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Updated: Mar 27, 2026
07:34
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
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Development of prenatal screening--A historical overview.
1Department of Obstetrics and Gynecology, Columbia University Medical Center, 662 W 168th St, PH1666, New York, NY 10032-3725.
Seminars in Perinatology
|January 15, 2016
Summary
Prenatal screening has evolved from single markers to advanced cell-free DNA tests for aneuploidy. Expanding screening to include pregnancy complications and genetic disorders is crucial for public health.
Area of Science:
- Obstetrics and Gynecology
- Medical Genetics
- Public Health
Background:
- Early prenatal screening focused on single markers for neural tube defects.
- Down syndrome risk estimation evolved using multiple serum and ultrasound markers.
- Current advancements include maternal plasma cell-free DNA testing for aneuploidy screening.
Observation:
- Maternal plasma cell-free DNA testing offers improved screening performance for aneuploidy.
- The cost of cell-free DNA testing is a barrier for routine public health implementation.
- Screening is expanding to include pregnancy complications like pre-eclampsia.
- Prenatal screening for cardiac abnormalities, fragile X syndrome, and recessive genetic disorders remains underutilized.
Findings:
- Cell-free DNA testing can be cost-effective when combined with existing multi-marker tests.
- Early intervention with low-dose aspirin can prevent pre-eclampsia when initiated before 16 weeks gestation.
Implications:
- Widespread adoption of advanced prenatal screening methods is recommended.
- Public health planners should consider expanding prenatal screening to cover a broader range of conditions.
- Integrating new screening technologies and expanding screening protocols can improve maternal and fetal health outcomes.
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