Amniotic band syndrome is a broad term for a group of abnormalities that occur when bands of amnion (the inner lining of the amniotic sack or "bag of water") peel away from the sack and attach or wrap around parts of the unborn baby's body, disrupting normal development.
Anencephaly is a lethal (results in death) birth defect in which the baby is missing a large portion of the brain as well as skull and scalp.
A birth defect, or anomaly, is a medical term meaning irregular or different from normal. Anomalies occur more often in identical twins than in other pregnancies.
Bladder outlet obstruction is a blockage of urine flow anywhere along the urethra. The urethra is the tube that drains urine from the bladder and out of the body.
Cleft lip and cleft palate are birth defects that occur when the lip or mouth do not form properly during pregnancy. This type of birth defect is also called a facial anomaly. A child can have only a cleft lip, only a cleft palate, or both together.
Clubfoot, also known as congenital talipes equinovarus , is a fairly common birth defect. The most severe form of clubfoot is characterized by the foot or feet being turned inward and pointed downward. When both feet are clubbed, the toes turn toward each other.
Congenital heart disease is heart disease that develops before birth. About 1 percent of all infants who are born alive have a congenital heart defect. This means that in the United States, approximately 25,000 to 30,000 babies are born each year with some type of congenital heart disease.
Congenital pulmonary airway malformation (CPAM) is a birth defect that causes cystic masses of tissue to form in the baby’s lungs. A cystic mass is a noncancerous tumor that is filled with fluid or other material. In CPAM, the cystic mass cannot function as normal lung tissue. Males have this condition slightly more often than females.
Congenital diaphragmatic hernia is an opening in the diaphragm (the muscle separating the chest from the abdomen). This hole allows the organs and tissue that would normally be in the abdominal cavity to push up into the chest cavity. As a result, the baby’s lungs may be underdeveloped because they lack the space to grow. CDH can affect both lungs even though the defect is only on one side.
A syndrome is a disease or disorder that has more than one identifying feature or symptom that occurs over and over in different patients. The identifying features of DiGeorge syndrome (also known as velocardiofacial syndrome) are a few specific heart malformations, immune deficiencies and endocrine disorders.
An encephalocele is a rare disorder in which the bones of the skull do not close completely. This creates a gap through which cerebral spinal fluid, brain tissue and the meninges (three membranes that protect spine and brain tissue) can protrude into a sac-like formation.
Gastroschisis is an opening in the abdominal wall through which the internal organs push outside of a baby's body. During fetal development, the abdominal wall fails to close properly, leaving an opening. The opening is usually to the right of the umbilical cord.
With hydrocephalus, cerebral spinal fluid backs up in cavities of the brain called ventricles, causing them to expand and push on the surrounding brain. This increased size in the ventricles may be referred to as ventriculomegaly. Hydrocephalus occurs when the two lateral ventricles grow to be greater than 1.5 cm in width. The ventricles can fill to such an extent that the fetus’ head becomes enlarged.
Hydrops fetaliss is not a disease in and of itself, but rather a complication of other conditions. It is an abnormal collection of fluid in at least two areas of the unborn baby’s body.
Micrognathia is a smaller than normal jaw, often the lower jaw or chin. This may be part of a syndrome. A syndrome is a pattern of multiple anomalies or birth defects with a single cause. The birth defects seen in a syndrome involve more than one body system, meaning, for example, there may be a problem with the jaw, heart and the kidneys.
Pierre Robin (Pee-air; Ro-ban) sequence also is associated with micrognathia. Pierre Robin sequence is a birth defect that involves the jaw or chin being small and recessed.
Multicystic dysplastic kidney is a birth defect in which one or both kidneys have cysts that impair kidney function. Other names used to describe this condition can include multicystic kidney and multicystic renal dysplasia. The ultrasound pictures of a kidney with this condition will show a large, echogenic (bright white) kidney with multiple cysts (fluid filled masses) of various sizes. A kidney affected by this birth defect has little or no function.
Omphalocele occurs when some of the internal organs that are normally located in a baby’s abdomen are pushed out into the base of the umbilical cord. The abdominal cavity itself may be small and underdeveloped because the organs normally contained in it developed outside of it. The organs pushed out into the umbilical cord may be covered by a membranous sac, or the sac may rupture before, during or after delivery.
Hydronephrosis occurs when the pelvis becomes enlarged because urine is collecting in the area of the kidneys. Doctors can diagnose hydronephrosis when the enlargement exceeds 10 millimeters at 20 to 24 weeks of pregnancy.
When the pelvis is stretched or enlarged, but not enough for doctors to diagnose hydronephrosis, it is considered pyelectasis. Pyelectasis also is known as renal pelvic dilatation. The amount of stretching of the renal pelvis with pyelectasis is usually defined as greater than 4 mm but less than 10 mm in a fetus less than 24 weeks of gestation. Enlargement of 4 to 10 mm also may be called mild hydronephrosis.
A rhabdomyoma is a tumor on or in the heart. This type of tumor is not cancerous and will not spread. Rhabdomyoma is the most common form of heart tumor. These tumors can vary greatly in size and number. Rhabdomyomas are usually multiple in number and can affect either side of the heart. In 30 percent of cases, these tumors occur in both sides of the heart.
Sacrococcygeal teratoma is the most common tumor found in newborns. They are comprised of chaotically arranged tissues of all types (fat, bone, nerves, etc.) that are found in an area that they are not normally seen.
Spina Bifida is a general term used to describe defects in the closure of the neural tube. Spina bifida also may be referred to as a neural tube defect. The neural tube is the tissue of an embryo that become the brain, spinal cord and the bones surrounding each. Very soon after conception, during the third or fourth week, the neural tube has developed and the spinal column (bones) closes. With spina bifida, the neural tube does not close completely, which leaves a gap through which organs that should be inside the body are left outside the body.
The trachea is the windpipe and goes to the lungs. The esophagus is the "food pipe" and goes to the stomach. They run side-by-side through the neck and upper chest. Normally the trachea and the esophagus are not connected in any way. Very early in the development of a fetus a single tube will divide to form the esophagus and the trachea. For an unknown reason, sometimes the wall does not form properly and a tracheal esophageal fistula or atresia may be the result. A fistula is an abnormal connection and atresia means a blockage.
Twin-to-twin transfusion syndrome (TTTS) is an imbalance in the blood flow between identical twins who share one placenta but have separate amniotic sacs (monochorionic-diamniotic twins). When twins share a placenta, the blood vessels within it connect the twins' blood supply, allowing blood to flow between them. If the blood flow becomes unequal, the twins will grow at different rates. The smaller (donor) twin will pump blood to the larger (recipient) twin. This is called twin-to-twin transfusion syndrome.
Twin reversed arterial perfusion (TRAP) sequence is a rare condition that occurs in pregnancies of identical twins that share one placenta.In TRAP sequence, one twin is developmentally normal (pump twin) while the other develops without a functioning heart (acardiac twin) and many other structures (head, limbs, etc.) that would allow this twin to develop into a normal fetus and newborn. The two are joined by a large blood vessel between their umbilical cords that passes through the placenta. The acardiac twin receives all of its blood from the pump twin. This causes the pump twin's heart to work harder than it typically would in a normal pregnancy.
The Fetal Concerns Center also helps families learn more about problems mothers can have during pregnancy. We help make care arrangements for both mom and baby.
Some of the maternal diagnoses we work with are:
- Cytomegalovirus (CMV)
- Herpes (HSV)
- Gestational diabetes
- Preterm labor