Introduction
Ultrasound, sometimes called ultrasonography or sonogram, is a medical examination tool for non-intrusive medical imaging. Medical experts such as radiologists use ultrasounds to render images of the internal organs of pregnant women during an antenatal examination. Radiations such as x-rays are generally not utilized during ultrasound procedures. Obstetric ultrasonography is crucial to pregnant women’s prenatal treatment and throughout their pregnancy [1]. Irregular dispensation and high costs of obstetric ultrasound, especially in low-income countries, continue to hamper the utilization of initial pregnancy ultrasound amenities. Ultrasounds are important during pregnancy to examine if the unborn foetus monitors their growth and health. If used properly in the correct settings with qualified, skilled personnel, ultrasounds are important and all-powerful tools [1]. Therefore, the following essay explores different academic materials to reveal the importance of antenatal ultrasound procedures.
During ultrasound procedures, black-and-white images of the internal body organs are produced using sound waves. A device called a transducer produces waves. It uses piezoelectric, which are ceramic substances in nature. They enable the transducer to detect waves that bounce off of body organs. Each reflected sound wave is timed and speeded up by the scanner. This information is used to work out the separation between the transducer and the border. These distances create images. An ultrasound scan before the 24th week is the world health organization’s advocacy for pregnant women to acquire the procedure [2]. It helps, according to the organization, to identify any risks early on before birth. Early and consistent ultrasounds can detect fetus abnormalities. Appropriate interventions can be implemented during the pregnancy period, labour or childbirth. In low-income countries, the availability of ultrasound diagnostics is inadequate, the advantages notwithstanding.
Trisomy 21
In chromosomal abnormalities, trisomy 21 is the most common in babies. Studies conducted on babies born every year, around 5000 are found to be afflicted by Trisomy 21. The disease is a genetic disorder brought on by an extra chromosome. Down syndrome is the other name for trisomy 21. Normally, a baby gets 46 chromosomes, 23 from each parent [2,6]. However, babies with Down syndrome have three chromosomes at location 21 rather than the typical pair. According to research [2,6], trisomy disorders can sometimes be found at 13 or 18. The most prevalent of the three, trisomy 21, affects one in every 700 births. A British doctor named John Langdon Down originally discovered the condition in 1866, and it was afterwards named after him in his honour. The cause of the disease is the additional chromosome 21. Babies affected have their bodies and brains developing abnormally. Older women are usually at a greater risk of giving birth to children with the ailment. Therefore, they are advised to have ultrasounds performed on them to monitor the unborn baby [2].
According to studies [3], down syndrome is a major contributor to Alzheimer’s disease. The app is a gene usually found on chromosome 21. when it triples, however, it is enough to form the basis for Alzheimer’s disease if down syndrome is not present. Research says that nearly 6 million people worldwide suffer from down syndrome. The disease is the most complicated genetic condition corresponding to human existence post-term. Down syndrome in mouse models, according to research [3] taking into account trisomy of all or some of human chromosome 21 or orthologous mouse genomic areas, is shedding light on how triplicated genes or groups of genes contribute to the variety of clinical manifestations of trisomy 21.
Genetic components of down syndrome
Some clinical components of down syndrome are attributed to around 300 genes on chromosome 21. According to Antonarakis et al. [4], some genes found on chromosome 21 and at other places, for instance, polymorphisms of the Down syndrome cell-adhesion molecule and the gene for amyloid precursor protein, exist and play a part in the disparities in clinical expressions. Arising of trisomy 21 takes place in either of two ways, [4] translocating surplus chromosome 21 onto another chromosome or nondisjunction with the availability of 47 chromosomes. There are no huge differences in the clinical characteristics between the two trisomies 21 causes. Other genetic diagnoses include mosaicism of trisomy 21, and partial trisomy 21 typically has less clinical characteristics of down syndrome.
Down syndrome prenatal detection
Prenatal examination of Down syndrome has greatly transformed lately as a result of the development of cell-free during pregnancy screening and similar sequencing of maternal plasma cell-free DNA (cfDNA). The research concludes that the utilization of this non-invasive non-invasive has by far lessened the employment of invasive screening. For a parent who is a translocation carrier and for a woman who is more likely to have an afflicted fetus, Bull [5] asserts that the high specificity of cfDNA for identifying down syndrome, over 99 %is beneficial.
