In rare circumstances, things can go wrong with a baby’s growth or development during pregnancy. The baby may be born with developmental problems in one or more of his organ systems. These are called congenital abnormalities, otherwise known as birth defects. In the USA, birth defects affect about 3% of all births. Some babies have a chromosomal abnormality, and some are born with a genetically determined disorder such as cystic fibrosis, phenylketonuria, hypothyroidism, or sickle cell anemia.
Congenital abnormalities and genetically determined disorders may present challenges for you and for your child as she gets older, especially if the condition is left untreated. As a parent, you have probably dreamed of having a “perfect” baby. You may feel disappointed when you realize that your baby has a birth defect, a chromosomal abnormality, or a genetically determined disorder. You may experience many emotions, including shock, denial, sadness, and anger, before you can finally accept what is happening. You may not realize that surgery and other forms of medical therapy can be very helpful in the treatment of some of these conditions.
This section describes the types of specialty care and health care providers that are available for babies with serious physical problems. It also addresses the management techniques that are used to treat specific congenital abnormalities and genetically determined disorders. Finally, this section describes the psychological challenges that parents face when their child has a serious health problem, palliative care at the end of life, and grieving for a child who has passed away.