MRCOG Part 1 – Genetics

Question 1 of 48

Which of the following genetic syndromes is not associated with infertility?

Alport Syndrome

Correct Incorrect Correct answer

Fragile X Syndrome

Correct Incorrect Correct answer

Kallman Syndrome

Correct Incorrect Correct answer

Kartagener's Syndrome

Correct Incorrect Correct answer

Turner's Syndrome

Correct Incorrect Correct answer

Question 2 of 48

A 28-year-old woman presents with recurrent pregnancy loss in the first trimester. What is the most common fetal chromosomal abnormality associated with recurrent early pregnancy loss?

Monosomy

Correct Incorrect Correct answer

Polyploidy

Correct Incorrect Correct answer

Reciprocal translocation

Correct Incorrect Correct answer

Robertsonian translocation

Correct Incorrect Correct answer

Trisomy

Correct Incorrect Correct answer

Question 3 of 48

A pregnant woman has a family history of Huntington’s disease and is currently 13 weeks gestation. What is the most appropriate next step?

Amniocentesis

Correct Incorrect Correct answer

Chorionic villus sampling (CVS)

Correct Incorrect Correct answer

Genetic counselling

Correct Incorrect Correct answer

Non-invasive prenatal testing (NIPT)

Correct Incorrect Correct answer

Partner testing

Correct Incorrect Correct answer

Question 4 of 48

A pregnant woman is found to have anti red cell antibodies at booking and is offered non-invasive fetal genotyping.Which of the following antigens is not possible to test for using non-invasive fetal genotyping?

C

Correct Incorrect Correct answer

c

Correct Incorrect Correct answer

D

Correct Incorrect Correct answer

Fya

Correct Incorrect Correct answer

Kell

Correct Incorrect Correct answer

Question 5 of 48

What type of gene is faulty in women who carry a BRCA mutation?

DNA mismatch repair (MMR) gene

Correct Incorrect Correct answer

Oncogene

Correct Incorrect Correct answer

p53 gene

Correct Incorrect Correct answer

RAS gene

Correct Incorrect Correct answer

Tumour suppression gene

Correct Incorrect Correct answer

Question 6 of 48

What is the inheritance pattern for BRCA1 and BRCA2 germline mutations?

Autosomal dominant

Correct Incorrect Correct answer

Autosomal recessive

Correct Incorrect Correct answer

Sporadic

Correct Incorrect Correct answer

Variable penetrance

Correct Incorrect Correct answer

X-linked

Correct Incorrect Correct answer

Question 7 of 48

A woman is referred for genetic counselling after a diagnosis of breast cancer with BRCA1 germline mutation. Which of the following characteristics are less suggestive of an underlying BRCA1 mutation?

Invasive ductal carcinoma

Correct Incorrect Correct answer

HER2 receptor positive

Correct Incorrect Correct answer

Higher tumour grade

Correct Incorrect Correct answer

Triple negative receptor phenotype

Correct Incorrect Correct answer

Younger age at diagnosis

Correct Incorrect Correct answer

Question 8 of 48

What is the prevalence of Lynch Syndrome in women with endometrial cancer?

3%

Correct Incorrect Correct answer

6%

Correct Incorrect Correct answer

9%

Correct Incorrect Correct answer

12%

Correct Incorrect Correct answer

15%

Correct Incorrect Correct answer

Question 9 of 48

A 25 year old is referred to Gynaecology clinic by her geneticist following a recent diagnosis of Lynch syndrome with a mutation in the MSH2 gene identified. What should be recommended to reduce her risk of cancer?

Aspirin

Correct Incorrect Correct answer

Combined oral contraceptive pill

Correct Incorrect Correct answer

Hysterectomy and bilateral salpingo-oophorectomy

Correct Incorrect Correct answer

Levonorgestrel IUS

Correct Incorrect Correct answer

Weight loss

Correct Incorrect Correct answer

Question 10 of 48

A 32 year old primiparous woman is referred from her dating scan at 12 weeks gestation with abnormal findings of a raised nuchal translucency of 5mm, a small omphalocele containing bowel and fused cerebral hemispheres and a single ventricle. What is the most likely diagnosis?

