Performing Biochemical Studies a Double Marker Test of the First Trimester, it is possible to establish the probability that the fetus presents some genetic affection. Likewise, it is possible to identify possible complications in pregnancy such as premature delivery and fetal loss pre-eclampsia. These studies will performs by measuring the concentration of hormones in the maternal blood analyzation in conjunction with the fetus’s structural measurements by ultrasound.
Table of Contents.
About Double Marker Test
It is a non-invasive study. That performs with a blood sample from the mother. It consists of measuring the plasma hormone concentration of the Beta fraction of Human Chorionic Gonadotropin (B-hCG) and Pregnancy-Associated Plasma Protein-A (PAPP-A), in conjunction with the ultrasound measurement of nuchal translucency. And the nasal bone. The study can only be performed between weeks 11 and 13.4 of gestation. As a result, the risk calculation that the fetus has a defect is reported. If we calculate this risk, three types of markers are used:
It is a screening test carried out in the first trimester of pregnancy, between 10.0 and 13.6 weeks of gestation, calculated by ultrasound or by date of the last safe and reliable menstruation. It does not diagnose only the probability of high or low risk of fetal chromosome alteration. Its main objective is to detect pregnancies with a higher risk than expected for disorders such as Trisomy 21 (Down syndrome), Trisomy 18 (Edwards syndrome), and Trisomy 13 (Patau syndrome).
What is the double combo scoreboard?
It is the biochemical quantification of the Pregnancy Associated Plasma Protein (PAPP-A), the free subunit of Chorionic Gonadotropin (ᵝhCG), and its interpretation in multiples of the median (MoM). By combining these determinations with the measurement of nuchal translucency (TN) obtained by ultrasound by a certified physician, the study has a detection rate of 84% with a false positive rate of 5%.
What is the study about A Double Marker Test?
In the Genetics Unit, the biochemical quantification and the interpretation and correction are carried out in multiples of the median (MoM) according to the patient’s gestational age and the variables contained in the questionnaire that accompanies the serum obtained from the patient. Hence, this data (MoM) which provide to the certifies physician who has a risk calculation program and issues the final result delivered to the patient.
When it can indicate?
- As it is a screening study. So, it recommends to perform it for all pregnant women regardless of age.
- The woman must have a gestational age between 10.0 to 13.6 weeks of gestation.
What type of sample will require?
They will take 5 ml of maternal blood without anticoagulant , By keeping it separating from the serum and refrigerate for up to 72 hours. A simple questionnaire will complete: date of last menstruation or gestational age by ultrasound, date of birth, weight, and history.
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What information will the study give about A Double Marker Test ?
As it is a screening study. So, it will indicate a high or low-risk probability for trisomy 21, 18, and 13. If the risk is high, They will suggests for fetal karyotype which confirms through a diagnostic test in pregnant women, such as ancients or biopsy, of chorionic villi.
How long are results deliver?
Five business days.
At Bimodi, we offer the Duo Marcador study that carries out between week 11 and 13.4. Simultaneously, as the sample collection, the ultrasound analysis will carries out, On suggestion of primarily by a maternal-fetal doctor.
Characteristics of some diseases that this test can detect:
Trisomy 21 is the cause of Down syndrome, which associates with mild to moderate intellectual disability and can also lead to digestive problems. Hence, congenital heart defects, and a predisposition to cancer development. It is about 1 in 740 newborns have Down syndrome.
Trisomy 18 causes Edwards syndrome and is related to a high degree of miscarriage. Babies born with Edwards syndrome can have various medical problems and a short life span. It has projection of that nearly 1 in 4,800 newborns have Edwards syndrome.
Trisomy 13 causes Patau syndrome and is associates with a high rate of miscarriage. Babies born with trisomy 13 usually have thoughtful hereditary heart defects and other remedial problems. Survival after the first year of life is rare. It has estimation of that about 1 in 16,000 newborns have trisomy 13.
When to do Double Marker Test
When biochemical studies reveal a high probability that the fetus has a genetic defect. So, it is advisable to confirm by studying the DNA of fetal origin cells.
These cells will collect from a sample of amniotic fluid (4-10 ml obtained by amniocentesis) or from a chorionic villus biopsy.
However, obtaining these last two types of samples is risky and endangers the fetus. So the safest techniques so far are those in which the mother’s blood will use.
It is essential to indicate that almost 50% of babies born with Down syndrome suffer from congenital heart defects. Advance knowledge of aneuploidy allows you to schedule the appropriate tests and obtain the appropriate treatments for this disorder. In other words, early detection of aneuploidy can be a critical factor in saving the baby’s life.