Invasive prenatal diagnostic procedures: a developing countries’ perspective
Keywords:Prenatal, Amniocentesis, CVS
Background: Antenatal procedures are effective prenatal diagnostic tool for detection of fetal disorders. They have been practiced since time long, still in developing countries like India they are yet to find a place. Here, we report our experience with antenatal procedures from a single medical centre, focusing on the indications and outcome of invasive prenatal procedures.
Methods: This is retrospective observational study was conducted on pregnant women presenting at Sanjay Gandhi Post Graduate Institute of Medical Sciences; Lucknow, India between July 2009 and September 2013 was conducted. The data were analyzed to find out the indications, gestational age, complications and outcome of diagnostic prenatal testing.
Results: Antenatal diagnostic procedures include amniocentesis, chorionic villous sampling, cordocentesis, vesicocentesis and paracentesis. There were 473 total number of procedures done during this period, of which 53 (11.2%) were CVS, 315 (66.5%) were amniocentesis, 72 (15.2%) were cordocentesis, 21(4.4%) were vesicocentesis and 7 (1.4%) were paracentesis. Out of total procedures 47 (9.9%) procedures results were abnormal while 426 had normal results. In abnormal result group, 24 patients (51%) were of gestational age of less than or equal to 20 weeks. All those with lethal / major malformation underwent termination of pregnancy where gestational age of less than 20 weeks.
Conclusions: With appropriate prenatal invasive test were able to prevent birth of affected fetus which is of huge importance considering the patients who give birth to abnormal babies only to see them suffering and frequently dying also. Prenatal invasive test were able to prevent this psychological, mental as well as physical trauma in these patients.
ACOG Committee opinion number 545:Non-invasive fetal testing for fetal aneuploidy. Obstet Gynecol. 2012;120:1532-4.
Evans MI, Wapnar RJ. Prenatal Screening: Incorporating the First Trimester Screening. Seminars in perinatology.2005;29:215–8.
Tabor A, Madsen M, Obel E, Philip J, Bang J, Gaard Pedersen. Randomised controlled trial of genetic amniocentesis in 4606 low-risk women. The Lancet. 1986; 327(8493):1287–93.
Wapner RJ. Invasive Prenatal Diagnostic Techniques. Seminars in perinatology .2005;29:401-4.
Brambati B, Terzian E, Tognoni G. Randomized clinical trial of transabdominal versus transcervical chorionic villous sampling methods. Prenat Diagn. 1991;11:285–93.
Jackson L, Zachary J, Fowler S, Desnick R, Golbus M, Ledbetter D et al. A randomized comparison of transcervical and transabdomisal chorionic villus sampling. New Engl J Med. 1992;327:594–8.
Alfirevic Z, Mujezinovic F, Sundberg K. Amniocentesis and chorionic villus sampling for prenatal diagnosis. Cochrane Database Syst Rev. 2003;(3):CD003252.
Nanal R, Kyle P, Soothill PW. A classification of pregnancy losses after invasive prenatal diagnostic procedures: an approach to allow comparison of units with a different case mix. Prenatal Diagnosis. 2003;23:488–92.
The Medical Termination of Pregnancy Amendment Act, 2002 (No. 64 of 2002) .An Act to amend the Medical Termination of Pregnancy Act, 1971. Government of India, Ministry of Health and Family Welfare.
Carnevale A, Hernández M, Reyes R, Paz F, Sosa C. The frequency and economic burden of genetic disease in a pediatric hospital in Mexico City. Am J Med Genet. 1985;20(4):665-75.
Kaur A, Singh JR. Chromosomal Abnormalities: Genetic Disease Burden in India. Int J Hum Genet. 2010;10(1-3):1-14.
Shawn E, McCandless, Jeanne W, Brunger , Suzanne B. Cassidy. The Burden of Genetic Disease on Inpatient Care in a Children’s Hospital. Am J Hum Genet. 2004;74(1):121–7.
Nadler HL, Gerbie AB. Role of Amniocentesis in the Intrauterine Detection of Genetic Disorders. N Engl J Med. 1970;282:596-9.
Neagos D, Corina R, Camil L. The Importance of Screening and Prenatal Diagnosis in the Identification of the Numerical Chromosomal Abnormalities. Maedica (Buchar). 2011;6(3):179–84.
Weiner S, Scharf JI, Bolognese RJ, Librizzi RJ. Antenatal diagnosis and treatment of a fetal goiter. J Reprod Med. 1980;24(1):39-42.
Pradan M, Anand B, Mehrotra M. Management of fetal goitre by intraamniotic instillation of thyroxine tablet : A case report. 2013.