Ask the Experts: Common High-Risk Fetal Health Conditions and What You Need to Know

It’s no secret that the journey of pregnancy is exciting and beautiful. But simultaneously, it can be a time filled with uncertainty and stress. In some cases, especially if your child is diagnosed with a condition in-utero, it can be a time filled with constant questions and fear surrounding finding the best care for your unborn child and yourself.

That’s where the experts at Ann and Robert H. Lurie Children’s Hospital of Chicago come in. The team at The Chicago Institute for Fetal Health consists of leading researchers and healthcare professionals in the field who specialize in guiding families from pregnancy to childbirth and beyond. Today, they’re sharing what you need to know about common high-risk fetal conditions, how they’re diagnosed, and how they are treated and managed. Keep reading to learn more.

Meet the Experts

In order to answer any and all of your high-risk fetal health concerns, we received insight from multiple experts from Ann and Robert H. Lurie Children’s Hospital of Chicago who are happy to connect you to all of the information you may be looking for:

Meet the Expert

Sheetal R. Patel, MD, MSCI, FAAP

Medical Director, Fetal Cardiology Program; Fetal Cardiac Co-Director, The Chicago Institute for Fetal Health

Read More About Dr. Patel →

Meet the Expert

Robin M. Bowman, MD

Director, Multidisciplinary Spina Bifida Center; Co-Director, Fetal Neurosurgery, The Chicago Institute for Fetal Health

Read More About Dr. Bowman →

Meet the Expert

Janelle R. Bolden, MD

Chief of Maternal-Fetal Medicine in the Department of Obstetrics and Gynecology at Northwestern Medicine

 

Read More About Dr. Bolden →

Meet the Expert

Amir Alhajjat, MD

Attending Physician, Pediatric Surgery, The Chicago Institute for Fetal Health

Read More About Dr. Alhajjat →

Meet the Expert

Aimen Shaaban, MD

Director, The Chicago Institute for Fetal Health

Read More About Dr. Shaaban →

Congenital Heart Defects

Congenital heart defects (CHDs) are the most common congenital disability and can be diagnosed before, at, or after birth. Congenital heart defects can affect the structure of a baby’s heart and, consequently, how their heart works. For instance, a congenital heart defect can affect how the blood flows through the heart and out to the rest of the body. These conditions include, among others, hypoplastic left heart syndrome (HLHS), septal defects such as a hole in the heart, tricuspid atresia, and muscle issues. 

Per the nationally-ranked experts at Lurie Children’s, CHDs can “vary from mild—such as a small hole in the heart—to severe—such as missing or poorly formed parts of the heart.” One common example of a congenital heart defect is a ventricular septal defect (VSD), an opening between the heart’s two lower chambers.

How it’s diagnosed

When asked how they diagnose CHDs, the experts at Lurie Children’s said: “Some congenital heart defects may be diagnosed during pregnancy using a special type of ultrasound called a fetal echocardiogram, which creates ultrasound pictures of the heart of the developing baby.” Each year, the fetal cardiologists at Lurie Children’s perform more than 2,000 fetal echocardiograms at multiple sites in the greater Chicago area. Their diagnostic accuracy exceeds 95%.

Suppose an abnormality is identified during the prenatal screening. In that case, a comprehensive fetal care consultation can be arranged at The Chicago Institute for Fetal Health at Lurie Children’s—a multi-disciplinary team of specialists who will discuss and coordinate the best treatment plan for your baby. This consultation will include the cardiac specialists involved in your child’s care after birth.

How it’s treated

Treatment may vary depending on the abnormality and nature of the congenital heart defect. These potential treatments include continual monitoring, medications, or surgery based on the diagnostic results and expert consultation.

Twin-Twin Transfusion Syndrome

Twin-twin transfusion syndrome (TTTS) is a condition that occurs in 10-15% of identical twin pregnancies in which the fetuses share a placenta but are in two separate amniotic sacs. The experts at Lurie Children’s noted that, in normal circumstances, the placenta maintains complex blood flow networks that balance the flow going through the umbilical cord of each fetus. However, in TTTS, these networks have abnormal connections that disrupt the normal balance resulting in low blood flow to one twin and high blood flow to the other.

As a result, the twin with the lower blood flow has low blood pressure, grows poorly, and has low amniotic fluid levels. Conversely, the recipient twin grows well, but the increased blood flow leads to high blood pressure that causes heart strain and high amniotic fluid levels. If left untreated, TTTS can lead to prematurity and significant injury to the organs in either twin.

How it’s diagnosed

It is recommended that all mono-di twin pregnancies (same placenta, two separate amniotic sacs) undergo screening ultrasounds every other week, starting no later than 16 weeks’ gestation, to look for TTTS and other pregnancy complications. TTTS is typically discovered during these screening ultrasounds by identifying the abnormalities in the appearance of the amniotic sacs. 

How it’s treated

Per the experienced specialists at The Chicago Institute for Fetal Health, the method of treatment is dependent on the severity. For more severe cases of TTTS, selective fetoscopic laser photocoagulation (SFLP) is the recommended treatment. This approach directly treats the cause of the disease—the abnormal connections in the placenta. The goals of the SFLP procedure are:

• To directly visualize the abnormal vascular connections on the surface of the placenta through a small operating telescope.
• To coagulate these connections with a laser fiber.
• To remove the excess fluid from the recipient twin’s sac, thereby relieving the tension on the mother’s abdomen.

After the laser portion of the SFLP procedure, the placental circulation is functionally separated. This way, there is no longer any significant sharing of placental blood supply between the babies.

