- 1.
A woman presents with a Sertoli Leydig cell tumour of the ovary. She is also at risk of which of the following?
- a)
Adenoma malignum of the cervix
- b)
Wilm’s tumour
- c)
Pleuropulmonary blastoma
- d)
Hypothyroidism
- e)
Soft tissue Ewing sarcoma
- a)
- 2.
A woman presents with epithelial ovarian cancer and has a strong family history of breast cancer affecting men and women. Which of the following investigations and management may be appropriate?
- a)
Screening for germline mutations in BRCA1 and BRCA2
- b)
Assessing for microsatellite instability in the ovarian tumour
- c)
2-yearly colonoscopy surveillance
- d)
Offering bilateral salpingo-oopherectomy to reduce breast cancer risk
- e)
Annual CA125 level for first-degree female relatives
- a)
- 3.
Indicate whether the following statements on the chromosomal abnormalities of recurrent miscarriage are true or false:
- a)
The most common known cause of miscarriage between 12 and 22 weeks is fetal chromosomal error.
- b)
Balanced chromosome abnormalities are present in 2–4% of patients with recurrent miscarriage.
- c)
Parental karyotyping should be performed in all couples with recurrent miscarriage because the majority of miscarriages occur in chromosomally abnormal parents.
- d)
Trisomy 16 is the most common autosomal trisomy and is always lethal.
- e)
Chromosomal alterations mostly arise de novo due to non-disjunction errors during the first meiotic division of the oocyte related to advanced maternal age.
- a)
- 4.
Indicate whether the following is/are true or false in relation to miscarriage:
- a)
Miscarriage is a rare complication of pregnancy and a successful pregnancy only needs uterus and Fallopian tube integrity as well as good sperm quality.
- b)
Some autosomal disorders, such as myotonic dystrophy, lethal skeletal dysplasia, Ehler-Dahnlos disorder or sickle cell anemia, may predispose patients to infertility and recurrent miscarriage.
- c)
Current research is focused on finding genetic and epigenetic polymorphisms related mainly to immune response and inflammatory mediators to explain recurrent miscarriage.
- d)
The first results on genetic polymorphisms and their relationship with recurrent miscarriage was published in the 2000s.
- e)
An immune imbalance induced by T-helper T1/Th2/Th17 cytokines and regulatory T cells is the cause of 60% of recurrent miscarriages.
- a)
- 5.
Which of the following statements on genetic disorders is/are true?
- a)
Immune response polymorphisms, human leukocyte antigen-G (HLA-G), interleukin 6 (IL-6) and tumor necrosis factor (TNF) are the most extensively-studied molecules.
- b)
High serum levels of IL-4, IL-10 and TGF-β are widely demonstrated in partners affected by recurrent miscarriage.
- c)
VEGF is a signal protein that promotes nitric oxide degradation, impairing placental perfusion and interfering with correct implantation and development of the embryo.
- d)
The higher microRNA-16 (miRNA-16) expression in villi and deciduas of recurrent miscarriage patients seems to activate VEGF expression, thereby lowering the risk of abortion.
- e)
Annexin A5 contributes to placental integrity making a protective antithrombotic shield at the surface of placental syncytiotrophoblast.
- a)
- 6.
Indicate whether the following statements on the diagnosis of genetic abnormalities is/are true or false:
- a)
The gold standard test used to identify fetal chromosomal abnormalities is comparative genomic hybridization (CGH).
- b)
Molecular diagnosis techniques, such as CGH, fluorescent in situ hybridization (FISH) or polymerase chain reaction (PCR), can detect slight changes that cannot be detected by traditional techniques, and are able to detect abnormalities in cases where karyotyping has failed.
- c)
The preimplantation genetic diagnosis (PGD) application for couples affected by RM is extensively performed, although it adds little to improving outcome rates.
- d)
Current data show that parental genetic screening to detect chromosome abnormalities is justified to avoid recurrent miscarriage.
