Prenatal Diagnosis of Shwachman-Diamond Syndrome: Fetal Compound Heterozygous Variants in the SBDS Gene Associated With Mildly Straight Ribs.

IF 2.7 2区医学 Q2 GENETICS & HEREDITY

Prenatal Diagnosis Pub Date : 2025-02-26 DOI:10.1002/pd.6762

Linyan Zhu, Xuhong Wang, Yubo Shi, Xiaxi Huang, Huiqing Ding

引用次数: 0

Abstract

Shwachman-Diamond Syndrome (SDS) is a rare genetic disorder with pancreatic insufficiency, bone marrow failure, and skeletal abnormalities. Prenatal diagnosis is rare, with only one previous case. We report a novel antenatal SDS diagnosis at 22 weeks gestation. Ultrasound showed mildly straightened fetal ribs without significant shortening. Whole exome sequencing identified pathogenic variants in the SBDS gene, confirming SDS. This highlights the importance of subtle rib anomalies in prenatal ultrasound for SDS detection. It expands the prenatal phenotypic spectrum and emphasizes the need for further research. Genetic diagnosis is crucial for counseling, pregnancy management, and recurrence risk assessment.

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来源期刊

Prenatal Diagnosis 医学-妇产科学

CiteScore

5.80

自引率

13.30%

发文量

204

审稿时长

2 months

期刊介绍： Prenatal Diagnosis welcomes submissions in all aspects of prenatal diagnosis with a particular focus on areas in which molecular biology and genetics interface with prenatal care and therapy, encompassing: all aspects of fetal imaging, including sonography and magnetic resonance imaging; prenatal cytogenetics, including molecular studies and array CGH; prenatal screening studies; fetal cells and cell-free nucleic acids in maternal blood and other fluids; preimplantation genetic diagnosis (PGD); prenatal diagnosis of single gene disorders, including metabolic disorders; fetal therapy; fetal and placental development and pathology; development and evaluation of laboratory services for prenatal diagnosis; psychosocial, legal, ethical and economic aspects of prenatal diagnosis; prenatal genetic counseling