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• Rate of Miscarriage Following Chorionic Villus Sampling on 315 for Prenatal Diagnosis of Thalassaemia
1. Rate of Miscarriage Following Chorionic Villus Sampling on 315 for Prenatal Diagnosis of ThalassemiaRate of Miscarriage Following Chorionic Villus Sampling on 315 for Prenatal Diagnosis of Thalassemia in Kolkatain Kolkata
Sujoy DasguptaSujoy Dasgupta11, Kanchan Mukherjee, Kanchan Mukherjee22, Kalyansree Chaudhuri, Kalyansree Chaudhuri33
1 Senior Resident, Chittaranjan National Cancer Institute (CNCI), Kolkata
2 Corresponding Author (mukherjee.kanchan@gmail.com)
3 Assistant Professor, Burdwan Medical College, Burdwan
INTRODUCTIONINTRODUCTION
• Thalassaemia- Most common congenital
haemolytic anaemia in India
• Every year 10,000 thalassaemic babies are born in
India
• Huge socio-economic burden
• Only way of prevention- Prenatal diagnosis
• Chorionic Villus Sampling (CVS) provides early
prenatal diagnosis
• Commonest indication of CVS in India- Prenatal
diagnosis of Thalassaemia1
AIMS AND OBJECTIVESAIMS AND OBJECTIVES
• To assess the miscarriage rates following
transabdominal CVS for women carrying singleton
pregnancy
• To assess other complications,if any
• To assess its effect on pregnancy outcome with
special reference to congenital anomalies
MATERIALS AND METHODSMATERIALS AND METHODS
SETTINGSETTING
A diagnostic centre in Kolkata
STUDY PERIODSTUDY PERIOD
2 years (Aug 2011- Jul 2013)
STUDY DESIGNSTUDY DESIGN
Retrospective Longitudinal Study
INCLUSION CRITERIAINCLUSION CRITERIA
Previous baby affected with Thalassaemia Major
Both parents Thalassaemia carriers
EXCLUSION CRITERIAEXCLUSION CRITERIA
Multiple pregnancy, Bleeding diathesis & Gestation > 20 weeks
STUDY METHODOLOGYSTUDY METHODOLOGY
Written Informed Consent from all participants
Trans-abdominal CVS under direct US guidance
with local anaesthesia taking strict aseptic precautions
by a single operator
Discharged immediately with broad spectrum antibiotics for 5 days
Direct Questionnaire at >3 months post-procedure re
vaginal loss, miscarriage, fetal affection,
preterm labour, limb reduction and missed diagnosis
RESULTSRESULTS
0 50 100 150 200 250 300 350
Total No of CVS Performed
CVS for Thalassaemia
Nos Lost in Follow Up
Number of Women Followed
Up
Total Number of CVS
320
315
56
259
Number of Women
Demographic Variables (n = 315)Demographic Variables (n = 315)
Procedural details (n = 315)Procedural details (n = 315)
Mean + SD
Age (yrs) 25.2 + 1.7
Parity 1.3 + 0.7
Gestational Age (wks) 12.4 + 2.8
No of
Punctures
Single 313 99.37%
Double 2 0.63%
Placenta
Anterior 153 48.57%
Posterior/
Lateral
162 51.43%
Blood
Group
Positive 306 97.14%
Negative 09 2.86%
INDICATIONS OF CVS ( n- 315)
264
84%
51
16%
Previous baby Thal Major
No previous H/O Thal Major
baby (parents Thal carrier)
RESULTS OF CVS (n= 259)
Thal major
53
20%
Thal trait
58
22%
Normal
148
58%
0 1 2 3
Miscarriage (0.39%)
Leakage of Liquor (0.78%)
Preterm Labour (0.78%)
Congenital Anomaly (Nil)
COMPLICATIONS OF
CVS (n= 259)
1
2
2
Number of Women
OUTCOME OF PREGNANCY (n= 259)
53
1
185
20 Termination due to Thal affected baby (20%)
Miscarriage (0.4%)- within 6 days of CVS
Delivery of Live Baby (71%)
Continuing pregnancy >24 wk(7%)
0 20 40 60 80 100 120 140 160 180 200
Total No of Delivery
Baby Not living (1%)
Thal Status Checked (40%)
Thal Status Not Checked (58%)
POST-DELIVERY STATUS (n= 185)
185
2
75
108
Corroboration of postnatal Hb Electrophoresis with
CVS results- 75/75 = 100%
DiscussionDiscussion
• Most common indication of CVS in our study is prenatal
diagnosis of thalassemia- similar to studies by Choudry et
al, 20122
• Sampling success rate was 100% in our study (99.7% as
per Williams J 3rd et al, 1992)3
• In 99.37% cases, there was single needle insertion,
consistent with other studies3
• Fetal loss rate in our study was 0.32%, matches with data
published in the literature (0.7%-1.65%)1,4,5
• The low miscarriage rate is explained by the theory that
placenta is a spongy organ, capable of easy expansion after
the procedure, allowing early healing6
• Minor complications (like leakage of fluid) occurred in
0.64% cases consistent with other studies1
