Our clinic offers comprehensive and extended screening services to all expectant mothers, relying on our internationally trained experts and on our ultrasound equipment complying with the latest standards.
(The examinations are conducted according to the FMF‘s (Fetal Medicine Foundation London) guidelines, which is an international institute auditing and accrediting experts who conduct these exams.)
By the 12th – 13th week of pregnancy, almost all organs of the fetus have developed, so that about two thirds of general developmental disorders that might develop can be detected with the help of modern, high resolution ultrasound devices. The first trimester extended screening at our clinic enables the detection of 95-97% of the most common severe chromosomal disorders (Down, Edwards, or Patau syndrome). However, only part of the screening focuses on chromosomal disorders. At this point, several other anatomical disorders can be detected, as well. During the first trimester extended screening, particular attention is paid to the screening of an embryo’s potential heart and cardiovascular disorders, as at this point – with the help of appropriate expertise – 90% of these severe disorders can already be detected. If necessary, we also provide genetic consultation.
The first trimester extended screening allows for the detection of more frequently occurring disorders, affecting the following organs and organ systems:
Details - 1st trimester
Cranial and facial bones
Central nervous system and spine
Limbs
Chest and abdominal organs, abdominal wall
Kidneys, bladder
Heart and major vessels (approximately 90% of anomalies can be detected)
Placenta
Uterine wall and ovaries
Twin pregnancies
Ultrasound screening for abnormalities which increase the risk of chromosomal disorders and heart development defects
Thanks to the growth of the fetus, by the second trimester (19th – 20th week), the ultrasound examination allows for the detection of 90% of developmental disorders and nearly 100% of severe heart defects. During the exam, in addition to the examination of the parameters indicating the fetus’ size, we do a 3D exam of the brain and facial bones, and the central nervous system can be examined in detail for the first time. Now spine, limbs – including fingers, chest, lungs, heart and major blood vessels, health of the abdominal wall, and the organs of the abdomen (stomach, bowels, gall bladder, liver, kidneys, bladder), navel and umbilical cord can be thoroughly examined and shown on 40 planes, which we look at during all exams. In addition, we also search for signs of specific abnormalities enhancing the risk of Down syndrome.
Disorders that can be screened for, listed by organ systems (the following list is non-exhaustive):
Details - 2nd trimester
Cranial and facial bones
Central nervous system and spine
Limbs
Chest and lungs
Heart and major vessels (nearly all anomalies can be detected)
Abdominal wall, stomach and gastrointestinal tract
Urinary tract system
Placenta and umbilical cord
The third trimester ultrasound examination (28th – 31st week) focuses on the fetus’ growth and development inside the uterus. We will check umbilical and cerebral circulation, in order to check the functioning of the placenta. Considering that the majority of developmental disorders can already be detected during the second trimester ultrasound examination, anomalies detected at this point are generally of lesser significance. However, it can be important to know about them, because they might need to be treated and monitored after birth (smaller heart defects, renal anomalies, etc.)
Already during the first semester, mothers-to-be receive genetic consultation if it is advised. During this consultation, we inform about the prevalence of chromosomal abnormalities and about the different genetic examinations that can be done.
Our clinic offers the most up-to-date and modern genetic tests to everybody: the so-called non-invasive prenatal testing, or NIPT which enables to screen certain severe chromosomal disorders (Down, Edwards or Patau syndrome, sex chromosome disorders, and the deletion of smaller parts of certain chromosomes called microdeletion) with an accuracy of 99.5%, without endangering the embryo/fetus. Hence this testing does not bear any risk of miscarriage. The testing is based on the examination of the cell-free DNA of the embryo/fetus circulating in the mother’s blood (more precisely, DNA from the placenta cells). Non-invasive prenatal testing can be done at any time between the 9th and the 20th week with the same efficacy. It is advised, though, to choose the earliest date possible. The test results can be expected to be ready within 8-12 working days.