Associated Anomalies and Outcome in Patients with Prenatal Diagnosis of Aortic Arch Anomalies as Aberrant Right Subclavian Artery, Right Aortic Arch and Double Aortic Arch
Abstract
:1. Introduction
2. Materials and Methods
3. Results
3.1. Chromosomal Anomalies in AAAs
3.2. Associated Intracardiac Anomalies in AAAs
3.3. Associated Extracardiac Anomalies in AAA
3.4. Isolated AAAs
3.5. Prenatal Outcome in AAAs
3.6. Postnatal Outcome in AAAs
4. Discussion
4.1. AAA Diagnostics of AAA and Accuracy Rate
4.2. ARSA-Isolated versus Non-Isolated Forms
4.3. Associated Anomalies in RAA
4.4. Symptoms of Vascular Ring/Sling in AAA
5. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
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All | Twin Pregnancy | ART (IVF/ ICSI) | Genetic Anomalies | NT >95 Percentile | Intracardiac Anomalies | Extracardiac Anomalies | Isolated (No Other Malformation) | Genetic Anomalies within Isolated Cases | |
---|---|---|---|---|---|---|---|---|---|
ARSA | 46 | 5 (10.9%) | 3 (6.5%) | 17 (37.0%) | 9 (19.6%) | 13 (28.3%) | 13 (28.3%) | 26 (56.5%) | 3/26 (11.5%) |
RAA-mirror | 13 | 1 (7.7%) | 3 (23.1%) | 1 (7.7%) | 0 (0%) | 13 (100%) | 4 (30.7%) | 0 (0%) | 0 (0%) |
RAA-ALSA | 27 | 2 (7.4%) | 2 (7.4%) | 1 (3,7%) | 0 (0%) | 10 (37.0%) | 6 (22.2%) | 13 (48.1%) | 0 (0%) |
DAA | 4 | 0 (0%) | 1 (25%) | 0 (0%) | 0 (0%) | 0 (0%) | 1 (25%) | 3 (75%) | 0 (0%) |
all | 90 | 8 (8.9%) | 9 (10.0%) | 19 (21.1%) | 9 (10%) | 36 (40.0%) | 24 (26.7%) | 42 (46.7) | 3/42 (7.1%) |
ARSA 13 Patients | RAA-Mirror 4 Patients | RAA-ALSA 6 Patients | DAA 1 Patient |
---|---|---|---|
pes eqinovarus (T21) plexus cyst n = 2 hemivertebra megacisterna magna, hypoplastic cerebellar vermis, cleft palate (T18) omphalocele, esophageal atresia, hand deformity, pes equinovarus (T18) single umbilical artery, hydrops fetalis (T18) single umbilical artery double kidney, edema (turner) microcephaly (T21) hypospadia, preauricular appendage duodenal atresia (mosaic T21) appendage right hand, muscular gap proximal to umbilicus (microdeletion 22q11.2) | equinovarus, hydrocephalus, macrocephaly, cerebellar hypoplasia microtia, glaucoma, nevus flammeus (face), angioma (supratentorial) (GNAQ chromosome 9 mutation) hydronephrosis, megaureter, dysplastic ear left esophageal atresia, renal agenesis, Madelung’s deformity left hand, anal atresia with rectovaginal fistula (VACTERL) | syndactyly left hand (III/IV), feet deformity cleft lip radial polydactyly, preauricular fistula, preauricular appendage microcephaly n = 2 (one case with microdeletion 22q11.2) meningomyelocele + renal agenesis | hypospadia |
n | Invasive Testing | NIPT (Without Further Invasive Testing) | Abnormal Result | Outcome in Abnormal Results | Outcome in Patients with Normal Karyotype/Normal NIPT | Outcome Patients without Prenatal Testing/Invasive Testing | |
---|---|---|---|---|---|---|---|
