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2000-06-29-21 Trisomy 18, 11 weeks with nuchal translucency  © Valero www.thefetus.net/


Trisomy 18, 11 weeks with nuchal translucency

Philippe Jeanty, MD, PhD Gloria Valero, MD,

This fetus presented with a thick nuchal translucency (6 mm) (1.4 MB video). The examination of the heart (1.8 MB video) appears to demonstrate the great vessels side-by-side (such as in transposition of the great arteries), and an apparent large atrioventricular septal defect. Note that the heart is only 4-5 mm. A chorionic villus sampling was performed which revealed a trisomy 18. Because of the size of the fetus, no autopsy could be performed and the cardiac diagnoses are only speculative. Several articles have suggested that cardiac anomalies were the cause of some thick nuchal translucencies[1],[2],[3],[4],[5],[6],[7],[8],[9],[10],[11].

 

The spine of the fetus is on the left of the image. Note the large nuchal lucency. Great vessels side-by-side suggesting a transposition of the great arteries (not autopsy proven). White dots on the side of the image are 10 mm apart.

  

 

In these images the fetus has turned and the back is towards the bottom of the image, the left of the fetus is on the right of the images. The apex is at 12-1 o’clock. Note the small size of the heart, white dots on the side of the image are 10 mm apart. The black and white images fail to demonstrate the normal atrioventricular valves and the septum. The color frames demonstrate what appears to be absence of the portion of the interventricular septum close to the crux of the heart. These findings are consistent with an atrioventricular septal defect (not autopsy proven).

References


[1] Murta CG, Moron AF, Avila MA.Reversed diastolic umbilical artery flow in the first trimester associated with chromosomal fetal abnormalities or cardiac defects. Obstet Gynecol. 2000 Jun;95(6 Pt 2):1011-3.

[2] Chaoui R, Machlitt A, Tennstedt C. Prenatal diagnosis of ventriculo-coronary fistula in a late first-trimester fetus presenting with increased nuchal translucency. Ultrasound Obstet Gynecol. 2000 Feb;15(2):160-2.

[3] Murta CG, Moron AF, de Avila MA.Detection of functional changes of the fetal heart in the first trimester of gestation. Arq Bras Cardiol. 1999 Jun;72(6):739-50.

[4] Matias A, Huggon I, Areias JC, Montenegro N, Nicolaides KH. Cardiac defects in chromosomally normal fetuses with abnormal ductus venosus blood flow at 10-14 weeks. Ultrasound Obstet Gynecol. 1999 Nov;14(5):307-10.

[5] Carvalho JS. Nuchal translucency, ductus venosus and congenital heart disease: an important association--a cautious analysis. Ultrasound Obstet Gynecol. 1999 Nov;14(5):302-6.

[6] Jemmali M, Valat AS, Poulain P, Favre R, Bourgeot P, Subtil D, Puech F. Nuchal translucency: screening for chromosomal abnormalities and congenital malformations. Multicenter study. J Gynecol Obstet Biol Reprod (Paris). 1999 Oct;28(6):538-43.

[7] Schwarzler P, Carvalho JS, Senat MV, Masroor T, Campbell S, Ville Y. Screening for fetal aneuploidies and fetal cardiac abnormalities by nuchal

translucency thickness measurement at 10-14 weeks of gestation as part of

routine antenatal care in an unselected population. Br J Obstet Gynaecol. 1999 Oct;106(10):1029-34.

[8] Zosmer N, Souter VL, Chan CS, Huggon IC, Nicolaides KH. Early diagnosis of major cardiac defects in chromosomally normal fetuses with increased nuchal translucency. Br J Obstet Gynaecol. 1999 Aug;106(8):829-33.

[9] Kurjak A, Kupesic S, Matijevic R, Kos M, Marton U. First trimester malformation screening. Eur J Obstet Gynecol Reprod Biol. 1999 Jul;85(1):93-6.

[10] Hyett J, Perdu M, Sharland G, Snijders R, Nicolaides KH. Using fetal nuchal translucency to screen for major congenital cardiac defects at 10-14 weeks of gestation: population based cohort study. BMJ. 1999 Jan  9;318(7176):81-5.

[11] Gicquel JM, Potier A, Camillieri JF, Grinneiser D, Rouault F. Congenital heart disease and nuchal translucency with normal karyotype. Report of 3 cases. J Gynecol Obstet Biol Reprod (Paris). 1998 Oct;27(6):625-8.

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