Triploidy

Correct Incorrect Correct answer

Trisomy 13

Correct Incorrect Correct answer

Trisomy 18

Correct Incorrect Correct answer

Trisomy 21

Correct Incorrect Correct answer

Turner Syndrome

Correct Incorrect Correct answer

Question 11 of 48

A 32 year old primiparous woman is referred from her anomaly scan at 20 weeks gestation with abnormal findings of a raised nuchal fold of 10mm, suspected atrio-ventricular septal defect, absent nasal bone and short femurs. What is the most likely diagnosis?

Triploidy

Correct Incorrect Correct answer

Trisomy 13

Correct Incorrect Correct answer

Trisomy 18

Correct Incorrect Correct answer

Trisomy 21

Correct Incorrect Correct answer

Turner's Syndrome

Correct Incorrect Correct answer

Question 12 of 48

A 32 year old primiparous woman is referred from her anomaly scan at 20 weeks gestation with abnormal findings of a strawberry shaped head, congenital diaphragmatic hernia, spina bifida and bilateral talipes. What is the most likely diagnosis?

Triploidy

Correct Incorrect Correct answer

Trisomy 13

Correct Incorrect Correct answer

Trisomy 18

Correct Incorrect Correct answer

Trisomy 21

Correct Incorrect Correct answer

Turner's Syndrome

Correct Incorrect Correct answer

Question 13 of 48

A 21 year old in her first pregnancy is referred with a higher chance combined screening result. What is the cut off for a higher chance screening result?

1 in 50

Correct Incorrect Correct answer

1 in 100

Correct Incorrect Correct answer

1 in 150

Correct Incorrect Correct answer

1 in 200

Correct Incorrect Correct answer

1 in 250

Correct Incorrect Correct answer

Question 14 of 48

A 24 year old primiparous woman attends for her dating scan which shows a singleton viable intra-uterine pregnancy with CRL of 90mm and head circumference of 110mm. She wishes to have screening for Down’s syndrome. What is the most appropriate investigation?

Anomaly scan

Correct Incorrect Correct answer

Combined screening

Correct Incorrect Correct answer

Invasive testing

Correct Incorrect Correct answer

Non-invasive prenatal testing

Correct Incorrect Correct answer

Quadruple test

Correct Incorrect Correct answer

Question 15 of 48

A 30 year old woman is referred from screening with a higher chance combined screening result at 12 weeks gestation. The nuchal translucency is 6mm with a combined screening result of 1 in 5 for Trisomy 21 and 1 in 140 for Trisomy 13/18. What is the next most appropriate investigation?

Amniocentesis

Correct Incorrect Correct answer

Chorionic villous sampling

Correct Incorrect Correct answer

Non-invasive prenatal testing

Correct Incorrect Correct answer

Fetal anatomy scan at 16 weeks

Correct Incorrect Correct answer

Fetal echocardiography at 16 weeks

Correct Incorrect Correct answer

Question 16 of 48

A 30 year old woman is referred from screening with a higher chance combined screening result at 12 weeks gestation. The nuchal translucency is 1.7mm with a combined screening result of 1 in 5 for Trisomy 21 and 1 in 140 for Trisomy 13/18. She opts to have NIPT as she wants to avoid any increased risk of miscarriage. The NIPT result is reported as higher chance for T21 and the woman wishes to confirm the result. What is the next most appropriate investigation?

Amniocentesis

Correct Incorrect Correct answer

Chorionic villous sampling

Correct Incorrect Correct answer

Fetal anatomy and cardiac scan at 16 weeks

Correct Incorrect Correct answer

No further testing

Correct Incorrect Correct answer

Repeat non-invasive prenatal testing

Correct Incorrect Correct answer

Question 17 of 48

A 30 year old woman is referred from screening with a higher chance combined screening result at 12 weeks gestation. The nuchal translucency is 1.7mm with a combined screening result of 1 in 5 for Trisomy 21 and 1 in 140 for Trisomy 13/18. She opts to have NIPT as she wants to avoid any increased risk of miscarriage. The NIPT result is reported as lower chance. What is the next most appropriate step?

Amniocentesis

Correct Incorrect Correct answer

Chorionic villous sampling

Correct Incorrect Correct answer

Fetal anatomy and cardiac scan at 16 weeks

Correct Incorrect Correct answer

No further testing

Correct Incorrect Correct answer

Repeat non-invasive prenatal testing

Correct Incorrect Correct answer

Question 18 of 48

A 30 year old woman is referred from screening with a higher chance combined screening result at 12 weeks gestation. The nuchal translucency is 1.7mm with a combined screening result of 1 in 5 for Trisomy 21 and 1 in 140 for Trisomy 13/18. She opts to have NIPT as she wants to avoid any increased risk of miscarriage. The NIPT result is reported as ‘no result’. What is the next most appropriate investigation?

