{"id":21912,"date":"2021-01-28T17:04:57","date_gmt":"2021-01-28T16:04:57","guid":{"rendered":"https:\/\/babywellnessfoundation.org\/come-comincia-vita\/capitolo-7-la-diagnosi-prenatale\/"},"modified":"2025-08-06T09:18:15","modified_gmt":"2025-08-06T08:18:15","slug":"chapter-7-prenatal-diagnosis","status":"publish","type":"come-comincia-vita","link":"https:\/\/babywellnessfoundation.org\/en\/come-comincia-vita\/chapter-7-prenatal-diagnosis\/","title":{"rendered":"Chapter 7 \u2013 Prenatal Diagnosis"},"content":{"rendered":"

When talking about check-ups and examinations during pregnancy, one cannot help but think of another important topic, which is usually close to the heart of would-be parents, namely prenatal diagnosis.<\/strong><\/p>\n

Once, the public health service offered chorionic villus sampling<\/strong> or amniocentesis<\/strong> to all pregnant women aged 35 or older \u2013 and to all those with recognized risk factors. Two invasive tests that consist of withdrawing, with a syringe through the abdominal wall, a sample of placental tissue or amniotic fluid in order to analyze the genetic makeup of the fetus and accurately diagnose possible chromosomal abnormalities, such as Down syndrome, or genetic diseases such as cystic fibrosis.<\/p>\n

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Chorionic villus sampling can be performed between the 10th and 14th week, while amniocentesis is preferably done between the 16th and 18th week. Since 2017, with the approval of the new LEA (Essential Levels of Care), the free offer of CVS or amniocentesis remains available to women with specific risk factors. For all others, regardless of age, between the 11th and 14th week a screening test is recommended that includes an ultrasound measurement of fetal nuchal translucency combined with the so-called “bitest”, a blood test measuring the concentration of two proteins. From the combined result of these two tests, an estimate is obtained of the risk that the fetus may be affected by trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), or trisomy 13 (Patau syndrome).<\/p>\n

The bitest combined with the nuchal translucency measurement<\/strong> does not provide a certain diagnosis, but a risk percentage. If the risk appears high, the woman is offered a free amniocentesis to confirm or rule out the suspicion.<\/p>\n

In recent years, the offer of screening and diagnostic tests has further expanded thanks to advancements in DNA sequencing<\/strong>, which now allow for a review of the entire fetal genome from a sample of amniotic fluid or placental tissue, scanning for the genetic mutations responsible for hundreds of diseases. Thus, the most advanced laboratories offer expecting mothers “super-amniocentesis” or “super-CVS”, promoting their ability to diagnose or rule out most genetic diseases that the fetus may carry.<\/p>\n

Future parents can request testing for the most common genetic diseases, such as cystic fibrosis and congenital deafness, or request analysis of a greater number of genes. The cost of the test varies accordingly, from 600\u2013700 euros to over 1,000, and is not reimbursed by the national health service.<\/p>\n\t\t

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