- What is genetic screening during pregnancy and why is it needed
- Which genetic diseases can be detected in the fetus
- Methods of genetic screening: invasive and non-invasive
- Indications for genetic testing during pregnancy
- Chromosomal abnormalities and the most common hereditary diseases
- How genetic screening is performed at “Ala Atlantis”
- Geneticist consultation: what the doctor will tell you and what recommendations will be given
- Preparation for the test and timing of results
- What to do if an increased risk of pathology is detected
- Frequently asked questions from pregnant women about genetic screening
- Why you should undergo genetic screening at “Ala Atlantis” in Dnipro
Every pregnant woman wants to be sure that her baby is healthy, developing properly, and the pregnancy is proceeding without threats. Modern medical technologies make it possible to detect many genetic pathologies at early stages of pregnancy. Genetic screening is one of the most accurate and safe ways to obtain important information about the future child’s health even before birth.
What is genetic screening during pregnancy and why is it needed?
Genetic screening is a set of laboratory and instrumental studies that assess the risk of chromosomal abnormalities, monogenic diseases, and other genetic disorders in the fetus. The test is done once in a lifetime because a person’s genotype remains unchanged.
The results help:
- Detect possible health risks for the child at early stages
- Take timely measures for proper pregnancy management
- Prepare for the specifics of childbirth and baby care
- Reduce parental anxiety and get a clear action plan
- Start treatment or prevention immediately after birth if necessary
Today, genetic screening can be performed using the mother’s blood (non-invasive prenatal test — NIPT), making the procedure completely safe for the fetus and not requiring any intervention in the pregnancy.
Which genetic diseases can be detected in the fetus?
Modern tests can detect with high accuracy:
- Down syndrome (trisomy 21)
- Edwards syndrome (trisomy 18)
- Patau syndrome (trisomy 13)
- Klinefelter syndrome (extra X chromosome in boys)
- Turner syndrome (missing one X chromosome in girls)
- Cystic fibrosis
- Spinal muscular atrophy
- Phenylketonuria
- Many other monogenic and chromosomal diseases
The accuracy of non-invasive tests for the most common chromosomal abnormalities reaches 99%.
Methods of genetic screening: invasive and non-invasive
Non-invasive methods (recommended first):
- Mother’s blood test (NIPT) — detects fetal DNA circulating in the woman’s blood
- Combined screening (ultrasound + biochemical markers: hCG, PAPP-A)
Invasive methods (used only in high-risk cases):
- Amniocentesis
- Chorionic villus sampling
- Cordocentesis
At “Ala Atlantis”, non-invasive methods are offered first as the safest for mother and child.
Indications for genetic testing during pregnancy
Absolute indications:
- Maternal age under 16 or over 35
- Anomalies in previous children or in parents
- Deviations in biochemical markers in the first or second trimester
- Detected abnormalities on routine fetal ultrasound
- Missed miscarriage, miscarriages, or stillbirths in history
- Consanguineous marriage
Even if you are not in a risk group, many doctors recommend screening for all pregnant women, as genetic anomalies can occur spontaneously.
Chromosomal abnormalities and the most common hereditary diseases
Chromosomal abnormalities are changes in the structure or number of chromosomes. A healthy person has 46 chromosomes (23 pairs). An error during the formation of germ cells can result in an egg or sperm having an extra or missing chromosome.
The most common genetic diseases:
- Down syndrome (trisomy 21)
- Edwards syndrome (trisomy 18)
- Patau syndrome (trisomy 13)
- Klinefelter syndrome
- Turner syndrome
- Cystic fibrosis
How genetic screening is performed at “Ala Atlantis”
- Consultation with a geneticist
- Blood draw (for non-invasive test)
- Ultrasound (if necessary)
- Receiving results
- Detailed interpretation and development of an individual plan
The entire process is comfortable, confidential, and supervised by an experienced specialist.
Geneticist consultation: what the doctor will tell you and what recommendations will be given
During the consultation you will receive:
- Detailed interpretation of test results
- Assessment of individual risks for your child
- Recommendations for pregnancy management
- Plan of preventive measures
- Answers to all your questions
The geneticist will help you make the right decision and provide clear recommendations.
Preparation for the test and timing of results
No special preparation is required. Blood is usually taken on an empty stomach or 2 hours after eating. Non-invasive test results are ready in an average of 7–14 days.
What to do if an increased risk of pathology is detected
In case of high risk, the geneticist will:
- Prescribe additional clarifying examinations
- Develop an individual pregnancy monitoring plan
- Recommend consultations with narrow specialists
- Explain all possible options
Frequently asked questions from pregnant women about genetic screening
Is the test safe for the fetus?
The non-invasive test is completely safe — only the mother’s blood is taken.
Can the test be done at early stages?
Yes, starting from 10 weeks of pregnancy.
What if the result is bad?
The doctor will explain the risks in detail and suggest next steps. The final decision always remains yours.
Why you should undergo genetic screening at “Ala Atlantis” in Dnipro
- Modern equipment and reliable laboratories
- Experienced geneticists
- Full cycle: from analysis to consultation and recommendations
- Individual approach to every pregnant woman
- Comfortable conditions and confidentiality
- Affordable prices
If you want to be sure about your baby’s health — do not delay. Call 0 800 330 970 or book online right now.
Your health and your child’s health are in your hands. We will help you preserve it!