FREQUENCY OF CARDIAC DEFECTS IN

CHROMOSOMALLY NORMAL FETUSES WITH

INCREASED NUCHAL TRANSLECENCY (1)

 

 

 

Nuchal translucency
thickness (mm)

Frequency of
Cardiac Defects

2.5 - 3.4
3.5 - 4.4
4.5 - 5.4
> 5.5
Overall

5.4/1000
26.6/1000
53.8/1000
232.6/1000
17.3/1000

 

·        In a meta-analysis of 16 studies of chromosomally normal fetuses with increased NT, a cardiac defect was found in 17/416 fetuses (4%) (2).

·        In a recent study (3), major cardiac defects were identified in 4/50 children (8%) at 2.4-7.1 years of age.

 

 

 

TYPES OF CONGENITAL HEART DISEASE IN FETUSES WITH INCREASED NUCHAL TRANSLUCENCY AND NORMAL KARYOTYPE (4)

 

 

  1. Left heart lesions:

·        Hypoplastic left heart syndrome (mitral and/or aortic atresia).

·        Coarctation of the aorta.

·        Aortic valve stenosis.

  1. Right heart lesions:

·        Tricuspid atresia (with pulmonary stenosis/ with transposition of the great vessels).

·        Ebstein’s anomaly.

·        Pulmonary valve stenosis.

  1. Atrioventricular septal defect (isolated; with coarctation; with Tetralogy of Fallot).
  2. Ventricular septal defect (muscular; peri-membranous; malalignment with valvular PS).
  3. Transposition of the great vessels.
  4. Atrial isomerism (left and right).

 

 

 

REFERENCES

 

  1. Hyett JA, Perdu M, Sharland GK et.al. Increased nuchal translucency at 10-14 weeks gestation as a marker for major cardiac defects. Ultrasound Obstet Gynecol 1997;10:242-246.
  2. Souka AP, Snijders RJM, Novakov A et.al. Defects and syndromes in chromosomally normal fetuses with increased nuchal translucency thickness at 10-14 weeks of gestation. Ultrasound Obstet Gynecol 1998;11:391-400.
  3. Hippala A, Eronen M, Taipale P et.al. Fetal nuchal translucency and normal chromosomes: a long term follow up study. Ultrasound Obstet Gynecol 2001;18:18-22.
  4. Simpson JM, Sharland GK. Nuchal translucency and congenital heart defects: heart failure or not? Ultrasound Obstet Gynecol 2000;16:30-36.