clin med week 2 vocab

Question 1

SLIUP, SLIUG, SIUP

Answer 1

Single Live Intrauterine Pregnancy, Single Live Intrauterine Gestation, Singleton Intruterine Pregnancy - the fetus is decveloping inside the uterus, as opposed to an ectopic pregnancy which would be outisde the uterus (ex. fallopian tube)

Question 2

SGA, AGA, LGA, IUGR

Answer 2

Small for Gestational Age - the newborn who are smaller than the normal size range for babies at a specific gestational age (less than 2500 grams), Adequate for Gestational Age - the baby who falls within the normal size range at a specific gestational age (2500-4000 grams), Large for Gestational Age - the baby who are bigger than the normnal size range at a specific gestational age (greater than 5000 grams), Intrauterine Growth Restiriction - Poor growth of a baby while in the womb and the weight is below the 10th percentile for its gestatoinal age.. All weights are given at 42 weeks gestation.

Question 3

LMP

Answer 3

Last Menstrual Period - The first day of a women’s most recent period. Used to calculate conception, gestational age of fetus, and estimated day of confinement.

Question 4

EDC

Answer 4

Estimated Date of Confinement - the estimated due date for the birth of a baby. An easy way to estimate the EDC is to take the LMP and subtract 3 from the month, add 7 to the date, and adjust for the year.

Question 5

AMA

Answer 5

Advanced Maternal Age - Woman giving birth above the age of 35

Question 6

Trisomy 18

Answer 6

Also called Edward’s Syndrome. Caused by an extra partial or full copy of chromosome 18. The fetus recieving an extra chromosome 18 is a result of non-disjunction event in the gametes that came together. When a woman reaches AMA, the likelihood of having a non-disjunction event during oogenesis increases. It has an occurance rate of 1 in 5000 live births. 90 % of cases will experience congenital heart defects, micrognathia, low birth weight, intellectual disability, hypertonia along with many other symptoms. About half of cases will experience webbed neck. Half of the cases pass away within the first week, while 99% of cases pass away before the first year. The medain age of survival is 14.5 days.

Question 7

Quad screen

Answer 7

Maternal blood test that screens for AFP, hCG, Estriol and Inhibin-A. It is used to detect chromosomal anomalies. The screen is done between 15 and 22 weeks. An example of an abnormal result would be low AFP and estriol levels and high hCG and Inhibin-A levels. This could mean the baby has a chromosomal anomly such as Down Syndrome or trisomy 18, however this test is not diagnostic. It would require further follow up and testing (for example amniocentesis) to confirm if there are any actual anomalies. High levels of AFP can also indicate further testing should be done to look into anecephaly, spina bifida, turner syndrome and heart and intestinal defects.

Question 8

CHD (congenital heart disease)

Answer 8

An abnormality in the structure of the heart that people are born with. People with CHD have disruptions of blood flow through the heart. May involve problems in the valves of the heart, walls of the heart, or in the veins and arteries near the heart. Also known as cogenital heart defects, and is the most common type of birth defect affecting 8 out of 1,000 newborns. Occurs during heart development between the third and eight week of gestation. Some defects are non-pathogenic and do not require treatment but others require treatment that can include surgery and medication.

Question 9

FOB

Answer 9

Father of baby. This term should be used when you are even slightly uncertain of about the relationship between the pregnant patient and the other person.

Question 10

Sickle cell disease

Answer 10

a group of autosomal recessive red blood cell disorders in which people have abnormal hemoglobin. In red blood cells the hemoglobin protein carries oxygen to body tissues. Red blood cells that have normal hemoglobin are disc-shaped, which allows them to be flexible and move through blood vessels. Cells with abnormal hemoglobin, called sickle hemoglobin or hemoglobin S, are crescent-shaped and not flexible. Red blood cells that are sickle-shaped can get stuck to blood vessel walls causing blockages that reduce or stop blood flow, which prevents oxygen from reaching tissues. Lack of tissue oxygen can cause severe pain and organ damage. Affects 70,000-80,000 Americans, and is estimated to occur in 1 in 500 African Americans and 1 in 1,000 to 1 in 1,400 Hispanic Americans. There is no cure for sickle cell disease. Available treatments are for management of symptoms and include pain medications and blood transfusions. In a small number of patients bone marrow transplants have been used to successfully cure them, but they are generally only used for children with severe sickle cell disease who have minimal organ damage from the disease.

