My Unborn Baby Has Been Diagnosed With a Condition

About 5 percent of all babies in the United States are born with some type of medical issue, like a congenital heart condition or genetic disorder. Some of these conditions aren’t obvious until a child reaches toddlerhood or even adulthood. However, thanks to advanced testing, doctors can diagnose some medical issues even before your child is born.

For example, a screening of your blood can reveal some disorders in your child. Noninvasive prenatal testing (NIPT) can locate your child’s DNA in your blood and check for conditions related to some chromosomes, such as:

• Down syndrome (trisomy 21)
• Turner syndrome (monosomy X)
• Edwards syndrome (trisomy 18)

Ultrasounds today also provide a clearer picture of fetuses than ever before. Your doctor can look at your baby’s spine, brain, heart and many other organs with this noninvasive and safe imaging technique. During your second trimester, your doctor will perform an anatomy scan (or anomaly scan) using ultrasound to check your child’s organs for possible abnormalities.

If one of these tests does show abnormal results, you may feel stressed and worried. But even if you don’t know what comes next, rest assured your doctor will do whatever they can to offer answers.

If your child is diagnosed with a condition before birth, you can expect some changes in your pregnancy care. In general, you will follow these steps:

1. Meet with a Maternal-Fetal Medicine (MFM) Doctor

Maternal-Fetal Medicine (perinatologist) doctors have highly specialized training to care for mothers and babies at high risk for complications during pregnancy or birth. Along with your OB/GYN, your MFM doctor will help monitor your pregnancy and make recommendations for your delivery. During your first appointment, you might:

• Discuss test results or the need for more testing.
• Give DNA samples from you, your partner or your baby for genetic testing.
• Have a more detailed ultrasound to examine your baby.
• Learn more about your child’s condition or conditions.
• Talk about a during-pregnancy care plan.

We recommend you bring a friend or family member to your MFM doctor appointment to help take notes and give you emotional support. You may have multiple options for a treatment plan, so you’ll need to be able to keep track of them to make an informed decision.

2. Schedule More Testing

Ultrasounds and blood tests can be highly accurate, but the results may change as the pregnancy progresses. Some abnormalities may be seen later in pregnancy, after an initial normal appearing ultrasound. On the other hand, some conditions may even go away before birth. For instance, your baby may have a hole in their heart early in the second trimester that closes during the third trimester.

That’s why you’ll need more testing and more appointments during your pregnancy. For example, you may have ultrasounds every few weeks to monitor your unborn baby’s health. Fetal magnetic resonance imaging (MRI) is another safe way to image the baby and this may be recommended in cases where your MFM feels it may provide more information than ultrasound.

3. Discuss the Possibility of Fetal Surgery

With the amazing new advancements in surgery, doctors can treat some conditions before your baby is born. Fetal surgeries may help treat conditions, like certain:

• Congenital heart defects
• Spina bifida
• Lung masses
• Tumors

Some fetal surgeries can be performed while the baby is in your uterus using small incisions (fetal endoscopic surgery). Other surgeries require a larger incision, similar to a C-section incision, to temporarily remove your baby from your uterus to perform surgery. After the fetal surgery, the surgeon will then place your baby back into your uterus and repair the incision, so that for the remainder of your pregnancy your baby can continue to grow and develop. You may need to stay on bed rest after your fetal surgery.

Neither you nor your baby will feel any pain or discomfort during fetal surgery. Anesthesia will help keep both of you comfortable and relaxed. And after the surgery, your body provides the perfect place for your child to heal.

Not every baby with a congenital abnormality is a candidate for fetal surgery. If your MFM doctor feels that your baby may benefit from this type of intervention, they will discuss it with you and may make a referral to another physician who specializes in fetal surgery.

4. Make a Plan for Birth

As you enter your third trimester, you and your doctors will make a plan for your child’s birth. You may need a Cesarean section (C-section) or an induction of labor to deliver your baby safely at a specific time.

You may also find your delivery room crowded with caregivers.

For example, a special team may be there to care for you, and another special team from the neonatal intensive care unit (NICU) may be there to care for your baby. Your doctor will go over exactly what you can expect during and after your delivery, so you feel as prepared as possible.

The Memorial Healthcare Maternal-Fetal Medicine specialists offer expert diagnosis and management of congenital conditions. They work closely with the pediatricians, pediatric surgeons and NICU team at Joe DiMaggio Children’s Hospital to care for you and your baby.

Learn more about our on-site NICUs that provide 24/7 critical care for infants.