Intrauterine phenotype, genetic analysis, and pregnancy follow-up of fetuses with the 16p12.2 microdeletion.

Meiying Cai, Na Lin, Hailong Huang, Wenqiang You, Nan Guo, Liangpu Xu

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Article in Frontiers in genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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6 authors.

Meiying Cai *Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Clinical Research Center for Maternal-Fetal Medicine, National Key Obstetric Clinical Specialty Construction Institution of China, Fujian Medical University, Fuzhou, China.

Na Lin *Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Clinical Research Center for Maternal-Fetal Medicine, National Key Obstetric Clinical Specialty Construction Institution of China, Fujian Medical University, Fuzhou, China.

Hailong HuangMedical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Clinical Research Center for Maternal-Fetal Medicine, National Key Obstetric Clinical Specialty Construction Institution of China, Fujian Medical University, Fuzhou, China.

Wenqiang YouFujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, China.

Nan GuoMedical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Clinical Research Center for Maternal-Fetal Medicine, National Key Obstetric Clinical Specialty Construction Institution of China, Fujian Medical University, Fuzhou, China.

Liangpu XuMedical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Clinical Research Center for Maternal-Fetal Medicine, National Key Obstetric Clinical Specialty Construction Institution of China, Fujian Medical University, Fuzhou, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Reports on the intrauterine phenotype of the 16p12.2 microdeletion are few. A retrospective analysis of the clinical data, genetic testing results, and neonatal prognoses of fetuses with the 16p12.2 microdeletion was conducted to provide a basis for their clinical management. The research participants were pregnant women who underwent prenatal diagnoses between November 2016 and June 2024. Among them, 12,000 cases were selected for karyotype analyses and single-nucleotide polymorphism (SNP) array testing. In the SNP array, 13 out of 12,000 fetuses (0.1%) had the 16p12.2 microdeletion, which included 6 cases of distal deletions and 7 of proximal deletions, involving fragment sizes ranging from 511 to 994 kb. The 16p12.2 distal deletion mainly involves the

Indexed as

16p12.2 microdeletionfetusfollow-upintrauterine phenotypeSNP array

Identifiers

PMID41070225

DOI10.3389/fgene.2025.1595399

PMCPMC12504072

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