Prenatal genetic testing 2: diagnostic tests
Purpose of review
Prenatal genetic testing can be divided into two categories: screening and diagnosis. Prenatal genetic screening tests are used to assess carrier status or as a fetal risk assessment for a particular genetic disorder [1]. Prenatal genetic diagnostic testing is used to diagnose particular genetic conditions with as much certainty as possible [1,2]. This review will focus on the diagnostic side of prenatal genetic testing.
Recent findings
Next generation sequencing (NGS) has revolutionized prenatal genetic diagnostic testing. NGS methods are becoming more advanced and accurate as more genetic inf...
Source: Current Opinion in Pediatrics - November 7, 2022 Category: Pediatrics Tags: GENETICS: Edited by Nathaniel H. Robin Source Type: research
Haplotype-Assisted Noninvasive Prenatal Diagnosis of Genetic Diseases by Massively Parallel Sequencing of Maternal Plasma Cell-Free DNA
Methods Mol Biol. 2023;2590:287-294. doi: 10.1007/978-1-0716-2819-5_17.ABSTRACTEarly prenatal diagnosis of genetic diseases allows for timely intervention or prevention of the diseases in newborns. Conventional prenatal diagnosis of most genetic diseases relies on testing fetal DNA obtained by invasive procedures such as amniocentesis or chorionic villus sampling, which are associated with small risks of fetal loss. Maternal circulating blood contains cell-free DNA (cfDNA) from the fetal genome and can thus be used to noninvasively detect fetal genetic diseases such as chromosomal abnormalities, copy number variants, and s...
Source: Mol Biol Cell - November 6, 2022 Category: Molecular Biology Authors: Jia Ju Fengxia Su Chao Chen Jun Sun Ya Gao Source Type: research
Haplotype-Assisted Noninvasive Prenatal Diagnosis of Genetic Diseases by Massively Parallel Sequencing of Maternal Plasma Cell-Free DNA
Methods Mol Biol. 2023;2590:287-294. doi: 10.1007/978-1-0716-2819-5_17.ABSTRACTEarly prenatal diagnosis of genetic diseases allows for timely intervention or prevention of the diseases in newborns. Conventional prenatal diagnosis of most genetic diseases relies on testing fetal DNA obtained by invasive procedures such as amniocentesis or chorionic villus sampling, which are associated with small risks of fetal loss. Maternal circulating blood contains cell-free DNA (cfDNA) from the fetal genome and can thus be used to noninvasively detect fetal genetic diseases such as chromosomal abnormalities, copy number variants, and s...
Source: Mol Biol Cell - November 6, 2022 Category: Molecular Biology Authors: Jia Ju Fengxia Su Chao Chen Jun Sun Ya Gao Source Type: research
Screening and diagnosis of chromosomal abnormalities in twin pregnancy
Best Pract Res Clin Obstet Gynaecol. 2022 Oct 18:S1521-6934(22)00131-6. doi: 10.1016/j.bpobgyn.2022.10.001. Online ahead of print.ABSTRACTTwin pregnancies are at an increased risk of adverse pregnancy and perinatal outcome as compared to singleton gestations, mainly as the consequence of the higher rate of preterm birth, chromosomal as well as structural anomalies, placental abnormalities, and complications unique to monochorionic placentation. Screening for chromosomal anomalies poses diagnostic and management challenges when applied to twin pregnancies. The recent implementation of cell-free fetal DNA (cffDNA) in clinica...
Source: Cell Research - November 5, 2022 Category: Cytology Authors: Francesco D'Antonio Asma Khalil Source Type: research
Non-invasive prenatal testing for autosomal recessive disorders: A new promising approach
Conclusion: Herein, we detected AR disease mutations in the first trimester of pregnancy while surmounting limitations associated with maternal genetic material interference. Importantly, such detection strategies would allow the screening of pregnant women for common AR diseases, especially in highly consanguineous marriage populations. This technique would open avenues for the early detection and prevention of recessive diseases among the population. (Source: Frontiers in Genetics)
Source: Frontiers in Genetics - November 3, 2022 Category: Genetics & Stem Cells Source Type: research
Examination of a Stillbirth Workup: A Rural Statewide Experience
CONCLUSIONS: Fetal stillbirth assessment is suboptimal in our rural state, with 15% of stillbirths having no assessment and only 2% having all four assessments. There is no association between stillbirth assessment and gestational age (<28 weeks vs >28 weeks), but there is a correlation between delivery volume and stillbirth assessment.PMID:36318947 | PMC:PMC9634678 | DOI:10.14423/SMJ.0000000000001471 (Source: Southern Medical Journal)
Source: Southern Medical Journal - November 1, 2022 Category: General Medicine Authors: Dayna D Whitcombe Everett F Magann Emily C Fahr Abigail Ramseyer Songthip Ounpraseuth Wendy N Nembhard Source Type: research
Examination of a Stillbirth Workup: A Rural Statewide Experience
CONCLUSIONS: Fetal stillbirth assessment is suboptimal in our rural state, with 15% of stillbirths having no assessment and only 2% having all four assessments. There is no association between stillbirth assessment and gestational age (<28 weeks vs >28 weeks), but there is a correlation between delivery volume and stillbirth assessment.PMID:36318947 | DOI:10.14423/SMJ.0000000000001471 (Source: Southern Medical Journal)
Source: Southern Medical Journal - November 1, 2022 Category: General Medicine Authors: Dayna D Whitcombe Everett F Magann Emily C Fahr Abigail Ramseyer Songthip Ounpraseuth Wendy N Nembhard Source Type: research
Examination of a Stillbirth Workup: A Rural Statewide Experience
CONCLUSIONS: Fetal stillbirth assessment is suboptimal in our rural state, with 15% of stillbirths having no assessment and only 2% having all four assessments. There is no association between stillbirth assessment and gestational age (<28 weeks vs >28 weeks), but there is a correlation between delivery volume and stillbirth assessment.PMID:36318947 | PMC:PMC9634678 | DOI:10.14423/SMJ.0000000000001471 (Source: Southern Medical Journal)
Source: Southern Medical Journal - November 1, 2022 Category: General Medicine Authors: Dayna D Whitcombe Everett F Magann Emily C Fahr Abigail Ramseyer Songthip Ounpraseuth Wendy N Nembhard Source Type: research
Examination of a Stillbirth Workup: A Rural Statewide Experience
CONCLUSIONS: Fetal stillbirth assessment is suboptimal in our rural state, with 15% of stillbirths having no assessment and only 2% having all four assessments. There is no association between stillbirth assessment and gestational age (<28 weeks vs >28 weeks), but there is a correlation between delivery volume and stillbirth assessment.PMID:36318947 | PMC:PMC9634678 | DOI:10.14423/SMJ.0000000000001471 (Source: Southern Medical Journal)
Source: Southern Medical Journal - November 1, 2022 Category: General Medicine Authors: Dayna D Whitcombe Everett F Magann Emily C Fahr Abigail Ramseyer Songthip Ounpraseuth Wendy N Nembhard Source Type: research