• No congenital anomaly was reported in our cohort
ConclusionsConclusions
• CVS has the advantage of making early prenatal diagnosis of
hereditary haemolytic anaemia
• Allows the option of early termination of pregnancy if
required
• The procedure is simple, safe, low cost and can be done at
the ultrasonography clinic without inpatient admission
ReferencesReferences
1. Laksanavilai U, Piyamongkol W, Sirichotiyakul S, Tongprasert F, Leuwan
S, Srisupundit K. Chorionic villous sampling: experience of 636 cases. J
Med Assoc Thai. 2013 Apr;96(4):383-8
2. Choudry A, Masood S, Ahmed S. Feasibility and safety of transabdominal
Chorionic Villus Sampling. J Ayub Med Coll Abbottabad. 2012 Jan-
Mar;24(1):38-43
3. Williams J 3rd, Wang BB, Rubin CH, Aiken-Hunting D. Chorionic villus
sampling: experience with 3016 cases performed by a single operator. Obstet
Gynecol. 1992 Dec;80(6):1023-9
4. Mujezinovic F, Alfirevic Z. Procedure-related complications of
amniocentesis and chorionic villous sampling: a systematic review. Obstet
Gynecol. 2007 Sep;110(3):687-94
5. Scott F, Peters H, Boogert T, Robertson R, Anderson J, McLennan A, Kesby
G, Edelman D. The loss rates for invasive prenatal testing in a specialised
obstetric ultrasound practice. Aust N Z J Obstet Gynaecol. 2002
Feb;42(1):55-8
6. Dhaifalah I, Zapletalova J. Safety and risks associated with screening for
chromosomal abnormalities during pregnancy. Ceska Gynekol. 2012
Jun;77(3):236-41
7. Gogate S. Methods of fetal tissue sampling and prenatal diagnosis. In Pai
HR, ed. Manual of Genetics and Fetal Medicine. Mumbai: Genetics and
Fetal Medicine Committee FOGSI, 2006:22
8. Schaap AH, van der Pol HG, Boer K, Leschot NJ, Wolf H. Long-term
follow-up of infants after transcervical chorionic villus sampling and after
amniocentesis to compare congenital abnormalities and health status. Prenat
Diagn. 2002 Jul;22(7):598-604
ABSTRACT
Rate of miscarriage following chorionic villus sampling on 315
for prenatal diagnosis of Thalassemia in Kolkata
Sujoy Dasgupta, Kanchan Mukherjee, Kalyansree Chaudhuri
Introduction: Approximately 10000 babies are born with Thalassemia in India
every year. Prenatal diagnosis of Thalassemia is the commonest
indication for Chorionic Villus Sampling (CVS) in India. The
primary objective of this study was to assess the miscarriage rates
following transabdominal CVS for women with Thalassemia trait
carrying singleton pregnancy.
Methods: A retrospective longitudinal study was carried out at a diagnostic
centre in Kolkata. Informed consents were obtained from all
patients for transabodiminal CVS under direct ultrasonic guidance
with local anaesthesia. All procedures were done by the same
operator at the same clinic in two years between Aug 2011 and Jul
2013. The median gestation at the time of CVS was 12
weeks. All but two required single puncture. Patients were
discharged immediately after the procedure on broad spectrum
andibiotics for five days. Outcome data regarding vaginal loss,
miscarriage, fetal affection, preterm labour, limb reduction and
missed diagnosis were collected by direct questionnaire.
Results: A total of 320 CVS were performed over two years. Five cases were
excluded as the indications were different. Three of them were for
Spinal Muscular Atrophy (SMA) and one each for Haemophilia
and Sickle Cell Anaemia. 56 women were lost in follow up for
various reasons. Other 259 women could be followed up, out of
which 53 had already terminated pregnancy as their fetuses were
shown to be affected by Thalassemia major. Out of the remaining
206 women, 185 have already delivered healthy babies and
another 20 have crossed 24 weeks gestation but they are yet to
deliver. There was one case of miscarriage which happened 6
days after the procedure.
Conclusion: CVS has the advantage of making early prenatal diagnosis of
hereditary haemolytic anaemia. This allows the option of early
termination of pregnancy if required. The procedure is simple,
safe, low cost and can be done at the ultrasonography clinic
without inpatient admission. Our results especially the rate of
miscarriage is consistent with the data published in the world
literature.