| ORIGINAL ARTICLE |
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| Year : 2020 | Volume
: 9
| Issue : 1 | Page : 24-30 |
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Assessment of risk factor associated with down syndrome
Amandeep Kaur, Anupam Kaur
Department of Human Genetics, Guru Nanak Dev University, Amritsar, Punjab, India
Correspondence Address:
Dr. Anupam Kaur
Department of Human Genetics, Guru Nanak Dev University, Amritsar - 143 005, Punjab
India
 Source of Support: None, Conflict of Interest: None
DOI: 10.4103/jpai.jpai_3_20
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Introduction: A large number of Down syndrome (DS) children are born every year in India and are the leading cause of morbidity and mortality in infants. The aim of the present study was to evaluate the possible risk factors in mothers for having DS. Methodology: A total of 217 DS cases were collected, and lymphocyte culturing was performed to confirm aneuploidy. Mothers having DS children (n = 213) with confirmed trisomy 21 and age-matched controls (n = 220) with normal children were collected. Results: Of 217 cases, 213 had confirmed trisomy 21 in children, and free trisomy 21 was observed in 91.71%, followed by mosaics in 3.68% and Robertsonian translocations in 2.30% of the cases. A double aneuploidy with chromosomal constitution 48, XXY,+21 (0.46%) was also seen. The mean maternal age in cases was 27.34 ± 5.2 years, while in controls, it was 27.75 ± 4.9 years. Logistic regression analysis showed that intake of folic acid (P < 0.0001) was associated with reduced risk while decreased parity (P = 0.01), intake of drugs in mothers (P = 0.002), and alcohol intake in fathers (0.032) were significantly associated with an increased risk of a DS child. Nearly 30.62% of the mothers experienced miscarriage before the birth of DS child but was not associated with an increased risk of trisomy 21. Conclusions: DS children were born to mothers younger than 30 years; intake of folic acid significantly reduced the risk, while intake of drugs in mothers and intake of alcohol in fathers significantly increased the risk of a DS child.
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