Prenatal diagnosis (A Review)

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Maryam Nakhaee Moghadam
Marzie Davoodi

Keywords

Prenatal, diagnosis

Abstract

In 2 to 3% of pregnancies, congenital malformations are diagnosed during pregnancy or shortly after birth. These abnormalities, with surpassing premature birth, are the most common cause of death in infants in the United States and account for 20% of these deaths (1). Preventive diagnosis, diagnosis of malformations, fractures, and chromosomal anomalies are some of the most important genetic syndromes in the fetus. Components included within the category of prenatal diagnosis include typical screening tests to find an aneuploidy and neural tube defects, invasive diagnostic tests such as percutaneous and amniocentesis sampling, screening and diagnostic tests suggested to individuals exposed to a specific genetic disorder, and the diagnosis of structural malformations with the help of specialized ultrasound and other methods of embryo imaging. The AFP screening of the mother's serum generally takes place between weeks 15 and 20. This should be done through the protocol, including quality control, consultation and follow- up. The amount of AFP is measured in nano-grams per milliliter and is reported by the median number (MoM) of the non-affected population. Converting outcomes to MoM standardizes AFP level distribution and allows comparison of results from different communities and labs percent reported.

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