• June 20, 2024

Patau syndrome it turns out with a prenatal screening exam

Patau syndrome, it turns out with a prenatal screening exam

Pregnancy involves a series of physical and psychological changes that totally involve future mothers. These changes are due to the presence of a new life in the belly. It is important to keep the health of pregnant women and children under control, so doctors recommend carrying out checks and prenatal diagnosis exams or non -invasive prenatal screening tests.

Prenatal Screeing to discover Patau syndrome

Prenatal screening tests allow to identify the possible presence of a chromosomal anomaly in the fetus, with specific percentages of reliability. Anomalies can be numerical or structural. The numerical ones provide for a variation of the number of chromosomes, which involves characteristic syndromes, such as trisomy 21, or Down syndrome, trisomy 18, or Edwards syndrome, and trisomy 13, or Patau syndrome.

Structural anomalies determine modifications of the chromosome structure, such as microdelections (loss of small regions of the chromosome).

Patau syndrome is characterized by the presence of three copies of chromosome 13 and has an incidence of 1/20.000 born. The pathology took its name from the doctor Klaus Patau who in 1960 observed a newborn with serious malfomations and a cariotype of 47 chromosomes, and is particularly rare but has the highest mortality rate before and after childbirth 1 .

The pathologies of the Patau syndrou

Patau syndrome individuals, clinically, present the following characteristics:

  • Clear of the eye at a structural level
  • motor disorders
  • mental delay
  • deformation of the feet
  • Overlapping fingers 1

Usually children with Patau syndrome have parents with an age around 32 years old, greater than that of parents of children not suffering from this syndrome. It is not possible to determine whether the origin of the extra chromosome is maternal, paternal or arrivals from both parents, as it is a very rare anomaly 2 .

Screening is not invasive

Each woman can choose to carry out a non -invasive prenatal screening exam by evaluating the different reliability rates and taking into account what you want to have information on the health of the child. These are exams that can be carried out at different times during pregnancy and are very safe for the health of mom and baby.

From the 10th week, the pregnant woman can undergo the fetal DNA test that allows you to detect, with an reliability of 99.9%, the percentage of probability for which the fetus is not affected by a chromosomal anomaly such as the trisomies (syndrome of Down, Edwards and Patau). The exam consists of a simple blood sample of the mother from whom the fragments of fetal DNA are analyzed.

Bi test together with the nucal translucence

Betting the Bi Test can be carried out between the 11th and 13th week together with the nucal translucence (an ultrasound exam). An exam with an reliability ranging from 85% to 90% about 3 . Between the 15th and 17th week the pregnant woman can undergo the TRI test, whose reliability reaches approximately 60%.
If the screening exam is positive and detects the possible presence of a chromosomal anomaly, it is important to deepen immediately to confirm or deny the result with a diagnostic examination, such as amniocentesis or villocentesis.

Women must always remember to contact their gynecologist to do the situation together and understand which exam is most suitable.
To find out more about the non -invasive prenatal test of the fetal DNA: www.Testprenalealeurora.IT

Edited by: genetic source press office


1) L. G. Perrone, principles of medical genetics, 2016
2) W. S. Klug, m. R. Cummings, c. TO. Spencer, concepts of genetics, Pearson – Preetice Hall, 2007
3) Medicine of the prenatal age: prevention, diagnosis and therapy of congenital defects and the main pregnant pathologies -of Antonio L. Borrelli, Domenico Arduini, Antonio Cardone, Valerio Ventrut