Utility of expanded carrier screening in pregnancies with ultrasound abnormalities.
Prenat Diagn
; 42(1): 60-78, 2022 Jan.
Article
em En
| MEDLINE
| ID: mdl-34792213
ABSTRACT
OBJECTIVE:
Explore the utility of expanded carrier screening in evaluating heritable causes of congenital anomalies detected by prenatal ultrasound.METHOD:
A retrospective chart review was conducted to collect structural abnormality and genetic testing data on infants who were evaluated postnatally by a medical geneticist. These were used to determine if expanded carrier screening could have determined the etiology prior to delivery. Additionally, recessive and X-linked conditions on clinically available carrier screening panels were evaluated to determine the number of conditions associated with abnormal ultrasound findings.RESULTS:
Our retrospective chart review found 222 patients with genetic etiologies, including eight unique autosomal recessive conditions and six X-linked conditions in the 23% who underwent exome sequencing. Of these 14 unique conditions detected, three were included on a list of 271 conditions for which screening was available in 2019 and five were included on a 500 condition panel available in 2020. A literature review was performed on the list of 271 conditions and 88 were reported to be associated with one or more ultrasound abnormalities.CONCLUSION:
This study demonstrates limited but potential utility for expanded carrier screening to determine the underlying etiology of congenital anomalies.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Ultrassonografia Pré-Natal
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Feto
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Triagem de Portadores Genéticos
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article