Amniocentesis

Correct Incorrect Correct answer

Chorionic villous sampling

Correct Incorrect Correct answer

Fetal anatomy and cardiac scan at 16 weeks

Correct Incorrect Correct answer

No further testing

Correct Incorrect Correct answer

Repeat non-invasive prenatal testing

Correct Incorrect Correct answer

Question 19 of 48

Which of the following is not an exclusion criteria for non-invasive prenatal testing?

Blood transfusion within previous 4 months

Correct Incorrect Correct answer

Dichorionic twin pregnancy

Correct Incorrect Correct answer

Maternal T21 mosaicism

Correct Incorrect Correct answer

Renal transplant

Correct Incorrect Correct answer

Vanished twin pregnancy

Correct Incorrect Correct answer

Question 20 of 48

Which of the following means the combined screening test cannot be offered?

Dichorionic twin pregnancy

Correct Incorrect Correct answer

IVF pregnancy with donor egg from donor aged 20

Correct Incorrect Correct answer

Monochorionic twin pregnancy

Correct Incorrect Correct answer

Twin pregnancy with empty second pregnancy sac

Correct Incorrect Correct answer

Twin pregnancy with second pregnancy sac containing a non-viable fetus

Correct Incorrect Correct answer

Question 21 of 48

From what gestation can amniocentesis be carried out?

13+0

Correct Incorrect Correct answer

14+0

Correct Incorrect Correct answer

15+0

Correct Incorrect Correct answer

16+0

Correct Incorrect Correct answer

17+0

Correct Incorrect Correct answer

Question 22 of 48

A 22 year woman books for antenatal care at 8 weeks gestation. She and her partner are both sickle cell trait carriers and her booking bloods show HbsAG +ve, AntiHBc +ve, HBsAb -ve with viral load of 9log₁₀. She wishes to have prenatal diagnosis to ascertain the sickle cell status of her pregnancy. What is the most appropriate option?

Amniocentesis at 14+0

Correct Incorrect Correct answer

Amniocentesis at 15+0

Correct Incorrect Correct answer

Chorionic villous sampling at 9+6

Correct Incorrect Correct answer

Chorionic villous sampling at 10+6

Correct Incorrect Correct answer

Chorionic villous sampling at 11+6

Correct Incorrect Correct answer

Question 23 of 48

Which of the following does not form part of the quadruple test?

Alpha fetoprotein (AFP)

Correct Incorrect Correct answer

Human chorionic gonadotrophin (hCG)

Correct Incorrect Correct answer

Inhibin A

Correct Incorrect Correct answer

Pregnancy Associated Plasma Protein A (PAPP-A)

Correct Incorrect Correct answer

Unconjugated estradiol (uE3)

Correct Incorrect Correct answer

Question 24 of 48

Which of the following does not form part of the combined screening test?

Alpha fetoprotein (AFP)

Correct Incorrect Correct answer

Crown-rump length (CRL)

Correct Incorrect Correct answer

Human chorionic gonadotrophin (hCG)

Correct Incorrect Correct answer

Nuchal translucency measurement

Correct Incorrect Correct answer

Pregnancy Associated Plasma Protein A (PAPP-A)

Correct Incorrect Correct answer

Question 25 of 48

A couple presents with infertility. The male partner has a history of cystic fibrosis (CF). What is the most likely inheritance pattern of CF?

Autosomal dominant

Correct Incorrect Correct answer

Autosomal recessive

Correct Incorrect Correct answer

Mitochondrial

Correct Incorrect Correct answer

X-linked dominant

Correct Incorrect Correct answer

X-linked recessive

Correct Incorrect Correct answer

Question 26 of 48

A couple attend the fetal medicine clinic and the fetus is confirmed on scan to be male. The mother is confirmed as a heterozygous carrier of haemophilia A. What is the likelihood that their son will have haemophilia A?

