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2010-09-15-15 Turner syndrome (monosomy X) © Grochal www.TheFetus.net

Turner syndrome (monosomy X) 

 

Frantisek Grochal, MD.

Femicare, s.r.o., Center of prenatal ultrasonographic diagnostics, Martin, Slovak republic. UVN SNP Ruzomberok, Gynecological and obstetrical department. Catholic University in Ruzomberok, Faculty of Health Care, Ruzomberok, Slovak republic.

 

Case report

A 28 year-old woman (G1P0) first time visited our center at 12+6 weeks of her pregnancy. Our ultrasound examination revealed multiple findings suspected of fetal Turner syndrome, which was later confirmed by karyotyping. Despite of our recommendation, the woman opted not to terminate the pregnancy. She had visited us again at 14+6 weeks and the pregnancy ended by miscarriage two weeks later. Overall our ultrasonographic examination revealed following findings:

- cystic hygroma;
- wide fronto-maxillary facial angle (90,5°) with normal nasal bone;
- incipient hydrothorax and pericardial effusion - fetal hydrops;
- hypoplastic left heart syndrome;
- tricuspid regurgitation and reversed flow at the level of the ductus venosus;
- incipient hydronephrosis and hyperechoic kidneys;
- shortening of the long bones (femur and humerus);
- single umbilical artery and omphalomesenteric cyst of the umbilical cord.

Images 1, 2, 3, 4: 14+6 weeks of pregnancy; the images show several 3D scans in different color modalities of the fetal head with massive cystic hydroma.
 
 

 

Video 1: 14+6 weeks of pregnancy; the video shows rotational 3D sequence of the fetal head with massive cystic hygroma.



Images 5, 6: 12+6 weeks of pregnancy; the images show sagittal and transverse scans of the fetal nuchal region with cystic hygroma.

 

Images 7, 8:
12+6 weeks of pregnancy; the images show tricuspid regurgitation (image 7) and reversed flow at the level of the ductus venosus (image 8).

 

Images 9, 10, 11:
12+6 weeks of pregnancy; the images show transverse scans of hydropic fetal thorax at the level of the four chamber view (images 9 and 10) with left to right ventricular disproportion due to hypoplastic left ventricle. Three vessel view of the heart showed hypoplastic aorta (image 11).

 



Images 12, 13, 14:
14+6 weeks of pregnancy; the images show tranverse scans via hydropic fetal thorax (image 12) and abdomen (image 13). The image 14 shows transverse scan of fetal thorax at the level of the four chamber view with hypoplastic left ventricle.

 



Images 15, 16:
Fetal kidneys at 12+6 (image 15) and 14+6 weeks (image 16) of pregnancy; incipient hydronephrosis and cystic changes can be seen.

 

Image 17:
12+6 weeks of pregnancy; the image show sagittal scan of the fetal face with wide fronto-maxillary facial angle and normal nasal bone.



Images 18, 19:
12+6 weeks of pregnancy; the image 18 shows female sex of the fetus and the image 19 shows single umbilical artery passing around poorly filled urinary bladder of the fetus.

 

Images 20, 21:
12+6 weeks of pregnancy; the images show sagittal (image 20) and transverse (image 21) scans of the omphalomesenteric cyst of the umbilical cord. Two-vessel cord can be seen using the color Doppler at the image 21.

 

Images 22, 23:
14+6 weeks of pregnancy; the image show shortened long bones (humerus - HL, and femur - FL) of the fetus.

 
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