ARSA | 26 | 6/26 (23.1%) 3 of them with high-risk NIPT for T21 and subsequent amniocentesis | 7 | 3/26 (11.5%) | 1 lost to FU prenatally, 2 TOP | 5 lost to FU prenatally 3 lost to FU postpartum 2 livebirths with FU | 5 lost to FU prenatally; 8 livebirths with FU |
RAA-mirror | 0 | - | - | - | - | - | - |
RAA-ALSA | 13 | 2/13 (15.4%) | 2 (Both without testing for microdeletion) | 0 | - | 4 livebirths with FU | 6 livebirths 1 IUD 29 + 4 wks in a monochorionic twin with sFGR 2 lost to FU prenatally |
DAA | 3 | 0/3 (0%) | 0 | 0 | - | - | 3 livebirths, no operation during FU |
Reference | Cohort | ARSA (Total) | ARSA (Total) with Chromosomal Anomalies | Isolated ARSA | Isolated ARSA with Chromosomal Anomalies |
---|---|---|---|---|---|
Chaoui et al., 2005 [16] | 14 fetuses with trisomy 21 (HR) | 5 | 5 | 1 | 1 |
Gul et al., 2011 [31] | 4125 fetuses (LR) | 17 | 1 | 9 | 1 |
Paladini et al., 2012 [32] | 106 fetuses with trisomy 21 (HR) | 27 | 27 | 8 | 8 |
Pico et al., 2016 [27] | 120 fetuses with ARSA (108 with outcome) (M) | 108 | 22 (9 with T 21) | 54 | 0 |
Ranzini et al., 2017 [28] | 79 fetuses with ARSA (M) | 79 | 11 (7 with T 21) | 43 | 0 |
Willruth et al., 2012 [30] | 1337 fetuses (M) | 14 | 3 (1 × T21) | 9 | 0 |
Zalel et al., 2008 [17] | 924 fetuses (M) | 16 | 3 (3 × T21) | 6 | 0 |
our results | 46 fetuses with ARSA (M) | 46 | 17 (7 × T21) | 26 | 3 |
Reference | Cohort | FU Time (Months) | Operation (Vascular Ring/Sling) |
---|---|---|---|
Achiron et al., 2002 [11] | 19 fetuses with vascular ring/sling | 60 (median) | 1/19 (5.3%) (DAA case) |
Guo et al., 2020 [19] | 40 fetuses with DAA, 27 live births with DAA | 38 ± 17 (mean) | 11/27 (41%) |
Tuo et al., 2009 [5] | 19 fetuses with vascular ring/sling | 23.4 (mean) | 4/19 (21.1%) (3 × DAA, 1 × RAA-ALSA) |
Berg et al., 2006 [6] | 71 fetuses, 28 with vascular ring/sling | minimum 12 for each case | 1/25 (3.6%) (DAA case) |
Our results | 41 livebirths with vascular ring | 10.5 (median) | 1/41 (2.4%) (RAA-ALSA case) |
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Axt-Fliedner, R.; Nazar, A.; Bedei, I.; Schenk, J.; Reitz, M.; Rupp, S.; Jux, C.; Wolter, A. Associated Anomalies and Outcome in Patients with Prenatal Diagnosis of Aortic Arch Anomalies as Aberrant Right Subclavian Artery, Right Aortic Arch and Double Aortic Arch. Diagnostics 2024, 14, 238. https://doi.org/10.3390/diagnostics14030238
Axt-Fliedner R, Nazar A, Bedei I, Schenk J, Reitz M, Rupp S, Jux C, Wolter A. Associated Anomalies and Outcome in Patients with Prenatal Diagnosis of Aortic Arch Anomalies as Aberrant Right Subclavian Artery, Right Aortic Arch and Double Aortic Arch. Diagnostics. 2024; 14(3):238. https://doi.org/10.3390/diagnostics14030238
Chicago/Turabian StyleAxt-Fliedner, Roland, Asia Nazar, Ivonne Bedei, Johanna Schenk, Maleen Reitz, Stefan Rupp, Christian Jux, and Aline Wolter. 2024. "Associated Anomalies and Outcome in Patients with Prenatal Diagnosis of Aortic Arch Anomalies as Aberrant Right Subclavian Artery, Right Aortic Arch and Double Aortic Arch" Diagnostics 14, no. 3: 238. https://doi.org/10.3390/diagnostics14030238