Postnatal detection of down syndrome
From the newborn baby’s appearance, medical care experts usually can figure out the possibilities of down syndrome. Scrutiny that is physical is the most precise way of assessment. The most suitable genetic method assessment is karyotype. Usually, according to a study [5], a karyotype is performed after a FISH trisomy 21 diagnosis to ascertain if a translocation or nondisjunction caused the condition. Possibilities of having another child with Down syndrome for a mother who has had a child with down syndrome highly rely on maternal age, translocation type or karyotype outcome.
Diagnosis for Trisomy 21
Before the child is born, tests are conducted to check for down syndrome. Such tests include chorionic villus sampling (CVS) and amniocentesis. Samples are drawn from the amniotic fluid of a mother for tests in a laboratory in amniocentesis examinations. Apart from examinations before birth, physicians can conduct tests by gauging the child’s appearance if prenatal examinations of trisomy 21 were not performed. The family’s medical history may be examined, among other examinations, to determine the child’s chromosomes. There is no known treatment for down syndrome. However, treatment is recommended if other health complications, such as heart problems, arise [6]. Peripheral medical conditions apart from down syndrome may be discovered and treated.
Antenatal screening
In the last five decades, screening for abnormalities has undergone massive changes, especially as technology advances. Initial trimester examination of a foetus is beyond the screening of trisomies 21, 18 and 13. Exclusive use of cell-free DNA usually does not exploit many fetus health complications. The best approach in the initial trimester is to use ultrasound screening of the unborn baby as a combination of cell-free DNA examination and Nachal translucency measurement [7]. Ultrasound scans on pregnant mothers bear numerous benefits. The range of fetus abnormalities includes a relatively moderate number of common trisomies. Other chromosomal problems, genetic and non-genetic disorders, and fetus structural malformations can all be detected and diagnosed with ultrasound, Kagan et al. [8] argued. Early ultrasound scans increase the chances of discovering fetus issues or anomalies during pregnancy. In obese pregnant women, transvaginal scans can offer better judgement than second-trimester scanning.
In cases where a life-threatening issue is discovered after a far-reaching examination through ultrasounds, the pregnancy, according to Kagan et al. [8], can be terminated early before the pregnancy grows. The procedure is safer, and the mother suffers less trauma and stress. Anatomic ultrasounds performed early in pregnancy are important in a thorough fetus examination. The mother is provided with crucial information regarding the pregnancy very early on. Most to-be mothers would like to know how the unborn baby is faring as it develops in the womb. In countries with high income, regular antenatal ultrasound scans are usually done between the first and third trimesters, according to WHO [9]. In the first trimester, the goal usually is to judge the viability of the foetus, determine the location of the gestational sac and chromosomal anomalies, and measure the age of gestation, among many others. Second-trimester ultrasound examinations allow more study of the unborn baby’s anatomy and anomalies.
Prenatal screening for trisomy 21 and other trisomies established on examination of biochemical markers of serum in pregnant women has become standard practice in most countries. Many biochemical markers have been studied, and pregnancy-associated plasma protein -A or (PAPP-A) and serum human chorionic gonadotrophin (HCG) was very important. The screening of these two together and the screening also of nuchal translucency thickness are conducted at the 11+ 0 to 13 + 16 weeks of pregnancy. Early ultrasound screening is vital for detecting trisomy 21, 18 and 13. The three trisomies are associated with elderly mothers, a higher fetal nuchal translucency, and a lower PAPP-A. Trisomy 21, however, has high serum-free HCG amounts compared to trisomies 18 and 13, which have reduced levels of free HCG.
The world health organization usually recommends an ultrasound examination for pregnant women before the 24-week gestation window. However, women in lower-tier countries experience difficulties accessing antenatal ultrasound services. Although there are few possibilities and long-term implementation frameworks for Ultrasound Screening services, women in lower-tier nations are keen to use and receive obstetric ultrasound screening services during their pregnancy journeys. The deployment of ultrasound services relies on front-line healthcare workers’ training and ongoing coaching. However, access to standardized training materials is a huge challenge. In sub-Saharan African countries, as Matiang’i et al. [10] argue, a huge chunk of women is yet to welcome initial pregnancy ultrasound screening thanks to many challenges ranging from individual factors to limitations in health facilities. The biggest barrier to ultrasound screening access was financial constraints for women in sub-Saharan countries.
