Chromosomal Abnormalities Vocabulary Flashcards
A surgical procedure in which amniotic fluid is extracted for genetic testing or removed when there is an accumulation of an excessive amount of fluid around the fetus
Amniocentesis
Inflammation of the amniotic sac secondary to infection
Amnionitis
A condition of having an abnormal number of chromosomes
Aneuploidy
A structural feature that differs from the norm
Anomaly
Fingerlike projections of gestational tissue that attach to the decidualized endometrium and allow transfer of nutrients from the mother to the fetus
Chorionic Villi
Prenatal test used that obtains placental tissue for chromosomal analysis
Chorionic Villi Sampling
Cysts located within the lateral ventricles of the brain, specifically in the choriod plexus
Choriod Plexus Cysts
An error in either the number or structure of chromosomes
Chromosomal Abnormality
The cellular structures that contain genes
Chromosomes
The bending of the fifth finger toward the fourth finger
Clinodactyly
Prenatal test that obtains fetal blood for chromosomal analysis; also referred to as percutaneous umbilical cord sampling
Cordocentesis
Fusion of the orbits
Cyclopia
An analysis of fetal chromosomes; reveals the morphology and number of chromosomes
Fetal Karyotyping
The increased volume of cerebrospinal fluid within the ventricular system
Hydrocephalus
Incomplete or arrested development of a structure
Hypoplastic
A structural abnormality that results from an abnormal development
Malformation
Small eye(s)
Microphthalmia
Also referred to as gestational trophoblastic disease; associated with an abnormal proliferation of the trophoblastic cells, enlargement of the placenta, and elevated levels of human chorionic gonadotropin
Molar Pregnancy
The form and structure of an organism
Morphology
Fetal hydrops caused by congenital fetal anomalies and infections
Nonimmune Hydrops
The posterior part or name of the neck
Nuchal
A mass found in the neck that is the result of an abnormal accumulation of lymphatic fluid within the soft tissue
Nuchal Cystic Hygroma
A collection of solid tissue at the back of the fetal neck
Nuchal Fold
The anechoic space along the posterior aspect of the fetal neck
Nuchal Translucency
Imperfect or abnormal development of the ovaries
Ovarian Dysgenesis
A protein that is produced by the placenta and that can be monitored during pregnancy
Pregnancy-Associated Plasma Protein A
Abnormal curved shape of the sole of the feet
Rockerbottom Feet
A large space between the first and second toes
Sandal Gap
A birth defect in which there is incomplete closure of the spine
Spina Bifida
The loss of a pregnancy before 20 gestational weeks
Spontaneous Abortion
A buildup of fluid under the skin
Subcutaneous Edema
Webbed fingers or toes
Syndactyly
A group of clinically observable findings that exist together and allow for classification
Syndrome
A cell having three copies of an individual chromosome
Trisomy
Chromosomal aberration in which there is a third chromosome 13; also referred to as Patau Syndrome; often associated with holoprosencephaly
Trisomy 13
Chromosomal aberration in which there is a third chromosome 18, also referred to as Edwards Syndrome
Trisomy 18
Chromosomal aberration in which there is a third chromosome 21; also referred to as Down Syndrome
Trisomy 21
The cells that surround the gestation that produce human chorionic gonadotropin
Trophoblastic Cells
A chromosomal aberration where one sex chromosome is absent; may also be referred to as monosomy X
Turner syndrome
A cell having the normal pair of each chromosome (46)
Diploid
A cell having only one member of each pair of chromosomes
Haploid
A cell having only one of an individual chromosome
Monosomy
A situation in which some cells have an abnormal number of chromosomes whereas others do not
Mosiac
A cell having three times the normal haploid number (69(
Triploid
