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Catalog
2023 ACMG Annual Clinical Genetics Meeting Digital ...
Fetal
SPTA1
-related hemolytic anemia pres ...
Fetal
SPTA1
-related hemolytic anemia presenting in the mid-trimester with ascites
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Pdf Summary
This document discusses a case of fetal SPTA1-related hemolytic anemia presenting in the mid-trimester with ascites. The fetus initially presented with isolated ascites and Doppler evidence of anemia at 20 weeks' gestation. Exome sequencing revealed a novel homozygous pathogenic frameshift variant in the SPTA1 gene resulting in deficiency of a-spectrin. The phenotype of blood smear was consistent with autosomal recessive hereditary pyropoikilocytosis. The report highlights the increasing recognition of underlying genetic etiologies in nonimmune hydrops fetalis when exome sequencing is used for genetic diagnosis. Potential future treatments may include stem cell transplantation in utero. The case provides information on the patient's history, diagnostic tests, and outcomes. The purpose of the report was to expand the differential diagnosis for fetal ascites, explore the potential for detecting hereditary hemolytic anemia with mid-trimester ultrasound, and discuss the use of exome sequencing for diagnosis. The document also includes a table showing the doppler MCA-PSV measurement.
Asset Subtitle
Co-Author - Laila Rhee, MS; Presenting Author - Krishna R. Singh, MD, FACMG, FACOG; Co-Author - Herman L. Hedriana, MD; Co-Author - Nina M. Boe, MD;
Meta Tag
Etiology
Exome sequencing
Fetal Pathology
Fetal Therapy
Genotype-Phenotype Correlations
Molecular Pathophysiology
Prenatal Diagnosis
Ultrasound
Co-Author
Laila Rhee, MS
Co-Author
Herman L. Hedriana, MD
Co-Author
Nina M. Boe, MD
Presenting Author
Krishna R. Singh, MD, FACMG, FACOG
Keywords
fetal SPTA1-related hemolytic anemia
ascites
exome sequencing
a-spectrin deficiency
hereditary pyropoikilocytosis
nonimmune hydrops fetalis
stem cell transplantation
diagnostic tests
differential diagnosis
mid-trimester ultrasound
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