0%

Correct Incorrect Correct answer

25%

Correct Incorrect Correct answer

50%

Correct Incorrect Correct answer

75%

Correct Incorrect Correct answer

100%

Correct Incorrect Correct answer

Question 27 of 48

A couple attend the fetal medicine clinic and the fetus is confirmed on scan to be female. The mother is confirmed as a heterozygous carrier of haemophilia A. What is the likelihood that their daughter will have haemophilia A?

0%

Correct Incorrect Correct answer

25%

Correct Incorrect Correct answer

50%

Correct Incorrect Correct answer

75%

Correct Incorrect Correct answer

100%

Correct Incorrect Correct answer

Question 28 of 48

A couple attend the fetal medicine clinic and the fetus is confirmed on scan to be female. The mother is confirmed as a heterozygous carrier of haemophilia A. What is the likelihood that their daughter will be a carrier for haemophilia A?

0%

Correct Incorrect Correct answer

25%

Correct Incorrect Correct answer

50%

Correct Incorrect Correct answer

75%

Correct Incorrect Correct answer

100%

Correct Incorrect Correct answer

Question 29 of 48

A couple attend the fetal medicine clinic and the fetus is confirmed on scan to be male. The mother is confirmed as a heterozygous carrier of haemophilia A. What is the likelihood that their son will be a carrier for haemophilia A?

0%

Correct Incorrect Correct answer

25%

Correct Incorrect Correct answer

50%

Correct Incorrect Correct answer

75%

Correct Incorrect Correct answer

100%

Correct Incorrect Correct answer

Question 30 of 48

A pregnant woman and her partner are both identified as a carriers for beta-thalassemia. What is the chance of having a baby affected by beta thalassemia?

0%

Correct Incorrect Correct answer

25%

Correct Incorrect Correct answer

50%

Correct Incorrect Correct answer

75%

Correct Incorrect Correct answer

100%

Correct Incorrect Correct answer

Question 31 of 48

A pregnant woman and her partner are both identified as a carriers for beta-thalassemia. What is the chance of having a baby who is also a carrier for beta thalassemia?

0%

Correct Incorrect Correct answer

25%

Correct Incorrect Correct answer

50%

Correct Incorrect Correct answer

75%

Correct Incorrect Correct answer

100%

Correct Incorrect Correct answer

Question 32 of 48

A woman with a history of recurrent pregnancy loss is found to have a balanced translocation involving chromosomes 11 and 22. What is the risk of transmitting an unbalanced translocation to her offspring?

0%

Correct Incorrect Correct answer

25%

Correct Incorrect Correct answer

50%

Correct Incorrect Correct answer

75%

Correct Incorrect Correct answer

100%

Correct Incorrect Correct answer

Question 33 of 48

A woman is diagnosed with hereditary nonpolyposis colorectal cancer (HNPCC). Which gene mutation is commonly associated with HNPCC?

APC

Correct Incorrect Correct answer

BRCA1

Correct Incorrect Correct answer

MLH1

Correct Incorrect Correct answer

RET

Correct Incorrect Correct answer

TP53

Correct Incorrect Correct answer

Question 34 of 48

A newborn is found to have a distinctive high pitched cry, microcephaly, and intellectual disability. What genetic abnormality is most likely to be responsible for these features?

Angelman syndrome

Correct Incorrect Correct answer

Cri-du-chat syndrome

Correct Incorrect Correct answer

Prader-Willi syndrome

Correct Incorrect Correct answer

Trisomy 13

Correct Incorrect Correct answer

Williams syndrome

Correct Incorrect Correct answer

Question 35 of 48

A woman with a family history of breast cancer is found to have a mutation in the BRCA2 gene. What is the risk of her developing breast cancer?

13%

Correct Incorrect Correct answer

25%

Correct Incorrect Correct answer

50%

Correct Incorrect Correct answer

65%

Correct Incorrect Correct answer

90%

Correct Incorrect Correct answer

Question 36 of 48

A woman with a family history of breast cancer is found to have a mutation in the BRCA2 gene. What is the risk of her developing ovarian cancer?

13%

Correct Incorrect Correct answer

30%

Correct Incorrect Correct answer

50%

Correct Incorrect Correct answer

70%

Correct Incorrect Correct answer

90%

Correct Incorrect Correct answer

Question 37 of 48

A woman with a family history of breast cancer is found to have a mutation in the BRCA1 gene. What is the risk of her developing breast cancer?

