Glossary of terms

aortic stenosis

the narrowing of the opening of the aortic valve. Fetal aortic stenosis can be diagnosed by an echocardiogram before birth so that special preparations can be made in advance for optimal care at delivery.

arrhythmia (also called dysrhythmia)

a fast, slow or irregular heartbeat. Fetal arrhythmias are diagnosed before birth by ultrasound exams.

atrial septal defect (ASD)

a hole in the wall between the right and left atria (the two upper chambers of the heart). Fetal ASDs are found on prenatal ultrasound exam and confirmed by echocardiogram.

atrioventricular canal defect

major abnormality in the formation of the heart structure. Fetal A/V canal defects are diagnosed before birth and confirmed by echocardiogram. This allows for special preparations at delivery for optimal care.

birth defect

a health problem present at birth. Fetal defects can often be diagnosed before birth by ultrasound, genetic or other tests of the pregnant woman.

See also In search of tomorrow’s cures

bladder exstrophy

a severe deformity of the bladder that requires major surgical reconstruction. Fetal bladder exstrophy can be diagnosed by ultrasound before birth so that special preparations can be made at delivery for optimal care.

brain cysts and malformations

abnormal formation of the brain and the fluid-filled chambers inside of it. Fetal brain cysts and malformations can be diagnosed before birth by ultrasound and and MRI of the pregnant mother.

cardiac (heart) arrhythmia

abnormal rhythm of the heart beat. Fetal cardiac arrhythmias are diagnosed before birth by an ultrasound exam of the pregnant mother.

Chiari malformations

deformity of the brain often associated with the bony opening at the base of the skull through which the spinal cord passes. Fetal Chiari malformations are diagnosed before birth by ultrasound and MRI exams of the pregnant mother.

chickenpox (varicella)

a highly infectious viral disease, usually associated with childhood. By adulthood, more than 95 percent of Americans have had chickenpox. The disease is caused by the varicella-zoster virus (VZV). Transmission occurs from person-to-person by direct contact or through the air. Fetal chickenpox may occur when a pregnant woman develops the illness during pregnancy; birth defects may occur.

cleft lip

a birth abnormality in which the tissues forming the lip do not completely fuse. The degree of the cleft lip can vary greatly, from mild (notching of the lip) to severe (large opening from the lip up through the nose). Cleft lip may also be seen in conjunction with cleft palate. Fetal cleft lip can be diagnosed by ultrasound before birth.

cleft palate

a birth abnormality in which the roof of the mouth does not completely fuse, leaving an opening that can extend into the nasal cavity. The cleft may involve either side of the palate. It can extend from the front of the mouth (hard palate) to the throat (soft palate). Cleft palate may also be seen in conjunction with cleft lip. Fetal cleft lip can sometimes be diagnosed before birth by ultrasound.

clubfoot (also called talipes equinovarus)

a foot deformity in which the foot is twisted and bent. Detected at birth, it affects the bones, muscles, tendons, and blood vessels and can affect one or both feet. The foot is usually short and broad in appearance and the heel points downward while the front half of the foot, or forefoot, turns inward. The heel cord (Achilles tendon) is tight. The heel can appear narrow and the muscles in the calf are smaller compared to a normal lower leg. Fetal clubfoot can be diagnosed before birth by ultrasound examination.

coarctation of the aorta

a congenital heart abnormality in which narrowing occurs in the largest blood vessel leading away from the heart. Fetal coarctation of the aorta can be suggested before birth by ultrasound and confirmed by echocardiogram.

congenital adrenal hyperplasia

underproduction of cortisone and overproduction of male-acting hormones by the adrenal gland. Fetal congenital adrenal hyperplasia is diagnosed before birth by genetic testing.

congenital anomaly

a health problem or abnormality present at birth (not necessarily genetic). Fetal congenital anomalies can sometimes be diagnosed before birth by sonogram, MRI, genetic or blood tests.

congenital hand problems

abnormalities such as extra fingers and toes, webbed fingers, club hand, absent thumbs. Fetal diagnosis of hand problems by ultrasound is often difficult or impossible due to infants' near-constant movement. Very early sonograms (12 weeks) often yield the most reliable images.

congenital heart disease

a heart problem present at birth, caused by improper development of the heart during fetal development. Fetal diagnosis of heart disease can be made before birth by ultrasound examination.

congenital varicella syndrome

a combination of birth defects present in a newborn caused by a woman contracting chickenpox during the first 20 weeks of pregnancy. The defects may include skin scars, finger or limb defects, eye or brain anomalies and mental retardation.

cranial deformities

abnormalities of the skull. Fetal cranial abnormalities are diagnosed by unltrasound and magnetic resonance imaging (MRI) before birth.

craniosynostosis

premature closing and bone formation in the normally open areas of the skull. Fetal craniosynostosis is diagnosed by ultrasound and magnetic resonance imaging (MRI) before birth.

cystic adenomatoid mass of the chest (C-CAM)

noncancerous tumors of the developing lung. Fetal C-CAM is diagnosed by ultrasound and magnetic resonance imaging (MRI) before birth so that special preparations can be made for optimum care at delivery.

cystic fibrosis

a genetic condition involving many of the body's systems and characterized by thick secretions in the lungs and digestive problems. Fetal cystic fibrosis is diagnosed before birth by genetic testing.

cytomegalovirus (CMV)

one group of herpes viruses that infect humans and can cause a variety of clinical symptoms including deafness or hearing impairment; infection with the virus may occur either before or after birth. Fetal CMV is the most common intrauterine infections. Diagnosis requires amniocentesis or other invasive testing.

