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Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

Screening for fetal aneuploidy.

Britton D Rink¹, Mary E Norton²

¹Department of Maternal Fetal Medicine, Mount Carmel Health Systems, 6001 East Broad St, Office 3044, Columbus, OH 43213-1502.

Seminars in Perinatology

|January 4, 2016

Summary

This summary is machine-generated.

Prenatal screening for fetal genetic disorders offers advanced accuracy beyond traditional methods. Genetic testing in pregnancy requires careful counseling due to limitations and ethical considerations.

Keywords:

cell-free fetal DNA chromosomal aneuploidy genetic testing prenatal genetic counseling prenatal screening prenatal ultrasound

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Area of Science:

Obstetrics and Gynecology
Medical Genetics
Prenatal Diagnostics

Background:

Current prenatal screening encompasses genetic disorders, aneuploidy, and birth defects.
Various ultrasound and maternal serum tests are available for aneuploidy risk assessment.
Patients need counseling on screening limitations and implications of results.

Purpose of the Study:

To review advancements in prenatal screening technologies.
To discuss the role of cell-free DNA (cfDNA) in prenatal genetic testing.
To highlight the benefits, limitations, and ethical considerations of modern prenatal screening.

Main Methods:

Review of current prenatal screening recommendations and technologies.
Discussion of advancements in genetic testing, including cell-free DNA.
Emphasis on pre- and post-test counseling for expectant mothers.

Main Results:

New genetic technologies offer improved accuracy for common aneuploidies.
Cell-free DNA screening has significantly impacted prenatal care.
Unanswered questions remain regarding the financial, ethical, and practical application of cfDNA testing.

Conclusions:

Prenatal screening is essential for identifying fetal genetic disorders.
Cell-free DNA testing represents a significant advancement in accuracy.
Further discussion is needed on the responsible integration of new genetic technologies in prenatal care.