Tay-Sachs disease (TSD, Hexosaminidase A deficiency)
enlarged blood vessels near the surface of the skin 1 to 3 mm in width and
several mm to centimeters in length.
Anything that can cause a birth defect such as a maternal
condition (diabetes, PKU) , a drug (alcohol), a medication (valproic acid,
isotretinoin) , an infectious agent (toxoplasmosis, cytomegalovirus) or a
physical agent (ionizing radiation).
Either of the two male reproductive organ found in the pouch (scrotum) below
the penis. The testicles produce sperm and sex hormones.
A steroid hormone produced by the Leydig cells of the
testicles (and to a lesser extent the ovaries and adrenal glands) that promotes
the development of secondary male sexual characteristics.
Male: 10 - 35 nmol/L (3 - 10 ng/mL)
Female: Less than 3.5 nmol/L ( < 1 ng/mL)
Prepubertal boys and girls: 0.17 - 0.7 nmol/L (0.05 -0.2 ng/mL)
Tetralogy of Fallot
A group of inherited blood disorders
characterized by moderate to severe anemia. Thalassemias are
caused by defects in the genes that control production of globins, the building
blocks of hemoglobin (the oxygen carrying molecule in red blood cells).
The two main types of thalassemia are alpha-thalassemia and beta-thalassemia
α-Thalassemia-2 trait also known as
Silent Carrier (α-Thalassemia-2 Trait)(One
affected gene) has no consistent hematologic manifestations.
The red blood cells are not microcytic, and Hb A2 and Hb F are
A lower than normal number (count) of platelets in the blood. Platelets are cell fragments in the blood
that help to form blood clots.
150,000 to 450,000 platelets per microliter (x 10–6/Liter)
Persons with low platelet numbers may experience
nosebleeds, gum bleeding , bruises and small red pinpoints on the skin
(petechiae). Rarely persons will experience bleeding into the
urine, gastrointestinal tract, or into the head with very low platelet numbers.
Common causes of thrombocytopenia during pregnancy include:
Immune thrombocytopenic purpura
Heparin, quinine, quinidine, zidovudine, sulfonamides,
trimethoprim-sulfamethoxazole, gold compounds, sulfonamides, rifampin, valproic
acid, phenytoin , digitalis ranitidine, cimetidine, procainamide, ampicillin,
penicillin, alpha-methyl dopa, ethanol, aspirin, acetaminophen, indocin
Less common: Systemic lupus Erythematosus, antiphospholipid syndrome, human immunodeficiency virus (HIV) infection
, B12 or folate deficiency, hyperthyroidism, massive transfusion, prosthetic heart valves,
thrombotic Thrombocytopenic Purpura (TTP), sepsis , disseminated intravascular coagulation (DIC)
, hypersplenism, hemolytic uremic syndrome, hereditary thrombocytopenias, alcoholism,
leukemia, aplastic anemia
A yeast (Candida) infection of the tongue , mouth , and
throat characterized by white patches and ulcers. Thrush is usually seen in
infants , but occurs with increased frequency in adults with diabetes or HIV.
The concentration of an antibody in the blood.
The titer is measured by diluting a sample until the antibody is no longer
The result is given as the reciprocal (inverse) of the last dilution giving a measurable
A blood sample (tube 1) has
been diluted by 1/2 to produce tube 2, tube 2 was
diluted by 1/2 to
produce tube 3 and so forth.
A substance was added to each
tube to detect antibody.
The 4th tube is the last dilution
at which the antibody is detected, and it is 1/8 th the
strength of the original
The titer of the antibody is
A substance that decreases uterine contractions.
Total iron-binding capacity (TIBC)
A measurement of the amount of iron
that can potentially be bound by transferrin.
- If the iron stores in the body are low, fewer sites on the
transferrin molecules will be filled by iron, and the TIBC will be
higher. If the amount of transferrin is increased the TIBC will also be increased.
- If the iron stores in the body are very high the or transferrin is
decreased then the TIBC will be low because most of the binding sites are filled.
A low TIBC may be seen in hemochromatosis, sideroblastic anemia, and liver
An illness caused by the parasite,
Toxoplasma gondii. Toxoplasma gondii is found in raw and undercooked meat;
unwashed fruits and vegetables; dirty cat-litter boxes; and outdoor places where
cat feces can be found.Fetal infection can occur via transplacental
The protein found in blood that carries iron. The liver produces transferrin,
and increases its production of transferrin in response to iron
deficiency and pregnancy.
Transferrin saturation (%)
Percent transferrin saturation (TSAT)
Transposition of the great arteries (TGA, Transposition of
the Great Vessels, TGV )
A birth defect of the heart in which the the aorta and
the pulmonary artery are switched (transposed). The aorta arises from the right
ventricle instead of from the left ventricle, and the pulmonary artery arises
from the left ventricle instead of arising from the right ventricle. In
transposition of the great arteries the blood from the body enters the right
side of the heart and flows into the aorta back to the body without receiving
oxygen from the lungs.
While in the uterus the fetus is able to maintain adequate delivery of oxygen
to the body because the formen ovale allows mixing of blood between the right
and left atrium and the ductus arteriosus allows mixing of the blood between the
pulmonary artery and the aorta. After delivery the baby will become blue due to lack of oxygen if these structures are
not kept open.
Then ductus may be kept open using drugs and t he
foramen ovale can be enlarged with a catheter procedure which is performed in
the first few days of life. An "Arterial Switch Operation" carried out
in the first week or two of life corrects the primary abnormality. T he
small coronary arteries, which feed the heart muscle are
transferred as well.
On ultrasound examination the junction of two amniotic sacs forms a 90 degree angle with the placenta, a T-shaped junction.
There is no placental tissue extending between the amniotic membranes. The
T-sign strongly indicates that there is a single placenta (monochorionic).
Twin peak sign, Lambda sign
On ultrasound examination the presence of a triangular projection of
placental tissue extending between two amniotic sacs. The twin peak sign
strongly indicates that there are two separate placentas (dichorionic).