OBGYN Conference

R1 Atikarn
R3 Pholasith Laoruengrong
Ruchirot
Patient Profile
Case Female 32 years old G1P0A0
GA 7+2 week by LMP
Occupation: Seller
Location: Bangkok
Health coverage: Social security at Lerdsin
hospital
CC: Appointed for her first ANC
Present Illness
The patient came to her first ANC as appointed today. She
denied any abnormal discharge, abnormal bleeding, no
abdominal pain. She had no nausea and vomiting, no fever.
Past History
• No underlying disease
• No allergy to drugs/food
• No past history of surgery
Past History
• No current medication
• No herbal drug use / drug abuse
• No smoking/alcohol drinking
Family History
• No family history of hypertension/DM
• No family history of genetic abnormalities
Family tree
Patient Patient’s Husband

Affected individual
OBGYN History
● G1P0A0 GA 5 week by LMP
● LMP :UCD
● Menstrual period: D 5 days, I 30 days, amount 3 pad/day, mild
dysmenorrhea
● No Assisted reproductive technology was used
● EDC: 14/08/2566 by LMP
● Contraception: none
 GA 7+2week at clinic
Date GA BW Urine BP Fundal Position FHR
(w (Kg) protein/ (mmHg height (bpm
k) sugar ) )
28/12/65 7+2 62 -/- 94/69 - - +

Management:
• Lab 1
• Dimenhydrinate, Vitamin B6 , Folic
Lab 1 28/12/65
Serology
Lab 1 Anti-HIV neg
Blood group O HBsAg neg
Rh group positive VDRL Nonreactive
DCIP Positive
MCV 67
Hct 35
 GA 11+6 week at clinic
Date GA BW Urine BP Fundal Position FHR
(wk) (Kg) protein/ (mmHg) height (bpm)
sugar

29/1/66 11+6 62 -/- 104/63 - - +

Management:
• TAS confirm date
• Advice
• F/U 4 week
TAS ( 29/1/66):
SVF,IUP,CRL 4.48 cm,
FHR +
 GA 15+6 week at clinic
Date GA BW Urine BP Fundal Position FHR
(wk) (Kg) protein/ (mmHg) height (bpm)
sugar

26/2/66 15+6 63 -/- 96/63 - - +

Management:
• 50GCT =142
• F/U 4 week + 100gOGTT
• DT1
GA 19+6 week at clinic
Date GA BW Urine BP Fundal Position FHR
(wk) (Kg) protein/ (mm height (bpm)
sugar Hg)
26/3/66 19+6 64.4 -/- 88/5 At - +
7 umbilicus

Management:
• 100gOGTT= 78,117,103,107
• Advice
• F/u 2 week
GA 21+5 week
Date GA BW Urine BP Fundal Position FHR
(wk) (Kg) protein/ (mm height (bpm)
sugar Hg)
9/4/66 21+6 64.7 -/- 96/5 At - +
7 umbilicus

Management:
• TAS anomaly seen absent stomach
• F/U ultrasound at CKHP
GA 21+6 week
Date GA BW Urine BP Fundal Position FHR
(wk) (Kg) protein/ (mm height (bpm)
sugar Hg)
10/4/66 21+6 64.7 -/- 111/ At - +
65 umbilicus

Management:
• TAS confirm anomaly
• Amniocentesis
• Counselling
TAS Anomaly ( 10/4/66):
SVF, Cephalic, EFW 363g, DVP 4.6 cm , 3 vessel
umbilical cord , placenta posterior
● No stomach was visualized

● No other anomalies seen

● No esophageal pouch

● Cervical length 40.2 mm

Problem
G1P0 GA 21+6 week with
List
●

isolated absent stomach

 1. Esophageal atresia
Differential 2. Tracheoesophageal
fistula
Diagnosis 3. Congenital
diaphragmatic hernia
4. Fetal neuromuscular
disorders
Management
?
Management
• Amniocentesis with Microarray testing
• Fetal echocardiogram
• Serial ultrasound examinations to monitor fetal
growth, amniotic fluid and hydrops fetalis
• Fetal non stress/BPP twice weekly at GA 32-34
week
• Consultation with prenatal neonatology and
pediatric surgery if continue pregnancy
Amniocentesis and Micrroarray
• Amniocentesis: 46 XX, normal female
karyotype
• Microarray:
• Arr{GRCh38}
1p36.33p36.32(914,087_3,429,784)x1
• 1p3.6 deletion syndrome
Imp: G1P0 GA 24 week
with 1p3.6 deletion
syndrome
Management
• Counselling prognosis, risk and incidence of
deletion syndrome
• Counselling on pregnancy
• Continue/termination of pregnancy
Admission 24/4/66 (14.00)
• CBC, Anti-HIV
• Cytotec (200) 2 tab sublingual q 3hr
• Observe clinical, if pain score >4
please notify
• NPO
• 5% DN/2 1000 iv rate 100 ml/hr
• Paracetamol (500) 1 tab po prn 1 4-6
hr
Admission at OB ward

