Amniocentesis: A procedure to draw a sample of amniotic fluid which is then analyzed to detect chromosome abnormalities, structural defects and metabolic disorders.

Amniotic Fluid: The fluid in which the embryo or fetus is suspended within the womb (the embryonic sac inside the uterus).


Biopsy: The removal and examination of tissue, cells and fluids from the living body.

Bladder outlet obstruction (BOO): A blockage that prevents urine from flowing freely out of the bladder. Learn more about Bladder Outlet Obstruction.


Chorionic Villus Sampling (CVS): An alternative to amniocentesis to detect chromosomal abnormalities. The CVS can be performed earlier in fetal development than amniocentesis, and thereby allows earlier diagnosis.

Chromosomes: Thread-like linear strands of DNA and associated proteins.

Congenital Defect: A problem or condition in a human, existing at or dating from birth; acquired during development in the womb (uterus) and not through heredity.

CHAOS: Congenital high airway obstruction syndrome.

Colorectal Malformation: Congenital defect to the bowel involving the colon and/or rectum.

Congenital Cystic Adenomatoid Malformation/Congenital Pulmonary Airway Malformation (CCAM/CPAM): Benign tumor of the lung, usually one lobe.

Congenital diaphragmatic: Some fetuses have an incompletely formed diaphragm (the thin layer of muscle separating the chest cavity from the abdomen). As a result, intestines (and sometimes a portion of the liver) move into the chest through the hole in the diaphragm, and compress the lungs. In many cases, this pressure is so severe that the lungs cannot develop properly causing severe respiratory problems.

Cord blood: A blood sample from the fetus (to study chromosomes, for example) can be obtained by inserting a fine needle into the umbilical cord, under ultrasound guidance.


Diagnosis: The art or act of identifying a disease from its signs and symptoms.

Diagnostic Fetoscopy: A minimally-invasive examination of the fetus by a miniature video camera inserted through a small tube.

Diagnostic Testing: A variety of tests and procedures performed on a patient to effectively establish a diagnosis. Procedures include laboratory tests, x-rays, ultrasounds and other imaging studies.


ECHOs: Ultrasound technique for evaluating the fetal heart.

Electrocardiogram (ECG or EKG): A test that records maternal heart rhythm and is part of the pre-operative evaluation.

Ex Utero Intrapartum Treatment (EXIT): A surgical delivery under general anesthesia that utilizes placental support while a procedure is performed on the fetus/baby.

Ex Utero: Outside of the womb (uterus).

EXIT Ex-Utero-Intrapartum procedure: (EXIT) is a very specialized form of Cesarean section used when severe airway obstruction is expected at birth. The uterus is carefully opened to allow only the upper body of the fetus to be exposed. The fetus remains attached to umbilical cord and receives oxygen through the placenta, until the airway is secured. Only then is the umbilical cord clamped and is the baby fully delivered.


Fetal Echocardiography: Also known as ECHO. A high-resolution ultrasound test to detect heart abnormalities in the fetus.

Fetal Abnormality: A condition detected in the unborn human that is not the normal or average.

Fetal Medicine: A well-established and highly sophisticated area of medicine that covers the broad spectrum of conditions potentially treatable before a baby's birth. It includes fetal surgery (surgery performed on the fetus in the womb prior to birth). Fetal medicine has been practiced for more than 20 years. Also referred to as fetology and prenatal pediatrics.

Fetal Surgeon: A doctor who specializes in fetal surgery.

Fetal Surgery: Surgical treatment of the unborn human.

Fetal Therapy: Treatment of the unborn human; can be medical and/or surgical.

Fetus: A developing human, usually defined as three months after conception to birth. Follows the embryo or embryonic stage.


Gastroschisis: Gastroschisis is a birth defect in which an infant's intestines stick out of the body through a defect on one side of the umbilical cord.

Genetic Counseling: Medical education of affected individuals and the general public concerning inherited (genetic) disorders.

Genetics: A branch of biology that deals with the heredity and variation of organisms.

Geneticist: A doctor who specializes in genetic disorders.


Hydrocephalus: Enlarged heard due to enlarged ventricles with increased cerebrospinal fluid.

Hydrothorax: Fluid in the thoracic cavity.

Hydrops: Heart failure of the fetus. It often shows as an abnormal accumulation of fluid around the heart or the lungs, in the abdomen and under the skin.


