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2013-04-021-11 Trisomy 21, Trisomy 13, and Monosomy X, first trimester © Juhas www.TheFetus.net

Trisomy 21, Trisomy 13, and Monosomy X, first trimester


Martin Juhás, MD*; Jozef Janovský, MD*; Jiří Šantavý, MD., Prof.**; Jiří Hyjánek, MD., PhD**; Peter Urdzík, MD., Doc.***.

*      Centre of fetal and gynecologic diagnostics, Juhamed, s.r.o., Kosice, Slovak Republic;
**    Department of Medical Genetic and Fetal Medicine, University Hospital, Olomouc, Czech Republic;
***  Department of Obstetrics and Gynecology, University Hospital, Kosice, Slovak Republic.

Case 1 - Trisomy 21 syndrome
A 34-year-old woman (G4P1) was referred to our center for a routine first trimester screening. The patient had been diagnosed to have antiphospholipid syndrome. Genetic testing after her previous miscarriages was not done. Our ultrasound examination found a 13-week old fetus (CRL 60.5 mm) with a few abnormalities raising suspicion of the Down syndrome:
  
nuchal translucency of 4.1 mm;
atrioventricular septal defect (AVSD) with atrioventricular regurgitation;
pseudocystic bilateral masses within the neck ("jugular sacs");
free beta-hCG and PAPP-A MoM were 4,653 and 0,526 respectively.

Combined risk of the first trimester screening result was >1:4 for Trisomy 21. Karyotyping was indicated and the patient underwent chorionic villus sampling subsequently. QF PCR (Quantitative Fluorescence Polymerase Chain Reaction) assessment confirmed the trisomy 21. The patients opted for the termination of the pregnancy at 14 weeks.

Images 1, 2: The images in midsagittal view show an increased nuchal translucency (NT 4.07 mm) with a normal nasal bone.

 

Images 3, 4: The image 3 shows atrioventricular regurgitation; the image 4 shows ductus venosus PI value (95th percentile) with the "a" wave approaching the basal line (insonation angle is not optimal).

 

Image 5, video 1: The image and the video show cystic bilateral mass in the fetal neck.  

 

Video 2, 3: The videos show location of cystic mass in the fetal neck.  

 

Images 6, 7: The images show atrioventricular septal defect of the heart. The drawings at the image 7 describes the defect (red arrowheads show remnants of the interventricular and interatrial septa; the yellow arrowheads show common atrio-ventricular; purple area shows the location of the defect).

 

Case 2 - Trisomy 13 syndrome

A 34-year-old woman (G1P0) was referred to our center for a routine first trimester screening. She had non-contributive personal and family histories. The scan revealed a pregnancy of 13 weeks gestation (CRL 64.2 mm) with following anomalies suspected for Trisomy 13 syndrome:
  
nuchal translucency of 5.90 mm;
abnormal profile with absent nasal bone;
alobar holoprosencephaly;
atrioventricular septal defect (AVSD) and tachycardia;
abnormal PI in ductus venosus with reversed flow; 
incipient edema of fetal body;
two-vessel umbilical cord;
free beta-hCG and PAPP-A MoM were 0,686 and 0,224 respectively.

Combined risk of the first trimester screening >1:4 for Trisomy 13 and karyotyping was indicated. The patient underwent chorionic villus sampling subsequently. QF PCR (Quantitative Fluorescence Polymerase Chain Reaction) assessment confirmed the Trisomy 13. The parent opted for the termination of the pregnancy.

Images 8, 9: The images in midsagittal view show an increased nuchal translucency (NT 5.90 mm) with abnormal fetal profile and absent nasal bone.

 

Images 10, 11, 12: The images show fetal holoprosencephaly using 3D Tomographic Ultrasound Imaging technique.

 



Image 13: The image shows 3D sectional planes identifying hypotelorism and normal hard palate.



Images 14, 15: The image 14 shows color doppler transverse scan of the atrioventricular defect at the level of the four-chamber-view of the heart. The image 15 shows color Doppler scan showing normal three-vessel-view of the heart.

 

Videos 4, 5: The videos show fetal heart at the level of the four-chamber-view with the atrioventricular septal defect.

 

Video 6: The video shows single umbilical artery passing around urinary bladder of the fetus.


Case 3 - Monosomy X syndrome

A 16-year-old woman (G1P0) was referred to our center for a routine first trimester screening. She had non-contributive personal and family histories. The scan revealed a pregnancy of 13 weeks gestation (CRL 61.0 mm), not corresponding to the last menstrual period. The examination showed several findings suspected of the Turner syndrome (Monosomy X):
  
increase nuchal translucency region, 10.9 mm;
cystic hygroma colli with septation;
cyst of the right choroid plexus;
wide frontomaxillary facial angle (88°) with normal nasal bone;
abnormal PI in ductus venosus with reversed flow;
incipient tachycardia;
incipient edema of fetal body and hyperechoic bowel;
short long bones (humerus and femur);
free beta-hCG and PAPP-A MoM were 0,546 and 0,439 respectively.

Combined risk of the first trimester screening was 1:2 for Trisomy 21, 1:4 for Trisomy 18, 1:8 for Trisomy 13. Amniocentesis was done and revealed Monosomy X (Turner syndrome). The pregnancy ended with miscarriage two days later.

Image 16: The image shows increase nuchal translucency of the fetus.



Images 17, 18: The images show 3D images of the fetus with cystic hygroma. 

 

Images 19, 20, 21, and video 7: The images and video show cystic hygroma of the fetus.

 

 


Image 22: The image shows cyst of the choroid plexus within the right lateral cerebral ventricle.


Images 23, 24: The image 23 shows wide frontomaxillary facial angle (88°) with normal presentation of the nasal bone. The image 24 show hyperechoic fetal bowels (red arrowheads).

 


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