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More on Prenatal Genetics
- Chance a Chromosome Abnormality Will Occur Again: Numerical, Structural (Inherited and De Novo), Mosaicism
- Chromosome Abnormalities
- Chromosome Abnormality vs. Single Gene Defect
- Chromosome Studies: Karyotype, Extended Banding, Fluorescence In Situ Hybridization (FISH), and Chromosomal Microarray Analysis
- Down Syndrome (Trisomy 21)
- Genetic Services: When, Where, How
- Glossary - Medical Genetics
- How Chromosome Abnormalities Happen: Meiosis, Mitosis, Maternal Age, Environment
- Medical Genetics
- Medical History and Genetic Testing
- Mosaic Down Syndrome
- Mosaicism
- Multifactorial Inheritance
- Non-Traditional Inheritance
- Numerical Abnormalities: Overview of Trisomies and Monosomies
- Overview of Chromosome Abnormalities
- Overview of Single Gene Defects
- Single Gene Defects
- Structural Abnormalities: Deletions (Cri du Chat) and Duplications (Pallister Killian)
- Studies for Single Gene Defects: DNA (Direct and Indirect)
- Support Groups
- The Human Genome Project
- 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
- Vitamin, Gene, and Enzyme Replacement Therapy
- When to Seek Genetic Counseling
- X-linked Agammaglobulinemia
- X-linked Dominant: Incontinentia Pigmenti
- X-linked Recessive: Red-Green Color Blindness, Hemophilia A
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Genetics
Prenatal Genetics
Couples are referred for genetic evaluation before or during a pregnancy for a variety of indications including advanced maternal age, abnormal screening results, family history of a genetic condition, exposures during a pregnancy, or abnormal findings on a prenatal ultrasound, choronionic villus sample, or amniocentesis.
Our purpose is to help patients understand the risks, cause and inheritance of genetic disorders, and to educate families about the available options for planning a family including prenatal testing and when possible preimplantation genetic diagnosis.
Appointments typically last one hour, depending upon the complexity of the case. Patients should bring or send relevant medical records and genetic test results and come prepared with information about family members and any medical conditions that run in the family.