How prenatal genetic testing can help plan for what’s ahead

Key takeaways

• Prenatal genetic testing may help explain certain unexpected ultrasound findings.
• Results may help guide pregnancy care and planning for delivery.
• Identifying a genetic condition before birth may help the medical team prepare for a baby’s care.
• Learning more before birth can give families time to process information and make practical arrangements.

How prenatal genetic testing may help explain ultrasound findings

Prenatal genetic testing may be offered for many reasons, including ultrasound findings, a positive screening result, family history, or other factors that suggest a higher chance of a genetic condition. This testing may provide answers to provide clarity in your pregnancy. When an ultrasound shows something unexpected, it is natural to have questions and to want as much information as possible about what it may mean for your baby.

Prenatal genetic screening estimates the chance that a baby has certain genetic conditions. Prenatal diagnostic testing looks for genetic conditions that may help explain unexpected ultrasound findings or other concerns about your baby’s growth or development.

Although no test can answer every question, the results may give you and your healthcare team important information to help guide your pregnancy care, plan for your baby’s birth, and prepare for what may come next.

How the results may help during pregnancy

If genetic testing identifies a genetic condition, that diagnosis can help you and your healthcare team better understand your baby’s possible needs and make informed decisions regarding your pregnancy. It may guide your care during pregnancy, help your medical team plan for delivery, and give your family more time to prepare for what may come next.

Depending on the results, your care team may suggest:

• More frequent ultrasounds to check your baby’s growth and development

• Extra monitoring during pregnancy

• Additional fetal imaging to look more closely at certain organs, such as your baby’s brain and heart

• Care from a doctor who specializes in high-risk pregnancies (called a maternal-fetal medicine specialist, or MFM)

• Inform maternal care for a health pregnancy

For certain conditions, treatment or interventions may be offered before birth.

Planning for your baby’s birth

Knowing your baby’s diagnosis before birth can help your healthcare team plan for a safe delivery.

Your care team may provide you with recommendations about:

• Where your baby is born

• When delivery should happen

• Whether a vaginal birth or cesarean birth is an option

• Which specialists can be available when your baby is born

Having this information can help you make decisions for a birth plan that you are comfortable with. You may also be able to meet with pediatric specialists before delivery. They can explain what to expect after birth, discuss possible treatments, and answer your questions.

There may still be uncertainty, but having a plan can help many families feel more informed and prepared.

Preparing for care after birth

Some babies may need extra medical care soon after birth. Knowing the diagnosis before birth can help the medical team prepare.

Depending on the genetic test result and ultrasound findings, your baby may need:

• Help with breathing

• Surgery

• Specialized treatments or medicines

• To spend time in the neonatal intensive care unit (NICU), a hospital unit for newborns who need extra medical care

Planning ahead can help make sure the right doctors, nurses, and equipment are ready when your baby is born.

Preparing your family

A prenatal diagnosis can do more than help your medical team prepare. It can also give you and your family valuable time to process the information, ask questions, and make practical arrangements.

You may choose to:

• Learn more about your baby’s condition

• Connect with support groups or other families

• Plan time away from work if your baby may need extra care

• Prepare brothers, sisters, and other family members

• Plan for a possible NICU stay or follow-up appointments after birth

Many parents say that having more information helps them feel more prepared for the weeks and months ahead.

Planning for what’s ahead

Prenatal genetic testing results can help families and healthcare providers make important decisions about pregnancy management and delivery. They can also help guide care of your newborn. Last, but not least, learning about a genetic condition before your baby is born can help your family to prepare emotionally.

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