In Utero: Relating to being in the womb.

Intestinal atresia: Blockage of the intestine during fetal development.


Laser: Utilized during a surgical procedure to coagulate vessels.


Magnetic Resonance Imaging (MRI): A noninvasive diagnostic technique that produces computerized images of internal body tissue and is based on nuclear magnetic resonance of atoms within the body induced by the application of radio waves.

Maternal-Fetal Medicine: The testing and management of high-risk pregnancies and fetal disorders; also called perinatology.

MSAFP - Maternal Serum Alpha-Fetoprotein (AFP): AFP is a protein that is abundantly present in the fetus. In certain fetal conditions, such as spina bifida and gastroschisis (a defect of the abdominal wall of the fetus), it leaks out into the amniotic fluid and can be detected in the blood of the mother. Elevated MSAFP can be an indication of any of these conditions. A low MSAFP may suggest that the fetus has Down syndrome.

Myelomeningocele: Also called spina bifida or Open Neural Tube defect: a condition whereby the spinal cord, which should be protected by the spine and covered by skin, is partially exposed through a hole in the back.


Neonatal: Relating to or affecting the newborn, especially the human infant during the first month after birth.

Neonatal Intensive Care Unit (NICU): An area within a hospital dedicated to the care and treatment of pre-term and critically ill babies.

Neonate: A child less than a month old.

Neonatologist: A doctor who specializes in the care of premature infants.

Neonatology: A branch of medicine concerned with the care, development and diseases of newborn infants.

Nurse Practitioner: A registered nurse with advanced training that is qualified to perform some of the duties formerly assumed only by a physician.

Nutritionist: A specialist in the study of nutrition.


Obstetrician: A doctor who specializes in obstetrics.

Obstetrics: A branch of medicine that deals with birth.

Oligohydramnios: A condition in which there is too little (less than the normal range) amniotic fluid.

Omphalocele: An anterior wall defect through the umbilicus in which exteriorized abdominal contents are covered by a membrane. A giant omphalocele contains the liver.

Open neural tube defect: See myelomeningocele.


Pediatrician: A doctor who specializes in pediatrics.

Pediatrics: A branch of medicine dealing with the development, care and diseases of children.

Perinatal: Concerned with or being in the period around the time of birth.

Perinatologist: A doctor who specializes in perinatology; typically has 2 to 3 years more training than an obstetrician / gynecologist.

Perinatology: A branch of medicine concerned with care of high-risk pregnancies. Also called maternal-fetal medicine.

Polyhydramnios: Too much (larger amount than normal) amniotic fluid.

Postnatal: Occurring, existing or performed after birth.

Prenatal: Occurring, existing or performed before birth.

Prenatal Pediatrics: A well-established and highly sophisticated area of medicine that covers the broad spectrum of conditions potentially treatable before a baby's birth. It includes fetal surgery (surgery performed on the fetus in the womb prior to birth). Prenatal Pediatrics has been practiced for more than 20 years. Also referred to as fetology and fetal medicine.

Pulmonary hypertension: Condition in which blood vessels in the lungs are constricted, causing decreased oxygen and right heart failure.

Pulmonary hypoplasia: Incomplete development of lung tissue due to space occupying lesion during fetal development (i.e., CCAM/CPAM, CDH).


Quadruple test: A screening test for Down syndrome that uses a combination of MSAFP and three other markers: Estriol, hCG and inhibin.


Selective Fetal Laser Photocoagulation (SFLP): A surgical procedure utilized with twin-twin transfusion syndrome.

Shunt (fetal): A tube-like device placed into a fetus cavity (i.e., thorax, bladder), under ultrasound guidance, to allow drainage of the fluid into the amniotic cavity.

Sonogram: An image produced by ultrasound.

Sonographer: A person trained in the use of ultrasound.

Spina bifida: See myelomeningocele.


win-to-twin transfusion syndrome: A condition seen in identical twins, whereby one fetus (the donor) continuously "gives" blood to the other twin (the recipient), through connecting blood vessels on the placenta.


Uterus: An organ in females for containing and nourishing the young during development previous to birth; also called the womb.

Ultrasound: A medical imaging test that measures how different tissues and organs absorb and/or reflect sound waves. A computer analyzes the strength of these signals to create a two-dimensional image of the internal organs.