Second trimester amniocentesis for prenatal diagnosis of genetic disorders in Bangladesh
DOI:
https://doi.org/10.18203/2320-1770.ijrcog20205753Keywords:
Amniocentesis, Amniotic, Diagnosis, Needle, PrenatalAbstract
Background: Amniocentesis is characteristically carried out under ultra-sonographic control, between 15 and 17 weeks of pregnancy. The term prenatal diagnosis firmly comprises all diagnostic modalities aimed at gaining information about the embryo. Its history includes the development of cytogenetic, molecular genetics and molecular cytogenetic methods. Prenatal diagnosis is now possible for a considerable number of genetic diseases and/or birth defects using a variety of techniques. Objective was to evaluate the safety, feasibility and outcome of second trimester amniocentesis for prenatal diagnosis of genetic disorders.
Methods: This was a descriptive study, conducted at fetal medicine center, Family Care Foundation, Dhaka, Bangladesh from June 2014 to December 2019. A total of 350 pregnant women had undergone 15-20 week’s transabdominal amniocentesis under real-time ultrasound guidance. A 23 gm/ 88 mm spinal needle was used. The needle was passed though the maternal abdomen into the amniotic cavity in its longitudinal direction. Once the needle was adequately placed, the amniotic fluid is aspirated with a suction force through a 20 cc syringe. All amniocentesis was performed with “two operators” technique.
Results: A total of 350 Amniocentesis were done. Beta thalassemia was most common (79.7%). Followed by aneuploidy (10.2%), hemophilia (6.2%), SMA (2.0%), DMD (1.7%), hematoma (7%), intra amniotic bleeding (2%) and per vaginal bleeding (2.8%). 3.7% aspiration was difficult due to fibroid and retroverted uterus. The overall aspiration success rate was 100%.
Conclusions: Second trimester transabdominal amniocentesis in an outdoor setting with the help of real-time sonography is a safe procedure with no significant risk to the mother and the fetus.
References
Fuchs F, Riis R. Antenatal sex determination. Nature. 1956;177:330.
Steele MW, Berg WR. Chromosome analysis of human amniotic cell. Lancet. 1996;1:383.
Romero R, Jeanty P, Reece EA, Grannum P, Bracken M, Berkowitz R, et al. Sonographically monitored amniocentesis to decrease intraoperative complications. Obstet Gynecol. 1985;66:427.
Modell B, World Health Organization. Hereditary Diseases Programme. 1994. Guidelines for the control of haemoglobin disorders/ edited by Bernadette Modell. World Health Organization. Available from: https://apps.who.int/iris/ handle/10665/66665. Accessed on 4 September 2020.
Khan WA, Banu B, Amin SK. Prevalence of β-Thalassaemia Trait and Hb E trait in Bangladesh School Children and Health Burden of Thalassaemia in our population. Dhaka Shishu (Child) Hosp J. 2005;21(11):1-7.
Birth Defects in South-East Asia. A public health challenge. Situation Analysis. World Health Organization 2013. https://apps.who.int/iris/handle/10665/204821.
Kelley, Kristin, "Amniocentesis Prior to 1980". Embryo Project Encyclopedia (2010-09-02). ISSN: 1940-5030. Available from: http://embryo.asu.edu/handle/10776/2072. Accessed on 6 September 2020.
Nadler HL, Gerbie AB. Role of amniocentesis in the intrauterine detection of genetic disorders. N Engl J Med. 1970;282:596-9.
Ball RH. Invasive fetal testing. Curr Opin Obstet Gynecol. 2004;16:159-62.
Levy R, Arfi JS, Daffos F. Fetal sampling techniques. Gynecol Obstet Fertil. 2003;31:550-5.
lzetbegovic S, Mehmedbasic S. Early amniocentesis as a method of choice diagnosing gynaecological diseases. Acta Inform Med. 2013;21(4):270-3.
Stetten G, Escallon CS, South ST. Reevaluating confined placental mosaicism. Am J Med Genet A. 2004;131:232-9.
Brambati B, Tului L, Camurri L, Guercilena S. Early second trimester (13-20 weeks) transabdominal chorionic villus sampling (TA-CVS): a safe and alternative method for both high and low risk population. Prenat Diagn. 2002;22:907-13.
The American College of Obstetricians and Gynecologists. Practice Bulletin No. 162: Prenatal Diagnostic Testing for Genetic Disorders. Obstet Gynecol. 2016;127(5)108-22.
Ahmed S. Transabdominal chorionic villus sampling (CVS) for prenatal diagnosis of genetic disorders. J Coll Phys Surg Pak. 2006;16(3):204-7.
A1 Tamimi H, Al Sakka M, Lilia AR, Selmy O. An assessment of five year experience in amniocentesis in Qatar. Qatar Med J. 2007;16(2).
Ajayi GO. Chorionic villus sampling: analysis of the first 350 singleton pregnancies by a single operator. Clin Exp Obstet Gynecol. 2009;36(4):251-3.
Olney RS, Moore CA, Khoury MJ, Erickson JD, Edmonds LD, Botto LD, et al. Chorionic villus sampling and amniocentesis: recommendations for prenatal counseling. MMWR. 1995;44:1-2.
Silver RK, MacGregor SN, Sholl JS, Elesh RH, Beaird JA, Waldee JK. Initiating a chorionic villus sampling program. Relying on placental location as the primary determinant of the sampling route. J Reprod Med. 1990;35:964-8.
Cochrane L, Ainscough M, Alfirevic Z. The influence of needle and syringe size on chorionic villus sampling of term placentae: a randomized trial. Prenat Diagn. 2003;23:1049-51.
Odibo AO, Gray DL, Dicke JM, Diane L. Revisiting the fetal loss rate after second-trimester genetic amniocentesis: a single center's 16-year experience. Obstet Gynaecol. 2008;111(3):589-95.