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2015-09-20-22 Answer to the case of the week #405 © Cuillier www.TheFetus.net 


Answer to the case of the week #405

October 8, 2015 - October 22, 2015

Fabrice Cuillier, MD1;  J. L. Alessandri, MD2; B Doray, MD3; M. Balu, MD4.    

1. Department of Gynecology, Félix Guyon’Hospital, 97400 Saint-Denis, Ile de la Réunion, France;
2. Department of Neonatology, Félix Guyon’Hospital, 97400 Saint-Denis, Ile de la Réunion, France;
3. Department of Genetic, Félix Guyon’Hospital, 97400 Saint-Denis, Ile de la Réunion, France;
4. Department of Radiology, Félix Guyon’Hospital, 97400 Saint-Denis, Ile de la Réunion, France. 


Case report


A 42-year-old woman (G4P1) presented to our office at 30 weeks of pregnancy. Her previous nuchal translucency screening was reported to be normal (NT 1 mm, CRL 62 mm). Triple test was not done.


At the beginning of our meeting we noticed very weak handgrip of the mother. Following examination of the fetus revealed following findings:

- cryptorchidism;

- weak, sporadic swallowing of the fetus with only small filling of the stomach and mild polyhydramnios;

- motionless face of the fetus with thick philtrum and anteverted nostrils;

- hands with motionless fingers and bilateral clubfeet;

- normal cardiac morphology with normal rhythm;

- the fetus was hypokinetic during the whole examination.

Following amniocentesis found normal karyotype (46, XY) but further molecular genetic testing revealed expansion of CTG trinucleotide repeat in the non-coding region of DMPK (Dystrophia Myotonica Protein Kinase gene) confirming the diagnosis of the
myotonic dystrophy type 1 (Steinert's disease).

The mother has refused her own testing for the same disease and opted for the termination of the pregnancy.

Here are some of the images that we obtained:

Images 1, 2: Cryptorchidism

 

Images 3, 4, 5, 6, 7, and 8: Fetal face - the face was motionless during the scan with thick philtrum and anteverted nostrils. Mild polyhydramnios was also present.

 

 

 

Images 9, 10, 11, 12: Bilateral clubfeet and motionless fingers of hands,

 

 

Images 13, 14: Normal cardiac morphology (dysrhythmia was not present in our case), small filling of the stomach can also be seen.

 

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