1st AND
M.H. Lauridsen1, O.B. Petersen2, E.M. Vestergaard3, N. Uldbjerg2, T.B. Henriksen1, J.R. Østergaard1, N.B. Matthiesen1, V.E.
1 Department of Paediatrics, Aarhus University Hospital, Denmark
2 Department of Obstetrics and Gynaecology, Aarhus University Hospital, Denmark
3 Department of Clinical Genetics, Aarhus University Hospital, Denmark
4 Department of Cardio-Thoracic Surgery, Aarhus University Hospital, Denmark
Background: Congenital heart disease (CHD) is
associated with neuro-developmental disorders. The
influence of CHD on the brain may be present in the
fetus. We hypothesize that fetal cerebral growth is
impaired as early as 2nd trimester.
Aim: To investigate if fetal cerebral growth is
associated with major and minor CHD.
Q-diagnoses CHD*
Method: Pregnant women in Denmark (more than
95%) attend two publicly funded ultrasound scans;
around 12 and 20 weeks gestational age (GA). During
the first scan fetal bi-parietal-diameter (BPD) is
routinely obtained. During the second scan fetal headcircumference (HC) is obtained and screening for fetal
malformations is carried out. Our cohort includes all
fetuses in Western Denmark (2.9 million inhabitants)
screened in between January 1st 2012 and December
31st 2013, diagnosed with any structural, nonsyndromic congenital heart disease either during
pregnancy or up to 6 months after birth.
Results****: 276 fetuses with CHD were identified.
114 (41%) were genetically screened primarily by
chromosomal microarray analysis (n=82). Fetuses
with identified chromosomal abnormalities were
excluded (flow chart) as were multiple gestation
fetuses and fetuses with major extra cardiac
malformations. Data from 208 fetuses (75%) with
presumed non-syndromic CHD were included, 85
(41%) with minor and 123 (59%) with major CHD. Zscores for head size were analysed (table).
Astraia-search CHD
Invasive test results CHD
Fetuses with CHD identified n=276**
Chromosomal abnormalities n=29 (11%)
(Common aneuploidies n=14)
Multiple gestation n=26 (9%)***
Extra cardiac malformations n=15 (5%)
Fetuses with presumed non-syndromic CHD n=208 (75%)
Minor CHD n=85
Ventricular septal defect n= 46
Atrial septal defect n=30
Persistent arterial duct n=4
Double aortic arch n=3
Mild coarctation of the aorta n=2
BPD Z-score
GA week 12
(95% CI -0.1;0.3)
(95% CI -0.1;0,4)
HC Z-score
GA week 20
(95% CI -0.2;0.4)
(95% CI -0.6;-0.2)
BPD Z-scores in week 12 and HC Z-scores in week 20 were analysed
using students t-test (Stata 13).
Major CHD n=123
Hypoplastic left heart syndrome n=23
Transposition of the great arteries n=16
Coarctation of the aorta n=14
Tetralogy of Fallot n=13
Pulmonary atresia or stenosis n=13
Atrioventricular septal defect n=8
Hypoplastic aortic arch n=8
Double outlet right ventricle n=7
Totally anomalous pulmonary venous drainage n=5
Hypoplastic right heart syndrome n=3
Other n=13
Conclusions: Our preliminary results
suggest that Bi-parietal-diameter in
children with CHD is within the normal
range in the 1st trimester, but fetal
cerebral growth may be disrupted as
early as during 2nd trimester in major
* CHD=structural congenital heart disease
** Right aortic arch, persistent arterial duct when born before gestational week 37 and dextrocardia or situs inversus are considered normal variations
*** Two multiple gestation fetuses also fulfilled other exclusion criteria
**** Data-collection and analysis are on-going
Mette Høj Lauridsen, MD. Ph.D.-student. Departments of
paediatrics and thoracic surgery research, Aarhus University
Hospital. Denmark. Mail: [email protected]