MRCOG part 1 Data interpretation

Data interpretation
For MRCOG part1

Acid base balance

 Acid base balance: look at pH, PCO2 & HCO3

 Metabolic acidosis: the three values are decreased.
 Metabolic alkalosis: the three values are increased.
 Respiratory acidosis: pH is decreased, PCO2 & HCO3 are increased.
 Respiratory alkalosis: pH is increased, PCO2 & HCO3 are decreased.
Normal pH = 7.35-7.45, PCO2 = 33-44 mmHg, HCO3 = 22-26 mEq/L. Anion gap = 8 – 12

For interpretation of these cases, we follow these steps:

Step 1: Acidemic, alkalemic, or normal?
Step 2: Is the primary disturbance respiratory or metabolic?
Step 3: For a primary respiratory disturbance, is it acute or chronic?
Step 4: For a metabolic disturbance, is the respiratory system compensating OK?
Step 5: For a metabolic acidosis, is there an increased anion gap?
NB: metabolic acidosis with normal anion gap occurs in diarrhea, renal tubal acidosis &
hyperchloremia.
Step 6: For an increased anion gap metabolic acidosis, are there other derangements?

Prenatal genetic diagnosis

 Down syndrome:
- First trimester combined screening (10-14 weeks): This is usually done in high risk
patients. It combines:
1- Ultrasound: nuchal translucency (> 3mm).
2- Serum levels of two markers: pregnancy-associated plasma protein-A (PAPP-A) and
free beta-hCG.

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The detection rate is approximately 75% and the false positive rate is about 5%. If the risk
is increased  chorionic villus sampling.
- Second trimester integrated screening (15-18 weeks): It combines:
1- Ultrasound: nuchal translucency (> 5 mm).
2- Serum levels of one marker: pregnancy-associated plasma protein-A (PAPP-A)
3- Quadruple test: AFP (decrease), esteriol (decrease), inhibin (increase), beta-hCG
(increase).
The integrated screen has the highest available detection rate (85%) and lowest false
positive rate (1-3%)  if risk is increased  amniocentesis.
Nucheal translucency alone or serum markers alone have only 60-75% detection rate.

 Cystic fibrosis:
Screening is indicated in the following:
1. Parents who already have a child diagnosed with CF (1:4 chance).
2. Parents identified as carriers of CF causing mutations.
3. When a foetus is identified as having an echogenic bowel (in antenatal ultrasound)
The following will be done:
- Chorionic villous sampling (if early) or amniocentesis (if late).
- PCR analysis.

 Cordocentesis (fetal blood sampling):

It can be used in:
- Diagnosis of chromosomal abnormalities.
- Diagnosis of fetal anaemia (Rh isoimmunization).
- Diagnosis of fetal infection (TORCH).
- Diagnosis of blood abnormalities (Hemophilia).

 Fetoscopy:
The most common reasons why a fetoscopy may be required are:
- Evaluate the fetus for birth defects, such as spina bifida and other external defects.
- To collect samples of blood from the umbilical cord for genetic diagnosis such as
hemophilia or sickle cell anemia
- Collect samples of skin tissue. The tissue can be tested for some inherited diseases

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 Antenatal ultrasound screening:

- Screening for nuchal translucency: 11-13 weeks.
- Fetal echocardiography: 18-22 weeks

 Biochemical markers:
AFP increases in NTDs and decreases in Down syndrome. Timing is 16-18 weeks.

Neonatal screening

 Guthrie test:
The test generally refers to heel sampling that is then tested with different techniques.
 Indications:
− Phenylketonuria
− Congenital hypothyroidism
− Sickle Cell disorders
− Cystic fibrosis
 Interpretation:
− If the results of the screening test reveal very high levels of a substance called
immunoreactive trypsin (IRT), CF is suspected and the DNA in the blood is then analysed
for the most common mutation-causing CF (Screen for known gene mutation).
− A sweat test may be done to measure the amount of salt (sodium chloride) in the sweat
and confirm the diagnosis.
 Tandem mass spectrometry: more recent method for metabolic disorders (phenylketonuria
and hypothyroidism) but cystic fibrosis is not yet evident.

