ArticleAmerican journal of human genetics2004
Trisomy recurrence: a reconsideration based on North American data.
Article in American journal of human genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 2 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
33 citing papers in PubMed, 2 syntheses or guidelines pooled it, 249 citations in OpenAlex.
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- Genetic evaluation and counseling of couples with recurrent miscarriage: recommendations of the National Society of Genetic Counselors.Journal of genetic counseling · 2005Guideline
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- Infertility following trisomic pregnancies: A nationwide cohort study.International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics · 2025Article
- Post-zygotic rescue of meiotic errors causes brain mosaicism and focal epilepsy.Nature genetics · 2023Article
- Enhancing Omphalocele Care: Navigating Complications and Innovative Treatment Approaches.Cureus · 2023Review
- Characteristics and mechanisms of mosaicism in prenatal diagnosis cases by application of SNP array.Molecular cytogenetics · 2023Article
- Detection of mosaic chromosomal alterations in children with severe developmental disorders recruited to the DDD study.Genetics in medicine open · 2023Article
- Invasive Prenatal Diagnostic Testing for Aneuploidies in Singleton Pregnancies: A Comparative Review of Major Guidelines.Medicina (Kaunas, Lithuania) · 2022Review
- Mosaic proximal trisomy 13q and regular trisomy 13 in a female patient with long survival: Involvement of an incomplete trisomic rescue and a chromothripsis event.Molecular genetics & genomic medicine · 2021Article
- Clinical management of pregnancies with positive screening results for rare autosomal aneuploidies at a single center.The Journal of international medical research · 2020Article
- Karyotype evaluation of repeated abortions in primary and secondary recurrent pregnancy loss.Journal of assisted reproduction and genetics · 2020Article
- Analysis of Chromosomal Copy Number in First-Trimester Pregnancy Loss Using Next-Generation Sequencing.Frontiers in genetics · 2020Article
- Dual diagnoses in 152 patients with Turner syndrome: Knowledge of the second condition may lead to modification of treatment and/or surveillance.American journal of medical genetics. Part A · 2018Article
- Application of chromosomal microarray analysis in products of miscarriage.Molecular cytogenetics · 2018Article
- Attitude toward Prenatal Testing and Termination of Pregnancy among Health Professionals and Medical Students in Saudi Arabia.Journal of pediatric genetics · 2017Article
- Why could a woman have three Trisomy 21 pregnancies? - a case report.Clinical case reports · 2017Article
- Preimplantation genetic diagnosis/screening by comprehensive molecular testing.Reproductive medicine and biology · 2016Review
- Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
Few reliable data exist concerning the recurrence risk for individual trisomies or the risk for recurrence of trisomy for a different chromosome. We collected records from two sources: (1) prenatal diagnoses performed at the Hopital Sainte-Justine in Montreal and (2) karyotype analyses performed at Genzyme. Using the standardized morbidity ratio (SMR), we compared the observed number of trisomies at prenatal diagnosis with the expected numbers, given maternal age-specific rates (by single year). SMRs were calculated both for recurrence of the same trisomy (homotrisomy) and of a different trisomy (heterotrisomy). After all cases with an index trisomy 21 were combined, the SMR for homotrisomy was 2.4 (90% CI 1.6-3.4; P=.0005). For women with both the index trisomy and subsequent prenatal diagnosis at age <30 years, the SMR was 8.0; it was 2.1 for women with both pregnancies at age >/=30 years. For the other index viable trisomies (13, 18, XXX, and XXY) combined, the SMR for homotrisomy was 2.5 (90% CI 0.7-8.0). For heterotrisomy, the SMR after an index trisomy 21 was 2.3 (90% CI 1.5-3.8, P=.0007); the SMR did not vary with maternal age at the first trisomy. When all cases with index viable trisomies were combined, the SMR for heterotrisomy was 1.6 (90% CI 1.1-2.4; P=.04). For prenatal diagnoses following a nonviable trisomy diagnosed in a spontaneous abortion (from Genzyme data only), the SMR for a viable trisomy was 1.8 (90% CI 1.1-3.0; P=.04). The significantly increased risk for heterotrisomy supports the hypothesis that some women have a risk for nondisjunction higher than do others of the same age.
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