Introduction to Fetal Abnormalities
For some families, the joy of a new baby brings unexpected challenges: About 3% of newborns in the U.S. — about 1 in 33 — have a birth defect each year. Although it may seem scary, the good news is that almost all fetal abnormalities can be detected on prenatal ultrasound. Identifying problems early can help parents and doctors prepare for postpartum medical care. And in some cases, doctors can intervene before the child is born. Thanks to advances in imaging, surgical tools and anesthesia, medical teams can now safely treat a growing number of complex conditions before birth.
The Importance of Ultrasound
Ultrasound imaging is critical for monitoring the baby’s development and the mother’s health throughout pregnancy. These powerful diagnostic tools are safe and use high-frequency sound waves rather than radiation to create detailed images and videos of the fetus. Routine ultrasound examinations also provide valuable information for women with high-risk pregnancies. Most patients have two or three scans during pregnancy – one in the first trimester around week 12, a second detailed anatomy scan between weeks 18 and 22, and another in the third trimester between weeks 28 and 32. If there are concerns, further action may be recommended.
What Ultrasound Can Detect
With an ultrasound scan, we can examine the baby’s brain, heart, chest, abdomen, and limbs. In most cases, potential problems can be identified with remarkable accuracy, helping families and care teams plan with confidence. Still, it’s essential to remember that no test is perfect. Some conditions are subtle or only develop later in pregnancy, others may not be fully understood until we perform additional imaging tests, such as a fetal MRI. Experience and careful interpretation are essential.
Unusual Findings Don’t Always Mean Bad News
It’s completely natural for parents to be anxious when something unusual occurs during an ultrasound scan. A common misconception is that every reported finding is dangerous. In reality, some results may be false positives due to limitations of technology or human error. Others represent harmless conditions that go away on their own. For example, many cysts visible on ultrasound are completely harmless. Of course, some findings require closer monitoring or treatment, and we are here to clearly guide families through each option.
Life-Saving Fetal Surgery
There is a common myth that if a serious malformation is discovered before birth, nothing can be done until delivery. That is absolutely not true. Advances in fetal medicine allow us to treat or even correct many serious medical conditions before a baby is born. When parents hear there is a problem, their first question is usually, “Is there anything we can do?” I love being able to say, “Yes, there is.” Consider twin-to-twin transfusion syndrome, a rare but potentially life-threatening condition in which identical twins sharing a placenta exchange blood unevenly. Today, the survival rate of both twins is around 90%, thanks to minimally invasive surgeries performed between 16 and 26 weeks of pregnancy.
Treatable Conditions
Another treatable condition is spina bifida, where sensitive nerves and the spinal cord are exposed through an opening in the fetus’s spine. Some fetuses experience devastating postnatal consequences, from difficulty walking to excessive fluid buildup in the brain. Through three small incisions in the mother’s uterus, we insert a tiny camera and instruments to carefully repair and close the defect and protect the nerves, which can dramatically improve long-term outcomes, including mobility and brain development. We can also intervene in certain heart defects and congenital diaphragmatic hernias, in which abdominal organs migrate into the chest and impair lung development.
Fetal Surgery: No Longer Experimental
Although the idea of prenatal surgery can sound intimidating, advances in technology and expertise have made these procedures remarkably safe and effective for many complex medical conditions. Although all surgery carries some risk, minimally invasive fetal techniques can significantly reduce complications for mother and child. Depending on the diagnosis, we may temporarily open the uterus or perform a less invasive fetoscopic procedure. Each case is managed by a multidisciplinary team that includes pediatric surgeons, maternal-fetal medicine specialists, anesthesiologists, and more who work together to provide the safest care possible.
Conclusion
Every pregnancy is unique, and the sooner families turn to a specialized fetal center, the more options we have, and the greater the chance of a healthy outcome. Before families lose hope, they should explore the full spectrum of care available. Fetal surgery is no longer experimental, and with the right expertise and technology, we can make a significant difference in the lives of babies and their families.
