
Birth defects can affect around 3 to 4 per cent of pregnancies, ranging from mild to severe and potentially life-threatening conditions. These defects can arise from genetic, environmental, or multifactorial causes. One of the most common genetic birth defects is Down syndrome, characterised by an extra chromosome 21 and associated with mental retardation, delayed development, congenital heart issues, and more. This condition can be detected through ultrasound and specialised blood tests during pregnancy.
Heart defects are another significant category of birth defects, ranging from mild cases that may require oxygen post-birth to complex issues like transposition of great vessels or septal defects, sometimes necessitating major surgery.
Cleft lip and cleft palate are also birth defects that may require surgical interventions.
Spina bifida, an abnormality of the spinal cord, presents a defect in spinal fusion. Symptoms and prognosis vary depending on the extent of spinal cord and nerve involvement.
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Hydrocephalus, a brain defect where fluid accumulates in the brain cavities, can cause pressure symptoms. Treatment often involves the use of shunts.
Clubfoot, a condition where the foot remains twisted with a high arch, usually requires intensive physiotherapy and occasionally minor surgery but is not life-threatening.
Urinary tract anomalies, such as pelvi calyceal dilatation and posterior urethral valves, are common. While pelvi calyceal dilatation typically resolves after delivery, some cases may require antibiotics or surgery. Posterior urethral valves can lead to severe hydronephrosis and bladder issues.
Congenital dislocation of the hip can cause walking difficulties in babies and may require braces or surgery.
Folic acid supplementation before conception can reduce the risk of neural tube defects. A healthy diet rich in vitamins and minerals is recommended while smoking, alcohol, and drug use should be avoided.
Consult with a healthcare provider regarding preconception and pregnancy medications. Vaccinations and blood sugar control should also be addressed before conception.
(With inputs fromDr Danny Laliwala-Consultant, Obstetrics & Gynaecology- Jaslok Hospital & Research Centre, Mumbai)
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