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Patients and Families

Parents' Frequent Questions

The Division of Human Genetics at Cincinnati Children's Hospital Medical Center provides answers to the following frequent questions:

Who May Use Genetic Services?

  1. Individuals with birth defects or genetic disorders and their relatives
  2. Individuals who have genetic conditions requiring specialized care
  3. People at risk for an inherited disorder due to their family history or ethnic background
  4. Women who are 35 years or older and are pregnant or considering pregnancy
  5. Women who are concerned about the effect of medicine, drugs, X-rays, or other exposures in pregnancy
  6. Couples who have had infertility, miscarriages, or stillbirths

Who Provides Genetic Services?

Our medical team consists of physicians, genetic counselors and clinical nurse specialists. Often, several of these board certified genetic specialists are involved in your visit.

How Can Genetic Services Help?

We use the information you provide about your child and your family, medical records, physical exams, and test results to:

  1. make or confirm a diagnosis
  2. help you understand the facts about the condition and what to expect in the future
  3. provide the best treatment available for family members with genetic conditions
  4. teach you and your family how inherited disorders are passed on, and about risks for specific family members
  5. explain the choices available to you
  6. help your family make the best possible adjustment to the condition
  7. bring you up to date with the latest information available
  8. answer your questions

What Genetic Services Are Offered?

Genetics Clinic

When you come for your appointment, expect a thorough review of your medical and family histories. A family tree, or pedigree, will be drawn. You may be asked to bring family photos. Physical examinations often take place. We tell you about available tests. Once the diagnosis has been made, we offer treatment, counseling, and referrals to other needed services.

Prenatal Diagnosis Services

We offer specialized counseling for pregnant women and their partners who are concerned about genetic or environmental risks. We inform about relevant tests and options for treatment and management. If further testing is right for you, we can refer to a perinatologist for tests such as ultrasound, chorionic villus sampling (CVS), amniocentesis, and maternal blood tests (AFP or triple screen).

Hospital Consultations

Geneticists are available to see hospitalized babies and children who have suspected birth defects, genetic disorders, or metabolic diseases. Referrals can be made 24 hours a day for diagnosis and management.

What Genetic Services Are Offered?

Specialty Clinics

Complete management of the following conditions is available.

  • Cleft lip/cleft palate
  • Connective tissue disorders
  • Craniofacial anomalies
  • Familial cancers
  • Gaucher disease
  • Metabolic diseases
  • Neurofibromatosis
  • Skeletal dysplasias
  • Tuberous sclerosis