ArticleBMC pregnancy and childbirth2022
16p13.11 microdeletion/microduplication in fetuses: investigation of associated ultrasound phenotypes, genetic anomalies, and pregnancy outcome follow-up.
Article in BMC pregnancy and childbirth, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 24 citations in OpenAlex.
- Prenatal phenotypes and pregnancy outcomes of fetuses with recurrent 16p13.11 microduplications.Medicine · 2026Article
- Case Report: Early infantile drug-resistant epilepsy and gastrointestinal dysmotility associated with aFrontiers in pediatrics · 2026Article
- Updated penetrance estimates for recurrent copy number variants - an improved definition and formula.European journal of human genetics : EJHG · 2026Article
- 16p13.11 deletion/duplication: a large cohort study on prenatal diagnosis, postnatal outcomes, and phenotypic manifestations.BMC pregnancy and childbirth · 2025Article
- Prenatal diagnosis of fetuses with ultrasound soft markers.BMC pregnancy and childbirth · 2025Article
- 16p13.11 microduplication in 14 fetuses: prenatal diagnosis and postnatal follow-up.Molecular cytogenetics · 2025Article
- Prenatal Diagnosis, Ultrasound Findings, and Follow-Up Evaluation of 16p13.11 Deletion and Duplication Syndromes: Preliminary Assessment of Fetal Genotype-Phenotype.Journal of clinical laboratory analysis · 2025Article
- Chromosomal Microarray in Children Born Small for Gestational Age - Single Center Experience.Balkan journal of medical genetics : BJMG · 2024Article
- Identification of copy number variations among fetuses with isolated ultrasound soft markers in pregnant women not of advanced maternal age.Orphanet journal of rare diseases · 2024Article
- Clinical phenotype of the 16p.13.11 microdeletion: a case report with a mini review of the literature.Frontiers in genetics · 2024Article
- Prenatal diagnosis and postnatal follow-up of 15 fetuses with 16p13.11 microduplication syndrome.Frontiers in genetics · 2024Article
- Defining the scope of extended NIPS in Western China: evidence from a large cohort of fetuses with normal ultrasound scans.BMC pregnancy and childbirth · 2023Article
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
Abstract
objectives16p13.11 microdeletion/microduplication are rare genetic diseases with incomplete penetrance, most of which have been reported in adults and children, with ultrasound phenotyping in fetuses rarely described. Here, we have analyzed prenatal ultrasound phenotypic characteristics associated with 16p13.11 microdeletion/microduplication, in order to improve the understanding, diagnosis and monitoring of this disease in the fetus.
methodsA total of 9000 pregnant women who underwent invasive prenatal diagnosis for karyotyping and SNP-array were retrospectively analyzed in tertiary referral institutions from October 2016 to January 2022.
resultsSNP-array revealed that 20 fetuses had copy number variation (CNV) in the 16p13.11 region, out of which 5 had 16p13.11 microdeletion and the rest showed microduplication, along with different ultrasound phenotypes. Furthermore, 4/20 cases demonstrated structural abnormalities, while the remaining 16 cases were atypical in ultrasound. Taken together, 16p13.1 microdeletion was closely related to thickened nuchal translucency, while 16p13.11 microduplication was more closely associated with echogenic bowel. Only 5/15 fetuses were verified by pedigree, with one case of 16p13.11 microdeletion being de novo, and the other cases of 16p13.11 microduplication were inherited from one parent. In 4/20 cases, the pregnancy was terminated. Except for one case with short stature and another one who underwent lung cystadenoma surgery, no abnormalities were reported in the other cases during follow-up.
conclusionFetuses with 16p13.11 microdeletion/microduplication had no characteristic phenotype of intrauterine ultrasound and was in good health after birth, thus providing a reference for the perinatal management of such cases.
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