Trisomy 18

Fernando Heredia MD Víctor Quiroz MD Carlos Henrí­quez MD

Departamento de Exploración Fetal, Servicio de Ginecologí­a y Obstetricia, Hospital "Guillermo Grant Benavente", and Departamento de Ginecologí­a y Obstetricia, Facultad de Medicina, Universidad de Concepción, Concepción Chile.

The patient is a 22-year-old G2P1, with no prenatal care who presented at 36 weeks of gestation. These are images of her ultrasound examination.

Normal face in between arms. No cleft lip.

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Fetal profile, intentionally not truly sagittal, to demonstrate the long eyebrows (as in Cornelia De Lange syndrome).

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True sagittal profile that demonstrate the micrognathia and the medial aspect of the eyebrows (no synophris though).

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Dilated cisterna magna at 12 mm. Axial and sagittal views.

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Persistent choroid plexus cyst (remember this is a 36 week pregnancy). Axial and sagittal views.

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Normal right ear and shoulder.

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Atrioventricular septal defect with left ventricle hypoplasia.

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Small omphalocele which had only intestines in it.

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Fetal gender.

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Left fetal hand. Notice the peculiar position of the thumb.

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Clenched fist of the right hand.

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The fetus had a severe intrauterine growth restriction.

On the basis of these findings we recommended a genetic amniocentesis, but the patient declined it. She returned  at 38 weeks complaining that she had not felt her baby move for the previous 3 days. We confirmed that the fetus was dead. The day after she delivered a 1800 grams macerated boy. These are the post delivery photos:

The picture of the whole macerated stillborn. Notice also the small omphalocele.

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This is the back view of the baby. Note the hirsutism.

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This face demonstrates:

  • small mouth,

  • low set ears,

  • long eyebrows,

  • hirsutism,

  • small nose and

  • blepharophimosis.

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In this photo we can clearly see the microretrognathia.

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Feet: There is bilaterally a deep defect between the 1st and 2nd toe almost to the point of ectrodactyly. We did not found this anomaly during the prenatal sonography. This confirms that you only see what you are prepared to see.....

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The clenched fist with hitch-hiker thumb.

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Notice the hypoplasia of all the fingers and nails.

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After this pictures were taken, we obtained a skin biopsy that confirmed the suspicion of Trisomy 18.

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