Prenatal diagnosis of glutaric acidemia type 2 with the use of exome sequencing - an up-to-date review and new case report.
Ginekol Pol
; 92(1): 51-56, 2021.
Article
en En
| MEDLINE
| ID: mdl-33448012
ABSTRACT
INTRODUCTION:
Inborn errors of metabolism (IEM) also called metabolic diseases constitute a large and heterogenous group of disorders characterized by a failure of essential cellular functions. Antenatal manifestation of IEM is absent or nonspecific, which makes prenatal diagnosis challenging. Glutaric acidemia type 2 (GA2) is a rare metabolic disease clinically manifested in three different ways neonatal-onset with congenital anomalies, neonatal-onset without congenital anomalies and late-onset. Neonatal forms are usually lethal. Congenital anomalies present on prenatal ultrasound as large, hyperechoic or cystic kidneys with reduced amniotic fluid volume. MATERIAL ANDMETHODS:
We present a systematic literature review describing prenatal diagnosis of GA2 and a new prenatal case.RESULTS:
Ten prenatally diagnosed cases of GA2 have been published to date, mainly based on biochemical methods. New case of GA2 was diagnosed using exome sequencing method.DISCUSSION:
All prenatal cases from literature review had positive history of GA2 running in the family. In our study trio exome sequencing was performed in case of fetal hyperechoic kidneys without a history of GA2. Consequently, we were able to identify two novel pathogenic variants of the ETFDH gene and to indicate their parental origin.SUMMARY:
Exome sequencing approach used in case of fetal hyperechoic kidneys allows to identify pathogenic variants without earlier knowledge of the precise genetic background of the disease. Hyperechoic, enlarged kidneys could be one of the clinical features of metabolic diseases. After exclusion of chromosomal abnormalities, urinary tract obstruction and intrauterine infections, glutaric acidemia type 2 and number of monogenic disorders should be consider.Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Diagnóstico Prenatal
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Deficiencia Múltiple de Acil Coenzima A Deshidrogenasa
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Errores Innatos del Metabolismo
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
/
Systematic_reviews
Límite:
Adult
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Female
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Humans
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Newborn
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Pregnancy
Idioma:
En
Revista:
Ginekol Pol
Año:
2021
Tipo del documento:
Article
País de afiliación:
Polonia