DOI: http://dx.doi.org/10.18203/2320-1770.ijrcog20213840

Profile of congenital defects in foetuses: incidence and risk factors: a prospective observational study

Parul Jaiswal, Alka Sehgal, Anupriya Kaur, Bharti Goel, Suman Kochhar

Abstract


Background: Perinatal outcome is one of the major indicators of evaluating health care system of a country. Congenital defects form important components of this parameter. The aim of the study was to determine the risk factors associated with congenital malformations in foetuses.

Methods: All antenatal mothers whose foetuses were detected to have congenital defects on ultrasonography irrespective of period of gestation were enrolled for the study.

Results: Eighty-six pregnant women with prenatally diagnosed fetal anomalies were enrolled for the study, out of which, 87.2% (N=75) belonged to 20-30 years age group. Majority of the subjects were educated till secondary school. Compared to primigravidae, the incidence of malformations was significantly higher in the multigravida group (69.8% vs 30.2% respectively). Thirty-eight (44.2%) mothers with malformed foetuses missed folic acid intake during early pregnancy. Only 40% mothers had prior history of abortions. Smoking was seen in 9% of subjects with malformations. Seven (8.3%) mothers had previous history of malformations and 5 (5.8%) reported a family history of malformations. Consanguineous marriage was observed in 4.7% of couples. Oligohydramnios or anhydramnios was associated with 11.6% foetuses, while polyhydramnios was seen in 53.5%. CNS malformations were seen in 57% of foetus, followed by genitourinary system malformations (9.2%).

Conclusions: Tertiary level hospitals need to be upgraded with a dedicated multidisciplinary team of foetal medicine to cater to medical, clinical, surgical, preventive and therapeutic needs of malformed foetuses.


Keywords


Congenital malformations, Birth defects, Risk factors, Counselling

Full Text:

PDF

References


Taksande A, Vilhekar K, Chaturvedi P, Jain M. Congenital malformations at birth in Central India: A rural medical college hospital based data. Indian J Hum Genet. 2010;16(3):159-63.

Bhide P, Gund P, Kar A. Prevalence of Congenital Anomalies in an Indian Maternal Cohort: Healthcare, Prevention, and Surveillance Implications. PLoS One. 2016;11(11):166408.

Christianson A, Howson CP, Modell B. Relationship between birth defect and maternal age, occupation, level of education. White Plains, New York: March of Dimes Foundation; 2006.

Institute of Medicine (US) Committee on Improving Birth Outcomes. Reducing Birth Defects: Meeting the Challenge in the Developing World. Bale JR, Stoll BJ, Lucas AO, eds. Washington: National Academies Press; 2003.

Iourov IY, Vorsanova SG, Yurov YB. Pathway-based classification of genetic diseases. Mol Cytogenet. 2019;12:4.

Saban C, Acquaviva C, Cheillan D, Frachon S, Guibaud L, Pagan C, et al. Antenatal manifestations of inborn errors of metabolism: biological diagnosis. J Inherit Metab Dis. 2016;39(5):611-24.

Singh J, Kapoor A, Kaur A, Kochhar S, Huria A. Incidence of Anencephaly in a tertiary care hospital in North West India. Int J Scj Res. 2015;5:17.

Sarkar S, Patra C, Dasgupta MK, Nayek K, Karmakar PR. Prevalence of congenital anomalies in neonates and associated risk factors in a tertiary care hospital in eastern India. J Clin Neonatol. 2013;2(3):131-4.

Vrijheid M, Dolk H, Stone D, Abramsky L, Alberman E, Scott JE. Socioeconomic inequalities in risk of congenital anomaly. Arch Dis Child. 2000;82(5):349-52.

Grandjean H, Larroque D, Levi S. The performance of routine ultrasonographic screening of pregnancies in the Eurofetus Study. Am J Obstet Gynecol. 1999;181(2):446-54.

Ministry of Law and Justice (legislative department). The Medical Termination Of Pregnancy (Amendment) Act, 2021, Available at: https://egazette.nic.in/WriteReadData. Accessed on 15 July 2021.

Singh A, Sinha S. Risk Factors of Congenital Malformations in North India: A Case–control Study. J Postgrad Med Educ Res. 2016;50:59-63.

Padmanabhan R. Etiology, pathogenesis and prevention of neural tube defects. Congenit Anom. 2006;46(2):55-67.

Perveen F, Tyyab S. Frequency and pattern of distribution of congenital anomalies in the newborn and associated maternal risk factors. J Coll Physicians Surg Pak. 2007;17(6):340-3.

Shawky RM, Sadik DI. Congenital malformations prevalent among Egyptian children and associated risk factors. Egypt J Med Hum Genet. 2011;12:69-78.

Sudhir N, Kaur T, Beri A, Kaur A. Cytogenetic analysis in couples with recurrent miscarriages: a retrospective study from Punjab, North India. J Genet. 2016;95:887-94.

Ryynänen M, Heinonen S, Kirkinen P. Recurrence risk of a serious, noninherited chromosomal abnormality. Fertil Steril. 1997;68:439-42.

Andrews LB, Fullarton JE, Holtzman NA, Motulsky AG. Assessing Genetic Risks: Implications for Health and Social Policy. Washington, DC: National Academies Press; 1994.

Soujanya JP, Amarnath GS. A study to assess the knowledge regarding consanguineous marriages and its genetic effects among young adults with a view to develop an information guide sheet. IOSR J Nurs Health Sci. 2013;1:24-8.

Stoll C, Alembik Y, Roth MP, Dott B. Study of 224 cases of oligohydramnios and congenital malformations in a series of 225,669 consecutive births. Community Genet. 1998;1:71-7.

Chen CP. Congenital Malformations Associated with Maternal Diabetes. Taiwan J Obstet Gynecol. 2005;44:1-7.

Ronya R, Gupta D, Ghosh SK, Narang R, Jain KB. Spectrum of congenital surgical malformations in newborns. J Indian Med Assoc. 2002;100:565-6.

Chen CP, Chien SC. Prenatal Sonographic Features of Miller-Dieker Syndrome. J Med Ultrasound. 2010;18:147-52.

Joshi T, Noor NN, Kural M, Tripathi A. Lethal multiple pterygium syndrome. J Fam Med Prim Care. 2016;5:477-8.

Martin V, Smith C. Review of genetic factors in intestinal malrotation. Pediatr Surg Int. 2010;26:769-81.

Sanlaville D, Etchevers HC, Gonzales M, Martinovic J, Ziza M, Delezoide AL, et al. Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development. J Med Genet. 2006;43:211-7.

Mallmann MR, Reutter H, Müller AM, Geipel A, Berg C, Gembruch U. Omphalocele-Exstrophy-Imperforate Anus-Spinal Defects Complex: Associated Malformations in 12 New Cases. Fetal Diagn Ther. 2017;41:66-70.

Chen CP. Syndromes and Disorders Associated with Omphalocele (III): Single Gene Disorders, Neural Tube Defects, Diaphragmatic Defects and Others. Taiwan J Obstet Gynecol. 2007;46:111-20.

Poaty H, Pelluard F, Diallo MS, Ondima IPL, André G, Massamba JF. Omphalocele: a review of common genetic etiologies. Egypt J Med Hum Genet. 2019;20:37.

Sheth J, Mistri M, Shah K, Chaudhary M, Godbole K, Sheth F. Lysosomal Storage Disorders in Nonimmune Hydrops Fetalis (NIHF): An Indian Experience. JIMD Rep. 2016;35:47-52.