Screening the Baby Bump

Screening the Baby Bump

The longer a couple wait to have a child, their risk of having a baby that carries a genetic disease (Down syndrome, Patau syndrome, etc) increases. This is because the egg and the sperm both have a higher chance of becoming defective as one ages. This is especially documented in women. Table 1 shows the risk of a woman bearing a child with Down syndrome as she ages.

Table 1. A woman’s risk of bearing a child with Down syndrome

Maternal age Risk of Down Syndrome
25 1 in 1,300
30 1 in 850
35 1 in 340
40 1 in 100

Many fertility centres offer genetic screening service as an add-on to various fertility treatment packages. While it is not compulsory, it may be worth considering in the following situations:

  • Parents-to-be with a family history of genetic disorders and birth defects.
  • Parents-to-be who are aged 40 years or older, especially the mother-to-be.
  • Mothers-to-be with a history of miscarriages or have previous children with birth defects, mental handicap or genetic disorders.

The cost varies. Screening for rare genetic mutations usually cost more, as the specimen may have to be sent to laboratories overseas for analysis.

Types of genetic screening

  • Pre-conception genetic screening. This checks whether the parents are carrying genes that put any child they conceive at risk of developing a genetic disorder.
  • Pre-implantation genetic screening. A sample of cells is carefully extracted from the foetus at the early stage of pregnancy to determine whether there is any genetic abnormality present.
  • Prenatal genetic screening. This is to test whether the baby has genetic disorders. More recent methods such as non-invasive prenatal diagnosis (NIPD) allow for less invasive screening with lower risk to the child one is carrying.

Each type of screening is not 100% accurate, so there is a possibility that a baby is born with a genetic disorder despite having negative results, or vice-versa. Depending on the risk, the fertility specialist may encourage the parents to take one or more, maybe even all three types of screening.

The benefits of screening

Knowledge is power, as the saying goes. Indeed, knowing that there is a possibility of the child having a genetic disorder allows the parents to be emotionally prepared to raise a special needs child when the time arrives. The parents have time to consult in advance specialists on the needs of the child, make arrangements for the child’s education and caregiving needs, and even make necessary financial arrangements. By having the time to consult necessary experts and advisors, parents will not be caught unaware when the child arrives into their lives.

Also, by being emotionally prepared to raise the special needs child, the parents would be less likely to face conflicts and challenges that could come in the way of their relationship. 


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