Objectives: To examine the evolution of tetralogy of Fallot (TOF) and outlet ventricular septal defect (VSD) with anterior malalignment (am) from the initial diagnosis at early fetal echocardiography through the gestation and to evaluate the impact of the first-trimester scan on the outcome. Methods: We identified cases of TOF or outlet VSD with am diagnosed before 16 weeks’ gestation. For all cases, prenatal data and pregnancy outcomes were evaluated. In continuing pregnancies, the evolution in severity of the disease was assessed. Results: Fifty-one fetuses with TOF or outlet VSD with am were diagnosed at early fetal echocardiography. Parents opted for termination of pregnancy in all 23 cases associated with additional anomalies. In 2 of 28 continuing pregnancies, there was an intrauterine death. In the remaining 26, there was progression in severity in 7 (by 20–22 weeks in 3 cases and during the third trimester in the remaining 4). Conclusions: TOF and outlet VSD with am diagnosed before 16 weeks’ gestation can progress in severity throughout pregnancy in over one-quarter of cases. In addition, a high proportion of cases diagnosed in the first trimester may have associated extracardiac anomalies, with a significant impact on clinical management and on the rate of early termination of pregnancy.

1.
Trines
J
,
Hornberger
LK
.
Evolution of heart disease in utero
.
Pediatric Cardiol
.
2004
;
25
:
287
98
.
2.
Lopez
L
,
Houyel
L
,
Colan
SD
,
Anderson
RH
,
Béland
MJ
,
Aiello
VD
, et al.
Classification of ventricular septal defects for the eleventh iteration of the international classification of diseases-striving for consensus: a report from the International Society for Nomenclature of Paediatric and Congenital Heart Disease
.
Ann Thorac Surg
.
2018 Nov
;
106
(
5
):
1578
89
.
3.
Yagel
S
,
Weissman
A
,
Rotstein
Z
,
Manor
M
,
Hegesh
J
,
Anteby
E
, et al.
Congenital heart defects: natural course and in utero development
.
Circulation
.
1997
;
96
:
550
5
.
4.
Poon
LC
,
Huggon
IC
,
Zidere
V
,
Allan
LD
.
Tetralogy of Fallot in the fetus in the current era
.
Ultrasound Obstet Gynecol
.
2007
;
29
:
625
7
.
5.
Volpe
P
,
De Robertis
V
,
Campobasso
G
,
Tempesta
A
,
Volpe
G
,
Rembouskos
G
.
Diagnosis of congenital heart disease by early and second-trimester fetal echocardiography
.
J Ultrasound Med
.
2012
;
31
:
563
8
.
6.
Zidere
V
,
Bellsham-Revell
H
,
Persico
N
,
Allan
LD
.
Comparison of echocardiographic findings in fetuses at less than 15 weeks’ gestation with later cardiac evaluation
.
Ultrasound Obstet Gyencol
.
2013
;
42
:
679
86
.
7.
Heling
KS
,
Chaoui
R
.
Early fetal echocardiography: results from the first trimester screening in a 3 year period
.
Ultrasound Obstet Gynecol
.
2008
;
32
:
264
.
8.
Rasiah
SV
,
Publicover
M
,
Ewer
AK
,
Khan
KS
,
Kilby
MD
,
Zamora
J
.
A systematic review of the accuracy of first-trimester ultrasound examination for detecting major congenital heart disease
.
Ultrasound Obstet Gynecol
.
2006
;
28
:
110
6
.
9.
Persico
N
,
Moratalla
J
,
Lombardi
CM
,
Zidere
V
,
Allan
L
,
Nicolaides
KH
.
Fetal echocardiography at 11–13 weeks by transabdominal high-frequency ultrasound
.
Ultrasound Obstet Gynecol
.
2011
;
37
:
296
301
.
10.
Votino
C
,
Cos
T
,
Abu‐Rustum
R
,
Dahman Saidi
S
,
Gallo
V
,
Dobrescu
O
, et al.
Use of spatiotemporal image correlation at 11–14 weeks’ gestation
.
Ultrasound Obstet Gynecol
.
2013
;
42
:
669
78
.
