Prenatal Genetic Screening Discussed in Detail for First-time Pregnancies

Posted on: 18 November 2020


Genetic screening is a terminology used to identify a small group of people within a larger population. These people have a disposition to genetic disorders. Particularly, the group in question is at a high risk of developing a genetic disease, having that disorder or bearing children with a genetic disorder. Prenatal genetic screening is essential for the early detection of genetic disorders before you give birth to a child. It helps doctors intervene in good time with measures for managing the disease. It also prepares you for what's coming and enables you to plan on the birth of the foetus. Here is a more detailed discussion:

The Process Involved

In most cases, prenatal genetic screening involves blood tests focusing on a maternal serum marker. The practitioner can also carry out some ultrasounds during the early stages of the pregnancy. Both processes look for abnormal results indicating the possibility of your foetus developing a genetic disorder. Some of the results point to a predisposition to down syndrome, open neural tube defects (ONTD), turner syndrome and Trisomy 18. Other chromosomal abnormalities could also develop depending on the abnormality of the genes.

Ultrasound and Its Contribution

Ultrasound is an essential tool for prenatal genetic screening. Its top benefit is the fact that the practitioner can examine your pregnancy in a non-invasive manner. He or she doesn't need to use sharp needles and syringes during the examination. The absence of invasion means that ultrasounds do not project any risks to the foetus or the mother.

Essentially, ultrasounds are effective for diagnosing obstetric indications like localised placental developments and structural abnormalities of the foetus. A good example is the neural tube effect associated with incontinence and paralysis of the lower limbs after birth.


Amniocentesis involves an aspiration or extraction of the amniotic fluid surrounding the foetus during pregnancy. The amniotic fluid contains foetal cells and proteins that can give valuable insight into the genetic development of the unborn baby. The only downside is the risks involved. Performing amniocentesis early exposes the mother to the risk of leakage from the amniotic chamber. It is advisable to do it at least fifteen weeks before gestation.

Making the Decision

The predisposition to a genetic disorder has several implications to the parents, the unborn baby and the family. You can decide to terminate the pregnancy if the genetic disorder is severe and jeopardises the health of the child from the onset. However, several legalities surround this decision, and you should consult widely with medics and family lawyers if necessary. The screening is essential nonetheless as it prepares you for the child's condition before birth.