13%

Correct Incorrect Correct answer

30%

Correct Incorrect Correct answer

50%

Correct Incorrect Correct answer

70%

Correct Incorrect Correct answer

90%

Correct Incorrect Correct answer

Question 38 of 48

A woman with a family history of breast cancer is found to have a mutation in the BRCA1 gene. What is the risk of her developing ovarian cancer?

13%

Correct Incorrect Correct answer

30%

Correct Incorrect Correct answer

40%

Correct Incorrect Correct answer

70%

Correct Incorrect Correct answer

90%

Correct Incorrect Correct answer

Question 39 of 48

A couple has a child with neurofibromatosis type 1 (NF1). What is the mode of inheritance of NF1?

Autosomal recessive

Correct Incorrect Correct answer

Autosomal dominant

Correct Incorrect Correct answer

Mitochondrial

Correct Incorrect Correct answer

Variable penetrance

Correct Incorrect Correct answer

X-linked recessive

Correct Incorrect Correct answer

Question 40 of 48

A couple with consanguinity has a child with autosomal recessive albinism. What is the risk of their next child being affected?

0%

Correct Incorrect Correct answer

25%

Correct Incorrect Correct answer

50%

Correct Incorrect Correct answer

75%

Correct Incorrect Correct answer

100%

Correct Incorrect Correct answer

Question 41 of 48

A couple have a child who subsequently develops hyperphagia, obesity, intellectual disability, and hypogonadism. What genetic disorder is most likely responsible for these features?

Angelman syndrome

Correct Incorrect Correct answer

Down syndrome

Correct Incorrect Correct answer

Fragile X syndrome

Correct Incorrect Correct answer

Prader-Willi syndrome

Correct Incorrect Correct answer

Turner syndrome

Correct Incorrect Correct answer

Question 42 of 48

A newborn exhibits hypotonia, poor feeding, and a “floppy” appearance. Genetic testing reveals a deletion on the long arm of chromosome 15. What syndrome is most likely present?

Angelman syndrome

Correct Incorrect Correct answer

Down syndrome

Correct Incorrect Correct answer

Fragile X syndrome

Correct Incorrect Correct answer

Prader-Willi syndrome

Correct Incorrect Correct answer

Turner syndrome

Correct Incorrect Correct answer

Question 43 of 48

A couple has a child with Duchenne muscular dystrophy. What is the inheritance pattern of this disorder?

Autosomal dominant

Correct Incorrect Correct answer

Autosomal recessive

Correct Incorrect Correct answer

Mitochondrial

Correct Incorrect Correct answer

Variable penetrance

Correct Incorrect Correct answer

X-linked recessive

Correct Incorrect Correct answer

Question 44 of 48

During which part of mitosis is the mitotic spindle formed?

Anaphase

Correct Incorrect Correct answer

Metaphase

Correct Incorrect Correct answer

Prometaphase

Correct Incorrect Correct answer

Prophase

Correct Incorrect Correct answer

Telophase

Correct Incorrect Correct answer

Question 45 of 48

During which part of mitosis do sister chromatids separate into daughter chromosomes?

Anaphase

Correct Incorrect Correct answer

Metaphase

Correct Incorrect Correct answer

Prometaphase

Correct Incorrect Correct answer

Prophase

Correct Incorrect Correct answer

Telophase

Correct Incorrect Correct answer

Question 46 of 48

During which part of mitosis does the nuclear envelope reform?

Anaphase

Correct Incorrect Correct answer

Metaphase

Correct Incorrect Correct answer

Prometaphase

Correct Incorrect Correct answer

Prophase

Correct Incorrect Correct answer

Telophase

Correct Incorrect Correct answer

Question 47 of 48

What is the commonest genotype associated with a complete mole?

46 XX

Correct Incorrect Correct answer

46 XY

Correct Incorrect Correct answer

46 YY

Correct Incorrect Correct answer

69 XYY

Correct Incorrect Correct answer

69 XXY

Correct Incorrect Correct answer

Question 48 of 48

What is the commonest genotype associated with a partial mole?

46 XX

Correct Incorrect Correct answer

46 XY

Correct Incorrect Correct answer

46 YY

Correct Incorrect Correct answer

69 XXY

Correct Incorrect Correct answer

69 XYY

Correct Incorrect Correct answer

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MRCOG Part 1 – Genetics

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