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Child Health A-Z
Testing for Birth Defects
Testing for Birth Defects
There are many types of tests that may be performed to determine whether a child has a genetic birth defect. Listed in the directory below are some, for which we have provided a brief overview.
Last Update
February 3, 2008
February 3, 2008
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Child Health A-Z
- X-linked Agammaglobulinemia
- Chance a Chromosome Abnormality Will Occur Again: Numerical, Structural (Inherited and De Novo), Mosaicism
- Autosomal Dominant: Marfan Syndrome
- Overview of Birth Defects
- Biochemical Genetic Testing
- Chromosome Abnormalities
- Overview of Chromosome Abnormalities
- Chromosome Studies: Karyotype, Extended Banding, Fluorescence In Situ Hybridization (FISH), and Chromosomal Microarray Analysis
- When to Seek Genetic Counseling
- The Difference Between a Chromosome Abnormality and a Single Gene Defect
- Phenytoin (Dilantin)
- Down Syndrome (Trisomy 21)
- Fetal Alcohol Syndrome
- Overview of Single Gene Defects
- The Human Genome Project
- How Chromosome Abnormalities Happen: Meiosis, Mitosis, Maternal Age, Environment
- Identifying Teratogens
- Identification, Treatment, and Prevention of Birth Defects
- Medical Genetics
- Medical History and Genetic Testing
- Mitochondrial Inheritance: Leber's Optic Atrophy
- Mosaicism
- Mosaic Down Syndrome
- Multifactorial Inheritance
- Evaluating a Child for Birth Defects
- Examples of Non-Teratogenic Agents
- Non-Traditional Inheritance
- Numerical Abnormalities: Overview of Trisomies and Monosomies
- Online Resources - Medical Genetics
- Overview of Newborn Screening for Birth Defects
- Before Your Next Pregnancy
- Autosomal Recessive: Cystic Fibrosis, Sickle Cell Anemia, Tay Sachs Disease
- Other Arrangements: Rings and Inversions
- Genetic Services: When, Where, How
- Single Gene Defects
- Structural Abnormalities: Deletions (Cri du Chat) and Duplications (Pallister Killian)
- Studies for Single Gene Defects: DNA (Direct and Indirect)
- Support Groups
- Examples of Teratogens
- Teratogens
- Translocation Down Syndrome
- Translocations
- Trinucleotide Repeats: Fragile-X Syndrome
- Trisomy 18 and 13
- Turner Syndrome
- Types of Chromosome Abnormalities
- Uniparental Disomy: Prader-Willi Syndrome, Angelman Syndrome
- Uses of Genetic Testing
- Varicella
- Vitamin, Gene, and Enzyme Replacement Therapy
- X-linked Dominant: Incontinentia Pigmenti
- X-linked Recessive: Red-Green Color Blindness, Hemophilia A
- Chromosomal Abnormalities
- Down Syndrome (Trisomy 21)
- Trisomy 18 and 13
- Turner Syndrome
- Genetic Disorders Associated with Congenital Heart Disease
- Down Syndrome (Trisomy 21)
- Glossary
- Medical Genetics
- Chromosome Abnormalities
- Evaluating a Child for Birth Defects
- Genetic Services: When, Where, How
- Glossary
- Identification, Treatment, and Prevention of Birth Defects
- Multifactorial Inheritance
- Non-Traditional Inheritance
- Online Resources - Medical Genetics
- Overview of Birth Defects
- Single Gene Defects
- Support Groups
- Teratogens
- Testing for Birth Defects
- The Difference Between a Chromosome Abnormality and a Single Gene Defect
- Uses of Genetic Testing
