Spectrum of fetal limb anomalies.
Robert syndrome
VACTERL
amniotic band defects
autopsy
limb anomaly
microarray
radial ray defect
Journal
Journal of clinical ultrasound : JCU
ISSN: 1097-0096
Titre abrégé: J Clin Ultrasound
Pays: United States
ID NLM: 0401663
Informations de publication
Date de publication:
Jan 2023
Jan 2023
Historique:
revised:
18
06
2022
received:
09
04
2022
accepted:
30
06
2022
entrez:
14
1
2023
pubmed:
15
1
2023
medline:
18
1
2023
Statut:
ppublish
Résumé
Antenatal detection of limb anomalies is not uncommon, and pregnancies are usually terminated in view of the expected physical handicap. The aim of this retrospective observational study is to delineate the spectrum of fetal limb anomalies and provide evidence in support of complete postnatal evaluation in establishing recurrence risk. We present 54 cases of limb malformations detected antenatally and discuss the spectrum of abnormalities, the utility of fetal autopsy, and genetic testing to establish recurrence risk in subsequent pregnancies. 16/54 cases were isolated radial ray anomalies. There were five cases of amniotic band syndrome, five limb body wall complex cases, three VACTERL (vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities) associations, one case of sirenomelia, two cases of limb pelvis hypoplasia, and one case of OEIS (Omphalocele Exstrophy Imperforate anus and spinal defects). Four fetuses with non-isolated radial ray anomaly had trisomy 18. One case with bilateral radial ray defect had a mutation in the FANC-E gene confirming fanconi anemia. Twelve cases were unclassified. Autopsy is the most important investigation in fetuses with limb anomalies. We suggest chromosomal microarray (CMA) as a first-tier test after autopsy. However, in cases of bilaterally symmetrical limb anomalies, in case of previous similarly affected child, or history of consanguinity, whole exome sequencing (WES) can be offered as the primary investigation, followed by CMA if WES is normal.
Types de publication
Observational Study
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
96-106Informations de copyright
© 2022 Wiley Periodicals LLC.
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