Prenatal Diagnosis-Screening Combined Q1 (IV)

By Germano de Sousa.

What is Trisomy 18 or Edwards syndrome?

The Trisomy 18 or Edwards syndrome have a higher incidence in females and is caused by the presence of a chromosome 6:00 pm and affects about 1 in 8000 pregnancies and, as in Trisomy 13, in most cases is correlated with increasing maternal age.

The fetus with Trisomy 18 is associated with typical morphological features such as, mental retardation, coroideu Plexus cyst, intrauterine growth delay (ACLU), cleft palate (opening of the lip or roof of the mouth), malformation of extremities, esophageal atresia (narrowing or complete obstruction of the lumen of the oesophagus), heart defects, kidney malformations, exomphalos (malformation resulting from the non-return of the intestine to the abdominal cavity) , diaphragmatic hernia.

What are Open Neural Tube Defects (NTDS).

Open Neural tube defects (NTDS) are a group of malformations of the brain and spinal cord. In the absence of prenatal Screening, about every 2000 babies is born 1:00 pm with DTN.

The Anencephaly and spina bifida are the most common NTDS. Anencephaly is a very serious defect that occurs when the skull and the brain do not develop properly, and the baby die hours or days after the birth. Babies with spina bifida have an opening in the neural tube and present anomalies with varying degrees of severity according to providing maternity jackets.

Most of the times feature serious malformations that require hospitalization and surgery, the most frequent are weakness or paralysis of the legs, loss of control of the bladder or intestines, Hydrocephalus (excess fluid variety) and less often mental retardation. To prevent the pregnant should take folic acid. Stress that the prenatal Screening of the Q1 does not apply to defects of the neural tube.

Which the analysis that must be carried out before a pregnancy?

The woman when thinking of becoming pregnant should consult your Gynecologist obstetrician, must perform a series of tests in advance, in order to check your general health condition and to guarantee a safe pregnancy. The father must also perform analyses, make the diagnosis of infectious diseases and General.

In a next article we will check which analyses the effect during pregnancy, what the expected time for delivery of the biochemical test results and where you can perform the harvest to completion of their exam.