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May 31, 2026BMC PediatricsOpen Access

Prenatal diagnosis and pregnancy outcome of fetuses with 15q11.2 BP1-BP2 microdeletion syndrome: a single-center retrospective study of 34 cases

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Authors

YCYiming ChenHangzhou Women’s HospitalYZYanzhen ZhangHangzhou Women’s Hospital

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Implication

Single-center analysis investigates outcomes in fetuses with 15q11.2 microdeletion, suggesting enhanced prenatal counseling needs.

Key Points

  • Investigate the clinical phenotype and pregnancy outcomes of fetuses with 15q11.2 microdeletion syndrome.
  • Single-center retrospective analysis of 34 cases from September 2017 to April 2025.
  • Data collection included karyotype analysis, SNP-array for chromosomal copy number variations, and parental traceability testing.
  • ACMG classification was applied to assess genetic variants.
  • The detection rate of 15q11.2 BBS fetuses was 0.35% (34/9689).
  • Among 34 cases, 9 were classified as pathogenic and 25 as variants of uncertain significance.
  • 88.89% of follow-up cases showed inheritance from parents, indicating familial transmission.

Cite This Study

Chen et al. (2026) studied this question.

synapsesocial.com/papers/6a1bd0845783ba022b6fc577https://doi.org/10.1186/s12887-026-07073-1
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Prenatal diagnosis and estimated penetrance of 15q11.2 BP1–BP2 microdeletion syndrome in a Chinese cohort: a retrospective study and literature review2026
  2. 2Prenatal diagnosis of fetuses with 15q11.2 BP1-BP2 microdeletion in the Chinese population: a seven-year single-center retrospective study2024 · 1 citations
  3. 3Early-Onset 15q11.2 Microdeletion Syndrome in a Six-Year-Old Child: A Case Report of Refractory Epilepsy, Autism, and Multisystem Manifestations2025
  4. 4Second Prenatal Diagnosis of Bosch–Boonstra–Schaaf Optic Atrophy Syndrome in a Fetus With a 5q14.3q15 Deletion: A Case Report and Review of the Literature2026
  5. 5Prenatal Genetic and Sonographic Features of KBG Syndrome: A Cohort Study of 19 Fetal Cases2026