Genetics 8

Front 1

chorionic villus sampling

Back 1

procedure done for prenatal testing usually between weeks 10-13 which cannot be used to measure AFP or AChE
(maternal cell contamination can occur mimicking mosaicism in which an amnio is done)

Front 2

carrier screening

Back 2

testing of an individuals carrier state for certain diseases that they may be at higher risk for based on ancestry (e.g. CF Hb-optathies or tay sachs)

Front 3

maternal serum screening

Back 3

-aims to detect increased risk of neural tube defects or chromosomal abnormalities
-in the first trimester PAPP-A, and hCG are measured
-in second trimester AFP, hCG, uE3, inhibit are measured

Front 4

ultrasound

Back 4

women usually receive 1 or 2 ultrasounds in the 1st trimester to confirm gestational age and another at ~18-20 weeks to assess fetal anatomy and nuchal transparency (indicator of risk for chromosomal anomaly)

Front 5

amniocentesis

Back 5

low risk procedure for prenatal genetic testing that samples amniotic fluid usually after 15 weeks and can be used to test AFP and AChE

Front 6

newborn screening

Back 6

mandatory screening of 29 diseases mostly biochemical disorders and an additional 25 conditions are included
(eg. pku or congenital hypothyroidism)

Front 7

non-invasive prenatal testing

Back 7

free fetal DNA in maternal blood can be used for testing Rh and some aneuploidies without the risk of miscarriage and has the potential for cost savings

Front 8

trisomy 21 and 18 testing

Back 8

odds ratio for risk which incorporates several risk factors including: maternal age, levels of analyses, maternal weight, diabetes, and race

Front 9

open neural tube defects

Back 9

-result in increased AFP but high AFP is not specific as it can result from renal defects, abdominal wall defects, or placental integrity disorders
-neural tube defects also result in leak of ACh-esterase
-ultrasound is most informative

Front 10

cystic fibrosis

Back 10

-carrier screening mostly of caucasians and ashkenazi jews tests for the most common causative mutations

Front 11

congenital hypothyroidism

Back 11

-signs include jaundice, large tongue, abdominal dissension, hypotonia, eventual neurological damage
-low levels of circulating thyroid hormone requires life-long supplement

Front 12

tay sachs

Back 12

-autosomal recessive disease caused by mutation in hexosaminidase A
-prevalent in ashkenazi jews and so carrier screening via hex.A levels is common in this pop.

Front 13

sickle cell anemia testing

Back 13

-carrier screening tests can be done via CBC and electrophoresis

Front 14

phenylketonuria

Back 14

-autosomal recessive disease of phenylalanine metabolism that requires a phenylalanine free diet
-maternal pku and elevated phenylalanine levels puts the child at risk for miscarriage, growth restriction, microcephaly, psychomotor impairment, or heart defects

Front 15

non-syndromic deafness

Back 15

-recessive mutation of connexin-26
-diagnosed by DNA analysis of the gene for specific mutations or full sequencing

Front 16

thalassemia

Back 16

Hb-opathy with mutations common in mediterranean and asian populations that can be monitored via carrier screening