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2023 ACMG Annual Clinical Genetics Meeting Digital ...
Prenatal diagnosis of sideroblastic anemia with im ...
Prenatal diagnosis of sideroblastic anemia with immunodeficiency, fevers, and developmental delay in a fetus with severe growth restriction and cardiomegaly.
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This article describes a case of prenatal diagnosis of sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD) in a fetus with severe growth restriction and cardiomegaly. SIFD is caused by biallelic variants in TRNT1, which affects tRNA function. The phenotype of SIFD is variable but includes anemia, B-cell deficiency, fevers, delayed development, and hearing loss. While diagnosis is typically made in childhood, there have been reports of fetal hydrops due to anemia and cardiomyopathy. This case presents the first known prenatal diagnosis of SIFD using genome sequencing, expanding the phenotype to include growth restriction and cardiomegaly. The use of genome sequencing for prenatal diagnosis is a recent development in the field and can aid in earlier diagnosis of SIFD.<br /><br />The article discusses the testing methodology used, which involved fetal genomic DNA sequencing and selective in silico analyses. The identified variants were assessed using the Variantyx Genomic Intelligence® platform. The presence of iron deposition in the liver and spleen was observed in the fetal MRI, which is consistent with sideroblastic anemia. The article suggests that this may be the first prenatal MRI suggestive of fetal iron deposition.<br /><br />Given the risk for severe hydrops and the need for immediate neonatal care, early diagnosis of SIFD can guide antenatal and postnatal management. The patient in this case opted for comfort care, and the baby passed away at 11 hours of life. This case highlights the importance of prenatal diagnosis and genetic counseling for families affected by SIFD.
Asset Subtitle
Co-Author - Lisa Demers, MS; Presenting Author - Laura Bulmer, MS, CGC; Co-Author - Ryan Cuff, MD; Co-Author - Nicolette Sookar, MSGC; Co-Author - Richard Jones, MD; Co-Author - Barbara Head, MD;
Meta Tag
Congenital Anomaly
Genome sequencing
Mitochondria
Phenotype
Prenatal Diagnosis
Sequencing
Ultrasound
Variant Detection
Co-Author
Lisa Demers, MS
Co-Author
Ryan Cuff, MD
Co-Author
Nicolette Sookar, MSGC
Co-Author
Richard Jones, MD
Co-Author
Barbara Head, MD
Presenting Author
Laura Bulmer, MS, CGC
Keywords
prenatal diagnosis
sideroblastic anemia
immunodeficiency
fevers
developmental delay
SIFD
severe growth restriction
cardiomegaly
TRNT1
tRNA function
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