Ultrasound procedures are easy and not painful at all. There is little or no preparation, and pregnant women can go for the tests and a few minutes later go about their business. An ultrasound is necessary for any pregnant woman because it allows healthcare givers to monitor the baby’s development without using other harmful ways such as radiation. Correctly performed early ultrasound procedures have the potential to increase gestational period assessment accuracy and precision, allowing for more effective monitoring management of life-threatening preterm births and pregnancies that are post-term. Financial challenges in lower-tier sub-Saharan countries must be addressed to enable more access to ultrasound services for pregnant women. The world health body world health organization recommends an ultrasound scan before 24 weeks to measure gestation age, according to Kim et al. [11]. The recommendations aim to enable more women and girls at the adolescent stage through empowerment so that they can access person-centred antenatal care that is in line with an approach that is human rights-based.
Conclusion
Ultrasonography is another name for ultrasound, a tool used in medical examinations for non-invasive medical imaging. During a prenatal check-up, medical professionals like radiologists utilize ultrasounds to provide images of the internal organs of pregnant women. Generally, ultrasound methods do not include using radiation like x-rays. Pregnant women need first- and second-trimester ultrasound scans for medical doctors to examine the state of the growing foetus and raise the alarm for quick interventions in case anomalies are discovered. Trisomy 21 is the most common chromosomal anomaly in infants. According to studies done on newborns, each year, about 5000 infants are discovered to have trisomy 21. An additional chromosome is the cause of the genetic abnormality. Ultrasound techniques and procedures are usually simple and barely uncomfortable. Pregnant women can undergo scans with little to no preparation and resume their daily activities after a short while. With the world health organization’s antenatal care recommendations, lower-tier countries, especially those in sub-Sahara Africa, should build modern healthcare facilities and encourage pregnant women to attend ultrasound scans. The international community can give impoverished countries financial aid to boost their awareness of antenatal care.
References
1. Importance of ultrasound. Peter Markis: Harley Street Ultrasound Group. [2022 April 5]. Available from: https://www.harleystreetultrasound.com/articles/the-importance-of-ultrasound
2. Lessons Learnt on maternal pregnancy screening in low-resource settings. Phillips Foundation. [2021 June 7]. Available from: https://www.philips-foundation.com/a-w/articles/webinar-mobile-ultrasound-op-ed.html
3. Wiseman FK, Pulford LJ, Barkus C, Liao F, Portelius E, Webb R, Chávez-Gutiérrez L, Cleverley K, Noy S, Sheppard O, Collins T. Trisomy of human chromosome 21 enhances amyloid-β deposition independently of an extra copy of APP. Brain. 2018 Aug 1;141(8):2457-74.
4. Antonarakis SE, Skotko BG, Rafii MS, Strydom A, Pape SE, Bianchi DW, Sherman SL, Reeves RH. Down syndrome. Nature Reviews Disease Primers. 2020 Jan;6(1):9.
5. Bull MJ. Down syndrome. New England Journal of Medicine. 2020 Jun 11;382(24):2344-52.
6. Trisomy 21. Children’s Hospital of Philadelphia. Available from: https://www.chop.edu/conditions-diseases/trisomy-21-down-syndrome
7. Down Syndrome (Trisomy 21) in Children. University of Rochester medical centre. https://www.urmc.rochester.edu/encyclopedia/content.aspx?contenttypeid=90&contentid=p02356
8. Kagan KO, Sonek J, Kozlowski P. Antenatal screening for chromosomal abnormalities. Archives of Gynecology and Obstetrics. 2022 Apr;305(4):825-35.
9. World Health Organization, 2022. WHO antenatal care recommendations for a positive pregnancy experience: maternal and fetal assessment update: imaging ultrasound before 24 weeks of pregnancy.
10. Matiang’i M, Joosse K, Ngunju P, Kiilu C, Harkx R, Hangelbroek M, Omogi J. Barriers and enablers that influence utilization of ultrasound screening services among antenatal women in Kajiado and Kisii counties Kenya.
11. Kim ET, Singh K, Moran A, Armbruster D, Kozuki N. Obstetric ultrasound use in low- and middle-income countries: a narrative review. Reproductive health. 2018 Dec; 15:1-26.
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