Nowadays it is almost impossible to be „expecting“ without worry during the whole pregnancy. In today’s time, every pregnant woman is informed about related risks, potential illnesses and anomalies, consults „Dr. Google“ and is then unsure about the „diagnosis“. Additionally, we know that more chromosomal anomalies can be expected with the increasing age of potential parents, especially mothers. At the same time, the age of potential mothers increase due to changes in society and life planning.
The wish to have a healthy child could also be viewed from a different perspective. You might fear bearing a handicapped child and consider undergoing an abortion should that be the case. Please consider if you want a prenatal check-up done, which consequences you would draw from being pregnant with a disabled or sick child? Would you consider an abortion?
These questions will be discussed during the appointment.
There are many different procedures involved in prenatal diagnosis that can be used at different times during the pregnancy. However, these can also be invasive in different ways.
First Trimester-Screening.For pregnant women of all ages, the“ First-Trimester-Screening“ (as of the 12th week of pregnancy) can be considered to detect anomalies of the chromosomes 21,18 and 13: the embryo’s nuchal is examined and different motherly blood rates lead to a statistical result (e.g. „1:1340“ – this means that in 1340 births one child is affected). With a higher statistical risk, parents have to think about how they want to tackle the next steps toward clarification. The First Trimester Test can also give a hint for a congenital heart defect, spina bifida (open back) and some other anomalies. The numeral changes in chromosomes 21, 18 and 13 are also tested in the NIPTs, for example the Praenatest®, which is a blood test and could be the next step. (You also can choose a Praenatest® as the first step, but then you have to pay for it on your own.)
If, after the first screening, a statistical risk occurs that is higher than 1:1000 (= larger than one per thousand) then the Swiss OKV covers the costs for a NIPT, for example the Praenatest ®. As of the 10th week of pregnancy, embryonic chromosomes can be extracted from the maternal bloodstream, which can then be tested for trisomy 21 (Down-Syndrome), trisomy 13 (Patau-syndrome) or 18 (Edwards-Syndrome). Additionally, the gender of your child can be determined.
If the motherly age is significantly high, if there has been a peculiar ultrasound, or if the parents want another result in addition to the statistical result, a primary Praenatest® can be carried out on a self-pay basis or a invasive procedure can be chosen, in which embryonic cells can be extracted directly.
For this, different methods are available, such as amniocentesis or chorionic villus sampling where embryonic cells are extracted from the amniotic fluid or the chorionic tissue. For this you would be sent to a specialized center for praenatal diagnosis.
Organ screeningAn alternative or an addition to these examinations is a special ultrasound examination done during the 21/22 week of pregnancy, known as „organ screening“. Here the aim is to improve the disabled or sick child’s start in life, e.g. finding a specialized hospital for childbirth.
The whole topic deserves careful counseling of the parents expecting, and cannot be discussed here in its fullest. Thus, you will receive more information on the matter in the practice so you can make the best decision for you and your unborn child.