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Updated: Jan 28, 2026

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
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Prenatal Genetic Testing Options.

Angie C Jelin1, Katelynn G Sagaser1, Louise Wilkins-Haug2

  • 1Division of Maternal Fetal Medicine, Department of Gynecology and Obstetrics, Johns Hopkins Hospital, 600 N. Wolfe Street, Phipps 222, Baltimore, MD 21287, USA.

Pediatric Clinics of North America
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PubMed
Summary

Prenatal screening and diagnostic testing offer vital insights for expecting parents. Advances in technology are rapidly expanding options for aneuploidy screening and genetic diagnosis.

Keywords:
Cell-free DNA screeningNoninvasive prenatal testingPrenatal diagnosisPrenatal genetic testing

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Area of Science:

  • Obstetrics and Gynecology
  • Medical Genetics
  • Fetal Medicine

Background:

  • Prenatal screening and diagnosis are crucial components of modern obstetric care.
  • Testing choices are influenced by patient demographics, family history, and personal preferences.
  • The field is dynamic, with continuous technological advancements impacting available options.

Purpose of the Study:

  • To provide an overview of current prenatal screening and diagnostic testing options.
  • To highlight the evolving landscape of prenatal genetic testing technologies.
  • To discuss the implications of emerging technologies for prenatal care.

Main Methods:

  • Review of current screening modalities including ultrasound, maternal serum analytes, and cell-free DNA testing.
  • Discussion of diagnostic tests such as chromosomal microarray and whole exome sequencing.
  • Exploration of emerging technologies and their potential clinical applications.

Main Results:

  • Aneuploidy screening utilizes ultrasound, maternal analytes, and cell-free DNA.
  • Prenatal chromosomal microarray is recommended for ultrasound-detected anomalies.
  • Prenatal whole exome sequencing is available but faces challenges in counseling, interpretation, and turnaround time.

Conclusions:

  • All patients should have access to prenatal screening and diagnostic services.
  • Technological progress is expanding and refining prenatal testing capabilities.
  • Future innovations may enable in utero therapies based on prenatal diagnoses.