What if there's something wrong with your baby during pregnancy?

What is a fetal anomaly?

A fetal anomaly is an abnormality in a baby's body. It can be something you can see (such as a cleft lip) or something that affects the way a baby's body functions (such as a heart defect). It can be minor, or it can be severe enough to be fatal. Fetal anomalies happen during pregnancy, and they may be identified then. In some cases, they're identified at birth, and occasionally (as with a hearing defect), they may be identified when your baby is older.

A fetal anomaly is the same as a birth defect. It's also sometimes called a congenital disorder, congenital malformation, or congenital abnormality. (Congenital means something present at birth.)

About three percent of babies in the United States (and six percent of babies worldwide) are born with a fetal anomaly. (The incidence of anomalies may be much higher because these numbers often don't take into account terminated pregnancies or stillbirths.) In the U.S., birth defects account for 20 percent of all infant deaths, making them the leading cause.

Some fetal anomalies can be fully taken care of with surgery (sometimes even during pregnancy). Others will require special care at birth and/or through a child's lifetime. And some will prompt serious consideration of pregnancy termination.

Fetal anomalies are detected earlier than they used to be, thanks to early prenatal testing. Early detection gives parents an opportunity to learn about the anomaly and to make appropriate plans for their pregnancy and their baby.

For example, physical defects, such as neural tube defects, would be detected during a second-trimester ultrasound. In addition, an AFP blood test, also done during the second trimester, can also signal possible problems. And, for women at risk for genetic and chromosomal problems, chorionic villus sampling (CVS) provides a picture of your baby's chromosomes, and it can be done as early as 10 weeks of pregnancy. Amniocentesis can also be done mid-pregnancy to diagnose these disorders.

Advancements in first-trimester ultrasounds can help detect large and severe defects earlier on in pregnancy.

What causes congenital anomalies?

Congenital anomalies are caused by problems during development. In most cases, fetal anomalies happen randomly without any cause (meaning most are not related to anything you did or didn't do). Here are some of the most common causes:

• Abnormal chromosomes/genetics. A baby may have too many or too few chromosomes (structures that carry genetic material from both parents), or they may have a mutation (problems with the structure) of a chromosome. Some genetic syndromes (such as Down syndrome and cystic fibrosis) run in families. Some genetic syndromes are associated with birth defects, but not all. And having parents who are blood relatives also increases the risk of birth defects.
• Environmental factors. Prenatal exposure to certain drugs (illegal and prescription or over-the-counter medications), alcohol, unsafe foods, toxins and pollutants, certain infections (such as rubella, syphilis, and Zika) may increase the risk of a defect.
• Prenatal nutritional deficiencies
• Certain maternal health conditions, such as diabetes and obesity
• Advanced maternal age (having a child after age 35)

Sometimes more than one factor is responsible. And sometimes an environmental factor might only come into play because a baby has a genetic tendency for a condition. For example, if a baby who has a genetic tendency for a defect is exposed to an environmental trigger during a critical stage of development (most often in the first trimester), it may result in a congenital abnormality.

Types of congenital anomalies diagnosed in pregnancy

There are many types of congenital anomalies, from minor defects that may not affect your baby to major defects that can be life threatening or life altering.

Major congenital anomalies can be:

• External congenital anomalies include neural tube defects, microcephaly, cleft lip and/or palate, and defects of the limbs.
• Internal congenital anomalies include congenital heart defects, esophageal atresia, anorectal or large intestinal atresia/stenosis, and renal agenesis/hypoplasia.

Another way to categorize congenital anomalies is according to:

• Brain/spine defects, such as anencephaly and spina bifida
• Eye defects, such as anopthalmia/micropthalmia
• Heart defects, such as pulmonary valve atresia and stenosis
• Mouth/face defects, such as cleft lip and/or cleft palate
• Stomach/intestine defects, such as rectal and large intestinal atresia/stenosis, gastroschisis
• Muscle/bone defects, such as clubfoot and limb defects

What to expect after a fetal anomaly diagnosis

Most fetal anomalies are diagnosed during an ultrasound with a maternal fetal medicine specialist (MFM). Your ob-gyn may suspect your baby has an anomaly and refer you to an MFM, or your MFM may discover the problem during your routine second trimester ultrasound. Either way, maternal-fetal medicine doctors are experts at genetic screening and prenatal diagnosis. They have advanced skills for dealing with complications during pregnancy, labor, and delivery, and are likely the ones that will talk you through next steps.

Depending on the diagnosis, your MFM may refer you to physicians who specialize in your baby's specific condition. These specialists can guide you through the next steps of testing and treatment, if appropriate.

If your baby has a heart condition, for example, you'll see a heart specialist who will likely do specific testing, such as a fetal echocardiogram, and talk with you about the results, including treatment possibilities and long-term consequences. And if your baby has a defect such as cleft lip and/or palate, a facial surgeon may meet with you to discuss what the corrective surgery involves and when and how it will be done.

In most cases, your MFM will discuss genetic testing with you, such as amniocentesis or CVS. You may also meet with a genetic counselor. Both MFM specialists and genetic counselors understand congenital anomalies and what a specific diagnosis might mean for your family.

