In vitro fertilization outcomes in VACTERL association (vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies and limb anomalies): report of 2 cases

LePoidevin, Lindsey Marie; Dunn, Timothy N.; Arian, Sara E.; Kaskar, K.; Schutt, Amy K.

doi:10.1016/j.xfre.2022.06.006

F&S Reports

2022

DOI: 10.1016/j.xfre.2022.06.006

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In vitro fertilization outcomes in VACTERL association (vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies and limb anomalies): report of 2 cases

Lindsey Marie LePoidevin

Timothy N. Dunn

Sara E. Arian

et al.

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2024

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“…some cases, surgical management. Abnormalities of the internal genitalia in patients, particularly females, might go unnoticed until they result in symptoms including pelvic pain, infertility, endometriosis, preterm labor, preterm delivery, or fetal malpresentation (Ahmad et al, 2023;LePoidevin et al, 2022). Some of these late-onset complications may manifest acutely, as illustrated by a case report of hematocolpos and distal vaginal atresia (Kang et al, 2018), presenting as acute abdominal pain in a patient with VACTERL.…”

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confidence: 99%

Expansion of the core features of VACTERL association to include genital anomalies

Forero,

Henderson,

Galarreta

et al. 2024

American J of Med Genetics Pt A

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Genital anomalies have been reported with VACTERL association but not considered a core feature. Acute and chronic complications stemming from unrecognized genital anomalies have been reported in adolescents and young adults with VACTERL association. We sought to determine the frequency and severity of genital anomalies in VACTERL patients and identify which core features were more frequently associated with genital anomalies. A retrospective chart review from January 2010 to October 2021 identified 211 patients with two or more core VACTERL features, 34% of whom had a genital anomaly. The majority of genital anomalies (83% of those in males and 90% in females) were classified as functionally significant (requiring surgical intervention or causing functional impairment). The frequency of genital anomalies in the VACTERL cohort was higher if anorectal malformations or renal anomalies were present in both males and females and if vertebral anomalies were present in females. Due to their functional significance, genital anomalies should be assessed in all patients with two or more core features of VACTERL association, especially in those with anorectal or renal anomalies. Most genital anomalies in males will be detected on physical examination but additional investigation is often needed to detect genital anomalies in females. The timing and type of investigation are subjects for future study.

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mentioning

confidence: 99%

Expansion of the core features of VACTERL association to include genital anomalies

Forero,

Henderson,

Galarreta

et al. 2024

American J of Med Genetics Pt A

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In vitro fertilization outcomes in VACTERL association (vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies and limb anomalies): report of 2 cases

Cited by 1 publication

References 13 publications

Expansion of the core features of VACTERL association to include genital anomalies

Expansion of the core features of VACTERL association to include genital anomalies

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