prenatal screening

Question 1

what tests are in mms1 screen

Answer 1

ultrasound scan to measure the nuchal translucency (NT) and maternal serum testing
It is a maternal serum test which is taken 9-13+6 ideally between 9-10 weeks measures, plasma A proteine and BHCG.

it makes calculates the chance by looking at the blood test reults with the

it makes calculates the chance by looking at the blood test reults with the the mother’s age, ethnicity, weight, and gestation (along with other variables) to calculate a risk for Downs Syndrome (Trisomy 21), Trisomy 18 and Trisomy 13 respectively

Question 2

mms 2

Answer 2

just the screening blood testb14-29 weeks

Question 3

what are the thresholds for an increased chance of down syndrome

Answer 3

threshold for increased chance is 1:300. As an example, wāhine with a result of 1:250 will be noted as having an increased chance of having a baby with the screened for condition and 1:350 will be low chance of having a pēpi with the screened for condition.

Question 4

what is the sensitivity of mss 1

Answer 4

84 percent

Question 5

what is the NIPT test

Answer 5

NIPS is a way of determining the chance of pēpi having certain chromosomal abnormalities such as trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome) and trisomy 13 (Patau syndrome) as well as other conditions. Most NIPS tests offer fetal sex and sex chromosome aneuploidy detection in addition to trisomies 21, 18 and 13.

Question 6

how does the NIPS work

Answer 6

it tests for small fragments of fetal DNA circulating in maternal blood stream

Question 7

what are the detection rates of MSs 2

Answer 7

A typical detection rate for Trisomy 21 would be approximately 75% with a false positive rate of 5%

Question 8

what is the testing rates of mss 1

Answer 8

A typical detection rate for Trisomy 21 would be approximately 90% with a false positive rate of 5%.

Question 9

testing rate for the NIPS

Answer 9

NIPT is the best available form of prenatal screening for Trisomy 21- it has a 99% detection rate with a false positive rate of less than 1%. However, the cost of this test is a significant barrier to screening for many women

Question 10

what are key points to remember with CVS.

Answer 10

takes cells DNA cells from the placenta. Should not be performed before 10 weeks.
Should be done under tA USS

Question 11

Amniocentisis

Answer 11

from 15 weeks pregnant remains the ‘gold standard’ for obtaining fetal cells. Amniocentesis is performed under direct ultrasound guidance, usually with a 22 gauge needle The procedure-related pregnancy loss rate is 1:1000; maternal cell contamination is rare