Women's Laboratory

Prenatal Diagnosis

The Germano de Sousa Laboratory Medicine Center is certified by the Fetal Medicine Foundation (FMF), the world’s leading authority in the field of maternal-fetal medicine and research, directed and coordinated by Prof. K. Nicolaides, and is thus an FMF international reference laboratory.

Germano de Sousa - Fetal Medicine Foundation

First-Trimester Combined Screening

First-Trimester Combined Screening is an early screening test designed to assess the risk of the fetus having Trisomy 21 (Down syndrome), Trisomy 18 (Edwards syndrome), and Trisomy 13 (Patau syndrome).

This screening combines information from an ultrasound exam and a biochemical test.

The biochemical test measures the levels of two substances in the mother’s blood: PAPP-A (Pregnancy-Associated Plasma Protein A) and free ß-HCG (free subunit of human chorionic gonadotropin), both of which have high sensitivity and specificity for screening for the aforementioned abnormalities.

The ultrasound examination allows for the accurate determination of gestational age based on the crown-rump length (CRL), the precise measurement of the nuchal translucency (nuchal translucency—NT), and assess the presence of the nasal bone (NB).

The first-trimester combined screening should be performed between the 11th week and the 13th week plus 6 days of gestation. According to the FMF, it allows for the detection of 97% of cases (in conjunction with ultrasound), with a false-positive rate of 3%; this is a factor of the utmost importance for the couple to consider when deciding whether or not to undergo an invasive test.

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Diagnóstico Pré-Natal - Rastreio combinado do 1º trimestre

First-Trimester Preeclampsia Screening

This screening allows for the early identification of a pregnancy at high risk for preeclampsia and increases the likelihood of a better prognosis for the pregnancy.

Read the full article on Preeclampsia Screening—1st Trimester

Harmony™ Prenatal Test

This test represents the latest advancement in the field of non-invasive prenatal diagnosis for screening for the three main trisomies (T21, 18, 13) and aneuploidies related to the sex chromosomes (X and Y).

It is performed simply and safely using a sample of the mother’s peripheral blood and provides highly accurate results.

The Harmony™ Prenatal Test uses a technology (DANSR™) that analyzes fragments of cell-free fetal DNA circulating in the mother’s blood; this direct analysis method is what gives the test its high accuracy and reliability as a screening test.

As a result, the Germano de Sousa Laboratory Medicine Center now offers, to all pregnant women starting at 10 weeks of gestation, the non-invasive prenatal screening test, which offers the highest detection rates (>99%) for the major trisomies and a false-positive rate of less than 0.1% for trisomies 21, 18, and 13.

See the full article on the Harmony™ Prenatal Test