11.
Wong
SF
,
Ward
C
,
Lee-Tannock
A
,
Le
S
,
Chan
FY
.
Pulmonary artery/aorta ratio in simple screening for fetal outflow tract abnormalities during the second trimester
.
Ultrasound Obstet Gynecol
.
2007
;
30
:
275
80
.
12.
Fukuda
T
,
Suzuki
T
,
Ito
T
.
Clinical and morphologic features of perimembranous ventricular septal defect with overriding of the aorta: the so-called Eisenmenger ventricular septal defect. A study making comparisons with tetralogy of Fallot and perimembranous ventricular defect without aortic overriding
.
Cardiol Young
.
2000
;
10
:
343
52
.
13.
Hyett
JA
,
Perdu
M
,
Sharland
GK
,
Snijders
RS
,
Nicolaides
KH
.
Increased nuchal translucency at 10–14 weeks of gestation as a marker for major cardiac defects
.
Ultrasound Obstet Gynecol
.
1997
;
10
:
242
6
.
14.
Ghi
T
,
Huggon
I
,
Zosmer
N
,
Nicolaides
K
.
Incidence of major structural cardiac defects associated with increased nuchal translucency but normal karyotype
.
Ultrasound Obstet Gynecol
.
2001
;
18
:
610
4
.
15.
Bilardo
CM
,
Pajkrt
E
,
de Graaf
I
,
Mol
BW
,
Bleker
OP
.
Outcome of fetuses with enlarged nuchal translucency and normal karyotype
.
Ultrasound Obstet Gynecol
.
1998
;
11
:
401
6
.
16.
De Robertis
V
,
Rembouskos
G
,
Fanelli
T
,
Volpe
G
,
Muto
B
,
Volpe
P
.
The three-vessel and trachea view (3VTV) in the first trimester of pregnancy: an additional tool in screening for congenital heart defects (CHD) in an unselected population
.
Prenatal Diagn
.
2017 Jul
;
37
(
7
):
693
8
.
17.
Pepas
LP
,
Savis
A
,
Jones
A
,
Sharland
GK
,
Tulloh
RM
,
Simpson
JM
.
An echocardiographic study of tetralogy of Fallot in the fetus and infant
.
Cardiol Young
.
2003 Jun
;
13
(
3
):
240
7
.
18.
Allan
LD
,
Sharland
GK
.
Prognosis in fetal tetralogy of Fallot
.
Pediatr Cardiol
.
1992
;
13
:
1
4
.
19.
Kenkhuis
MJA
,
Bakker
M
,
Bardi
F
,
Fontanella
F
,
Bakker
MK
,
Fleurke-Rozema
JH
, et al.
Effectiveness of 12–13 weeks scan for early diagnosis of fetal congenital anomalies in the cell-free DNA era
.
Ultrasound Obstet Gynecol
.
2018 Apr
;
51
(
4
):
463
9
.
20.
Huggon
IC
,
Ghi
T
,
Cook
AC
,
Zosmer
N
,
Allan
LD
,
Nicolaides
KH
.
Fetal cardiac abnormalities identified prior to 14 weeks gestation
.
Ultrasound Obstet Gynecol
.
2002
;
20
:
22
9
.
21.
Hoffman
JI
.
Incidence of congenital heart disease: II. Prenatal incidence
.
Pediatr Cardiol
.
1995
;
16
:
155
65
.
22.
Tennstedt
C
,
Chaoui
R
,
Körner
H
,
Dietel
M
.
Spectrum of congenital heart defects and extracardiac malformations associated with chromosomal abnormalities: results of a seven year necropsy study
.
Heart
.
1999
;
82
:
34
9
.
23.
Hornberger
LK
,
Sanders
SP
,
Sahn
DJ
,
Rice
MJ
,
Spevak
PJ
,
Benaceraff
BR
, et al.
In utero pulmonary artery and aortic growth and potential for progression of pulmonary outflow tract obstruction in tetralogy of Fallot
.
JACC
.
1995 Mar 1
:
25
:
739
45
.
Copyright / Drug Dosage / Disclaimer
Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.
You do not currently have access to this content.