Abstract
Introduction: This study aimed to compare the spectrum of cardiac anomalies, associated comorbidities, and outcomes in fetuses suspected of congenital heart disease (CHD) at less than 14 weeks’ gestation with those in the later gestations. Methods: We conducted a 3-year retrospective study involving 352 fetuses suspected of CHD at our institution. The fetuses were divided into two groups based on the gestational age at which the CHD was initially detected. Initial CHD suspicion was noted within 14 weeks, forming group I. The remaining fetuses, initially suspected of CHD after 14 weeks, constituted group II. The type of CHD, ultrasound soft markers (USMs), associated extracardiac structural abnormalities (ECSAs), genetic testing results, and pregnancy outcomes were retrieved. Results: The types of CHD in group I (n = 76) were less varied than those in group II (n = 276). Isolated CHD was significantly more prevalent in group II (odds ratio [OR] = 0.170, 95% confidence interval [CI]: 0.092–0.316, p < 0.001). The frequency of ECSA and USMs was significantly greater in Group I (OR = 1.816, 95% CI: 1.180–2.795, p < 0.01; OR = 4.400, 95% CI: 3.375–5.737, p < 0.001, respectively). Chromosomal abnormalities were more prevalent in group I than in group II (65.0% vs. 16.5%, p < 0.001). There were no significant differences in termination rates between the two groups (OR = 1.099, 95% CI: 1.023–1.179, p = 0.043). Conclusion: The spectrum of diagnosed cardiac abnormalities differs between early and mid stages. Non-isolated cardiac abnormalities and chromosomal anomalies are more readily detectable in the early stages of pregnancy before the formal establishment of early cardiac screening programs. Early suspicion of cardiac anomalies may not be the predominant factor driving the termination decision.
Journal Section:
Prenatal Diagnosis
References
1.
Ministry of Health of the People’s Republic of China
. The Chinese national report on birth defects
. Available from: http://www.gov.cn/gzdt/att/att/site1/20120912/1c6f6506c7f811bacf9301.pdf2.
Werner
H
, Latal
B
, Valsangiacomo Buechel
E
, Beck
I
, Landolt
MA
. The impact of an infant's severe congenital heart disease on the family: a prospective cohort study
. Congenit Heart Dis
. 2014
;9
(3
):203
–10
. 3.
Gembruch
U
, Knöpfle
G
, Chatterjee
M
, Bald
R
, Hansmann
M
. First-trimester diagnosis of fetal congenital heart disease by transvaginal two-dimensional and Doppler echocardiography
. Obstet Gynecol
. 1990
;75
(3 Pt 2
):496
–8
.4.
Karim
JN
, Bradburn
E
, Roberts
N
, Papageorghiou
AT
; ACCEPTS study
. First-trimester ultrasound detection of fetal heart anomalies: systematic review and meta-analysis
. Ultrasound Obstet Gynecol
. 2022
;59
(1
):11
–25
. 5.
Bsat
F
, Fisher
BM
, Malisch
T
, Jain
V
. Fetal echocardiogram and detailed first trimester obstetric ultrasound: ICD-10 indications
. Am J Perinatol
. 2023
;40
(1
):25
–7
. 6.
Karadzov Orlic
N
, Egic
A
, Damnjanovic-Pazin
B
, Lukic
R
, Joksic
I
, Mikovic
Z
. Screening performance of congenital heart defects in first trimester using simple cardiac scan, nuchal translucency, abnormal ductus venosus blood flow and tricuspid regurgitation
. Congenit Heart Dis
. 2019
;14
(6
):1094
–101
. 7.
Turan
S
, Goetzinger
KR
. First-trimester fetal heart evaluation: time to move forward
. Ultrasound Obstet Gynecol
. 2021
;57
(5
):677
–80
. 8.
Carvalho
JS
, Carvalho
JS
, Allan
LD
, Chaoui
R
, Copel
JA
, DeVore
GR
, et al. ISUOG Practice Guidelines (updated): sonographic screening examination of the fetal heart
. Ultrasound Obstet Gynecol
. 2013
;41
(3
):348
–59
. 9.
Nicolaides
KH
, Azal
G
, Snijders
RJM
, Gosden
CM
. Fetal nuchal edema: associated malformations and chromosomal defects
. Fetal Diagn Ther
. 1992
;7
(2
):123
–31
.10.
Bahado-Singh
RO
, Mendilcioglu
I
, Rowther
M
, Choi
SJ
, Oz
U
, Yousefi
NF
, et al. Early genetic sonogram for Down syndrome detection
. Am J Obstet Gynecol
. 2002
;187
(5
):1235
–8
. 11.
Makrydimas
G
, Sotiriadis
A
, Ioannidis
JPA
. Screening perfor-mance of first-trimester nuchal translucency for major cardiac defects: a meta-analysis
. Am J Obstet Gynecol
. 2003
;189
(5
):1330
–5
. 12.
