AI Article Synopsis
- The study aimed to investigate the genetic traits of a fetus exhibiting sex chromosome abnormalities detected through non-invasive prenatal testing (NIPT) at 25 weeks of gestation.
- The fetus was found to have a mix of chromosomal conditions, including a 45,X karyotype and deletions on the Y chromosome, confirmed through several advanced genetic tests.
- Ultimately, the diagnosis provided critical insights into the fetus's condition and led to an elected abortion, with tests verifying the genetic findings in both the fetus and placental tissue.
Article Abstract
Objective: To explore the genetic characteristics of a fetus with sex chromosome abnormality indicated by non-invasive prenatal testing (NIPT) at 25 gestational weeks.
Methods: A pregnant woman who was admitted to the Taizhou Hospital for abnormal NIPT result on January 6, 2023 was selected as the study subject. Relevant clinical data was collected. The fetus was subjected to chromosomal karyotyping analysis, copy number variation sequencing (CNV-seq), fluorescence in situ hybridization (FISH), and multiplex PCR assays.
Results: NIPT had suggested monosomy of X chromosome. The fetus was found to have a chromosomal karyotype of 45,X[59]/46,X,del(Y)(q11.2)[17] at 30 weeks of gestational age. CNV-seq suggested the presence a 7.98 Mb deletion at Yq11.222q12 and a mosaicism 16.92 Mb deletion. FISH suggested that the fetus harbored two SRY genes and a mosaicism sex chromosomal abnormality, and multiplex PCR revealed that its AZF b+c region was completely deleted. C-banded karyotyping showed darkly stained dense mitotic granules at both ends of the Y chromosome. The fetus was ultimately determined as a 45,X/46,X,idic(Y)(q11.2) mosaicism. Following elected abortion, testing of the fetal tissue confirmed the presence of 45,X/46,XY mosaicism, and CNV-seq result of the placental tissue was compatible with that of NIPT. CNV-seq analysis of the couple revealed no obvious abnormality.
Conclusion: With combined NIPT, karyotyping, CNV-seq, FISH and multiplex PCR assays, the fetus was diagnosed as a 45,X/46,X,idic(Y)(q11.2) mosaicism with deletion of the AZF b+c region. Above finding has enabled prenatal diagnosis for the fetus.
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| http://dx.doi.org/10.3760/cma.j.cn511374-20230807-00042 | DOI Listing |
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