Prenatal Genetic Testing Overview

Future parents may be concerned, especially women at an advanced maternal age or those with genetic health disorders, that their newborn baby will suffer from a serious health condition at birth. Because of this, Dr. Dennis Eisenberg and his OBGYN team provides Plano, Frisco and Dallas, Texas area couples with prenatal genetic testing options. Birth defect testing provides parents-to-be with information about whether their fetus has certain genetic disorders.

The Importance of Prenatal Genetic Testing

Prenatal genetic testing is first performed to determine if a woman or her baby may have certain diseases. Dr. Eisenberg offers screening tests to his patients in order to detect certain birth defects, including:

  • Trisomy 18 and Down’s syndrome- An extra chromosome in the baby causes heart defects and a certain level of mental handicap
  • Sickle cell anemia- A painful blood cell disease that causes pain, fatigue and recurrent infections
  • Cystic fibrosis- A breathing disorder that causes children to have chronic respiratory infections
  • Spina bifida- An open neural tube defect that causes the spinal cord to incorrectly close

How Birth Defect Testing is Performed

  • First trimester screening (11-13 weeks)- A maternal blood test and an ultrasound are performed to look for certain birth defects related to the baby’s heart and chromosomes
  • Second trimester screening (15-20 weeks) – A maternal serum screen is performed to determine if a woman is at an increased risk of having a baby with an extra chromosome or neural tube defect. An anomaly ultrasound is performed around 18-20 weeks to check the baby’s size and look for birth defects

If birth defect testing comes back abnormal, further diagnostic testing is usually performed to determine if a genetic defect is present. Common diagnostic procedures include:

  • High resolution ultrasound- A level II ultrasound is used to look at the baby in great detail to detect birth defects
  • Amniocentesis- A small amount of amniotic fluid is collected and analyzed to determine if a genetic disorder or chromosome disorder is present
  • Chorionic villus sampling (CVS)- A CVS test collects a tiny piece of placenta, known as chorionic villus, which is then tested for birth defects

Each prenatal genetic testing procedure is performed at different stages of a woman’s pregnancy. Dr. Eisenberg and his team will explain the benefits and risks, timing and insurance costs with each patient in great detail at the consultation.

It is important to note that certain birth defects might not be diagnosed until after the baby is born. Sometimes, the birth defect is immediately seen at birth. For other birth defects including some heart defects, the birth defect might not be diagnosed until later in life.

To learn more about prenatal genetic testing, or to schedule birth defect testing in the Plano, Frisco and Dallas, Texas area, please contact the office of Dr. Dennis Eisenberg today.

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