Inroduction

The majority of babies are born healthy, but if a baby has a condition that is present from birth, it is known as a congenital disorder. Congenital disorders can be caused by genetic factors or environmental factors, and their effects on a child’s health and development can be moderate to severe. A kid born with a congenital disease may develop a handicap or have health issues later in life.

Common congenital disorders

Some congenital disorders are:

  • Club Foot- Congenital talipes equinovarus
  • Congenital dislocation of hip (CDH)
  • Syndactyly
  • Polydactyly
  • spina bifida
  • Fibular Hemimelia
  • Congenital radioulnar synostosis
  • Testing for congenital disorders

Testing for congenital disorders can be conducted from 10 weeks of pregnancy onwards. While most of the parents opt to have tests during pregnancy, it is not mandatory and some do not.

Screening tests are created to identify babies who do not have a congenital disorder. If a screening test fails to rule out your baby having a congenital disorder, the next step is to carry out a diagnostic test.

Diagnostic tests, such as ultrasound scans, blood tests, and sometimes urine tests, are formulated to determine babies who do have a congenital disorder and to discover what that disorder is.

Nevertheless, it is not possible to test for all congenital disorders during pregnancy, and testing is not errorless.

Chorionic villus sampling (CVS)

Chorionic villus sampling or CVS is commonly performed between 10 to 13 weeks of pregnancy when screening tests reveal that your baby may have a congenital disorder. CVS can be utilized to diagnose babies with Down syndrome or other genetic conditions. It comprises using a needle (after a local anesthetic) to gather a small sample of cells from your placenta, which are then sent for testing.

Amniocentesis

This test is carried out after 15 weeks of pregnancy and may be done as an option too, or in addition to, CVS. It can offer an explicit answer as to whether your baby has Down syndrome or another congenital disorder.

Amniocentesis comprises collecting a small amount of fluid from around your baby, using a needle and a local anesthetic, which is then sent for testing.

There is a very minute risk of miscarriage with both CVS and amniocentesis.

Preventing congenital disorders

If you have a personal or family history of a specific congenital disorder, you can get genetic tests done prior to your pregnancy. You may want to visit with a genetic counselor to discuss your family history and the probability that your baby may be born with any congenital diseases, as well as to arrange for genetic testing.

For parents undergoing in-vitro fertilization (IVF) treatment, your embryo can be tested at 2 to 4 days old, prior to its implantation into your uterus.

Other things you can do to attempt to prevent congenital disorders comprise:

  • eating a healthy diet with sufficient vitamins and minerals, specifically folic acid, during the reproductive years
  • taking folic acid tablets even prior to you becoming pregnant and for the first trimester of pregnancy
  • Refraining from alcohol, smoking, and other drugs as these can harm your unborn fetus
  • Restricting your diabetes and gestational diabetes
  • Refraining exposure to environmental chemicals, for instance, pesticides or lead
  • being vaccinated, in special against rubella
  • Neonatal testing and assessment

Once your baby is born, pediatricians and other health professionals will monitor him in the first days after birth for hearing problems, heart disease. This is known as newborn screening. Advance detection of such problems can frequently forbid them from becoming more serious physical, intellectual, visual, or auditory disabilities.