Caring for Babies with Fetal Anomalies

A fetal anomaly is an unexpected condition in a baby that develops during pregnancy, sometimes referred to as a birth defect or congenital disorder. There are many different types of fetal anomalies, and they can occur during any stage of pregnancy. Some fetal anomalies have a genetic cause; others do not. And for many, the cause is unknown.

Medical advances, such as ultrasound and genetic testing, have allowed more and more fetal anomalies to be detected before birth. There are many methods for prenatal diagnosis, and some have significant limitations. For example, non-invasive prenatal screening (NIPS; also known as “NIPT”) is a common method used early in pregnancy to genetically screen babies for the presence or absence of a fetal anomaly before 10 weeks. NIPS analyzes the baby’s circulating DNA in the mother’s blood; however, the screen is not a definitive test and can only determine a baby’s risk of having a fetal anomaly. Plus, there is a significant chance the screening result is wrong. For this reason, a positive DNA NIPS result must be followed with more accurate testing to confirm the positive result. A DNA blood test performed after the baby is born can confirm a fetal anomaly. Confirming the positive result after birth avoids invasive prenatal testing during pregnancy, such an amniocentesis and chorionic villus sampling, which carry a risk for pregnancy loss.

If a baby is prenatally diagnosed with a fetal anomaly, the mother and baby will likely be monitored closely during pregnancy by a maternal-fetal medicine (MFM) team. However, not all MFM teams see an intrinsic value in all lives. Thus, finding support early in this journey through organizations like “Be Not Afraid”¹ can help the family navigate treatment options.

The journey of each baby with a fetal anomaly is unique and unlike any other, so each family deserves special attention. Some babies with fetal anomalies may have few complications, requiring little support.  Other babies will have more extensive complications and medical needs; but all are deserving of excellent medical care. For babies with spina bifida, congenital heart defects, and other specific conditions, in-utero surgery may be a treatment option that is done before birth. Babies with other serious congenital complications such as genetic disorders, rare syndromes, or anatomic abnormalities such as anencephaly where the baby’s brain does not form properly, may need considerable postnatal support. But frequently, it is impossible to know exactly what support or the extent of the support a baby will need until after birth.

Since there is variability in diagnoses and outcomes, families that receive a prenatal diagnosis should consider all potential life paths for their baby. A fetal anomaly may be called “life limiting”, but this term can mean very different things for different babies. For example, a baby diagnosed with trisomy 13 or 18 might live 1, 5, 10 or 30 years, depending on the type and severity of the condition. Surviving children may or may not have profound disabilities, and many babies live longer when basic medical intervention is offered immediately after birth.² Among children who undergo surgical interventions, 1-year survival can be high, and some children even survive for 10 years.³ Babies with trisomy 13 and 18 who have a congenital heart condition live even longer when they receive necessary medical care to surgically repair the heart defect. One study found that these patients on a corrective treatment pathway survive an average of 32 years, ranging from 11-53 years of age!⁴

In the end, no matter what the diagnosis is or whether a fetal anomaly exists or not, every child has undeniable purpose and meaning regardless of abilities or how long he or she lives. The intrinsic worth of a person is not governed by their capacity to do certain things. Receiving a prenatal diagnosis can be very traumatizing, so every family and their baby should be properly informed, nurtured, offered excellent medical care, and treated with love and dignity during every step of the way on this prenatal diagnosis journey.