Seguro Natal

Seguro Natal

Non-Invasive Prenatal Testing

What does it entail?

Non-invasive prenatal genetic testing in maternal blood is a feasible analysis starting from the 10th week of gestation. It allows for the detection of genetic abnormalities in the fetus through a sample of maternal blood, being safe for both the fetus and the mother.

It is applicable in both twin pregnancies and pregnancies conceived through assisted reproductive techniques involving gamete donation.

What is its purpose?

The test evaluates the risk of fetal trisomies for chromosomes 21 (Down syndrome), 18 (Edwards syndrome), and 13 (Patau syndrome) with a detection accuracy of over 99% and CE certification for trisomy 21.

For the expanded test, all chromosomes and 38 microdeletion or microduplication syndromes are investigated, with a resolution greater than 5Mb (see syndrome information table).

Limitations

The main limitation of non-invasive prenatal testing is that, despite its high sensitivity, it does not constitute a conclusive diagnosis. Confirmation through genetic amniocentesis is needed for an abnormal result.

If diagnostic confirmation is required, amniotic fluid is analyzed using QF-PCR, with rapid results (24-36 hours), for the detection of trisomies 13, 18, 21, and sex chromosomes at no additional cost.

Who is this test for?

This test is recommended for any pregnant woman, as its sensitivity for detecting chromosomal abnormalities is much higher than that of routine screenings.

It is especially indicated for patients with an altered combined screening or a history of genetic abnormalities.

Types of Tests

Basic Expanded
Genetic Counseling
Trisomy 21 (Down Syndrome)
Trisomy 13 (Patau Syndrome)
Trisomy 18 (Edwards Syndrome)
Fetal Sex
Sex Chromosome Abnormalities
Study of all chromosomes
38 Microdeletion or Microduplication Syndromes*

*Studied microdeletion syndromes (size greater than 5Mb): 1p36, 1p32p31, 1q32-q41, 2q33.1, 2p12p11.2, 3pter-p25, 4p16.3, 4q21, 5q12, 5p15 (Cri-du-Chat Syndrome), 5q14.3-q15, 6pter-p24, 6q11-q14, 6q24-q25, 8q24.11-q24.13 (Langer-Giedion Syndrome), 9p, 10p14-p13 (DiGeorge Syndrome 2), 10q26, 11p11.2, 11q23-qter (Jacobsen Syndrome), 11p13-p12 (WAGRO and WAGR syndromes), 14q11-22, 14q22 (including Frias Syndrome), 15q26-qter (Congenital diaphragmatic hernia type I and Drayer Syndrome), 15q11-q13 (Angelman and Prader Willi syndromes), 16p12-p11, 16q22, 17p13-p11.2 (Miller-Dieker and Smith-Magenis), 18p, 18q, and 22q11.2 (DiGeorge Syndrome).

*Studied microduplication syndromes (size greater than 5Mb): 15q11-q13, 17p12-p11 (Yuan-Harel-Lupski and Potocki-Lupski syndromes), and 17p13.3.

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