Trisomy 13, two cases

Inessa Safonova

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

Case report

Following images and video shows two cases of trisomy 13. The first one was a patient who presented for the exam very late during her pregnancy, at 37 weeks; the second one was diagnosed at 13 weeks of pregnancy. Subsequent karyotyping confirmed the diagnoses.

Case 1

Images 1, 2: 37 weeks of pregnancy, trisomy 13; the image 1 shows fetal head with macrocrania and alobar holoprosencephaly. The image 2 shows abnormal facial profile with absent nasal bones.

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Images 3, 4: 37 weeks of pregnancy, trisomy 13; the images show postaxial polydactyly of the feet.

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Video 1: 37 weeks of pregnancy, trisomy 13; the video shows abnormal fetal face with prominent forehead, depressed nasal bridge and hypotelorism.



Case 2

Images 5, 6: 13 weeks of gestation, trisomy 13; the image 5 shows oblique transverse scan of the fetal head with holoprosencephaly. The image 6 shows coronal scan of the fetal face with hypotelorism.

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Images 7, 8: 13 weeks of gestation, trisomy 13; the image 7 shows hyperechoic bowels of the fetus. The image 8 shows color Doppler transverse scan of the fetal thorax at the level of the four chamber view of the heart with ventricular septal defect.

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Image 9: 13 weeks of gestation, trisomy 13; the image shows omphalocele of the fetus.

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