Other non-relevant genetic tests

 FISH test: brilliant points to know about FISH:

 The sample can be taken from blood, amniocytes or a chorionic villi sample.
 FISH test identifies chromosomes in the interphase. The advantage of this criterion is that it
does not need chromosomal culture (needs 7-10 days) and it only needs 12 hours for

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hybridization to complete. This means that the main advantage is the rapidity of the test so
it is suitable for pre-implantation genetic diagnosis.
 FISH probe identifies chromosomes, so it can give idea about their number (saves time for
karyotyping) but cannot identify its structure. So it is used to diagnose aneuploidy e.g.
Down syndrome.

 Telomere Analysis
This test is a unique diagnostic tool because it measures an individual's relative state of health
in comparison to others in the same age group (telomeres are terminal parts of the
chromosomes and are progressively taken up indicating aging).

 The DNA Linkage Test:

 What happens in a linkage test is this: When there is no way to detect the "target" gene
directly, a known region of DNA located close to the target gene can be used as a "marker"
for the target gene. By following the marker, predictions about the actual state of the
nearby target gene can be made.
 Linkage tests can often be used in situations in which a direct DNA test cannot be done.
Examples: Alzheimer, inflammatory bowel disease

Screening for gestational diabetes

(glucose tolerance test)
 Indications:
 Suggested obstetric history: previous IUFD, macrosomic babies, obstructed labour.
 Family history in identical twins or first degree relatives.
 Maternal obesity.
 Procedure: 75 gm in 300ml water is given after 10 hours fasting, blood sampling is done
(blood level is about 20 less than plasma):
 Fasting: < 105 mg/dl in serum.
 1-hour: < 190 mg/dl.
 2-hour: < 165 mg/dl.
 3-hours: < 145 mg/dl.
2 abnormal readings = GDM.
NB: glycosylated HB is abnormal if > 10% in early pregnancy & > 8% in late pregnancy.

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Antenatal fetal assessment

 Non-stress test: 28-32 weeks, mean time of the test is 40 minutes, the test is reactive if the
heart rate is average (110-160) with good variability (> 5) and 2 or more accelerations with 2
fetal movements of at least 15 beats lasting for 15 seconds in 20 min monitoring.
 If reactive  continue follow up once or twice weekly (FN results are only 4:1000).
 If not  FP results are 40% so go for contraction stress test or biophysical profile to
confirm.

 Contraction stress test (with oxytocin given – 3 contractions in 10 minutes):

The test is considered positive if late decelerations appear in more than 50% of contractions.
 If negative  the test can be repeated weekly (FN results are only 0.4:1000).
 If positive  FP results are 50% so go for biophysical profile to confirm.

 Biophysical profile:

If the score is 8-10: normal, repeated once or twice weekly in diabetics.

If the score is 6: equivocal, terminate if the fetus is mature or repeat after 1 dat.
If 4 or less: terminate in all cases.

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Intra-partum fetal monitoring

 CTG (cardiotocogram):
The following criteria may indicate abnormal acid base balance and necessitates fetal scalp sampling:

 Sinusoidal pattern OR

 Absent variability with recurrent late decelerations, recurrent variable decelerations or

bradycardia.

Other abnormalities only need continuous monitoring and fetal resuscitation (fluids, patient
tilting). No need for fetal scalp sampling.

 Fetal scalp blood sampling (25 μg):

Findings Interpretation
Normal pH: 7.25-7.35 (mean 7.33) If Scalp pH ≥ 7.25 and FHT remains non-
pCO2: 40-50 mmHg reassuring:
pO2: 20-30 mmHg  Continue to observe labor
Base excess: < 10  Repeat scalp sampling every 2-3 hours
Non-reassuring pH <7.20  Scalp pH ≥ 7.20 and FHT remains non-
findings Base Excess < -12 mmol/liter reassuring  Repeat Scalp sample in
 Metabolic Acidosis: pH 15-30 minutes
<7.25 - PCO2: 45-55 mmHg -  Scalp pH < 7.20
Base excess > 10. − Repeat Scalp sample immediately
 Respiratory Acidosis: pH − If no change in pH then immediate
<7.25 - pCO2 > 50 mmHg – delivery
Base excess < 10.
False positive rate if scalp pH <7.20 = <20%

