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Genetic Counseling Services

Lehigh Valley Health Network (LVHN) offers genetics counseling for moms-to-be who are at risk or suspected of having an inherited chromosomal abnormality (also called a birth defect) or a baby born with an inherited disorder. Genetic counseling is an integral part of genetic testing and treatment.

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  1. Services and Treatments
  2. Specialty Care
  3. Women’s Health
  4. Pregnancy Care and Childbirth
  5. High-Risk Pregnancy Care
  6. Genetic Counseling Services

You can take comfort knowing that our certified genetic counselors have expert training in genetics and counseling. Their role is to provide information about the likelihood your child has or will have a genetic disorder. They break down complex genetic information, so you can better understand it and make educated decisions about which tests may make a difference before or after pregnancy.

What is a genetic counselor?

Your LVHN genetic counselor is a master’s-level provider who has passed an examination to certify their knowledge. To provide the highest level of care, our licensed genetic counselors work closely with:

  • Maternal fetal medicine specialists, or perinatologists, who specialize in providing care to women with high-risk pregnancies
  • Geneticists, who are medical doctors with extra training to understand inherited disorders
  • Neonatologists, who are medical doctors that will care for your baby immediately following birth

Your genetic counselor will assess your personal medical history and the health history of individual family members. This is one of the most important tools available for determining whether you are at risk for a disease or condition that is passed through family genes (hereditary). 

Armed with this information, genetic counselors can recommend what tests will be beneficial to you or your baby. They can help you understand the implications of each genetic test, so that you can make informed decisions.

What is prenatal genetic counseling?

Genetic counseling can offer peace of mind for pregnant couples who have:

  • Begun pregnancy at age 35 or older
  • A personal or family history of genetic abnormalities or birth defects
  • A child previously born with a genetic condition or birth anomaly
  • Experienced pregnancy loss
  • A screening result that indicates the need for genetic testing

Knowing and learning about your baby’s disorder before birth can help you feel more prepared, regardless of whether there is a treatment. If no treatment is available for an identified disorder, your genetic counselor will provide educational resources and support groups to help you cope. By identifying genetic disorders early, you may have access to effective, sometimes life-saving, treatments, including:

Blood transfusions

LVHN offers transfusions for moderate-to-severe fetal anemia (low red blood cell count).

Medical therapy

When your baby has an abnormal heart rhythm (arrhythmia), LVHN can deliver medication to your developing baby that will correct the problem. 

Genetic disorders in newborns and children

In some cases, you or a provider may suspect your child was born with an unknown genetic condition that could affect their health or development.

If your newborn or child has a suspected genetic abnormality, we may refer you to a genetic counselor. Genetic abnormalities may be apparent or masked, they include:

  • Congenital heart defect
  • Sickle cell disease
  • Cystic fibrosis
  • Cleft lip or palate
  • Tay-Sachs disease

Your LVHN genetic counselor can help you understand:

  • The likelihood of your child having inherited a genetic defect
  • Whether testing will be beneficial in helping you identify a disease 
  • The results of genetic testing and what they mean for your child
  • What treatments may be necessary 
  • What resources are available to help you cope with the diagnosis of a genetic disorder
     

Alyssa Machain

rare heart-rhythm disorder patient

Alyssa Machain and her husband, Brandon, knew from the start they wanted three or four children. For most young couples, having a big family is well within reach. But for Machain, 30, even one pregnancy could put her and the baby at risk.

Read Alyssa’s story

Related Conditions

High-Risk Pregnancy
Congenital Heart Defects
Sickle Cell Disease
Cystic Fibrosis
Arrhythmia (Irregular Heartbeat)
Sickle Cell Disease in Children

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