The Impact of Prenatal Diagnosis on Clinical Outcomes of Isolated Vascular Rings From a Statewide Paediatric Cardiology Tertiary Service

Peacock, Giulia; Kothari, Darshan; D’Orsogna, Lloyd; Dickinson, Jan E.; Andrews, Davıd L.; Yim, Deane

doi:10.1016/j.hlc.2023.03.009

Cited by 3 publications

(2 citation statements)

References 19 publications

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“… 12 Since the introduction of better imaging modalities, prenatal detection has improved with 73.6% of vascular rings diagnosed in utero. 13 A recent retrospective case review by Peacock et al reported a high rate of genetic diseases associated with vascular ring, specifically with 22q11.2 mutation being the most common. ALGS was not among the genetic syndromes reported.…”

Section: Discussionmentioning

confidence: 99%

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A neonatal case of vascular ring with Alagille syndrome

Lee,

Silva Sepulveda,

Del Campo

et al. 2023

SAGE Open Medical Case Reports

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A female infant, born at 37 week 5 days to a mother via induced vaginal delivery for preeclampsia, was prenatally diagnosed with a right aortic arch with vascular ring. On the third day of life, the infant exhibited a bronze-gray coloration, and a direct bilirubin of 1.7 mg/dL was detected. The abdominal ultrasound did not visualize the gallbladder. Clinically, the infant displayed features consistent with Alagille syndrome, including unusual facial appearance, butterfly vertebrae, cardiovascular defects, and cholestasis. The geneticist noted that the mother of the patient also exhibited similar features. Both the infant and the mother were diagnosed with Alagille syndrome, both having the same heterozygous JAG1 gene (NM_000214.2) variant (c.1890_1893del, p.Ile630Metfs*112). We believe that the vascular ring observed in our patient is the first reported instance of a vascular ring associated with Alagille syndrome.

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Section: Discussionmentioning

confidence: 99%

“…Surgical intervention is warranted in symptomatic patients and patients typically recover without ongoing symptoms in 93.2% of cases. 13 …”

Section: Discussionmentioning

confidence: 99%

A neonatal case of vascular ring with Alagille syndrome

Lee,

Silva Sepulveda,

Del Campo

et al. 2023

SAGE Open Medical Case Reports

View full text Add to dashboard Cite

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Prenatal cardiac findings and 22q11.2 deletion syndrome: Fetal detection and evaluation

Goldmuntz,

Bassett,

Boot

et al. 2024

Prenatal Diagnosis

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Clinical features of 22q11.2 microdeletion syndrome (22q11.2DS) are highly variable between affected individuals and frequently include a subset of conotruncal and aortic arch anomalies. Many are diagnosed with 22q11.2DS when they present as a fetus, newborn or infant with characteristic cardiac findings and subsequently undergo genetic testing. The presence of an aortic arch anomaly with characteristic intracardiac anomalies increases the likelihood that the patient has 22q11.2 DS, but those with an aortic arch anomaly and normal intracardiac anatomy are also at risk. It is particularly important to identify the fetus at risk for 22q11.2DS in order to prepare the expectant parents and plan postnatal care for optimal outcomes. Fetal anatomy scans now readily identify aortic arch anomalies (aberrant right subclavian artery, right sided aortic arch or double aortic arch) in the three‐vessel tracheal view. Given the association of 22q11.2DS with aortic arch anomalies with and without intracardiac defects, this review highlights the importance of recognizing the fetus at risk for 22q11.2 deletion syndrome with an aortic arch anomaly and details current methods for genetic testing. To assist in the prenatal diagnosis of 22q11.2DS, this review summarizes the seminal features of 22q11.2DS, its prenatal presentation and current methods for genetic testing.

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