• Termination of pregnancy at 15:25 pm

( 25/4/66)
• Delivery of placenta at 15:25 pm
Findings
• Single fetus, female 500g
• Skull collapsed
• Nasal bone present, ear pinna both side normal
• No cleft lip, cleft palate
• Normal extremities
• Fingers and foot all present
• No hepatosplenomegaly palpated
• No spina bifida, no lesion at back
• Female genitalia, patent anus
• Skin desquamation 25%
• Complete placenta, central insertion of cord, A:V
2:1
Progress note
• Evaluate bleeding after termination 
• PV: Minimal blood oozing 20 ml in vagina,
no active bleeding, no conceptus per os ,
no tear
• Uterus 142 x 82 x 77mm, enlarged ,
homogenous endometrium , endometrium
thickness 17.9 mm, ROV,LOV not
visualized
• Suspect complete abortion
Uterus 142 x 82 x 77mm, enlarged , homogenous
endometrium , endometrium thickness 17.9 mm,
ROV,LOV not visualised
Progress note

• Observe at ward until 26/4/66

• Pain control and IV was given
• Patient was discharged with minimal
bleeding , no abdominal pain, no fever
• Advice contraception : plan OCP
Management of next pregnancy
• Advice early antenatal care
• Advice folic acid intake 4000 μg (4.0 mg)
of folic acid daily starting at least 1 month
and preferably 3 months before
conception.
• Advice prenatal screening
 Counselling About Genetic Testing
and Communication of Genetic Test
Results
Recommendations
1. Pretest counseling includes potential results,
risks, limitations, benefits, and option to
decline testing after counseling
2. Pretest and posttest counseling in clear,
objective, and nondirective fashion
3. Results should be communicated in timely
manner
Recommendations
4. Strongly encouraged to share results with
affected or at-risk family members if clinically
significant mutations with heritable potential
5. Referral to genetic counselor, maternal-fetal
specialist, or other genetics specialist if not have
necessary knowledge or expertise in genetics to
counsel a patient
Pretest Considerations
• All women be offered prenatal screening for
aneuploidy
• Develop protocols to standardize practice of
offering prenatal screening test for
aneuploidy and carrier screening for genetic
conditions
• Pretest counseling includes types of potential
results, risks, limitations, and benefits
Pretest Considerations
• Option to decline any or all testing after
counseling
• Pretest and posttest counseling done in clear,
objective, and non-directive fashion, allowing
patients sufficient time to understand
information and make informed decisions
• Discussion of sensitivity and specificity of test
for each of disorders
Pretest Considerations
• Inform meaning of positive, negative, or
indeterminate test results
• Stressing positive predictive value and need
for follow-up diagnostic testing
• Additional discussion will be needed during
posttest counseling
Pretest Considerations
• Inform meaning of positive, negative, or
indeterminate test results
• Stressing positive predictive value and need
for follow-up diagnostic testing
• Additional discussion will be needed during
posttest counseling
Potential Risks
• Nonparternity
• Parental consanguinity
• Potential medical and psychological
consequences from the results

Ethical principles: autonomy, beneficence,

nonmaleficence
Posttest Considerations
• Timely communication: potential to limit
diagnostic and management options
• Policy of “no news is good news” is not
consistent
• No data about anxiety to determine whether
delivering results in person or over the
telephone
Posttest Considerations
• Results should be delivered clearly,
objectively, and in nondirective manner
• Discuss significance of result, description of
diagnosis, prognosis, and options for further
evaluation and management
• Discussion of result and residual risk in
negative screening test result
Posttest Considerations
Posttest Considerations
• Prepare to discuss management options
including termination of pregnancy, adoption,
neonatal palliative care, or prenatal surgery
• Additional resources for information and
support alleviate anxiety
• Family members of carrier of genetic disease
are at risk of carrying same mutation
Posttest Considerations
• Risk for family member to have affected
offspring
• Encouraged to share the results with affected
or at risk family member if clinically mutation
with inheritable potential
Genetic Counselling
• Every pregnancy has a risk for genetic
abnormality and review that this risk
increases with increasing age
• Review family history of birth defects, genetic
diagnoses in the family, etc. prior to
discussion
Genetic Counselling
• Review options for genetic screening for
patients
• Screening and diagnostic testing should be
discussed and offered to all patients early in
pregnancy regardless of maternal age or
baseline risk
 Genetic Counselling
• Preconception PGT/PGS

• Prenatal genetic Screening and testing during

testing pregnancy

• After prenatal genetic

testing
Genetic Counselling
1. Information gathering
2. Preparation
3. Knowledge of disease
4. Information about the test
5. Counselling after the result
Information Gathering
1. Rights of treatment
2. Obstetrical history
3. Familial history
4. Risk of pregnancy and genetic diseases
5. Golden child
6. Information of genetic diseases
7. Sonographic associated findings
Information of Genetic Diseases

Google Bioinformatics tools

Information of Genetic Diseases

Bioinformatics tools
Preparation
1. Find a quiet space to sit down
2. Silence phones
3. Make sure that all the people who need to be
present are assembled
4. Introduce yourselves
5. Call ‘the patient’
6. Target the information and follow-up plan
Knowledge of Diseases
1. Overview and significance of the disease
2. Etiology: inheritance, de novo
3. Incidence
4. Sequelae and prognosis (individualized)
5. Treatment plan
Breaking Bad News
Setting up
Patient perception
Invitation of bad news
Knowledge
Emotion
 Thanks!
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