Prenatal detection of the risk of Down syndrome Clinical case report

Abstract

Introduction: Down syndrome is the most common human chromosomopathy and the main cause of congenital intellectual disability, although it can occur at any maternal age, age over 35 years has been established as one of the main risk factors, currently it has been Established screening programs to improve early prenatal detection rates, the Expanded Combined Test screening, which consists of primary and secondary ultrasound markers and biochemical markers associated with maternal age, has a detection rate of 93% with a false positive rate of 2.5%.

Objective: To describe the case of a patient with early detection of high risk of Down Syndrome in the pregnancy through the extended combined test of the first trimester and its confirmation in the newborn.

Materials and methods: Descriptive, retrospective study, clinical case report.

Results: A 43-year-old pregnant patient with no significant pathological history. In the first trimester screening, a high risk of Down syndrome of 1/4 was reported with the use of the expanded combined test, although the confirmatory cytogenetic study test was not performed, the patient attended the delivery with a high suspicion of a fetus with trisomy 21. At birth, the diagnosis is verified with the neonate's phenotype and confirmed with the 47, XX+21 karyotype study.

Conclusions: Although chromosomopathies increase with maternal age, it is recommended to carefully screen all pregnant women in the first trimester for aneuploidies, applying the extended combined test due to its high detection rate and low false positive rate.