You may also meet with a neonatologist (a newborn pediatric specialist) if your baby will need immediate care after delivery.

After you learn of the diagnosis, you may be offered mental health counseling and other support that can help you gather information and make decisions going forward.

Will I need to terminate my pregnancy?

If you've been told that your baby has a serious fetal anomaly, you may decide to terminate the pregnancy, or you may decide to continue with the pregnancy. This decision is completely up to you – though changing abortion laws could make it very difficult to terminate (see below).

Some congenital anomalies can be managed surgically or non-surgically after your baby is born. These include physical defects such as hernias, cleft lip and palate, and clubfoot, as well as functional defects, such as metabolic, endocrine, and hematological conditions.

Certain conditions, such as heart defects, may require serious surgery in the first few days of your baby's life. And for some anomalies like spina bifida or twin-twin transfusion syndrome, specialists may recommend fetal intervention surgery (meaning your baby may need surgery in utero).

Other anomalies – such as neural tube defects, Down syndrome, and heart defects – can have lifelong consequences, requiring regular follow ups or surgeries. The severity of the anomaly and the prognosis for your baby's future may play a major role in your decision about continuing with your pregnancy. Your providers can talk with you about the health outcomes for babies with the condition, and what the survival rates are for severe congenital anomalies.

In some cases, a fetal anomaly can be fatal to the baby, causing stillbirth or death shortly after birth. More than 4,000 infants die annually because of birth defects.

Fetal anomalies are not necessarily life-threatening to moms, but continuing the pregnancy itself does come with risks, such as the risk for preeclampsia or other health conditions.

Here are some things to think about when deciding whether to terminate or continue your pregnancy:

• Do you understand all you can about your baby's diagnosis? Do you need more information before you make your decision?
• What are the long-term consequences of your decision? Will your baby require extensive surgery? Are these surgeries risky? Or will your child have a long-term disability (minor or major)?
• What special needs will your child have and do you have the support you need to help you?

Depending on what you decide, there are some things you should know about both pregnancy termination and continuing your pregnancy.

Pregnancy termination

Abortions happen in desired pregnancies, and many of these are because of fetal anomalies. Termination can be an especially painful choice for a couple who was happy to be pregnant and was looking forward to having their baby. You'll want to talk with your healthcare providers and your partner (if you have one) to determine what's best for your family.

If you decide to terminate, it's important to learn about the current abortion laws in your state and how they pertain to your situation. Your healthcare provider can help you do this. They can also help you obtain safe care in the most practical way possible for you. The procedure may differ depending on how far along you are in your pregnancy.

Continuing your pregnancy

If you decide to continue the pregnancy, you'll want to plan for the rest of your pregnancy and delivery accordingly. You may need a maternal-fetal medicine specialist for your pregnancy and you may need to deliver in a hospital with special accommodations. Your baby may need special care after delivery, and may have to spend some time in the NICU. Some conditions will require surgery immediately after birth.

Some hospitals have excellent support services for parents in your situation. If your local hospital doesn't have these resources, you may be able to travel to one that does. A social worker (from your local hospital) can help you figure out what's available in your surrounding area, and how to get care there.

Questions to ask your provider after a congenital anomaly diagnosis

One of the most important things you can do is to gather information about the diagnosis and what it means. Gathering information will not only help you feel more in control of your situation, it will also help you make well-informed decisions and better prepare for what lies ahead.

Don't hesitate to ask questions of your doctors and other healthcare providers. Take notes. (It's a good idea to document all of your baby's prenatal and postnatal healthcare records, including all appointments, tests, diagnoses, treatments, medications, etc.)

Here are some questions you might ask:

• What congenital anomaly does my baby have, and how severe is it?
• Is there anything I need to know about my own health now that we know our baby has a congenital anomaly?
• Will we have more information later – after more tests or after the baby grows more?
• How will this affect my baby physically? Will it affect their ability to walk or talk, for example?
• How will this affect my baby mentally? Will it affect their ability to learn, for example? Will they be able to go to school?
• Will my child be able to live on their own when they grow up?
• Is it life limiting? How long do children usually live with this condition?
• What health problems might my child have in the future?
• Will my baby need surgery? What are the goals and the risks of the surgery?
• What support will my child need in the future? Some birth defects will require long-term therapy and support, such a physical therapy, speech therapy, nutritional expertise, and occupational therapy.
• Is my baby suffering or will they suffer?
• Can I take my baby home after the birth? Will they need special care – such as a supplemental feeding system or more frequent medical monitoring, for example? (Do as much as you can to line up what your baby may need ahead of time. Preparing will give you some control of the situation.)
• Do you know of a support group for parents of children with this condition?
• How can I increase the quality of life for my child, long-term?

How a congenital anomaly diagnosis can affect you

Hearing that your baby has a congenital anomaly can be devastating. You may be shocked by the news, or you may feel numb, angry, or in denial. You may even feel guilty and wonder if you did something to cause this. Maybe you're confused and afraid of what lies ahead. All of these feelings are perfectly natural and normal. Remember, the majority of anomalies happen randomly without any cause. But even if you do know that, it's understandable to have a lot of emotions.

