ArticleGenetics in medicine : official journal of the American College of Medical Genetics2017
Mosaic trisomy 16: what are the obstetric and long-term childhood outcomes?
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Chromosomal Numerical Aberrations and Rare Copy Number Variation in Patients with Inflammatory Bowel Disease.Journal of Crohn's & colitis · 2023Pooled it
- Uniparental Disomy Reveals Hidden Genetic Causes of Congenital Heart Disease.Research square · 2026Article
- Article
- Genome-Wide Prenatal cfDNA Screening and the Obstetric Incidentalome: Maternal Cancer, Placental Mosaicism, and Pregnancy Risk.International journal of women's health · 2026Review
- Clinical Insights Regarding the Targeted Chromosomal Region for Mosaicism and Aneuploidy in Embryos in IVF Treatment and Literature Review.Diagnostics (Basel, Switzerland) · 2025Article
- Making Sense of a Prenatal Detection of Trisomy 16 Mosaicism in the Placenta: A Qualitative Study of Pregnant Women's Decision Making.Prenatal diagnosis · 2025Article
- Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledge.European journal of human genetics : EJHG · 2022Review
- Mosaic Trisomy 16 Associated with Left Lung Agenesis, Abnormal Left Arm, and Right Pulmonary Artery Stenosis: Expanding the Phenotype and Review of the Literature.Journal of pediatric genetics · 2022Article
- Genome-Wide Cell-Free DNA Test for Fetal Chromosomal Abnormalities and Variants: Unrestricted Versus Restricted Reporting.Diagnostics (Basel, Switzerland) · 2022Article
- Detection of Embryonic Trisomy 21 in the First Trimester Using Maternal Plasma Cell-Free RNA.Diagnostics (Basel, Switzerland) · 2022Article
- Mouse models of aneuploidy to understand chromosome disorders.Mammalian genome : official journal of the International Mammalian Genome Society · 2022Review
- Identification of differentially methylated genes in first-trimester placentas with trisomy 16.Scientific reports · 2022Article
- Outcomes of pregnancies with trisomy 16 mosaicism detected by NIPT: a series of case reports.Molecular cytogenetics · 2021Article
- Chromosomal mosaicism: Origins and clinical implications in preimplantation and prenatal diagnosis.Prenatal diagnosis · 2021Article
- Genomic imbalances in the placenta are associated with poor fetal growth.Molecular medicine (Cambridge, Mass.) · 2021Article
- Review
- Do specific ultrasonography features identified at the time of early pregnancy loss predict fetal chromosomal abnormality? - A systematic review and meta-analysis.Genes & diseases · 2019Article
- Review
- Prenatally Diagnosed Rare Trisomy 16 Mosaicism in Human Amniotic Fluid Cells in the Second Trimester: A Case Report.Development & reproduction · 2018Article
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3 authors.
Funding
Abstract
purposeTo evaluate obstetric and neonatal outcomes as well as long-term neurodevelopmental outcomes and quality of life among prenatally detected cases of mosaic trisomy (MT16) and confined placental mosaicism (CPM) for trisomy 16.
methodsWe recruited participants for this cross-sectional study through an international registry of families with children diagnosed with MT16 or CPM. Parents were interviewed about expectations based on prenatal counseling as well as about actual perinatal outcomes, congenital anomalies, medical conditions, and school progress. Health-related quality of life (HRQOL) was assessed via the Pediatric Quality of Life Inventory 4.0 Generic Core Scales.
resultsForty-four families were enrolled, and 68.2% of the children were female. Common complications were gestational hypertension (gHTN) or preeclampsia (38.1%), preterm delivery (PTD; 71.4%), cesarean delivery (CD; 73.8%), birth weight <10th percentile (73.8%), neonatal intensive care unit (NICU) admission (88.1%), and congenital anomalies (59.5%). However, 81.8% of school-aged children were entirely in mainstream classes, and median physical, psychosocial, and total HRQOL scores were high: 90.6 (34.4-100), 86.7 (35-100), and 84.8 (34.8-100), respectively (100 = optimal quality of life).
conclusionSeveral obstetric and neonatal complications are common with pregnancies affected by MT16 or CPM. However, the majority of children demonstrate normal neurodevelopmental outcomes and high HRQOL.Genet Med advance online publication 06 April 2017.
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