A new prenatal test is now available. It is called prenatal carrier screening and tests parents for possible genetic diseases that they could inherit to their offsprings. Testing the parents is done by a simple blood draw and we can test either parent’s carrier status of serious conditions that they could pass to their baby....
When is the test done; The chorionic villous sampling test is performed between 11-15 gestational weeks. Why is CVS needed? The commonest indications are: Increased risk for a chromosomal abnormality as calculated by the combined test (the combination of maternal age, ultrasound and biochemical markers) in the first trimester. History of a genetic disease in...
When is the test done; Amniocentesis is performed after the 15th gestational week. Why is amniocentesis needed? The commonest indications are: Increased risk for a chromosomal abnormality as calculated by the combined test (the combination of maternal age, ultrasound and biochemical markers) in the first trimester or chromosomal markers in the anomaly scan. History of a...
The combined test in the 1st trimester (that includes the measurement of the nuchal translucency, assessment of the nasal bone, the flow pattern through the tricuspid valve, the flow pattern in ductus venosus and the maternal biochemistry results) detects Down syndrome in about 93- 95%. That means that the rest of the cases cannot be...
What is cystic fibrosis? Cystic fibrosis (CF) is a genetic disease that affect the respiratory (breathing) and gastrointestinal (digestive) system. In CF, the inner space of organs is frequently clogged up by thick secretions (mucous). In Greece, almost 1 child every week is born with CF. Approximately 1 in 20 to 25 people is a...
What is Spinal Muscular Atrophy (SMA)? Spinal muscular atrophy (SMA) is a group of inherited disorders characterized by weakness and wasting (atrophy) in muscles used for movement (skeletal muscles). It is caused by a loss of specialized nerve cells, called motor neurons that control muscle movement. The loss of motor neurons leads to progressive muscle...
Having a child can be one of the most important moments of life! Our wish is that everything goes well and after the pregnancy completion you hold a healthy baby in your arms. Indeed, in the vast majority of cases, everything is fine and babiew born are strong and healthy. However, in a few cases,...
