High-level mosaicism for 45,X in 45,X/46,XX at amniocentesis in a pregnancy associated with perinatal progressive decrease of the 45,X cell line, a favorable fetal outcome and the karyotype of 45,X/47,XXX/46,XX in the neonate's peripheral blood at age 11 months

Q: What does this research mean for the field?

High-level 45,X/46,XX mosaicism detected at amniocentesis can result in a favorable fetal outcome accompanied by a progressive perinatal decrease of the 45,X cell line. Novelty: ClaimNovelty.INCREMENTAL. Consensus alignment: ConsensusAlignment.NEUTRAL.

Chih-Ping Chen

doi:10.1016/j.tjog.2026.07.006

August 25, 2026Taiwanese Journal of Obstetrics and GynecologyOpen Access

High-level mosaicism for 45,X in 45,X/46,XX at amniocentesis in a pregnancy associated with perinatal progressive decrease of the 45,X cell line, a favorable fetal outcome and the karyotype of 45,X/47,XXX/46,XX in the neonate's peripheral blood at age 11 months

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Key Points

To describe the prenatal diagnosis and postnatal progression of high-level 45,X mosaicism associated with a favorable fetal and infant outcome.
Conducted amniocentesis during pregnancy for prenatal cytogenetic evaluation.
Tracked perinatal clinical outcomes and performed peripheral blood karyotyping in the infant at 11 months of age.
Detected a high level of 45,X mosaicism in a 45,X/46,XX lineage at amniocentesis that progressively diminished across the perinatal period.
Recorded normal clinical development alongside a postnatal peripheral blood karyotype of 45,X/47,XXX/46,XX at age 11 months.

Implication

Case report observes progressive perinatal loss of the 45,X cell line in a mosaic pregnancy, indicating that dynamic cytogenetic shifts can accompany favorable neonatal outcomes.

Abstract

X cell line, a favorable fetal outcome and the karyotype of 45,X/47,XXX/ 46,XX in the neonate's peripheral blood at age 11 months

Discussion

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Cite This Study

Chih-Ping Chen (2026) studied this question.

synapsesocial.com/papers/6a9145ead15324a1df3a92ba https://doi.org/10.1016/j.tjog.2026.07.006

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High-level mosaicism for 45,X in 45,X/46,XX at amniocentesis in a pregnancy associated with perinatal progressive decrease of the 45,X cell line, a favorable fetal outcome and the karyotype of 45,X/47,XXX/46,XX in the neonate's peripheral blood at age 11 months

Key Points

Implication

Abstract

Discussion

Cite This Study

High-level mosaicism for 45,X in 45,X/46,XX at amniocentesis in a pregnancy associated with perinatal progressive decrease of the 45,X cell line, a favorable fetal outcome and the karyotype of 45,X/47,XXX/46,XX in the neonate's peripheral blood at age 11 months

Key Points

Implication

Abstract

Discussion

Cite This Study

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