Down syndrome—a genetic disease—is when the baby is born with an extra copy of chromosome 21. Down syndrome results in mental retardation, with other lifelong disabilities and health issues. The life expectancy of people with Down’s can shorten as a result of the complications of the latter. However, the management options are now much improved for people with Down’s and people can have fulfilling lives. The risk of Down’s is increased with certain factors, which is why parents are often concerned about prenatal investigations that can detect Down’s. One such investigation is the anomaly ultrasound scan, available at clinics that also perform x ray in lahore.
Who is at the Risk of Down’s?
According to the Centers for Disease Control and Prevention (CDC), the odds of mothers aged 35 and above to have a child with Down’s is much higher in comparison to young mothers. Similarly, fathers aged 40 and above were found to have twice the chance of having a child with Down’s as per a 2003 study by Columbia University researchers. Parents are also concerned if they already have a child with Down’s or if there is a family history of Down Syndrome.
What Prenatal Tests can Detect Down’s Syndrome?
Healthcare providers can perform investigations that can detect if the baby has Down’s during the pregnancy. These investigations include an ultrasound scan, serum levels of certain markers known as the triple and quadruple screen, the chorionic villous sampling (CVS), amniocentesis and percutaneous umbilical cord sampling.
Radiological Tests for DOWN’S
Because ultrasounds work by using sound waves to generate an image of the baby, it is the safest and the most non-invasive prenatal investigation for the detection of Down’s syndrome. The screening scan for the detection of Down’s is performed during 10 and 13 weeks of pregnancy and the results are corelated with the other maternal investigations.
During this ultrasound, the gestational age of the baby is determined, and the nuchal translucency (NT) is measured. NT is the space at the back of the baby’s neck and it is used to measure the risk of Down’s.
Triple and quadruple screen: Serum maternal markers, like PAPP-A, ß-hCG, inhibin A and alpha fetoprotein, are certain proteins in the mother’s blood that show the likelihood of Down’s and other hereditary disorders in the baby. Triple screen refers to the three markers in the maternal blood that are tested during the first trimester, and the quadruple screen refers to the four markers that are tested. These investigations are used together to assess the collective risk of Down’s. Triple screen is performed at 10 weeks and thereabouts while the quadruple marker screen is performed between 15 and 20 weeks.
Following the screening ultrasound, another more detailed ultrasound scan is performed between 18 and 20 weeks, known as the anomaly scan.
Is There any Treatment for Down’s?
A team of specialists for medical care is needed in case of Down’s. Early intervention can make a big difference in improving the quality of life of a Down’s patient and it is possible only in case of the right prenatal investigation as recommended by a certified healthcare professional. It is important to get the screening ultrasound and the anomaly scan done at the suggested weeks of gestation at a radiological clinics like those that offer x ray in karachi.