Statistics and Genetics(SBA+EMQ) - Statistics and Genetics Module_part2

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1) . The proportion of the screened population who have a positive result.


A 30-year-old woman had a second trimester miscarriage at 19 weeks of gestation. The baby
was growth restricted, had polydactyly in the upper limbs and cleft lip and palate on external
examination. The postmortem examination revealed features of holoprosencephaly and
ventricular septal defect (VSD).
What is the most likely diagnosis on karyotyping?

3) . To measure the incidence of a disease.


To determine whether forceps delivery increases chances of having pelvic floor surgery later in

5) Find out the positive likelihood ratio


A researcher has done a comparative study between two populations with regard to the intelligence
quotient (IQ). The mean IQ for the first group is 75 and it is 80 for the second (P<0.1). What would be the conclusion of this study?

7) To study a rare exposure.

8) Find out the negative likelihood ratio

9) Regarding statistical analysis, which of the following is true?


. To determine whether forceps delivery increases chances of having pelvic floor surgery later in


A study to assess the outcomes of small-for-gestational age neonates born in a district general
hospital over two-year period, and to record their developmental milestones at one, two and five


A study to assess which regimen would provide better glycemic control in nulliparous pregnant
patients diagnosed with gestational diabetes: for the first four weeks, one group of primiparous
women are to be treated with metformin and insulin, the second group with metformin alone; in
week five, the treatments are switched over


A drug company is undergoing a trial for a new medication for the treatment of heavy menstrual
bleeding. One thousand women are recruited; 550 women are given the new medication and the
rest are given a placebo. The mean age is 32 (SD=5) and 36 (SD=7) years for the former and the latter
group, respectively. The women s ages are normally distributed.
What is the percentage of the women whose ages range between 29 and 43 years in the placebo


A 26-year-old woman attended the gynaecology outpatient clinic with secondary
amenorrhoea. After investigation she was diagnosed as having premature ovarian failure. She was
noted to be 150 cm tall and have a low hairline.
What is the most likely karyotype?


A researcher is studying the relationship between high beta-human chorionic gona- dotropin (BhCG),
low pregnancy-associated plasma protein A (PAPP-A), increased nuchal translucency and the risk of
Down syndrome.
Which of the following tests can the researcher use to analyze the results?

16) . The ability of a screening test to identify unaffected individuals.

17) To determine whether age, parity, smoking affects the birth weight.

18) . When little is known about the magnitude of a health problem.

19) To measure the prevalence of a disease.


A drug company ran a trial for the effect of a new medication on the treatment of PIH. Following
the appropriate approval from the Regional ethics committee and consent from the women, 1000
pregnant women were randomly allocated to one of two different groups. The treatment group
received a regular single low dose of the new drug and the control group did not. The number
needed to treat (NNT) is calculated as 10.
What is meant by the number needed to treat (NNT)?

21) To assess whether HbA1c level is related to the birth weight in diabetic mothers.

22) The proportion of individuals screened positive who do not actually have the condition.

23) Which of the following genetic disorders is correctly linked to the transmission type?

24) To compare the mean time of delivery between ventouse and forceps delivery.


A 25-year-old school teacher has come to see you in antenatal clinic. She is at 10 weeks of
gestation in her first pregnancy. Her partner is known to have glucose 6-phosphatase deficiency.
She is otherwise fit and healthy. She has been tested negative for the condition.
What is the risk of her child being a carrier for the same condition?

26) Find out the sensitivity of the diagnostic test

27) . The ability of a test to identify affected individuals.

28) . To study a rare outcome.


A healthy woman attends for pre-pregnancy counselling. Her brother has cystic fibrosis. Her
husband is White British. He has been screened for cystic fibrosis and the test was negative.
What is the risk of them having a child with cystic fibrosis?

30) To obtain the strongest evidence of association between exposure and outcome.


The likelihood that an individual screened positive for the condition actually has the

32) . To compare the mean time of delivery between ventouse and forceps delivery.


The RCOG has published a new guideline on infertility. An auditable standard was identified to
assess different techniques for the evaluation of tubal function among infertile women in this


A study looks to compare the birth weight of the 140 babies delivered by forceps with the 1724
delivered by SVD in a year on a labour ward.
What would be the most suitable statistical test to use in this comparison?


A researcher wants to measure the incidence of angular pregnancy. The following research
methodology should be used:


A new serum marker, XZT, is being assessed to see if it is helpful in PE to a safe level in pregnant
women. In nonpregnant women a negative XZT has been shown to have a high negative predictive
value for PE. CTPA is used as the gold standard. e 998 pregnant women having a CTPA performed to
assess for PE have their XZT checked. Forty-eight of the women are diagnosed with PE based on
CTPA; of these, 47 have a positive XZT and one has a negative XZT. Over 950 women have no PE
diagnosed on CTPA; of these, 100 have a positive XZT and 850 have a negative XZT.
What is the negative predictive value o XZT or PE in this population o pregnant women?


A study is designed to compare the age distribution in patients presenting with ectopic
pregnancy. The null hypothesis is that there is no difference in the age groups of women presenting
with ectopic pregnancy.
The appropriate statistical test is:


A researcher is studying the side effects of a new antihypertensive medication in two groups of
pregnant women (100 women in each group) with PIH. The first group receives the new medication
while the other receives a conventional one.
Which type of the epidemiological studies will suit this study?

39) Find out the specificity of the diagnostic test


You would like to conduct a test to see if there is a statistical difference between the
birthweight of babies born on Mondays and Fridays. Which test will be most useful?


An audit is being done where the methods of induction of labour are being compared.
The statistical test to compare two sets of observations on a single sample would be:


A study to compare the care profile of patients who underwent hysterectomy either
laparoscopically or by standard open approach in tertiary center by review of case notes.

You are critically appraising a diagnostic paper on the use of MRI to diagnose severe
endometriosis. The paper assesses predictive values of the test but you wish to determine
whether the test usefully changes the probability of disease.

43) Which answer best describes the likelihood ratios and interpretation of the test.


A study to analyze maternal and fetal outcomes for CS performed at full cervical dilation in a
tertiary level centre over the past two years.


You are interested in finding out which type of anaesthetic is more comfortable, from a
patient's perspective, for use during a caesarean section – epidural or spinal. Which type of study
would you think is the most appropriate to help you answer your question most effectively?

Your score is