Study of Congenital Malformations in Fetal and Early neonatal autopsies
Keywords:
Congenital Malformations, Perinatal Autopsy, malformation Syndromes.
Abstract
Background: Antenatal care in India is rising due to improvement in awareness; still few congenital malformations can be missed in routine check-ups. One lost baby due to birth defects raises questions like; did the malformation led to death, what was the exact nature of malformation, will it recur in next pregnancy and are there any preventive measures? Few congenital malformations can be diagnosed prenatally with ultrasonography techniques, various maternal serum assays, confirmation relies on actual examination of the fetus or neonate. These techniques cannot identify large proportion of congenital malformations for which perinatal autopsy remains the gold standard investigation. The result of a perinatal autopsy may have broad impact, in that obstetrical, fetal, maternal, paternal, and familial conditions may be uncovered.Methods: The descriptive analytical study was carried out in Department of Pathology of a tertiary care hospital from June 2014 to May 2016 for detection of congenital malformations in fetal and early neonatal autopsies in 5 years. Conclusion: Despite advances in imaging such as antenatal ultrasonography and serology, perinatal autopsy is superior and continues to play an important role in diagnosing congenital malformations. The findings of autopsy are not only of theoretical importance but also of practical significance to clinicians in the form of estimating the risk of recurrence and in genetic counseling. DOI: 10.21276/APALM.1272References
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10. Agha MM, Williams JI, Marrett L, To T, Dodds L. Determinants of survival in children with congenital abnormalities: a long-termpopulation-based cohort study. Birth Defects Research A: Clinical and Molecular Teratology2006; 76(1): 46–54.
11. Taboo ZA. A prevalence and risk factors for congenital anomalies in Mosul City. Iraqui Postgraduate Medical Journal 2012; 22(2):140–146.
12. Shamim A,Chohan N,Sobia Q. Pattern of congenitalmalformations and their neonatal outcome. Journal of Surgery Pakistan.2010;15: 34–37.
13. al-Mendalawi MD. Pattern of neonatal and postneonatal deaths over a decade (1995–2004) atamilitary hospital in Saudi Arabia. Saudi Medical Journal2008; 29(10)1518–1521.
14. Penchaszadeh VB. Delivery of genetic services in developing countries. In: M. J. Khoury, W. Burke, and E. Thompson eds. Genetics and Public Health in the 21st Century. New York, USA: Oxford University Press2000: 301-327.
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20. Parmar A, Rathod SP, Patel SV, Patel SM. A Study of Congenital Anomalies In Newborn. NJIRM 2010;1(1): 13-17.
21. Hakverdi S, Guzelmansur I, Gungoren A, Toprak S, Yaldiz M, Hakverdi A U. Evaluation of Fetal Autopsy Findings in the Hatay Region: 274 Cases. Turk Patoloji Derg 2012;28(2):154-161
22. Potekar RM, Javalgi PA , Yelikar B R. Autopsy study to determine fetal anomaly: a retrospective Cohort study. Int J Pharm Bio Sci 2014; 5 (3): 64 – 69.
23. Andola US, Anita AM, Ahuja M, Andola SK. Congenital malformations in perinatal autopsies- A study of 100 cases. JCDR 2012;6(10):1726-1730.
24. Subhashini R, Uma N, Neeraja. Incidence and Evaluation of Congenital Malformations in Victoria Govt. Hospital Visakhapatnam, Andhra Pradesh. JMSCR 2015; 3(2):4022-4036.
25. Madi SA, Al-Naggar RL, Al-Awadi SA, Bastaki LA. Profile of major congenital malformations in neonates in Al-Jahra region of Kuwait. East Mediterr Health J 2005; 11:700–06.
26. Ordonez MP, Nazer J, Aguila A, Cifuentes L. Congenital malformations and chronic diseases of the mother. Latin American collaborative study of congenital malformations 1971-1999. Rev Med Chil 2003; 131:404–11.
27. Nayak SR, Garg N. Determination of antepartum fetal death. J Obstet Gynecol India 2010; 60: 494-97.
28. Sankar VH, Phadke SR. Clinical utility of fetal autopsy and com¬parison with prenatal ultrasound findings. Journal of Perinatology2006; 26: 224-29.
2. MacDorman MF, Atkinson JO. Infant mortality statistics from the 1997 period linked birth/infant death data set. National Vital Statistics Reports, 1999; 47(23):1–23.
3. Rosano A, Botto LD,Botting B, Mastroiacovo P. Infant mortality and congenital anomalies from1950 to 1994: an international perspective.Journal of Epidemiology & Community Health2000; 54(9): 660–666.
4. EUROCAT Working Group, Surveillance of congenital anomalies in Europe 1980–1999, EUROCAT Report 8,Universty of Ulster, Belfast, UK, 2002.
