Genetic Counseling can help families with:

• A child already affected by a genetic disease or disorder
• Several family members who have an abnormality
• A child who has an abnormal growth and/or development pattern
• Someone with a birth defect
• A history of infertility or miscarriage

Several factors make expecting mothers good candidates for genetic testing and counseling:

• Pregnancy after age 35
• Pregnancy when there is a family history of some genetic disease or birth defect
• Pregnancy with an ultrasound abnormality
• Pregnancy with an abnormal MSAFP or Triple Screen
• Pregnancy with exposure to chemicals, drugs or infection

Services include:

• Complete medical history and family tree analysis
  
• Prenatal testing through amniocentesis and chorionic villus sampling
  
• Prenatal risk counseling
  
• Diagnostic physical examination
  
• Chromosome analysis and karyotyping
  
• DNA (molecular) family studies
  
• Genetic counseling
  
• Comprehensive reports to referring physicians and families
  
• Parent advocacy
  
• Help with finding the right community resources
  
  

TEAM CARE

Families trying to decide about family planning and care for affected children need correct information. A team of physician geneticists, genetic counselors, a parent advocate, molecular geneticists and cytogeneticists pool their expertise to help establish the right diagnosis. At their disposal are hundreds of pediatric professionals and special equipment at The Children's Mercy Hospital.

Specialized laboratory tests are performed on-site:

• Cytogenetic evaluation
  
• Biochemical evaluation
  
• DNA (molecular) analysis
  
  

A physician geneticist makes the final diagnosis, using lab test results and consultations with other specialists. This physician provides expert diagnosis and counseling to families facing complex problems. Counseling includes talking about the genetics facts and trying to help the family adjust emotionally.

Genetic counselors also are experts at helping families cope. They collect family history information needed for each diagnosis and counsel families.

The parent advocate and support coordinator helps families find community resources they will need.

PRENATAL COUNSELING

This service is for families with special concerns about a pregnancy. Pediatric and other specialists in perinatology, genetics, neonatology, cardiology, radiology and orthopedics are part of the care team. State-of-the-art ultrasonography, amniocentesis and chorionic villus sampling are used to help couples find answers they seek. Comprehensive care to each familyis the care team goal. This care begins with the right diagnosis and risk assessment. Support for the familyis ongoing.

REFERRALS

Children's Mercy Hospital staff, other medical institutions, private physicians and families can arrange a patient's visit. After the patient's genetic evaluation, the referring doctor receives a letter from the team. A summaryof the findings discussed with the parents, a risk estimate for recurrence of the disorder and a review of family issues and options are lincluded.