1. In the name of god

2. Nuchal Translucency and Prenatal Diagnosis of Congenital Heart Disease

3. Case report
The patient is M.R ,27 years /G2L1/ 15 weeks : NT=3.6mm with CRL=52mm (12 weeks) Double marker : down syndrome risk =1/5590 Past medical history OB history : no problem

4. management Amniocentesis : 46 XX
Anomaly scan in 18 weeks :NF=6.5mm , left heart smaller right side, small aortic outflow
Fetal echo in 19 weeks : small to moderate PM.VSD ,mild TR, dilated RA & RV

5. Nuchal translucency
The NT measurement was first suggested as a soft marker for fetal aneuploidy by Nicolaides and colleagues in 1994.
In chromosomally normal fetuses, increasing NT is associated with adverse fetal outcomes.

6. an association has been identified between increased nuchal translucency thickness and congenital heart disease.
overall incidence of major cardiac defects to be 4.5% in fetuses with NT above 2.5 mm, with 7% incidence in fetuses with nuchal translucency thickness equal to or greater than mm.

7. Hyett et al reported that in a cohort of
29154 pregnancies, 56 % of the fetuses with major
CHD had an increased NT.

8. the median age for CHD diagnosis was 16
the median age for CHD diagnosis was 16.1 weeks of gestation when NT > 3.5 mm compared to 22.1 weeks of gestation when was < 3.5 mm .
The frequency of CHD varies from % when the NT is between 2.5 – 3.5 mm, to 64 % when the NT is above mm .

9. PATHOPHYSIOLOGY OF INCREASED NT
1-Cardiac failure in association with abnormalities of the heart and great arteries.
2-Venous congestion in the head and neck.
3-Altered composition of the extracellular matrix.
4-Abnormal or delayed development of the lymphatic system.
5-Failure of lymphatic drainage due to impaired fetal movement.
6-Fetal anemia or hypoproteinemia .
7. Congenital infection.

10. Tricuspid regurgitation and congenital heart disease
the etiology of the TR is still uncertain and may be related to the alterations in the hemodynamic balance of the 11 – 14 weeks fetus.

13. First Trimester US
Possible role for measurement of the ductus venosus

14. Abnormal ductus venosus Doppler flow and congenital heart disease
nuchal edema is caused by cardiac failure, due to intrinsic myocardial dysfunction or secondary to the CHD . An increased mRNA of cardiac atrial and
brain natriuretic peptide in trisomic fetuses with an increased NT seems to support this hypothesis .

15. there is no causal relationship between the increased NT and diastolic, systolic or global cardiac dysfunction by measuring the myocardial performance index and E/A ratio across the atrioventricular valves in normal and abnormal fetuses.

16. fetuses with an NT> 95th percentile, with
a tricuspid regurgitation or an abnormal DV flow
or NT over 99th percentile, it is indicated an earlier
echocardiogram and a repeat scan around 20 weeks of gestation .