Prequel Terms

Question 1

Advanced Maternal Age

Answer 1

Maternal age older than 35 years

Question 2

Amniocentesis

Answer 2

a procedure in which amniotic fluid is removed from the uterus for testing or treatment.

Question 3

Anatomy Scan

Answer 3

a pregnancy ultrasound performed between 18–22 weeks of gestational age. The purpose of the ultrasound is to evaluate the development of the baby, detect any growth abnormalities early, and to assess for the presence of any congenital malformations.

Question 4

Aneuploidy

Answer 4

the presence of an abnormal number of chromosomes in a cell, for example a human cell having 45 or 47 chromosomes instead of the usual 46.

Question 5

Alpha-fetoprotein (AFP)

Answer 5

a protein produced in the liver of a developing fetus. During a baby’s development, some ___ passes through the placenta and into the mother’s blood. An ___ test measures the level of ___ in pregnant women during the second trimester of ​pregnancy​. Too much or too little ___ in a mother’s blood may be sign of a ​birth defect​ or other condition, such as an open neural tube defect.

Question 6

During prenatal cell-free DNA

Answer 6

DNA​ from the mother and fetus is extracted from a maternal blood sample and screened for the increased chance for specific chromosome problems, such as Down syndrome, trisomy 13 and trisomy 18.

Question 7

Chromosome

Answer 7

an organized package of DNA found in the nucleus of the cell. Different organisms have different numbers of ____. Humans have 23 pairs of chromosomes – 22 pairs of numbered ____, called autosomes, and one pair of sex ____, X and Y.

Question 8

Chorionic Villus Sampling (CVS)

Answer 8

a method of prenatal diagnosis, which is a way to directly test for genetic conditions in the fetus. During the ​___​ test, a small sample of cells is taken from the placenta where it attaches to the wall of the uterus.

Question 9

Euploid

Answer 9

The normal number of chromosomes for a species. In humans, the ​___​ number of chromosomes is 46

Question 10

Expanded Eneuploidy Analysis (EAA)

Answer 10

The expansion of NIPS analysis from only the common ____ (chromosomes 13, 18, 21, X, Y) to all 46 chromosomes

Question 11

Fetal Fraction

Answer 11

describes the proportion of the total cfDNA that is fetal in origin. The ‘fetal’ component is actually derived from placental trophoblast

Question 12

First Trimester Screening

Answer 12

a 2-step prenatal screen that assesses the risk of a baby having trisomy 13, 18, or 21 (down syndrome). Typically, ___ is done between weeks 11 and 14 of the pregnancy

Question 13

Integrated/Sequential Screen

Answer 13

two-stage screening that assesses the risk of a baby being born with Down syndrome, Trisomy 18, or Open Neural Tube Defects (ONTDs)

Question 14

Intrauterine Growth Restriction (IUGR)

Answer 14

refers to a condition in which an unborn baby is smaller than it should be because it is not growing at a normal rate inside the womb. Delayed growth puts the baby at risk of certain health problems during pregnancy, delivery, and after birth

Question 15

Karyotype

Answer 15

refers to a test to identify and evaluate the size, shape, and number of chromosomes in a sample of body cells.

Question 16

Maternal-Fetal Medicine Specialist (MFM)

Answer 16

or perinatologist, is an ob-gyn with specialized training to manage high-risk pregnancies.

Question 17

Microdeletion Syndrome

Answer 17

is a syndrome caused by a chromosomal deletion smaller than 5 million base pairs (5 Mb) spanning several genes that is too small to be detected by conventional cytogenetic methods or high resolution karyotyping (2–5 Mb).

Question 18

Monosomy

Answer 18

is the state of having a single copy of a chromosome pair instead of the usual two copies found in diploid cells. ___, or partial ____, is the cause of some human diseases such as Turner syndrome and Cri du Chat syndrome

Question 19

Noninvasive Prenatal Screening (NIPS)

Answer 19

is a method of determining the risk that the fetus will be born with certain genetic abnormalities [most often chromosomal aneuploidies – 13, 18, 21, X,Y]. ____ is considered noninvasive because it utilizes a blood sample from the pregnant woman to analyze small fragments of cell-free DNA, and does not pose any risk to the fetus. ____ is a screening test, which means that it will not give a definitive answer about whether or not a fetus has a genetic condition.

Question 20

Nuchal Translucency Screening

Answer 20

is a test done during pregnancy. It uses ultrasound to measure the thickness of the fluid buildup at the back of the developing baby’s neck. If this area is thicker than normal, it can be an early sign of Down syndrome, trisomy 18, or heart problems.

Question 21

Placenta

Answer 21

is an organ that develops in your uterus during pregnancy. This structure provides oxygen and nutrients to your growing baby and removes waste products from your baby’s blood. The ​____ attaches to the wall of your uterus, and your baby’s umbilical cord arises from it.

Question 22

Placental Insufficiency (uteroplacental vascular insufficiency)

Answer 22

is a complication of pregnancy when the placenta​ is unable to deliver an adequate supply of nutrients and oxygen to the fetus, and, thus, cannot fully support the developing baby.

Question 23

Positive Predictive Value

Answer 23

is the probability that subjects with a ​positive​ screening test truly have the disease.

Question 24

Products of Conception (POC)

Answer 24

is a medical term that refers to any tissues that developed during pregnancy - fetal tissue, placenta tissue, or other material that comes from fertilization. In the case of pregnancy loss, ____ describe material expelled from the vagina or surgically removed from the uterus.

Question 25

Quad Screen Test

Answer 25

is a maternal blood screening test​ that looks for four specific substances: AFP, hCG, Estriol, and Inhibin-A​.

Question 26

Diagnostic Ultrasound (also called sonography or diagnostic medical sonography)

Answer 26

is an imaging method that uses high-frequency sound waves to produce images of structures within your body

Question 27

Single Nucleotide Polymorphism (SNP)

Answer 27

The NIPS technology employed by Natera. This assay involves sequencing all cell-free DNA, and only maternal DNA from the buffy coat of a spun sample. A proprietary algorithm compares ____ patterns to determine the likelihood of an affected pregnancy

Question 28

Spontaneous miscarriage/spontaneous abortion (SAB) miscarriage

Answer 28

is the spontaneous loss of a pregnancy before the 20th week. About 10 to 20 percent of known pregnancies end in miscarriage. But the actual number is likely higher because many miscarriages occur so early in pregnancy that a woman doesn’t realize she’s pregnant.

Question 29

Pregnancy Termination/Abortion

Answer 29

is the removal of pregnancy tissue, products of conception or the fetus and placenta (after birth) from the uterus. In many cases, abortion is used to end a pregnancy when tests reveal that the fetus is abnormal. Therapeutic ____ refers to an abortion recommended when the mother’s health is at risk. The majority of _____ are performed during the first 12 weeks of pregnancy.

Question 30

Triploidy

Answer 30

is a rare chromosomal abnormality in which fetuses are born with an extra set of chromosomes in their cells. Sadly, ​____ is always ​fatal​ and there is no cure or treatment for the condition. Almost all (more than 99%) of babies with ​____ are miscarried or stillborn. Of those born alive, most die in the hours or days following birth.

Question 31

Trisomy

Answer 31

A type of aneuploidy characterized by the gain of an extra copy of a chromosome

Question 32

Whole Genome Sequencing (WGS)

Answer 32

The NIPS technology employed by Myriad and most other NIPS laboratories. This assay involves sequencing small stretches of DNA (tags) across the genome, determining the chromosome of origin for each tag, and counting tags to infer the presence or absence of DNA segments/chromosomes.