Related Experiment Video
Updated: Jul 2, 2026

FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Prenatal diagnosis and genetic screening--integration into prenatal care
1Division of Maternal Fetal Medicine, Dept of Ob/Gyn, University of New Mexico School of Medicine, Albuquerque, NM 87131, USA. vrappaport@salud.unm.edu
Insights
Perinatal medicine advances fetal health understanding. Prenatal screening and preconception genetic screening are crucial for diagnosing birth defects during pregnancy.
Area of Science:
- Perinatal Medicine
- Fetal Health
- Genetics
Background:
- Significant advancements in perinatal medicine over the last 30 years have improved understanding of fetal development.
- Evaluation of fetal health and screening for congenital anomalies are integral components of modern prenatal care.
Purpose of the Study:
- To provide a comprehensive overview of congenital anomalies.
- To review various prenatal screening methods for diagnosing birth defects.
- To discuss the role of preconception genetic screening in reproductive health.
Main Methods:
- Literature review of advancements in perinatal medicine.
- Overview of diagnostic techniques for fetal anomaly screening.
- Discussion of genetic screening protocols before conception.
Main Results:
- Prenatal screening methods have evolved significantly, enhancing the ability to detect fetal abnormalities.
- Preconception genetic screening offers opportunities for early risk assessment and family planning.
Conclusions:
- Early detection of birth defects through prenatal and preconception screening is vital for improved fetal outcomes.
- Continued research in perinatal medicine and genetic screening is essential for advancing reproductive healthcare.
Abstract:
In the last 3 decades, perinatal medicine has made tremendous advances in scientific knowledge and in the successful application of this knowledge toward understanding the fetal aspects of pregnancy. Evaluation of the health of the fetus and screening for birth defects has become an important part of prenatal care. This article provides an overview of birth defects and the various screening methods for diagnosing birth defects before birth. It also discusses the role of preconception genetic screening.
Related Concept Videos
Preventive Healthcare Services
Genetic Screens
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...
Human Genetics
The complex relationship between genetics and psychology is observable through common biological components such...
Pharmacogenomics: Identification of New Drug Targets
Pharmacogenetics and Pharmacogenomics: Overview
Documentation of Nursing Diagnosis
In some settings, data-driven computerized decision support systems are in place, allowing for more accurate nursing diagnoses. The database within one of these systems includes diagnostic labels defining characteristics, activities, and indicators for nursing. A nurse enters assessment...