Alanen
J
, Leskinen
M
, Sairanen
M
, Korpimaki
T
, Kouru
H
, Gissler
M
, et al. Fetal nuchal translucency in severe congenital heart defects: experiences in Northern Finland
. J Matern Fetal Neonatal Med
. 2019
;32
(9
):1454
–60
. 13.
Ebrashy
A
, Aboulghar
M
, Elhodiby
M
, El-Dessouky
SH
, Elsirgany
S
, Gaafar
HM
, et al. Fetal heart examination at the time of 13 weeks scan: a 5 years’ prospective study
. J Perinat Med
. 2019
;47
(8
):871
–8
. 14.
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 Gynecol
. 2013
;42
(6
):679
–86
. 15.
Baumgartner
H
, De Backer
J
, Babu-Narayan
SV
, Budts
W
, Chessa
M
, Diller
GP
, et al. 2020 ESC guidelines for the management of adult congenital heart disease
. Eur Heart J
. 2021
;42
(6
):563
–645
. 16.
Ohuchi
H
, Kawata
M
, Uemura
H
, Akagi
T
, Yao
A
, Senzaki
H
, et al. JCS 2022 guideline on management and re-interventional therapy in patients with congenital heart disease long-term after initial repair
. Circ J
. 2022
;86
(10
):1591
–690
. 17.
Donofrio
MT
, Moon-Grady
AJ
, Hornberger
LK
, Copel
JA
, Sklansky
MS
, Abuhamad
A
, et al. Diagnosis and treatment of fetal cardiac disease: a scientific statement from the American Heart Association
. Circulation
. 2014
;129
(21
):2183
–242
. 18.
Minnella
GP
, Crupano
FM
, Syngelaki
A
, Zidere
V
, Akolekar
R
, Nicolaides
KH
. Diagnosis of major heart defects by routine first-trimester ultrasound examination: association with increased nuchal translucency, tricuspid regurgitation and abnormal flow in ductus venosus
. Ultrasound Obstet Gynecol
. 2020
;55
(5
):637
–44
. 19.
Qiu
X
, Weng
Z
, Liu
M
, Chen
X
, Wu
Q
, Ling
W
, et al. Prenatal diagnosis and pregnancy outcomes of 1492 fetuses with congenital heart disease: role of multidisciplinary-joint consultation in prenatal diagnosis
. Sci Rep
. 2020
;10
(1
):7564
. 20.
Nakao
M
, Kuwabara
M
, Saito
M
, Horiuchi
C
, Morisaki
H
, Kishiki
K
, et al. Association between parental decisions regarding abortion and severity of fetal heart disease
. Sci Rep
. 2024
;14
(1
):15055
. 21.
Spingler
T
, Sonek
J
, Hoopmann
M
, Prodan
N
, Abele
H
, Kagan
KO
. Complication rate after termination of pregnancy for fetal defects
. Ultrasound Obstet Gynecol
. 2023
;62
(1
):88
–93
. 22.
Korenromp
MJ
, Christiaens
GC
, van den Bout
J
, Mulder
EJ
, Hunfeld
JA
, Bilardo
CM
, et al. Long-term psychological consequences of pregnancy termination for fetal abnormality: a cross-sectional study
. Prenat Diagn
. 2005
;25
(3
):253
–60
. 23.
Allan
LD
, Sharland
G
, Tynan
MJ
. The natural history of the hypoplastic left heart syndrome
. Int J Cardiol
. 1989
;25
(3
):341
–3
. 24.
Axt-Fliedner
R
, Kreiselmaier
P
, Schwarze
A
, Krapp
M
, Gembruch
U
. Development of hypoplastic left heart syndrome after diagnosis of aortic stenosis in the first trimester by early echocardiography
. Ultrasound Obstet Gynecol
. 2006
;28
(1
):106
–9
. 25.
Jicinska
H
, Vlasin
P
, Jicinsky
M
, Grochova
I
, Tomek
V
, Volaufova
J
, et al. Does first-trimester screening modify the natural history of congenital heart disease? Analysis of outcome of regional cardiac screening at 2 different time periods
. Circulation
. 2017
;135
(11
):1045
–55
. 26.
Klein
SK
, Cans
C
, Robert
E
, Jouk
PS
. Efficacy of routine fetal ultrasound screening for congenital heart disease in Isère county, France
. Prenat Diagn
. 1999
;19
(4
):318
–22
. 27.
Duta
S
, Veduta
A
, Vayna
AM
, Panaitescu
A
, Nedelea
F
, Peltecu
G
. The outcome of structural heart defects diagnosed in the first trimester of pregnancy
. J Matern Fetal Neonatal Med
. 2021
;34
(9
):1389
–94
. © 2025 S. Karger AG, Basel
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.
2025
You do not currently have access to this content.
