Conventional first-trimester screening allows the detection of the most frequent chromosomal changes in the fetus during pregnancy. This type of screening is mainly aimed at the detection of Down Syndrome (T21), Patau (T13) and Edwards (T18), with a sensitivity of 85-95% for these syndromes, with a false positive rate <5%. Technological advances in DNA analysis allowed the development of noninvasive prenatal screening tests (NIPT) based on the study of free fetal DNA in maternal blood, capable of studying different chromosomal conditions with greater sensitivity and specificity without generating risk for the mother and the baby.

The NIPT analyzes a blood sample from the mother to determine the risk of chromosomal changes in the fetus during gestation. There are 4 different analyzes that can be requested according to the aim:

NeoBona:
• For single and twin pregnancies
• Trisomies 21, 18, 13 + Fetal Gender (single pregnancies)

NeoBona Advanced:
• For single pregnancies
• Trisomies 21, 18, 13 + Fetal Gender + Aneuploidies X, Y

Expanded Prenatal Test:
• For single pregnancies
• Trisomies 21, 18, 13 + Fetal Gender + X, Y aneuploidies
• Microdeletion panel

Expanded Prenatal Test + all chromosomes:
• For single pregnancies
• Trisomies for all chromosomes + Fetal Gender + X, Y aneuploidies
• Microdeletion panel

Pregnant women with at least 10 gestational weeks (≥ 10 + 0/7) in the following situations:
• Single or twin pregnancies*
• FIV pregnancy
• Donation of gametes
• Reabsorbed twins
* For twin pregnancies, only the 5289 test can be performed

Neobona and Neobona Advanced: Next Generation Sequencing (NGS)
Expanded Prenatal Test and Expanded Prenatal Test + all chromosomes: Whole genome sequencing (WGS)