TABLE 1.
General characteristics of the studies in fetuses with isolated VSD.
| References | Country | Study design | Study obsject | Study period (years) | Related risk criteria a | Fetuses diagnosed as isolated VSD | GA at diagnosis (weeks) |
|---|---|---|---|---|---|---|---|
| Svirsky et al. (2019) | Israel | Retrospective | Isolated muscular VSD | 2013–2017 | √ Low risk for trisomy 21 on their first trimester screen × Other abnormal finding during the anomaly scan |
40 | After 15 |
| Vedel et al. (2021) | Denmark | Prospective | Isolated VSD | 2014–2018 | √ cFTS risk for trisomy 21 was lower than 1:300 and lower than 1:150 for trisomy 18 and trisomy 13 calculated using the FMF algorithm √ Singleton pregnancy × Other prenatally detected malformations recorded × Second-trimester soft markers recorded: echogenic bowel, short femur, echogenic intracardiac focus, choroid plexus cyst |
153 | 18–21 |
| Lee et al. (2016) | USA | Retrospective | Isolated VSD | 2006–2012 | × Major intracardiac or extracardiac anomalies × Soft marker for aneuploidy: thickened nuchal skin fold, hypoplastic or absent nasal bone, echogenic bowel, ventriculomegaly, echongenic cardiac focus, renal pyelectasis, choroid plexus cyst, tricuspid regurgitation, short humerus or short femur, and 2 vessel cord × Abnormal serum screening × Multiple gestations |
112 | 20.9 ± 1.6 |
| Cai et al. (2018) | China | Retrospective | VSD | 2017–2018 | × Other cardiac anomalies × Extracardiac structural anomalies × Sonographic soft markers |
79 | 18–33 |
| Fu et al. (2017) | China | Retrospective | VSD | 2010–2015 | √ VSD as the only cardiac defect √ Normal karyotypes × Other cardiac anomalies × Extracardiac structural anomalies × Sonographic soft markers: echogenic foci in the heart or bowel, thickened nuchal fold, absent nasal bone, single umbilical artery, and persistent right umbilical vein, choroid plexus cysts |
73 | 17–35 |
| Du et al. (2016) | China | Retrospective | VSD | 2013–2014 | √ Normal karyotypes × Other cardiac anomalies × Extracardiac structural anomalies × Sonographic soft markers |
22 | 18–34 |
| Maya et al. (2020) | Israel | Retrospective | VSD | 2013-2017 | × Soft markers × Major anomalies × Growth/AFI anomalies |
568 | NS |
| Bahtiyar et al. (2008) | USA | Prospective | Isolated muscular VSD | 2005–2006 | × Any other sonographic abnormality in the fetus during a second-trimester anatomic survey × VSD as part of complex CHDs (e.g., atrioventricular septal defect, tetralogy of Fallot, and tricuspid atresia) |
16 | 20–34 |
| Shen et al. (2014) | Israel | Retrospective | Isolated VSD | 1995–2007 | × Maternal diabetes × Teratogenic exposure × Previous children with CHD × Prenatal diagnosis of a major malformation × Positive screen for trisomy 21 (on nuchal translucency testing with or without first trimester biochemical screening or second trimester triple testing with a calculated risk for DS greater than 1:380) × Soft signs for aneuploidy |
92 | 19–24 |
| Wang et al. (2023c) | China | Retrospective | VSD | 2012–2022 | × Sonographic soft markers × Extracardiac structural anomalies × Other cardiac anomalies × Known infected fetuses × Twin or multiple pregnancies × Exposure to known teratogenic drugs |
133 | 12–38 |
| Raucher Sternfeld et al. (2022) | Israel | Retrospective | Isolated VSD | 2012–2015 | × Other additional findings during anomaly scan | 86 | 22–28 |
| Cheng et al. (2022) | China | Retrospective | Isolated VSD | 2016–2020 | × Other ultrasound structural malformation at the time of antenatal and postnatal | 185 | 23–27 |
| Gordin Kopylov et al. (2022) | Israel | Retrospective | isolated perimembranous VSD | 2015–2021 | √ Perimembranous VSD was the only abnormal fetal finding × Additional cardiac or extracardiac malformations |
56 | 22–29 |
| Erol et al. (2014) | Turkey | Retrospective | Isolated muscular VSD | 2007–2012 | √ A defect in the interventricular septum without other sonographic abnormalities × Complex CHDs × Non-cardiac malformation × Known chromosomal abnormalities |
76 | 19–37 |
| Qiao et al. (2021) | China | Retrospective | CHD | 2018–2019 | × Additional extracardiac structural lesion | 102 | NS |
| Gómez et al. (2014) | Spain | NS | Isolated VSD | 2005–2011 | × Other structural anomalies at the time of diagnosis, i.e., other CHD, vascular anomalies and/or non-cardiac malformations | 270 | 17–41 |
| Mosimann et al. (2014) | UK | Retrospective | VSD | 2002–2011 | × Increased nuchal translucency × Extracardiac anormalies × Additional cardiac abnormalities |
34 | NS |
| Gedikbaşı et al. (2010) | Turkey | Retrospective | VSD | 2002–2007 | × Extracardiac findings × Co-existing cardiac findings |
18 | NS |
| Li et al. (2016) | China | Longitudinal | Isolated VSD | 2011–2013 | × Other cardiac structural abnormalities | 335 | 19–30 |
| Cho et al. (2017) | South Korea | Retrospective | Isolated VSD | 2010–2014 | × VSD as a part of another congenital heart defect (atrioventricular septal defect, tetralogy of Fallot, tricuspid atresia, etc.) | 228 | mid-trimester |
| Chau et al. (2018) | USA | Retrospective | VSD | 2012–2015 | × Other cardiac anomalies | 129 | NS |
| Paladini et al. (2000) | Italy | Observation | Isolated VSD | 1994–1998 | × VSD as a component of other CHD (tetralogy of Fallot, tricuspid atresia, etc.) or associated with other CHD (VSD + coarctation) | 68 | 17–39 |
| Axt-Fliedner et al. (2006) | Germany | Retrospective | Isolated VSD | 1996–2004 | × VSD as a part of other CHD (atrioventricular septal defect, tetralogy of Fallot, tricuspid atresia, etc.) | 146 | 13–39 |
| Selhorst et al. (2024) | USA | Retrospective | Isolated VSD | 2018–2023 | √ VSD with or without major structural abnormalities × Multiple heart abnormalities × Multiple gestation pregnancy |
125 | 27 ± 5 |
| Lu et al. (2024) | China | NS | CHD | 2017–2022 | × Extracardiac ultrasound anomalies × Additional structural anomalies × Soft markers × Amniotic fluid volume abnormality |
219 | 24.3 ± 2.9 |
| Zhao et al. (2024) | China | Retrospective | VSD | 2017–2022 | √ Low risk of NIPT × No test of NIPT × High risk of NIPT × Presence of other cardiac and extracardiac abnormalities |
45 | NS |
√ included criteria,× excluded critieria, AFI, amniotic fluid index; cFTS, combined first-trimester screening; CHD, congenital heart disease; CMA, chromosomal microarray analysis; CNV, copy number variation; DS, down syndrome; ES, exome sequencing, GA gestational age; NIPT, non-invasive prenatal testing; NS, not stated; QF-PCR, quantitative fluorescence PCR.
a
Nine studies proposed definitions for the term “isolated” or “isolated VSD”, 11 studies established inclusion or exclusion criteria, and risk indicators related were extracted from full text of the remaining 6 articles.