Common Fetal Anomalies

Fetal anomalies are conditions that affect the fetus that can potentially have detrimental and lasting effects for the baby. Our team of multidisciplinary providers treats a wide range of congenital conditions, and some of the most common we see include the following.

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Conditions we treat:

Congenital Diaphragmatic Hernia (CDH): Congenital diaphragmatic hernia is a condition in which a fetus’ diaphragm, which separates the chest from the abdomen, develops a hole that allows the abdominal organs to migrate up into the chest. These cases can range from mild to severe, and surgical intervention is used after delivery to close the hernia. In severe cases where the chest cavity has become so crowded that the lungs become underdeveloped, a fetal surgery treatment called fetoscopic endoluminal tracheal occlusion, or FETO, can be performed to facilitate the growth of the lungs.

Congenital pulmonary airway malformation (CPAM): Congenital pulmonary airway malformation (CPAM) is the most common congenital lung lesion, though it is still rare. A CPAM can be a mass of tissue or cyst of abnormal lung tissue that continues to grow but does not function properly. Most cases of CPAM are small enough that they don’t pose any severe risks to a baby during pregnancy and can be removed after birth. However, large lesions may increase risk of serious complications to the baby and the mother. For example, a large lesion may press on the heart, leading to fetal heart failure and maternal mirror syndrome. Because of these risks, fetal surgical intervention may be recommended. 

Gastroschisis: Gastroschisis is a congenital condition caused by a hole in the abdominal wall next to the belly button. This hole, which can vary in size, allows the baby’s intestines to extend outside of their body. Sometimes, other organs like the stomach and liver can also be found outside the body. Once the baby is born, a surgeon will place the organs back inside the belly and close the opening.

Myelomeningocele (Open Spina Bifida): Like all kinds of spina bifida, myelomeningocele is a neural tube defect that prevents the backbone from forming and closing as it should. Also called open spina bifida, myelomeningocele is the most serious type of spina bifida where a fluid-filled sac protrudes from an opening in the baby’s bak and contains part of the spinal cord and nerves. Because those nerves and spinal cord are often damaged, babies with myelomeningocele may experience disabilities such as a loss of feeling in the person’s legs or feet, challenges going to the bathroom, and paralysis. In-utero fetal surgery can be an option to help treat open spina bifida in appropriate cases.

Omphalocele: An omphalocele is a birth defect in which an infant’s intestines and possibly other organs stick outside the belly through the belly button. A thin, transparent sac covers the organs. Treatment for omphaloceles depends on the size of the herniation; small omphaloceles include only bowel, while large or giant omphaloceles contain the liver and other abdominal organs. The treatment of an omphalocele is all dependent on its size and the baby’s pulmonary status. Small omphaloceles can be treated surgically with a primary repair. Larger omphaloceles can be surgically treated using a staged repair or a “paint and wait” technique depending on respiratory status.

Sacrococcygeal Teratoma (SCT): A sacrococcygeal teratoma is the most common tumor found in newborns and develops in utero. These tumors grow from a baby's tailbone (also called the coccyx), and depending on their size and location can vary in severity:

• Type 1 – The tumor is attached to the tailbone and is outside the body
• Type II – The tumor is within a baby's pelvis or abdomen and is partially outside and partially inside the body.
• Type III – The tumor can be seen from the outside but is mostly within a baby's abdomen.
• Type IV - The tumor is completely inside the baby’s body, at tailbone level, and cannot be seen from the outside. This is the most serious tumor. 

Treatments for SCT depend in part of the severity of the tumor. In some cases, fetal surgery to remove the tumor may be recommended, particularly if the baby develops life threatening fetal hydrops.