corresponded to the 27-28 weeks of pregnancy. Because of narrow cranial sutures the visibility was very limited, so we couldn't estimate the corpus callosum appropriately.
 
The fetal profile showed micrognathia, sloping forehead and prominent occiput. Also there was increased nuchal fold and poorly folded ears. 
 
The position of the fetal arms and legs didn't change during the whole examination. Both legs were straightened without hip, knee or ankle joint movements. Both arms were flexed in the elbow and wrist joints with a peculiar placement of the fingers. The fetal movements were almost absent.
 
The heart, kidney, bowels and bladder appeared to be normal but the stomach didn't filling due to decreased fetal swallowing. 
 
Our preliminary diagnosis was fetal akinesia sequence (Pena-Shokeir syndrome, arthrogryposis multiplex congenita with pulmonary hypoplasia). One week later at 35 weeks premature birth occurred. Female live newborn 1870 g/50 cm was delivered with Apgar score 1 at 1st minute. Resuscitation was ineffective and the baby died 5 minutes later. The autopsy revealed severe lung hypoplasia and the karyotype was 46XX. The geneticist confirmed our diagnosis. 
 
 
Images 1 and 2; videos 1 and 2: 2D images of the fetal head. Note the poor visibility because of narrow cranial sutures and disturbance of the architecture of the brain structures, with abnormal gyral pattern and large subarachnoid space.

 
 



Images 3 and 4: 2D of the fetal profile with micrognathia, sloping forehead and prominent occiput.

 



Images 5 and 6
:.  2D images showing increased nuchal fold and poorly folded ears.

 



Images 7, 8 and 9: The fetal limbs and fingers placement. Also note the fetal profile.

  



Videos 4 and 5:
the heart, kidney, bowel and bladder appeared to be normal but the stomach didn't filling due to decreased fetal swallowing. 
 
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