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Antenatal and postnatal screening (Ultrasound and biochemical testing…
Antenatal and postnatal screening
Antenatal screening
The health of a pregnant woman and her developing fetus can be monitored by using a variety of techniques and tests. We call these tests antenatal care/screenings these are employed to identify risks of disorders and abnormalities in the fetus.
Diagnostic testing
A screening test is one that is used to detect signs and symptoms of associated diseases and disorders but diagnostic tests are a definitive tests which produces results that allow exact known diseases to be identified.
Karyotyping is a visual display of the persons complete chromosome compliment and the chromosomes are arranged in pairs showing size, form and number. These karyotypes are obtained from two types of diagnostic examination
Amniocentesis, is where around week 14-16, involves the retrieval of amniotic fluid containing fetal cells. These cells are cultured and then chromosome compliments are photographed.
Chronic villus sampling is where placental cells at gathered and the cells are cultured and then used for karyotyping. CVS has a higher risk of miscarriage but can be done earlier into pregnancy.
Ultrasound and biochemical testing
Ultrasound imaging is used to see into the abdomen of a woman, the high frequency sounds reflect off the fetus creating an image through computer generation.
Dating Scan, this is an ultrasound scan used to determine the stage of pregnancy and calculate the approximate date of birth for the child.
Anomaly scan, this test is used to check for any serious physical abnormalities in the fetus.
Biochemical tests, these tests measure the concentration of various chemical within a woman's system and determine various stages of the pregnancy from the chemical concentrations. The use of marker chemicals allow for abnormalities to be checked and to monitor changes in these chemicals.
Rhesus antibody testing
Rhesus antibody testing is where the antigens on the red blood cells are tested to make sure the antigens are not seen as foreign by the mother of the child and therefore don't elicit a response.
Postnatal
Postnatal screening
This is where tests are carried out on the newborn baby to determine as soon as possible any metabolic problems or conditions (PKU)
Inheritance patterns
Autosomal recessive, the trait is exressed rarely, the trait can skip generations, the trait effects around the same number of males and females.
Autosomal dominant, the trait appears in every generation, affected have affected parents, when the trait disappears the trait is extinguished, males and females are equally affected.
Autosomal incomplete dominance, this is where some diseases can only show partial effects (trait) instead of the full harshness, we call this incomplete dominance as those with one dominant allele are less severly affected
Sex linked is where more males are affected than females, male sons of an affected male show the trait but grandsons do show the trait.