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How Will a Diagnosis Affect My Pregnancy?

Deciding to continue a pregnancy, or considering termination of the pregnancy, after diagnosis of a birth defect is an intensely personal decision. Your prenatal care team, and/or a genetic counselor from our Prenatal Diagnosis Program, can help you think through your options.

These are the common conditions detected with testing, and the decisions that may arise, given the specific diagnosis.

Down syndrome

Knowing your baby has this before birth usually will not make a difference in how you manage your pregnancy or give birth, although you might consider having a fetal echocardiogram, a special ultrasound that looks only at the baby's heart, and an ultrasound between 30 and 32 weeks, when certain common intestinal conditions are visible.

Trisomy 18

Knowing your baby has this before birth could make a difference in whether you decide to deliver vaginally or by Cesarean section. Also, parents and caregivers can plan how much intervention will be provided to the baby once it is born.

Spina bifida

Knowing your baby has this before birth could make a difference in whether you decide to deliver vaginally or by Cesarean section. Fetal surgery may be available to repair the opening in the spine before the baby is born, although it is still unclear how much this improves the baby's outcome. Early diagnosis of a neural tube defect would allow you to investigate this option.

Cystic fibrosis

A diagnosis of CF will not affect how your pregnancy or your delivery are managed. However, there may be some benefit in knowing ahead of time that your baby will have special needs. Some couples choose to wait for cystic fibrosis testing until their baby is born. A newborn cystic fibrosis blood test is now required by the state of New Hampshire.

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