5. Fida NM, al-Aama J, Nichols W, Alqahtani M. A prospectivestudy of congenitalmalformations among live born neonates at a University Hospital in Western Saudi Arabia. Saudi Medical Journal 2007; 28(9): 1367–1373.
6. Bower C, Callaghan A, Quick J. Report of the Birth Defects Registry of Western Australia, Tech. Rep. no. 15, King EdwardMemorial Hospital, Women and Newborn HealthService, 2010.
7. Abdi-Rad I, Khoshkalam M,Farrokh-Islamlou H R. The prevalence at birth of overt congenital anomalies inUrmia, Northwestern Iran. Archives of Iranian Medicine 2008; 11(2):148–151.
8. Tomatir AG ,Demirhan H, Sorkun HC, K¨oksal A, Ozerdem F, ilengir NC. Major congenital anomalies: a five-year retrospective regional study in Turkey. Genetics and Molecular Research 2009; 8(1);19–27.
9. Taksande A,Vilhekar K,Chaturvedi P, Jain M. Congenital malformations at birth in Central India: a rural medical college hospital based data. Indian Journal of Human Genetics 2010; 16(3)159–163.
10. Agha MM, Williams JI, Marrett L, To T, Dodds L. Determinants of survival in children with congenital abnormalities: a long-termpopulation-based cohort study. Birth Defects Research A: Clinical and Molecular Teratology2006; 76(1): 46–54.
11. Taboo ZA. A prevalence and risk factors for congenital anomalies in Mosul City. Iraqui Postgraduate Medical Journal 2012; 22(2):140–146.
12. Shamim A,Chohan N,Sobia Q. Pattern of congenitalmalformations and their neonatal outcome. Journal of Surgery Pakistan.2010;15: 34–37.
13. al-Mendalawi MD. Pattern of neonatal and postneonatal deaths over a decade (1995–2004) atamilitary hospital in Saudi Arabia. Saudi Medical Journal2008; 29(10)1518–1521.
14. Penchaszadeh VB. Delivery of genetic services in developing countries. In: M. J. Khoury, W. Burke, and E. Thompson eds. Genetics and Public Health in the 21st Century. New York, USA: Oxford University Press2000: 301-327.
15. Long G, Spring A. A comparative study of routine versus selective fetal anomaly ultrasound scanning. American College of obstetricians and Gynecologists 1998; 5: 6-10.
16. Potter EL. Pathology of the fetus and infants. 1st ed, New York: Mosby Co;1997.
17. World Health Organisation. The ICD-10 version 2010, Classification of Congenital malformations, deformations and Chromosomal abnormalities. Geneva, 1994 (http://apps.who.int/classifications/icd10/browse/2010/en#/XVII) accessed on 08/05/2016.
18. Burton JL, Underwood JCE. Necropsy practice after the ‘Organ retention Scandal’. Requests, performance, and tissue retention. J. Clin Pathol 2003; 56: 537-541.
19. Pattanaik T, Samal S, Jena T. Study of Congenital Anomalies in a Tertiary Care Hospital. Indian Journal of Neonatal Medicine and Research 2016; 4(3):1-4.
20. Parmar A, Rathod SP, Patel SV, Patel SM. A Study of Congenital Anomalies In Newborn. NJIRM 2010;1(1): 13-17.
21. Hakverdi S, Guzelmansur I, Gungoren A, Toprak S, Yaldiz M, Hakverdi A U. Evaluation of Fetal Autopsy Findings in the Hatay Region: 274 Cases. Turk Patoloji Derg 2012;28(2):154-161
22. Potekar RM, Javalgi PA , Yelikar B R. Autopsy study to determine fetal anomaly: a retrospective Cohort study. Int J Pharm Bio Sci 2014; 5 (3): 64 – 69.
23. Andola US, Anita AM, Ahuja M, Andola SK. Congenital malformations in perinatal autopsies- A study of 100 cases. JCDR 2012;6(10):1726-1730.
24. Subhashini R, Uma N, Neeraja. Incidence and Evaluation of Congenital Malformations in Victoria Govt. Hospital Visakhapatnam, Andhra Pradesh. JMSCR 2015; 3(2):4022-4036.
25. Madi SA, Al-Naggar RL, Al-Awadi SA, Bastaki LA. Profile of major congenital malformations in neonates in Al-Jahra region of Kuwait. East Mediterr Health J 2005; 11:700–06.
26. Ordonez MP, Nazer J, Aguila A, Cifuentes L. Congenital malformations and chronic diseases of the mother. Latin American collaborative study of congenital malformations 1971-1999. Rev Med Chil 2003; 131:404–11.
27. Nayak SR, Garg N. Determination of antepartum fetal death. J Obstet Gynecol India 2010; 60: 494-97.
28. Sankar VH, Phadke SR. Clinical utility of fetal autopsy and com¬parison with prenatal ultrasound findings. Journal of Perinatology2006; 26: 224-29.
Published
2017-09-01
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