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Background: This study conducted genetic analysis on fetuses indicated to be at high risk by non-invasive prenatal testing (NIPT) to explore the etiology.
Methods: Karyotype analysis and single nucleotide polymorphism array (SNP-array) were performed to detect copy number variations in fetal amniotic fluid and parental peripheral blood.
Results: Fetal karyotype showed 46, X?, del (4) (q28q31.2). SNP-array revealed a novel 22.3 Mb deletion in the 4q28.1q31.21 segment. No abnormalities were found in the karyotype and SNP-array of the fetal parents. After induction of labor, the fetus was diagnosed with fetal growth restriction (FGR); being small for its gestational age by three weeks.
Conclusions: Using G-banding karyotype analysis and SNP-array, a prenatal diagnosis of a fetus with rare 4q28.1q31.21 microdeletion was made. The 4q28.1q31.21 microdeletion was identified as the cause of fetal FGR, leading to accurate genetic counseling for pregnant women.
DOI: 10.7754/Clin.Lab.2024.240934
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