Question 11

Hemoglobin electrophoresis

Answer 11

a lab test that measures the levels of different types of hemoglobin in the blood. A blood sample is taken, the blood placed in a gel, and an electric current is applied. The hemoglobin moves on through the gel and forms bands that show the levels of the different types of hemoglobin. There are many different types of hemoglobin, most of them are abnormal types. The most common types of hemoglobin are HbA, HbA2, HbF, HbS, HbC, Hb H, and HbM. Healthy adults usually only have significant levels of HbA and HbA2.

Question 12

Sickle trait

Answer 12

A person who has one copy of the sickle cell gene and is a carrier of the disease has sickle cell trait. They are usually healthy and do not have any symptoms of sickle cell disease. Sickle cell trait is screened for because people with sickle cell trait can pass on the gene to their children, and if two people with sickle cell trait have a child that child could have sickle cell disease. Sickle cell trait can be identified on the NYS newborn screen.

Question 13

Hgb SS

Answer 13

Sickle cell anemia. A person has two copies of the gene for sickle hemoglobin (hemoglobin S). Can be identified on the NYS newborn screen.

Question 14

Hgb AS

Answer 14

Sickle cell trait. A person has one copy of the gene for the usual hemoglobin (A) and one copy of the gene for hemoglobin S. Can be identified on the NYS newborn screen.

Question 15

Hgb SC

Answer 15

Sickle-hemoglobin C disease (also Hb SC) coinhereted hemoglobin S and hemoglobin C alleles. The second most common sickle-cell disease (behind sickle cell anemia). Symptoms are similar to sickle cell anemia, but the anemia is less severe.

Question 16

Hgb A2

Answer 16

Hemoglobin A2 is normal variant of hemoglobin found in low levels in the blood. Can have elevated levels in Beta-thalassemia or those with the trait.

Question 17

Hgb F

Answer 17

Hemoglobin F or fetal hemoglobin - the main way oxygen is transported in the last seven months of fetal development and is still present for the first 6 months after birth

Question 18

Hydropsfetalis

Answer 18

Fluid is built up in 2 or more parts of the fetus/newborn. There is immune hydrops fetalis that occurs when there is a severe form of RH incompatibility (mother is RH neg, baby is RH pos, mother’s antibodies destroys red blood cells in fetus and causes body swelling). Note happens less because because mothers are treated with RhoGAM. Nonimmune forms can occur with heart/lung problems, severe anemia (like from thalassemia listed below) or genetic/dvelopmental problems like Tuner syndrome.

Question 19

Beta Thal trait

Answer 19

Carrier for Beta-thalassemia (where the beta subunit of hemoglobin isn’t produced). Gene is HBB. Beta-thalassemia is autosomal recessive (except a small portion is autosomal dominant). Thalassemia major result in severe anemia and hepatosplenomegaly within first two years of life, and without treatment affected children have severe failure to thrive and a shortened life expectancy. Thalassemia intermedia presents later and have milder anemia. Treatment for major is regular blood transfusions and chelation therapy. Intermedia treatment is occasional blood transfusion. Carrier’s may be slightly anemic but are laregely asymptomatic. More common from Mediterranean decent.

Question 20

Alpha Thal trait

Answer 20

A person is missing two out of the four alpha-globin alleles (alpha-globin is a subunit of heboglobin on the HBA1 and HBA2 genes). Heboglobin is normal but fewer in number. May present with mild anemia. If a person is a carrier with only one missing allele will not have any symptoms and is considered a silent carier. It occurs frequently in Southeast Asia, and people from Mediterranean countries, North Africa, the Middle East India and Central Asia.

Question 21

Teratogen

Answer 21

An environmental factor that causes a malformation of an embryo. The exposure timing of the teratogen is key to the developent of a malformation. So if a key teratogen is known to cause heart defects, but the exposure is after the 8th week of development, a malformation won’t form. Examples of teratogens: Alchohol can lead to fetal alchohol syndrome (FAS). Thalidomide was a drug used for morning sickness initially but resulted in phocomelia.