Dandy Walker malformation

narrowing of a fluid passage in the developing brain causing water accumulation and hydrocephaly. The fetal malformation is diagnosed by ultrasound and magnetic resonance imaging (MRI) techniques.

dextrocardia

a heart that is "flipped over" so that the structures that are normally on the right side of the chest are on the left, and vice versa. The arteries and veins are connected correctly; the fetal condition occurs due to an abnormality in heart development during pregnancy and is diagnosed by ultrasound.

diaphragmatic hernia

the intestines and/or liver extend into the lung and heart cavity through a hole in the diaphragm. The fetal condition is diagnosed with ultrasound and magnetic resonance imaging (MRI) before birth so that special preparations can be made for optimum care at delivery.

double outlet right ventricle

a congenital (present at birth) heart defect in which both the aorta and the pulmonary artery are connected to the right ventricle. This fetal condition is diagnosed by ultrasound so that special preparations can be made for optimum care at delivery.

Down syndrome (also called trisomy 21)

a combination of birth defects caused by the presence of an extra #21 chromosome in each cell of the body. Fetal diagnosis can be made by invasive genetic testing or by a combination of ultrasound and blood tests.

echocardiogram (echo)

a diagnostic method in which pulses of high-frequency sound, called ultrasound, are transmitted into the body; the echoes returning from the heart and other structures are made into an electronic picture. These pictures are then studied for diagnostic purposes.

ectodermal dysplasia

genetic condition with abnormalities of the face shape, eyes, and skin

epidermolysis bullosa

genetic condition with blistering, fragile skin

See also Infectious diseases

single ventricle syndrome

failure of one of the heart's two major pumping chambers to form. Fetal single ventricle syndrome is diagnosed by ultrasound and echocardiogram so that special preparations can be made in advance for optimal care at delivery.

skeletal dysplasias

result from mutations that affect the growth and development of cartilage and bone. The bones may not only be short, but they may be abnormally shaped, as well. Fetal skeletal dysplasias are diagnosed by ultrasound and magnetic resonance imaging (MRI) before birth and x-rays after birth.

spina bifida (also called meningomyelocele or neural tube defect)

Present at birth, the condition affects the development of the back bones, spinal cord, surrounding nerves, and the fluid-filled sac that surrounds the spinal cord. This neurological condition can cause a portion of the spinal cord and the surrounding structures to develop outside, instead of inside, the body. The sac-like lesion can occur anywhere along the spine. Fetal spina bifida is diagnosed by ultrasound and magnetic resonance imaging (MRI) so that special preparations can be made for optimal care at delivery.

spine or vertebral anomalies

birth defects of the developing spine involving the bones or nerves or both. Fetal spine or vertebral anomalies are diagnosed by ultrasound and magnetic resonance imaging (MRI) so that special preparations can be made for optimal care at delivery.

teratomas

tumors that contain areas that resemble more than one tissue type and can affect many areas of the body. Fetal teratomas are suggested by finding on ultrasound and magnetic resonance imaging (MRI), but the final diagnosis is made after birth.

tetralogy of Fallot

The group of heart defects present at birth includes a ventricular septal defect, obstruction to blood flow out of the right ventricle to the lungs, and an aorta that is shifted to the right. Enlargement of the right ventricle occurs as the right ventricle copes with obstruction of blood flow. Fetal tetralogy of Fallot is diagnosed by ultrasound before birth so that special preparations can be made for optimal care at delivery.

tracheal abnormalities

abnormalities in the trachea, the body's major "windpipe." Fetal tracheal abnormalities are diagnosed by ultrasound and magnetic resonance imaging so that special preparations can be made for optimal care at delivery.

tracheoesophageal fistula

a birth defect caused by improper development of the baby's trachea (windpipe) and esophagus during pregnancy. The esophagus does not connect to the stomach, and there is also an abnormal connection between the esophagus and the trachea. Food cannot pass through to the stomach, and may pass into the trachea and then into the lungs, causing breathing problems. Fetal tracheoesophageal fistula may be suggested by ultrasound or magnetic resonance imaging (MRI) but it is difficult to diagnose before birth.

transposition of the great arteries (or vessels)

Present at birth, this heart defect involves abnormal development of the great arteries (the aorta and the pulmonary artery) during the time the fetal heart is forming. The aorta ends up being connected to the right ventricle, and the pulmonary artery is connected to the left ventricle, which is the opposite of a normal connection. The condition is diagnosed by ultrasound before birth so that special preparations can be made for optimal care at delivery.

ureterocele or ectopic ureter

abnormal formations of the urine-carrying tubes within the body that can prevent normal urine flow or cause infections. Fetal ureterocele is suggested by ultrasound findings of urine accumulation above the level of obstruction that causes ballooning of the ureters and/or kidney.

ureteropelvic junction obstruction (also fetal reflux; pelviectasis; pyelectasis)

blockage of urine flow at the place where the urine tube drains the kidney. Fetal uretero-pelvic junction obstruction is suggested by ultrasound findings of urine accumulation above the obstruction that causes the kidney to balloon in size.

Institute for Fetal Health

Glossary of terms

Care & treatment