Tests For Congenital Genetic Disorders

First of all, let us understand problems caused by congenital disorder in young people or adults. About 25% of perinatal deaths per year are caused by congenital disorder. Genetic disorder or congenital malfunctions can be diagnosed during early pregnancy. Tests for congenital disorders can be diagnosed using various invasive and non-invasive techniques.

The type of test that may be conducted on a patient is determined by the health conditions. Congenital disorder can also cause abnormality in an unborn foetus. Let us focus on the techniques used or screening tests for congenital disorders.

Invasive techniques to check abnormality

  • Fetal visualization (Embryoscopy and Fetoscopy).
  • Fetal Tissue sampling such as Amniocentesis, Chorionic Villus Sampling (CVS), percutaneous umbilical blood sampling (PUBS), Percutaneous skin biopsy and other tests to check problems in liver and body muscles.
  • Preimplantation biopsy of blastocysts obtained by vitro fertilization.
  • Cytogenetic investigations such as detection of chromosomal aberrations and fluorescent in situ hybridization.
  • Molecular genetic techniques such as linkage analysis using microsatellite markers, restriction fragment length polymorphism (RFLPs), single nucleotide polymorphisms (SNPs), etc.

Test for congenital disorder or non-invasive techniques and treatment processes include

  • Fetal visualization such as Ultrasound, Fetal echocardiography, Magnetic Resonance Imaging (MRI) and Radiography
  • Neural tube defects must be screened while checking for congenital disorders. This includes measuring maternal serum alpha-fetoprotein (MSAFP).
  • Screening test for fetal Down syndrome.
  • Measuring maternal serum beta-human chorionic Gonadotropin (HCG).
  • Separation of fetal cells from the mother’s blood.
In order to check for congenital disorder, it is a must for the patients to undergo ultrasound and fetal anatomy. Ultrasound can detect whether the mother or the new born child is suffering from congenital disorder or not. Ultrasound is a vital procedure for detecting various deadly diseases like gastrointestinal, skeletal and abnormality in the central nervous system, congenital cardiopathies, genitourinary, etc. At 5 weeks gestation and beyond, it is essential to perform fetal echocardiography. This is done in order to check for cardiac defects and congenital symptoms in a newborn child.
One of the vital tests to check for genital disorder is MRI. Powerful magnets and radio waves are used to construct images of the body. In fact, it is an imagining technique which is used to detect prenatal problems that are related to congenital disorder. Radiography is performed to check fetal skeleton dysplasias after 10 weeks of gestation. This is also known by another term that is osteochondroysplasia. It is important to measure maternal serum during the process of congenital disorder test. This can detect whether the disease can be transmitted to the child or not.

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