# Prenatal Screening and Diagnostics

**Type:** Topics  
**Canonical URL:** https://scholariq.org/topics/prenatal-screening-and-diagnostics/

## Facts

| Field | Value |
| --- | --- |
| Description | This cluster of papers focuses on the various techniques and methods for diagnosing and screening prenatal aneuploidy, including the use of maternal plasma DNA sequencing, noninvasive prenatal testing, preimplantation genetic diagnosis, and fetal DNA analysis. It also covers topics such as chromosomal abnormalities, trisomy detection, and genomic sequencing in the context of prenatal diagnosis. |
| Domain | Health Sciences |
| Field | Medicine |
| OpenAlex ID | t10978 |
| Works | 240 |

## Topic papers all

Showing 15 of 240.

- [Strong Association of De Novo Copy Number Mutations with Autism](https://scholariq.org/papers/strong-association-of-de-novo-copy-number-mutations-with-autism/)
- [Large recurrent microdeletions associated with schizophrenia](https://scholariq.org/papers/large-recurrent-microdeletions-associated-with-schizophrenia/)
- [Quantitative Analysis of Fetal DNA in Maternal Plasma and Serum: Implications for Noninvasive Prenatal Diagnosis](https://scholariq.org/papers/quantitative-analysis-of-fetal-dna-in-maternal-plasma-and-serum-implications-for/)
- [Genome-wide analysis of DNA copy-number changes using cDNA microarrays](https://scholariq.org/papers/genome-wide-analysis-of-dna-copy-number-changes-using-cdna-microarrays/)
- [Effect of Corticosteroids for Fetal Maturation on Perinatal Outcomes](https://scholariq.org/papers/effect-of-corticosteroids-for-fetal-maturation-on-perinatal-outcomes/)
- [DNA methylation differences after exposure to prenatal famine are common and timing- and sex-specific](https://scholariq.org/papers/dna-methylation-differences-after-exposure-to-prenatal-famine-are-common-and/)
- [Rapid Clearance of Fetal DNA from Maternal Plasma](https://scholariq.org/papers/rapid-clearance-of-fetal-dna-from-maternal-plasma/)
- [Maternal Plasma DNA Sequencing Reveals the Genome-Wide Genetic and Mutational Profile of the Fetus](https://scholariq.org/papers/maternal-plasma-dna-sequencing-reveals-the-genome-wide-genetic-and-mutational/)
- [Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma](https://scholariq.org/papers/noninvasive-prenatal-diagnosis-of-fetal-chromosomal-aneuploidy-by-massively/)
- [The DNA methylation landscape of human early embryos](https://scholariq.org/papers/the-dna-methylation-landscape-of-human-early-embryos/)
- [Improved survival of children and adolescents with sickle cell disease](https://scholariq.org/papers/improved-survival-of-children-and-adolescents-with-sickle-cell-disease/)
- [Whole genome amplification from a single cell: implications for genetic analysis.](https://scholariq.org/papers/whole-genome-amplification-from-a-single-cell-implications-for-genetic-analysis/)
- [Plasma DNA tissue mapping by genome-wide methylation sequencing for noninvasive prenatal, cancer, and transplantation assessments](https://scholariq.org/papers/plasma-dna-tissue-mapping-by-genome-wide-methylation-sequencing-for-noninvasive/)
- [Distinct features of H3K4me3 and H3K27me3 chromatin domains in pre-implantation embryos](https://scholariq.org/papers/distinct-features-of-h3k4me3-and-h3k27me3-chromatin-domains-in-pre-implantation/)
- [Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study](https://scholariq.org/papers/non-invasive-prenatal-assessment-of-trisomy-21-by-multiplexed-maternal-plasma/)

## Topic primary papers

Showing 15 of 81.

- [Quantitative Analysis of Fetal DNA in Maternal Plasma and Serum: Implications for Noninvasive Prenatal Diagnosis](https://scholariq.org/papers/quantitative-analysis-of-fetal-dna-in-maternal-plasma-and-serum-implications-for/)
- [Rapid Clearance of Fetal DNA from Maternal Plasma](https://scholariq.org/papers/rapid-clearance-of-fetal-dna-from-maternal-plasma/)
- [Maternal Plasma DNA Sequencing Reveals the Genome-Wide Genetic and Mutational Profile of the Fetus](https://scholariq.org/papers/maternal-plasma-dna-sequencing-reveals-the-genome-wide-genetic-and-mutational/)
- [Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma](https://scholariq.org/papers/noninvasive-prenatal-diagnosis-of-fetal-chromosomal-aneuploidy-by-massively/)
- [Whole genome amplification from a single cell: implications for genetic analysis.](https://scholariq.org/papers/whole-genome-amplification-from-a-single-cell-implications-for-genetic-analysis/)
- [Plasma DNA tissue mapping by genome-wide methylation sequencing for noninvasive prenatal, cancer, and transplantation assessments](https://scholariq.org/papers/plasma-dna-tissue-mapping-by-genome-wide-methylation-sequencing-for-noninvasive/)
- [Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study](https://scholariq.org/papers/non-invasive-prenatal-assessment-of-trisomy-21-by-multiplexed-maternal-plasma/)
- [Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study](https://scholariq.org/papers/prenatal-exome-sequencing-analysis-in-fetal-structural-anomalies-detected-by/)
- [<scp>ISUOG</scp> Practice Guidelines: performance of first‐trimester fetal ultrasound scan](https://scholariq.org/papers/scp-isuog-scp-practice-guidelines-performance-of-first-trimester-fetal/)
- [Size Distributions of Maternal and Fetal DNA in Maternal Plasma](https://scholariq.org/papers/size-distributions-of-maternal-and-fetal-dna-in-maternal-plasma/)
- [Quantitative Abnormalities of Fetal DNA in Maternal Serum in Preeclampsia](https://scholariq.org/papers/quantitative-abnormalities-of-fetal-dna-in-maternal-serum-in-preeclampsia/)
- [Microfluidics Digital PCR Reveals a Higher than Expected Fraction of Fetal DNA in Maternal Plasma](https://scholariq.org/papers/microfluidics-digital-pcr-reveals-a-higher-than-expected-fraction-of-fetal-dna/)
- [Digital PCR for the molecular detection of fetal chromosomal aneuploidy](https://scholariq.org/papers/digital-pcr-for-the-molecular-detection-of-fetal-chromosomal-aneuploidy/)
- [Accuracy of non-invasive prenatal testing using cell-free DNA for detection of Down, Edwards and Patau syndromes: a systematic review and meta-analysis](https://scholariq.org/papers/accuracy-of-non-invasive-prenatal-testing-using-cell-free-dna-for-detection-of/)
- [Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasma](https://scholariq.org/papers/noninvasive-prenatal-diagnosis-of-monogenic-diseases-by-digital-size-selection/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.