- e)
Genetic polymorphisms are used these days as blood non-invasive biomarkers in many hospitals, since they are an essential part of the management and diagnosis of recurrent miscarriage.
- a)
- 7.
After the detection of a chromosomal mosaicism in a chorionic villi sample the following follow up is recommended:
- a)
An amniocentesis to establish the fetal karyotype because the chromosomal mosaicism could be either restricted to the placental compartment only (CPM) or could be generalized also to fetal tissues (TFM)
- b)
Ultrasound examination only: in case of a normal U/S examination the abnormal cell line detected in the chorionic villi is certainly confined to the placenta (CPM)
- c)
Repeat the chorionic villi sampling because the detected chromosomal mosaicism is due to a technical contamination during cell culture
- d)
No further investigations are required because by definition a mosaic in CV is always confined to the placenta
- e)
cfDNA testing for common aneuploidies because it is a diagnostic confirmatory testing
- a)
- 8.
The following sentences about mosaicism in CV is/are true:
- a)
Among groups of chromosome abnormalities, autosomal trisomies are the most frequently detected but the less frequently confirmed
- b)
Among groups of chromosome abnormalities sex chromosome aneuploidies exhibit the highest TFM risk, of 33.5%
- c)
Supernumerary marker chromosomes exhibit the highest TFM risk, of 30.9%
- d)
Polyploid (tetraploid and triploid) karyotypes are always CPM; no TFM cases are reported
- e)
Unbalanced rearrangements are more represented than balanced ones as mosaic in CV but the TFM risk is the same, about 12%
- a)
- 9.
Which of the following sentences about cfDNA testing is/are true?
- a)
cfDNA testing is a screening tool
- b)
Pre-test cfDNA testing counselling should be performed disclosing the limits of the test including the possibility of detecting, in rare instances, a false negative result
- c)
If CVS is performed after a high risk cfDNA testing result, QF-PCR is the gold standard test because it can rapidly investigate the same aneuploidies targeted by cfDNA testing
- d)
If amniocentesis is performed after a high risk cfDNA testing result, QF-PCR is the gold standard test because it can rapidly investigate the same aneuploidies targeted by cfDNA testing
- e)
If, after a high risk cfDNA testing result the woman is considering CVS as a confirmatory procedure, the risk of detecting a mosaic in CV should be disclosed, which is 2% for all chromosomes.
- a)
- 10.
What is/are recognised advantages of SNP arrays in comparison to BAC arrays in the prenatal setting?
- a)
High resolution for VOUS
- b)
Higher resolution for pathogenic CNVs
- c)
SNP arrays can detect regions of homozygosity
- d)
SNP arrays can detect triploidies
- e)
Only SNP arrays can be applied in both, singleton and twin pregnancies
- a)
- 11.
In the presence of a nuchal translucency of 3.6 mm, ventricle septum defect and oligohydramnios at the week 14 ultrasound examination, which of the following test(s) is/are recommended?
- a)
NIPT (non invasive prenatal testing)
- b)
Conventional karyotyping
- c)
Molecular karyotyping/chromosomal microarray (CMA)
- d)
Sub-telomeric screening by multiple ligation probe amplification (MLPA)
- e)
QF-PCR for the detection of the most common aneuploidies
- a)
- 12.
What is/are the disadvantages of molecular karyotyping/chromosomal microarray in comparison to conventional karyotyping?
- a)
It has a higher resolution
- b)
It has a lower resolution
- c)
It cannot detect balanced rearrangements
- d)
It is not genome-wide
- e)
It works on uncultured material
- a)
- 13.
You find a CNV of 550 Kb in the 15q11.2 (NIPA1 and NIPA2 region). How would you define such a finding?
- a)
As pathogenic
- b)
As VISL
- c)
As VOUS
- d)
As late onset disease
- e)
As normal
- a)
- 14.
The following statement(s) is/are true regarding cell-free DNA (cfDNA)?