Spina Bifida

Open spina bifida, or myelomeningocele, is a congenital disability that occurs when the bones in a baby’s spinal column do not properly close. The baby’s spinal cord extends through the bones and is attached to the skin, which may cause spinal cord damage. Dr. Robin Bowman, Co-Director of Fetal Neurosurgery at The Chicago Institute for Fetal Health and Director of Lurie Children’s Multidisciplinary Spina Bifida Center noted that this developmental abnormality is often found on the baby’s low back but can occur anywhere along the spinal column. 

An open spinal defect may cause weakness in the infant’s lower extremities and/or bowel and bladder function due to the exposed neural tissue during in-utero development. Symptoms can vary in severity based on the location of the defect. “Overall, the higher the sac of tissue and fluid is on the spine, the more function loss occurs,” Dr. Bowman said. 

How it’s diagnosed

“While this condition develops around the third week of pregnancy, the diagnosis of myelomeningocele is typically made based on key findings detected as early as 18-22 weeks into a pregnancy, commonly during a routine 20-week fetal ultrasound,” the experts at Lurie Children’s stated. In addition, fetal magnetic resonance imaging (MRI) might be obtained to gain additional information about the fetus’ brain and spinal cord. Elevated maternal blood or amniotic alpha-fetoprotein (AFP) level might suggest open spina bifida.

Per the experts at Lurie, there are some cases where a milder defect may not be detected via ultrasound until after birth. Postnatally, abnormalities can be diagnosed using magnetic resonance imaging (MRI) or computed tomography (CT) imaging.

How it’s treated

The Chicago Institute for Fetal Health is one of the only fetal centers in the country that offers fetoscopic repair of spina bifida—a minimally invasive approach for spina bifida repair in utero. Babies with the defect closed surgically before birth have been shown to have better long-term prognoses.

Congenital Diaphragmatic Hernia

Congenital diaphragmatic hernia (CDH) affects one in every 3,000 to 4,000 births. It is a congenital defect that develops during the formation of the diaphragm, the muscle that separates the chest cavity from the abdominal cavity and helps us breathe. In a diaphragmatic hernia, the diaphragm—which develops at about 8–10 weeks of pregnancy—does not completely form, and a hole remains between the chest and the abdominal cavities.

The severity of this condition ranges from a small hole in the diaphragm to no diaphragm on one side of the body. Depending on the hole’s size, the intestines, spleen, liver, and/or stomach may move up into the chest cavity. “This causes the lungs to develop poorly so that the baby is born with a smaller number of air sacs, blood vessels, and airways,” they noted. When this happens, breathing can be difficult or impossible.

How it’s diagnosed

“Fetal diaphragmatic hernia is typically diagnosed during ultrasound examination done by obstetricians as part of their routine prenatal care around the 20th week of pregnancy,” the experts at The Chicago Institute for Fetal Health stated. If a CDH is diagnosed during pregnancy, additional tests are recommended: a fetal echocardiogram (to determine if there is an associated congenital heart defect) and a fetal MRI (to more clearly evaluate the severity of the diaphragmatic hernia).

How it’s treated

Fetoscopic endoluminal tracheal occlusion (FETO) is sometimes offered during pregnancy in severe forms of fetal diaphragmatic hernia. FETO is an emerging, investigational treatment to help the infant’s lungs develop as much as possible before birth. The FETO procedure involves placing a balloon in your unborn baby’s airway for several weeks, which allows the lungs to grow. The balloon is later removed before the baby is born. For mild to moderate cases, the diaphragmatic hernia is repaired surgically after birth. 

At Lurie Children’s, fetal experts offer comprehensive postnatal repair and critical care in addition to the prenatal FETO intervention for severe cases of CDH. 

Cleft Lip & Palate

A cleft lip or cleft palate is a condition in which parts of the lip and/or palate do not develop properly early in pregnancy. Because an infant’s lips and palate develop separately, a child can be born with a cleft lip, cleft palate, or both.

The specialists at Lurie Children’s noted that a cleft lip is formed in the upper lip as either a small gap or dent in the lip and can continue into the nose; whereas a cleft palate is a condition in which the two plates of the skull that form the hard palate (roof of the mouth) are not entirely joined.

How it’s diagnosed

Sometimes a cleft lip and/or cleft palate are diagnosed through ultrasound when an asymmetry between the right and left nostril or a gap along the gumline appears. Evaluation of the craniofacial structure is part of the routine ultrasound examination done by many obstetricians as part of their routine prenatal care around the 20th week of pregnancy. The experts at Lurie Children’s noted that sometimes, the condition is not detected before a baby is born because it is not always seen in sonograms. When this happens, families usually begin a treatment plan as soon as possible after birth.

How it’s treated

Per the experts at Lurie Children’s, although cleft abnormalities occur in approximately one in every 700 births, they can be treated with surgery shortly after birth with highly successful results.

Many large children’s hospitals, including Lurie Children’s, have multidisciplinary teams dedicated to treating and managing children with cleft lip and palate. They often help guide the care of children with the condition from birth through adulthood. 

About Ann & Robert H. Lurie Children’s Hospital of Chicago

Led by a team of world-renowned pediatrics experts, Lurie Children’s is the #1 pediatric hospital in Illinois and an institution we trust for all things kids’ health. With 140 years of clinical expertise, research, and community engagement, the team at Lurie Children’s is committed to putting children and their families at the center of everything they do. We are honored to partner with Lurie Children’s to help educate our readers about how we can help our kids lead a healthier future. Learn more about Lurie Children’s and find a doctor near you today!

This post was in partnership with Ann & Robert H. Lurie Children’s Hospital of Chicago, but all of the opinions within are those of The Everymom editorial board. We only recommend products we genuinely love.