Prenatal Diagnosis-Screening Combined First Quarter (III)

Screening can identify congenital heart disease.

What are the advantages of combined first trimester Screening?

Combined first trimester screening confirm an intrauterine pregnancy in the first trimester and the exact dating of gestation time (3 to 5 days). You can also get an early diagnosis of multiple pregnancy. Other advantages are that it is possible to detect whether there is enlargement of the neck translucency (NT), and also to be able to perform the screening of congenital heart disease.

Have high rates of detection of Trisomy 21 and low rates of false positives for Trisomy 21, pregnant women usually prefer early prenatal diagnosis and possible early IMG is an extra security and earlier about the current pregnancy and prenatal screening reduces the anxiety that normally exists on the part of parents, allowing pregnancy results from a quiet way.

What is trisomy 21, or Down syndrome?

The trisomy 21 is a genetic alteration, caused by the presence of an extra chromosome 21 and is also known as Down syndrome or chromosomal abnormalities. Is chromosomal alteration more often found in a newborn alive and is the most frequent cause of mental retardation in children, the most recent data indicate that this change affects about 1:00 pm every 700 births, in the absence of screening.

Morphological changes and organic features which are known to lower deployment of pinna (auricle), nasal hypoplasia (hypoplasia is the decreased activity of organic tissues forming), folds of the epicanthic fold (fold the upper eyelid skin covering the inner corner of the eye), very wide space between the first and second finger, palmar crease, heart defects and changes. Normally the life expectancy does not exceed the 50-55 years.

The risk of Trisomy 21 increases with maternal age, especially from the 35 years however, most babies with Down syndrome are born to young parents wearing maternity footwear, healthy and without any known risk factor. Usually the Down syndrome is not inheritable, a child can be born with trisomy 21 even when there are no cases in the family.

What is Trisomy 13 or Patau syndrome?

The trisomy 13 or Patau syndrome is caused by the presence of a chromosome 1:00 pm, affects about 1 in 20000 pregnancies and in most cases, is related to increased maternal age.

The fetus with Trisomy 13 is associated with typical morphological features such as sharp mental retardation and severe malformations (Central nervous system, cardiac, renal and Eyepieces). Most infants die in the first month of life or in the first 6 months.

In a next article we will analyze the pathology of Edwards syndrome, address the issue on the open neural tube defects (NTDS) and also the question of what the analyses to perform before a pregnancy.