- a)
cfDNA are small fragments of extracellular DNA that circulate in the bloodstream
- b)
100% of cfDNA in maternal plasma is placental in origin
- c)
Fetal cfDNA continues to be detected in the maternal bloodstream for several years after birth
- d)
cfDNA of fetal origin in the maternal plasma originates from the trophoblast
- e)
cfDNA of fetal origin can only be detected in maternal plasma from 12 weeks of gestation
- a)
- 15.
Regarding NIPT techniques for trisomy detection, which statement(s) is/are true?
- a)
Massively parallel sequencing can provide information across the whole genome whereas targeted and SNP-based techniques provide no “off target” information
- b)
A SNP is a DNA sequence variation where a single nucleotide is different between members of the same species in a given stretch of DNA
- c)
SNP-based NIPT is suitable for twin pregnancies and egg donor pregnancies
- d)
SNP-based NIPT can detect triploidy
- e)
Test failure rates are identical for all NIPT methods
- a)
- 16.
Regarding the clinical performance of NIPT, which statement(s) is/are true?
- a)
The pooled sensitivity of NIPT for trisomy 21 is >99%, and for trisomies 18 and 13 > 97%.
- b)
The false positive rate of NIPT increases with the number of chromosomes assessed
- c)
The sensitivity and specificity of a test depend on the population prevalence of disease
- d)
The positive predictive value of NIPT for the common aneuploidies outperforms traditional screening methods in both low and high risk populations
- e)
There are no false negatives for the common autosomal trisomies.
- a)
- 17.
In which of the following situations is NIPT not the preferred test?
- a)
When the couple decline an aneuploidy risk assessment
- b)
When the couple desire diagnostic information
- c)
When no prior ultrasound has been performed
- d)
In the presence of a fetal structural abnormality
- e)
When the nuchal translucency is >/ = to 3.5mm
- a)
- 18.
Recommendations for women with Marfan syndrome in pregnancy include which of the following?
- a)
MRI spine to evaluate for vertebral column abnormalities each trimester due to increasing lumbar lordosis as pregnancy progresses
- b)
Use of beta-adrenergic blockers regardless of whether the patient is normotensive
- c)
Delivery by Caesarean section for all affected patients
- d)
Delivery by Caesarean section for women with an aortic root diameter of 45mm
- e)
Placement of prophylactic cervical cerclage in the first trimester
- a)
- 19.
Cardiac disease in those affected with Turner syndrome include which of the following:
- a)
Risk for aortic dissection when aortic diameter is 40 mm or more.
- b)
None because those who survive fetal life do not have significant cardiac disease
- c)
Structural defects including bicuspid aortic valve
- d)
Structural defects including coarctation of the aorta
- e)
Increased risk for hypotension and arrhythmia
- a)
- 20.
The following statement(s) is/are true regarding ultrasound markers?
- a)
Ventriculomegaly is caused by obstruction at the cerebrospinal (CSF) fluid pathway, central nervous system (CNS) malformations, brain destruction or overproduction of CSF.
- b)
Unilateral ventriculomegaly is typical of CNS malformations.
- c)
The main differentiating feature between congenital pulmonary airway malformation (CPAM) and bronchopulmonary sequestration (BPS) is that all CPAM have a systemic vascular supply.
- d)
80% of congenital diaphragmatic hernia (CDH) occurs on the right side.
- e)
There is unlikely to be karyotype abnormality in cases with isolated cleft lip and palate.
- a)
- 21.
The following is/are recognised causes of ventriculomegaly:
- a)
Congenital infection with Toxoplasmosis
- b)
Congenital infection with CMV
- c)
Vascular developmental abnormalities
- d)
Choroid plexus papilloma
- e)
Mechanical insults
- a)
- 22.
Which of the following statements is/are true regarding fetal ultrasound findings?
- a)
Exomphalos occurs due to failure of the herniated bowel to return to the abdominal cavity by 14 weeks gestation.
- b)
Gastrochisis is associated with chromosomal abnormality.
- c)
Bilateral renal agenesis is a lethal condition and death occurs primarily from pulmonary hypoplasia.
