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Results for “prenatal testing”

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PubMed2026

Comparison of Medium-Coverage Whole-Genome Sequencing and Chromosomal Microarray in Prenatal Testing of Absence of Heterozygosity.

OBJECTIVE: Absence of heterozygosity (AOH) is a clinically significant genomic feature often associated with uniparental disomy and parental consanguinity in the prenatal settings. Chromosomal microarray analysis (CMA) is commonly used for AOH detection, while sequencing-based approaches may provide complementary genomic information within a single assay. This study evaluated the performance of medium-coverage whole-genome sequencing (CNV-plus) for the detection of prenatal AOH. METHODS: We analyzed 45 prenatal samples (35-CMA-positive, 10-CMA-negative). Concordance between CNV-plus and CMA was assessed at regional, genome-wide, and sample levels, with particular emphasis on the effect of AOH segment size. RESULTS: CNV-plus detected 56 AOH regions compared with 65 by CMA, yielding 68 matched segments. Segment-level sensitivity was 86.8%, showing clear size dependence: 53.3% for 5-10 Mb regions and 96.2% for regions > 10 Mb. Genome-wide overlap was high (global Jaccard index = 0.871), although boundary resolution differed between methods. At the sample level, CNV-plus achieved 97.1% sensitivity and 100% specificity, with no significant difference from CMA. CONCLUSIONS: CNV-plus demonstrates good concordance with CMA for detecting larger AOH regions in prenatal samples and may serve as a complementary approach when considering its size-dependent performance.

Humans↗
PubMed2006

Privacy and ethics in pediatric environmental health research-part I: genetic and prenatal testing.

The pressing need for empirically informed public policies aimed at understanding and promoting children's health has challenged environmental scientists to modify traditional research paradigms and reevaluate their roles and obligations toward research participants. Methodologic approaches to children's environmental health research raise ethical challenges for which federal regulations may provide insufficient guidance. In this article I begin with a general discussion of privacy concerns and informed consent within pediatric environmental health research contexts. I then turn to specific ethical challenges associated with research on genetic determinants of environmental risk, prenatal studies and maternal privacy, and data causing inflicted insight or affecting the informational rights of third parties.

Child↗
PubMed1988

The case for routinely offering prenatal testing for human immunodeficiency virus.

Infections with human immunodeficiency virus are becoming increasingly common among women of reproductive age. The consequences of these infections on maternal and child health are substantial. Evidence has been published that suggests that testing only those women recognized as being at risk through physician-elicited, patient-volunteered testing programs will fail to identify substantial numbers of infected patients. This article develops the arguments that informing infected women of their serologic status is of critical importance and that in clinical practice identification of women with sexually transmitted diseases such as human immunodeficiency virus can only be accomplished with routine testing (with consent, confidentiality, and counseling).

Acquired Immunodeficiency Syndrome↗
PubMed2005

Fetal therapy and cytogenetic testing: prenatal detection of chromosome aberration during thoracocentesis for congenital chylothorax by karyotyping from pleural effusion fluid and review of the literature.

This report serves to emphasize the necessity of rapid cytogenetic testing during fetal therapy for congenital hydrothorax and to review the literature. A 31-year-old primigravid woman was noted to have bilateral fetal hydrothorax, polyhydramnios, and preterm labor at 32 weeks' gestation. Echo-guided thoracocentesis was performed to draw 50 ml of golden/yellow pleural effusion fluid and 500 ml of amniotic fluid. Cytogenetic analysis of the lymphocytes obtained from the pleural effusion fluid revealed a karyotype of 47, XY, + 21. The pleural effusion fluid was predominantly lymphocytic and positive for the Rivalta test. A sonographic examination at 33 weeks' gestation revealed recurrent pleural effusion, but the woman refused repeat thoracocentesis and tocolytic management. A 2,568-g male baby with characteristic phenotypic findings of Down syndrome was delivered vaginally and expired after birth. The present case reinforces the notions that fetuses with congenital chylothorax are at risk for chromosomal abnormalities, and drainage of pleural effusion must include a rapid diagnosis of fetal karyotype. The cytogenetic information acquired is useful for genetic counseling and perinatal obstetric management.

Adult↗
PubMed2002

Eugenics or empowered choice? Community issues arising from prenatal testing.

The prevention of inherited disabilities is viewed in two contrasting ways--either as enhancing reproductive choice and improving population health, or as discriminating against disabled community members. We argue that modern clinical genetics, including preimplantation genetic diagnosis (PGD), reflects a persistent and defensible desire by the community to prevent disability, rather than as increasing discrimination or threatening to produce a 'new eugenic' society Screening should be presented as a distinct issue for decision-making about the prevention or acceptance of disability, rather than as a routinely accepted component of antenatal care. The community must improve its understanding of the experiences of those who manage disability, and continue to debate the issues of discrimination, selective genetic prevention and enhancement, reproductive freedom, and eugenics.

Australia↗