Prenatal
EARLY COMBINED PRENATAL SCREENING AND EARLY PRENATAL DIAGNOSTICS
THE COMBINED SCREENING AND EARLY PRENATAL DIAGNOSTICS HAVE THREE MAJOR ADVANTAGES:
1. From a technical standpoint the biochemical markers assayed at weeks 9 and 10 of pregnancy have more discriminating power allowing higher detection rates.
2. MLPA, QF-PCR or FISH Technique – Search for most frequent chromosomal alterations such as Trisomy 21 in 24 - 48 hours; and Prenatal + (frequent aneuploidies and 9 microdeletion syndromes in 48-72 hours)
3. This sequence allows for timely management of the diagnostics options regarding prenatal care.
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PRENATAL +
Rapid prenatal diagnosis of Down syndrome and the most frequent chromosomal syndromes.
This analysis is suitable for any couple who wants to make a prenatal diagnosis with much more information about their baby. These microdeletion syndromes are not associated with maternal age, so all women have a risk for having a baby with one of these diseases.
Furthermore, conventional karyotyping fails to detect these syndromes.
Simultaneously, the analysis allows for rapid detection of the most
common cytogenetic abnormalities such as trisomy 21.
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PRENATAL DIAGNOSIS PLUS +
WHY PND plus+
Using the most recent technologies, and in a single fetal sample, it is possible to perform a larger number of genetic prenatal testing for congenital diseases.
This approach is designed to improve the capability of performing the prenatal diagnosis. A negative result does not exclude the possibility of being carrier of a mutation not included in this panel. This technical contribution does not intend to be an alternative but a valuable complement to clinical examination.
If there is a positive familiar history for genetic disorder with known etiology, specific prenatal diagnosis of the disease should be performed.
PND plus+ results should be carefully evaluated and presented to the couple in the Diagnosis and Genetic Counselling consultation.
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