- d)
Achondroplasia can be detected in the 1 st trimester scan.
- e)
Congenital talipes equinovarus (CTEV) is abnormality in the development of the foot.
- a)
- 23.
Which of these following genetic syndromes are correctly linked with the prenatal ultrasound features:
- a)
Edward syndrome: strawberry shaped head, exomphalos, clenched hands, cardiac defects, rocker bottom feet, intrauterine growth restriction and polyhydramnios.
- b)
DiGeorge syndrome: cardiac defects, thymus aplasia, cleft palate.
- c)
Beckwith – Weidemann syndrome: clover leaf shaped skull, short long bones, narrow thorax and short ribs, polyhydramnios.
- d)
Turner syndrome: cystic hygroma, nuchal oedema, hypoplastic left heart, coarctation of aorta, short femur, non-immune hydrops fetalis.
- e)
Meckel Gruber syndrome: severe early onset IUGR affecting the skeleton more than the head, small thin placenta.
- a)
- 24.
A 26-year-old woman, who is well and has a healthy 3-year-old son, attends an appointment with her general practitioner and asks for advice on the use of folic acid supplements in relation to the risk of neural tube defects in a future pregnancy.
Which of the following statements on folic acid supplementation is appropriate advice to be given to this woman at this stage?
- a)
Appropriate supplementation prevents a large proportion of neural tube defects
- b)
She should start taking 0.4 mg on a daily basis as soon as the pregnancy is confirmed
- c)
She should take 0.4 mg daily starting at least a month before conception and throughout the first trimester of pregnancy
- d)
There is no need to take supplements as her son does not have a neural tube defect
- e)
The risk of neural tube defects is eliminated by appropriate supplementation
- 25.
A nulliparous 25-year-old woman, who is known to be a carrier for cystic fibrosis, and her unrelated, healthy 28-year-old husband attend an obstetric appointment to discuss genetic risks.
Which of the following statements would be appropriate at this stage in relation to the risk of children being affected by cystic fibrosis in future pregnancies?
- a)
The husband’s family history is not relevant to this risk
- b)
If they have an affected child, subsequent pregnancies will have a 1 in 4 risk
- c)
There is no risk as the woman is unaffected by cystic fibrosis
- d)
The risk can be modified by genetic testing of the husband
- e)
The risk is related to the carrier frequency for cystic fibrosis in the specific population
- 26.
The following is/are true regarding neural tube defects?
- a)
Women with a previously affected child should take the recommended daily dose of 400mcg
- b)
Neural tube defects have a multifactorial aetiology combining both environmental and genetic elements
- c)
They demonstrate a significant recurrence risk which correlates with the number of affected siblings
- d)
Cases that occur despite the recommended folic acid implementation are considered as folate-independent cases
- e)
The vitamin–like inositol has received significant attention in terms of an alternative prevention strategy
- a)
- 27.
Folic acid has been shown to reduce the risk of which of the following in addition to NTDs?
- a)
Congenital diaphragmatic hernia
- b)
Congenital heart defects
- c)
Congenital microcephaly
- d)
Thanatophoric dwarfism
- e)
Hypospadias
- a)
- 28.
The rates of folic acid supplementation are recognised to be positively associated with which of the following?
- a)
Unplanned pregnancy
- b)
Lack of counselling availability
- c)
Actual attendance at pre-natal counselling
- d)
Higher maternal age
- e)
Higher level of education
- a)
- 29.
Which of the following is/are important areas to cover in relation to genetic prenatal counselling in order to try and assess the risk of a genetic problem in a future pregnancy?
- a)
Previous birth of an affected child
- b)
Previous recurrent pregnancy losses
- c)
Previous children born with congenital anomalies
- d)
Ethnic background of the prospective parents
- e)
The possibility of consanguinity
- a)
- 30.
Which of the following conditions are known to be autosomal recessive?
- a)
Cystic fibrosis
- b)
Sickle cell disease
- c)
Thalassaemia
- d)
Tay Sachs disease
- e)
Haemophilia A
- a)
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