You're coping with distressing news, learning about your child's medical diagnosis, and at the same time facing important decisions. Often what's most difficult for parents is dealing with the uncertainty of the situation. You may even be faced with decision making in the absence of any clear picture of what the future holds for you and your baby. "Negotiating uncertainty" was an over-arching theme of researchers who looked into how parents-to-be navigated the diagnosis of a severe congenital anomaly.

Healthcare providers can help you gather, interpret, and understand information about your baby's condition – about the diagnosis and all of its implications. At the same time, you'll need emotional support to cope with your feelings.

How to cope after learning your baby has a congenital anomaly

Your healthcare provider and/or hospital staff may reach out to you after you receive your baby's diagnosis. Some hospitals even have special staff and services to help parents navigate this situation by providing medical expertise as well as emotional support. Staff might include obstetricians, maternal-fetal medicine specialists, pediatricians, nurses, social workers, and chaplains. Some hospitals also offer perinatal hospice services for families dealing with a fatal diagnosis.

Once you do learn of the news, knowing that you have someone to support you can be an enormous help as you cope with what you've just learned about your baby. Here are some steps you might consider once you're ready.

The most important thing to remember is that you should do what feels best for you. These are a few suggestions, but everyone handles their emotions differently.

What to do after you learn of the diagnosis

• Take some time to yourself – or with your partner. If you have the time to do so, acknowledge the situation with your partner and talk through your feelings, questions, and concerns. If you need to take hours, days, or even weeks to understand what's happening, remember that's okay. You'll likely be processing this information and situation for years to come – and that's normal.
  
  Also remember that however you need to process this information is okay. If it means distracting yourself by doing something else for a little while or by facing the situation head on in the moment, doing what feels right for you and your family is ultimately the best thing you can do.
• Once you've processed the situation, tell your family and friends (if you feel ready to do so). Ask for their practical help as well as emotional support. Unless they've gone through this themselves, they may not understand how you're feeling, and you may choose not to rely on them for emotional support. However, family members can be helpful – by listening, driving you to appointments, or taking care of your other children.
• Find others who have gone through something similar. Your provider or hospital may be able to put you in touch with support groups or connect you with other families who've navigated a similar congenital anomaly diagnosis in the past. Connecting with other parents who have gone through something similar may help you see light at the end of the tunnel, whenever and whatever that may be. They're likely tounderstand your thoughts and emotions, and offer a shoulder to lean on. They can also share their own journey with you, which can help you to feel less alone through your own process.
• Look for online groups. Social media sites have groups that offer support and sharing for parents who have had a child diagnosed with the same condition as your baby, or who have faced tough decisions after a fetal anomaly diagnosis.
• Join BabyCenter's Community. There are many BabyCenter Community groups of parents facing a congenital anomaly. Here's a group of parents of spina bifida kids, for example. And here's a community group for cleft lip/cleft palate families. There are also groups that discuss medical terminations and other defects. Here's the page to help you find the right group for you.

If you decide to turn to others with similar stories or to online communities, remember that every family's story is different. If connecting with others in this way is causing you more stress or heartache, try limiting the time you spend reading or talking to others – or even turn to other coping strategies instead. There's no right or wrong way to cope with the emotions you're feeling.

How to prepare for the future

You may be unsure of how to move forward after learning about a serious diagnosis and making tough decisions, especially if you have other children. Here are some ways to prepare your family. 

• Involve and reassure your other child(ren). Help them prepare for the birth of their sibling. Tell them what to expect (if the baby will have a physical difference, for example, or will need to be in the NICU). Some parents choose to make the birth as normal and celebratory as possible – though what you do is entirely up to you.
  
  If you're not going to continue with the pregnancy, and your children are old enough to understand, you can explain what they need to know.
  
  If you think it might be helpful, enlist the help of a mental health professional who can help your child explore their feelings and become comfortable with the hospital environment (if you'll all be spending time there). Share the situation with your child's teachers or daycare providers, so they know that things may be stressful or confusing for your child right now.
• If you need help arranging for the financial expense of caring for your child or for healthcare while pregnant, talk with a social worker. There are organizations, foundations, and government programs that may be able to help.
• Consider arranging for postpartum help. In addition to family and friends (if available), consider hiring a postpartum doula to help with your recovery and your baby's. If possible, find someone who has experience helping parents who have babies with special needs.

If you're recovering from pregnancy termination (either by surgery or vaginal delivery), you'll also need help and time off from work and other responsibilities. Take it easy and try to have a family member with you for a few days to help care for you and handle things around the house.

A fetal anomalies diagnosis during pregnancy can be scary and uncertain. Remember that your providers, family, and friends can offer support, helpful information, and a shoulder to lean on. Take some time for yourself to process the information, but also to rest your mind and body. Those around you can provide comfort in a time that may feel uncertain, and help you as you move forward through the weeks and months ahead.