Evidence map›Paper›PMID 42260801›Full record

ArticleMedicine2026

Prenatal phenotypes and pregnancy outcomes of fetuses with recurrent 16p13.11 microduplications.

Tangfei Xu, Fagui Yue, Yao Ge, Ruizhi Liu

Abstract read
In one paragraph

Article in Medicine, 2026. 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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0citing papers in PubMed
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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

4 authors.

Tangfei XuCenter for Reproductive Medicine, Center for Prenatal Diagnosis, First Hospital, Jilin University, Changchun, China.
Fagui YueCenter for Reproductive Medicine, Center for Prenatal Diagnosis, First Hospital, Jilin University, Changchun, China.
Yao GeCenter for Reproductive Medicine, Center for Prenatal Diagnosis, First Hospital, Jilin University, Changchun, China.
Ruizhi LiuCenter for Reproductive Medicine, Center for Prenatal Diagnosis, First Hospital, Jilin University, Changchun, China.ORCID 0000-0002-3386-7765

Funding

Science and Technology Department of Jilin Province, China. 20210502001ZP
6 · The paper itself

Abstract

16p13.11 microduplication is a frequently observed chromosomal abnormality in newborns. However, prenatal reports for this chromosome microscopic imbalance are rare in clinical practice. This study aimed to provide a systematic summary of prenatal phenotypes for this genomic disorder. Between April 2019 and May 2023, 10 pregnant women underwent amniocentesis due to fetal ultrasound abnormalities, advanced maternal age, or other prenatal diagnostic indications. After obtaining informed consent, chromosomal microarray analysis and G-banding were performed. Karyotype results were normal for all fetuses except in 2 cases (P2 and P5). Chromosomal microarray analysis detected 0.79 to 1.639 Mb duplications of 16p13.11 (chr16: 14806186-16444739, hg38) in all 10 cases, involving 4 morbid genes (NDE1, MYH11, ABCC1, and ABCC6) in common. Eight women (P1-P8) continued their pregnancies and delivered healthy infants at term, while the parents of cases 9 and 10 terminated their pregnancies. All neonates exhibited good health states without obvious abnormalities observed. The prenatal phenotypes of 16p13.11 duplications were primarily associated with abnormal soft markers, including increased nuchal translucency, ventriculomegaly, and enhanced intestinal echo. However, further evidence is needed to explore prenatal genotype-phenotype correlations. For prenatally diagnosed cases carrying 16p13.11 microduplications, long-term follow-up should be carried out to acquire their postnatal health conditions and growth details.

Indexed as

Chromosome DuplicationChromosomes, Human, Pair 16Pregnancy OutcomeAdultAmniocentesisFemaleHumansInfant, NewbornPhenotypePregnancyPrenatal DiagnosisUltrasonography, Prenatal16p13.11 microduplicationschromosome microarray analysisgenotype–phenotype correlationprenatal diagnosis

Identifiers

PMID42260801
PMCPMC13246041

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.