Usually, when preparing for a planned pregnancy, the couple takes a number of measures to ensure maximum peace of mind and safety for the mother, but also, and above all, the health of the future baby.

Preparing for pregnancy

If you are thinking of expanding your family, it is a good idea to make preparations well in advance. According to some doctors, you should think particularly about your health up to 12 months before the planned pregnancy. During this time, it is advisable, among other things, to visit the dentist to have your teeth treated (untreated tooth decay can be dangerous for the baby!), to see your family doctor, who will prescribe medicines - if necessary - that are safe for the future child, and to consult a gynaecologist who will order the appropriate tests and check the woman's reproductive organs. It is also advisable to carry out basic checkups such as blood counts, hormone tests and preventive examinations such as cytology and breast ultrasound. During the appointment, the gynaecologist will prescribe a daily intake of 0.4 mg of folic acid for mothers-to-be. This dosage is best started three months before the planned pregnancy.

Before pregnancy, parents-to-be should also look at their lifestyle. It is imperative to avoid stimulants (cigarettes, alcohol, drugs, excessive amounts of coffee), ensure a balanced and balanced diet and regular, moderate exercise. Avoiding stress and getting enough sleep is recommended.

Priority: Healthy child

Conscious parents who put their child's health first should think about yet another test. Is it worth getting tested for carrying a genetic mutation? The answer is simple. This is because genetic diseases are „insidious”. This means that the causes of their origin, i.e. mutations within the genome, may have existed in a family's DNA for generations. During this time, no individual may show any symptoms or signs of the disease. Many genetic diseases also cannot be detected during tests during pregnancy, even such as prenatal testing. Only after the birth of a sick child do we become aware that the parents are carriers of a mutation. By then, unfortunately, it is too late.

Genetic diseases in a child

The mere carrying of a mutation by the parents does not necessarily immediately indicate a disease in the offspring. The genetic material of each child comes from half of both parents. Therefore, the risk that a child will be born ill only arises if the same mutation, i.e. an abnormality in the DNA structure, is present in both mother and father. In this case, so-called autosomal recessive inheritance can occur. The offspring does not have to be diseased; there is exactly a 25 % chance of this happening. The remaining 25% chance that he or she will be healthy and 50% chance that, like the parents, he or she will be a carrier of the disease. If a child receives a defective gene for a recessively inherited disease from one parent, but the other parent is healthy, the child will be a carrier of the genetic disease in question. In this situation, the child will not develop the disease, but it is worthwhile for the child to be aware of being a carrier in the future, which in turn can protect their offspring from the disease.

Genetic diseases inherited in an autosomal recessive manner include cystic fibrosis, spinal muscular atrophy (SMA), phenylketonuria, sickle cell anaemia, homocystinuria, etc. Although these are so-called rare diseases, their course is extremely distressing, difficult for both parents and the affected child. A child with a serious genetic defect may be profoundly disabled, both intellectually and psychomotor. Unfortunately, in many cases, such children are at risk of premature death.

Visit to a geneticist

The test is simple, safe and completely painless. Before the test, the couple is referred to a geneticist. The doctor will take a medical history and recommend a suitable version of the test for the patient in question. The test itself involves taking a blood sample, similar to a blood count. The sample is sent to a special genetics laboratory. After about 30 days, patients receive the result. If the result is positive, patients are referred to an infertility specialist for assisted reproduction techniques, which prevent the genetic mutation from being transmitted to the child.

Consultation: Dr Ricardo Faundez, Head of Embryology, InviMed Clinic, Warsaw, Poland