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