Infertility

 Semen analysis: (WHO – 2010)

Parameter Normal
Physical criteria Volume = 1-6.5 ml, liquefaction within 30 minutes. PH = 7.1-8
Sperm count > 15 million/milliliter (39 million per ejaculate)

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Viability 60% viable

Motility 50% within 60 minutes of collection
Abnormal forms 4% (or 5th centile) or more have normal morphology.

 Postcoital test (12 hours after intercourse):

 Normal  more than 5 sperms with progressive motion in high power field.

 Inconclusive  1-5 sperms only.

 Abnormal  no sperms, agglutinated sperms, immobile sperms.

 Mid-luteal serum progesterone: < 3 ng/ml = no ovulation, 3-10 suggests LPD, > 10 =
ovulation.

 Ovulation monitoring: the mature follicle reaches 18-22mm before ovulation, ovulation is
indicated by shrinkage and festooning of the follicle with small free fluid in DP.

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Endoscopic surgeries

Laparoscopy Hysteroscopy
Distension media CO2 CO2 (risk of arrhythmia): in
diagnosis only, not commonly
used.
HMW fluids: dextran  risk of
adult respiratory distress
syndrome.
LMW fluids: saline  volume
overload (not suitable for
diathermy, only laser).
Complications Complications occur in 1-5% Perforation (0.8%)
(according to either it is Hemorrhage (1 - 2.5%)
diagnostic or advanced):
- Large vessel injury.
- Bowel injury.
- Bladder injury.

Miscellaneous

 Degrees of pernieal tear:

laceration is limited to the fourchette and superficial perineal skin or vaginal

First degree tear
mucosa

Second degree laceration extends beyond fourchette, perineal skin and vaginal mucosa to

tear perineal muscles and fascia, but not the anal sphincter

fourchette, perineal skin, vaginal mucosa, muscles, and anal sphincter are torn:
Third degree  3a: partial tear of the external anal sphincter involving less than 50% thickness

tear  3b: greater than 50% tear of the external anal sphincter

 3c: internal sphincter is torn

Fourth degree fourchette, perineal skin, vaginal mucosa, muscles, anal sphincter, and rectal

tear mucosa are torn

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 Evidence based medicine:

 Management of ectopic pregnancy:

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 Gynecologic cancers:

Type Incidence Survival rates

Vulvar cancer 4% of all malignant lesions in the genital
tract. The incidence is 3 per 100,000. The
commonest age incidence is 60-70 years.
Vaginal cancer 1% of genital malignancies. The commonest
age is 60-80 years.
CIN 200 per 100.000 females per year. Average
age is 35
The 5-year survival rate is
80-90% for stage I & II (and
half that for advanced
malignancy)
The 5-year survival rate for
stage I is about 70%
May progress to invasive
carcinoma (CIN I 15%, CIN II
25%, CIN III 50%).

Cervical 9 per 100,000 females per year. The 80-90% if discovered in stage
cancer commonest age incidence is 45-55 years I
Endometrial It is 25 per 100.000 females per year at the 85-90% in stage I
cancer age of 50 years.
(most common) Uterine sarcoma is 4% of uterine
malignancy.
Ovarian 2% lifelong risk. 21 cases for every 100,000 80-90% for stage 1 (rarely
cancer women discovered early)
15-30% for stage 3 & 5-10%
for stage 4
Breast cancer It is 100-150 per 100.000 females per year. 83-88%
This increases with age. 10% lifelong risk

 Apgar score:

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 Bishop score:

 Add 1 for: preeclampsia, each prior vaginal delivery.

 Subtract 1 for: postdates, 1st pregnancy, premature or prolonged rupture of membranes.
The score is 0-5  unfavourable, >5  favourable. Success of induction is predictable if > 8.

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