ReviewBirth defects research2020
Cytogenetic and molecular diagnostic testing associated with prenatal and postnatal birth defects.
Review in Birth defects research, 2020. 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.
What it found
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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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it.
- A systematic review and meta-analysis of the diagnostic accuracy after preimplantation genetic testing for aneuploidy.PloS one · 2025Pooled it
- Approach to Disorders of Sex Development in the Genomic Era.Indian journal of pediatrics · 2026Review
- A Tiered Genetic Diagnostic Approach in Newborns With Major Congenital Anomalies: Experience From a Tertiary NICU.Birth defects research · 2026Article
- How Are SNP-Array, Karyotyping, and FISH Applied in Prenatal Practice? A Focus on Diagnosis of Mosaicism Involving the Sex Chromosomes.Prenatal diagnosis · 2026Article
- Prenatal diagnosis of lowe syndrome: identification of a novel pathogenic variation in the OCRL1gene.Molecular biology reports · 2026Article
- Comparative Genomic Hybridization (CGH) in Genotoxicology: From the Basics to Modern Approaches.Methods in molecular biology (Clifton, N.J.) · 2026Review
- Integrating the Continuum of Genetic Testing From Fetus to Neonate: A Review of Prenatal Genetic Testing and the Overlap With Newborn Testing.Prenatal diagnosis · 2025Review
- Genomic Evaluation of AML-Main Techniques and Novel Approaches.Journal of clinical medicine · 2025Review
- Mosaic tetrasomy 9p detected by CNV-seq but missed by traditional karyotyping in a prenatal case without dysmorphic features.Molecular cytogenetics · 2025Article
- Review
- An infant with trisomy 9 and partial trisomy 12 derived from maternal balanced translocation: A case report and literature review.The Journal of international medical research · 2024Review
- Navigating fertility dilemmas across the lifespan in girls with Turner syndrome-a scoping review.Human reproduction update · 2024Article
- An Unclassified Deletion Involving the Proximal Short Arm of Chromosome 10: A New Syndrome?Genes · 2024Article
- Evaluation of chromosomal abnormalities in the postnatal cohort: A single-center study on 14,242 patients.Journal of clinical laboratory analysis · 2024Article
- Prenatal phenotype of Wolf-Hirschhorn syndrome: A case series and literature review.Molecular genetics & genomic medicine · 2023Review
- Chromosomal Microarray Analysis in Fetuses Detected with Isolated Cardiovascular Malformation: A Multicenter Study, Systematic Review of the Literature and Meta-Analysis.Diagnostics (Basel, Switzerland) · 2022Review
- Reconstructing and counting genomic fragments through tagmentation-based haploid phasing.Scientific reports · 2021Article
- Genome sequencing in families with congenital limb malformations.Human genetics · 2021Article
- Cytogenetic and molecular diagnostic testing associated with prenatal and postnatal birth defects.Birth defects research · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genetic testing is beneficial for patients and providers when in search of answers to medical problems related to the prenatal or early postnatal period. It can help to identify the cause or confirm a diagnosis associated with developmental delay, intellectual disability, dysmorphic features, heart defects, multiple malformations, short stature, stillbirth, neonatal death, or fertility problems. Genetic testing can be used to rule out single-gene or chromosome abnormalities. Different diagnostic cytogenetic and molecular genetic techniques are applied in clinical genetics laboratories, from conventional ones to the state of the art chromosomal microarrays and next-generation sequencing. Each of the genetic techniques or methods has its strengths and limitations, however different methods complement each-other in trying to identify the genetic variation(s) responsible for a medical condition, especially the ones related to birth defects.
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What OpenQuestion holds
Registered trials
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.