Penny Ultrasound Chapter 30 Chromosomal Abnormalities terms, notes, and questions
the fetal loss rate following an amniocentesis is around ...%
0.5
the fetal loss rate for chorionic villus sampling is ...%
0.8%
amniocentesis is used for genetic purposes at around ... weeks
15
an amniocentesis calls for a ... to ... gauge needle
20,22
the normal cell has ... chromosomes
46
A cell having the normal pair of each chromosome. There are 46 chromosomes in this situation. Normal cells are diploid, with the exception of the gametes.
Diploid
A situation in which some cells have an abnormal number of chromosomes while others do not
Mosaic
A cell having three times the normal haploid number. There are 69 chromosomes
Triploid
A cell having three copies of an individual chromosome
Trisomy
a chromosomal aberration where one sex chromosome is absent; may also be referred to as monosomy X
Turner syndrome
amniocentesis is performed trans- abdominally/vaginally
abdominally
a maternal age older than 35 years
advanced maternal age
the congenital absence of corpus callosum which may be partial or complete
agenesis of the corpus callosum
a protein produced by the fetal yolk sac, fetal gastrointestinal tract, and the fetal liver; may also be produced by some malignant tumors
alpha-fetoprotein
what are the three laboratory values that are tested in a triple screen?
alpha-fetoprotein, estriol, human chorionic gonadotropin
inflammation of the amniotic sac secondary to infection
amnionitis
round skull shape
brachycephaly
fingerlike projections of gestational tissue that attach to the decidualized endometrium and allow transfer of nutrients from the mother to the fetus
chorionic villi
... is typically the earliest procedure that can be performed during pregnancy for fetal karyotyping
chorionic villi sampling
CVS stands for
chorionic villi sampling
prenatal test used that obtains placental tissue for chromosomal analysis
chorionic villi sampling
there are three main procedures used to obtain material for fetal karyotyping: ..., ..., ...
chorionic villi sampling, amniocentesis, cordocentesis
cysts located within the lateral ventricles of the brain, specifically in the choroid plexus
choroid plexus cysts
the abnormal development of the soft and/or hard palate of the mouth where there is a division in the palate
cleft palate
the narrowing of the aortic arch
coarctation of the aorta
prenatal test that obtains fetal blood for chromosomal analysis
cordocentesis
fusion of the orbits
cyclopia
the herniation of the abdominal contents into the chest cavity through a defect in the diaphragm
diaphragmatic hernia
congenital maldevelopment or absence of duodenum
duodenal atresia
congenital absence of part of the esophagus
esophageal atresia
the features or appearance of the face
facies
an analysis of the fetal chromosomes
fetal karyotyping
a group of brain abnormalities consisting of varying degrees of fusion of the lateral ventricles, absence of the midline structures, and associated facial anomalies
holoprosencephaly
hormone produced by the trophoblastic cells of the early placenta; may also be used as a tumor marker in nongravid patients and males
human chorionic gonadotropin
the most common cause of abnormal serum screening tests is...
incorrect dating of the pregnancy
a fetus that is below the 10th percentile for gestational age (small for gestational age) and whose growth is impeded for some reason
intrauterine growth restriction
enlargement of the tongue
macroglossia
a structural abnormality that results from an abnormal development
malformation
what are three samples that can be taken for karyotyping?
maternal blood, amniotic fluid, placental tissue
small head
microcephaly
small eye or eyes
microphthalmia
imperfect or abnormal development of the ovaries
ovarian dysgenesis
failure of the kidney to develop; may be unilateral or bilateral
renal agenesis
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
functional ovarian cysts that are found in the presence of elevated levels of human chorionic gonadotropin; also referred to as a theca luteal cysts
theca lutein cysts
chorionic villi sampling can be performed ... or ... between ... and ... gestational weeks
transabdominally, transvaginally, 10, 12
a maternal blood test that typically includes an analysis of human chorionic gonadotropin, alpha-fetoprotein, and estriol
triple screen
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
during a chorionic villi sampling, ... are taken
trophoblastic cells
the cells that surround the gestation that produce human chorionic gonadotropin
trophoblastic cells
the most common side effects of amniocentesis
uterine contractions and cramping
AFP is produced by the
yolk sac and fetal liver
the normal cell has ... pairs of chromosomes
23
a cell that has an abnormal number of whole chromosomes. There may be too many or too few
Aneuploid
congenital brain malformation in which there is enlargement of the cisterna magna, agenesis of the cerebellar vermis, and dilation of the fourth ventricle
Dandy-Walker malformation
A cell having only one member of each pair of chromosomes
Haploid
A cell having only one of an individual chromosome
Monosomy
chromosomal aberration in which there is a third chromosome 13; also referred to as trisomy 13
Patau syndrome
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
a condition of having an abnormal number of chromosomes
aneuploidy
excessive fluid in the peritoneal cavity
ascites
the cellular structures that contain genes
chromosomes
an abnormal division in the lip
cleft lip
the bending of the fifth finger toward the fourth finger
clinodactyly
a malformation of the bones of the foot in which the foot is most often inverted and rotated medially and the metatarsals lie in the same plane as the tibia and fibula
clubfoot
... factors and ... age have been suspected to increase the likelihood of chromosomal abnormalities
environmental, maternal
an estrogenic hormone produced by the placenta
estriol
Dandy-Walker malformation is a congenital brain malformation that is thought to be caused by a developmental deviation in the roof of the ... ventricle
fourth
the attachment of the lower poles of the kidneys by a band of renal tissue that crosses the midline of the abdomen
horseshoe kidneys
dilation of the cerebral ventricles resulting from excessive accumulation of cerebrospinal fluid
hydrocephalus
the dilation of the renal collecting system resulting from the obstruction of the flow of urine from the kidney(s) to the bladder; also referred to as pelvocaliectasis
hydronephrosis
incomplete or arrested development of a structure
hypoplastic
incomplete development of the left ventricle resulting in a small or absent left ventricle
hypoplastic left heart
reduced distance between the orbits
hypotelorism
a small mandible and recessed chin
micrognathia
also referred to as gestational trophoblastic disease; is associated with an abnormal proliferation of the trophoblastic cells, enlargement of the placenta, and elevated levels of human chorionic gonadotropin
molar pregnancy
fetal hydrops caused by congenital fetal anomalies and infections
nonimmune hydrops
the posterior part or nape of the neck
nuchal
a mass, typically found in the neck region, 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
an anterior abdominal wall defect where there is herniation of the fetal bower and other abdominal organ into the base of the umbilical cord
omphalocele
fluid accumulation around the heart in the pericardial cavity
pericardial effusion
PAPP-A and inhibin A are produced by the
placenta
estriol and hCG are produced by the
placenta
the abnormal accumulation of fluid in the pleural space
pleural effusion
having more than the normal number of fingres or toes
polydactyly
a protein that is produced by the placenta and that can be monitored during pregnancy
pregnancy-associated plasma protein A
two supplementary proteins that are monitored during pregnancy
pregnancy-associated plasma protein A (PAPP-A) and inhibin A
enlargement of the renal pelvis; also referred to as pelviectasis
pyelectasis
abnormal curved shape of the sole of the feet
rockerbottom feet
a large space between the first and second toe
sandal gap
a group of clinically observable findings that exist together and allow for classification
syndrome
buildup of cerebrospinal fluid that results in an enlargement of one or more of the ventricles within the brain
ventriculomegaly