DOI: http://dx.doi.org/10.18203/2320-1770.ijrcog20150093

Usefulness of chorionic villus sampling for prenatal diagnosis of thalassaemia: a clinical study in eastern India

Sujoy Dasgupta, Kalyansree Chaudhury, Kanchan Mukherjee

Abstract


Background: Aim: To review the usefulness of chorionic villus sampling for prenatal diagnosis of thalassaemia with focus on risk of miscarriage and stillbirth in Indian women and thus provide local data for counseling the prospective parents in similar situation.

Methods: This retrospective study reviewed the pregnancy outcome of 362 patients with thalassaemia who underwent transabdominal chorionic villus sampling between 10-13 weeks of gestation for prenatal diagnosis. Aspiration of chorionic villus tissue was done in 2 ml normal saline under ultrasound guidance.

Results: The miscarriage (pregnancy loss before 24 completed weeks) rate in our study was 2.02%. The stillbirth (pregnancy loss at or after 24 completed weeks) rate was 27 per 1000 total births. There was no incident of any limb deficiency in our study. In all cases adequate chorionic villus tissue was obtained for analysis.

Conclusions: Thalassaemia is a prevalent condition in Eastern India. Chorionic villus sampling is an effective and safe method for early diagnosis of fetal thalassaemia that helps to prevent birth of thalassaemic babies. 


Keywords


Prenatal diagnosis, Chorionic villus sampling, Thalassaemia, miscarriage, Stillbirth

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References


Weatherall DJ. The inherited disorders of hemoglobin are an emerging global health burden. Blood. 2010;115:4331-6.

Nishi Madan, Satendra Sharma, S. K. Sood, Roshan Colah, (Late) H. M. Bhatia. Frequency of β-thalassemia trait and other hemoglobinopathies in northern and western India. Indian J Hum Genet. 2010 Jan-Apr;16(1):16-25.

Tasleem S, Tasleem H, Siddiqui MA, Adil MM, Rashid Y. Prenatal diagnosis of beta-thalassaemia by chorionic villous sampling. J Pak Med Assoc. 2007 Nov;57(11):528-31.

Rhoads GG, Jackson LG, Schlesselman SE, de la Cruz FF, Desnick RJ, Golbus MS, et al. The safety and efficacy of chorionic villus sampling for early prenatal diagnosis of cytogenetic abnormalities. N Engl J Med. 1989;320:609-17.

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.

Han J, Pan M, Zhen L, Yang X, Ou YM, Liao C, et al. Chorionic villus sampling for early prenatal diagnosis: experience at a mainland Chinese hospital. J Obstet Gynaecol. 2014 Jun;9:1-4.

Ahmed S. Transabdominal chorionic villus sampling (CVS) for prenatal diagnosis of genetic disorders. J Coll Physicians Surg Pak. 2006 Mar;16(3):204-7.

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.

Gogate S. Methods of fetal tissue sampling and prenatal diagnosis. In: Pai HR, eds. Manual of Genetics and Fetal Medicine. Mumbai: Genetics and Fetal Medicine Committee FOGSI; 2006: 22.

Asnafi N, Akhavan Niaki H. Pregnancy outcome of chorionic villus sampling on 260 couples with beta-thalassemia trait in north of Iran. Acta Med Iran. 2010 May-Jun;48(3):168-71.

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.

He S, Li D, Lai Y, Zhang Q, Que T, Tang Y, et al. Prenatal diagnosis of β-thalassemia in Guangxi Zhuang Autonomous Region, China. Arch Gynecol Obstet. 2014 Jan;289(1):61-5.

Tabor A, Vestergaard CHF, Liddegard Ø. Fetal loss rate after chorionic villus sampling and amniocentesis: an 11-year national registry study. Ultrasound Obstet Gynecol. 2009;34:19-24.

Akolekar R, Bower S, Flack N, Bilardo ACM, Nicolaides KH. Prediction of miscarriage & stillbirth at 11-13 weeks and contribution of chorionic villus sampling. Prenat Diagn. 2011;31:38-45.

Khalil A, Rejende Z, Akolekar R, Syngelaki A, Nicolaides KH. Maternal racial origin and adverse pregnancy outcome: a cohort study. Ultrasound Obstet Gynecol. 2013;41:278-85.

Lau KT, Leung YT, Fung YT, Chan LW, Sahota DS, Leung NT. Outcome of 1355 consecutive transabdominal chorionic villus samplings in 1351 patients. Chin Med J (Engl). 2005;118(20):1675-81.

Sirichotiyakul S, Piyamongkol W, Tongprasert F, Srisupandit K, Luewan S. Transabdominal chorionic villus sampling: experience at Maharaj Nakorn Chiang Mai Hospital. J Med Assoc Thai. 2008 Jun;91(6):813-7.

Akhlaghpoor S. Chorionic villus sampling for beta-thalassemia: the first report of experience in Iran. Prenat Diagn. 2006 Dec;26(12):1131-6.

Rajaratnam JK, Marcus AR, Flaxman AD, Wang H, Levin-Rector A, Dwyer L, et al. Neonatal, postneonatal, childhood and under-5 mortality for 187 countries, 1970 – 2010: a systematic analysis of progress towards Millenium Development Goal 4. Lancet. 2010;375(9730):1988-2008.

Bhati DK. Stillbirths: a high magnitude public health issue in India. South East Asia J Public Health. 2013;3(1):3-9.

Olney RS, Moore CA, Khoury MJ, David Erickson J, Edmonds LD, Botto LD. Chorionic villus sampling and amniocentesis: recommendations for prenatal counselling. MMWR. 1995;44(RR-9):1-12.

Firth HV, Boyd PA, Chamberlain P, MacKenzie IZ, Lindenbaum RH, Huson SM. Severe limb abnormalities after chorionic villus sampling at 56-66 days’ gestation. Lancet. 1991;337:762-3.

Medical Research Council European Trial of Chorion Villus Sampling. MRC working party on the evaluation of chorionic villus sampling [comment]. Lancet. 1991;337(8756):1491-9.

RCOG. Green-top Guideline No.8. In: RCOG, eds. Amniocentesis and Chorionic Villus Sampling. UK: RCOG; June 2010: 3.