Prenatal screening: perspective for the pediatrician

Seema Kapoor1, Sangeeta Gupta, Madhulika Kabra

  • 1Departments of Pediatrics amd #Gynecology and Obstetrics, MAMC and associated Lok Nayak Hospital; and *Division of Genetics, Department of Pediatrics, AIIMS; New Delhi, India. Correspondence to: Dr Seema Kapoor, Division of Genetics, Department of Pediatrics, MAMC and associated Lok Nayak Hospital, New Delhi 110 002, India. drseemakapoor@gmail.com.

Indian Pediatrics
|January 7, 2015
PubMed

Insights

Pediatricians should understand prenatal screening for genetic disorders like Down Syndrome. Early detection during pregnancy empowers parents and informs future family planning decisions.

Area of Science:

  • Medical Genetics
  • Obstetrics
  • Pediatrics

Background:

  • Pediatricians are often the first to diagnose genetic disorders in children, such as Down Syndrome.
  • Parents frequently express a desire for prenatal detection and prevention of such conditions.
  • This highlights a gap in pediatrician knowledge regarding prenatal screening.

Purpose of the Study:

  • To emphasize the importance of pediatricians understanding prenatal screening methods for genetic disorders.
  • To inform pediatricians about current screening strategies available during pregnancy.
  • To equip pediatricians with knowledge to address parental concerns about genetic conditions.

Main Methods:

  • Review of current literature on prenatal screening for genetic disorders.
  • Analysis of diagnostic pathways for conditions like Down Syndrome.
  • Assessment of parental expectations regarding genetic disorder detection.

Main Results:

  • Prenatal screening offers opportunities for early detection of genetic disorders.
  • Pediatricians play a crucial role in counseling parents about screening options.
  • Knowledge of screening methods can aid in better parental support and future planning.

Conclusions:

  • Enhanced understanding of prenatal screening is essential for pediatricians.
  • Integrating knowledge of screening strategies improves patient care for genetic disorders.
  • Pediatricians can better support families by being informed about prenatal diagnostic options.

Related Concept Videos

Preventive Healthcare Services01:30

Preventive Healthcare Services

Preventive healthcare services keep people healthy via frequent check-ups, screening, and counseling. They primarily aid in disease prevention rather than treating an acute or chronic illness. Preventive treatment also keeps individuals productive and energetic, allowing them to work well into their retirement years. Examples of preventive care services include:
2.3K
Genetic Screens02:46

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
5.9K
Pharmacokinetics in Pediatric Patients: Drug Excretion01:26

Pharmacokinetics in Pediatric Patients: Drug Excretion

In pediatric medicine, understanding the renal function and drug elimination nuances is crucial for administering safe and effective treatments. Newborns, in particular, display markedly slower renal functions than adults, profoundly affecting how drugs are cleared from their bodies. This slower drug clearance requires clinicians to extend the dosing intervals for many medications to prevent drug accumulation and toxicity while ensuring therapeutic efficacy.One key area where these adjustments...
391
Pharmacokinetics in Pediatric Patients: Overview and Drug Absorption01:23

Pharmacokinetics in Pediatric Patients: Overview and Drug Absorption

Understanding the physiological differences in the pediatric population is crucial for effective pharmacotherapy. Neonates, infants, and children exhibit significant variations in gastric pH, gastric emptying time, intestinal transit time, and biliary function. These variations profoundly affect oral drug absorption, necessitating a nuanced approach to pediatric dosing.Neonates present with a unique physiological profile, having a gastric pH greater than 4 and faster and more irregular gastric...
886
Pharmacokinetics in Pediatric Patients: Drug Metabolism01:24

Pharmacokinetics in Pediatric Patients: Drug Metabolism

In pediatric care, understanding the nuances of hepatic drug metabolism is crucial, as it significantly differs from that of adults. This divergence is primarily due to the developmental stage of drug-metabolizing enzymes, which affects how medications are processed in the body. In neonates, for instance, the activity of Phase I enzymes—critical for the initial breakdown of drugs—is markedly reduced, functioning at just 20–40% of the levels seen in adults. This reduction poses...
371
Sensitivity, Specificity, and Predicted Value01:13

Sensitivity, Specificity, and Predicted Value

In healthcare diagnostics, laboratory tests play a crucial role in identifying and diagnosing a wide range of medical conditions. However, interpreting test results is not always straightforward. An abnormal test result does not always confirm the presence of a disease, just as a normal result does not guarantee its absence. To assess the reliability of these diagnostic tools, healthcare practitioners rely on two key statistical indicators: sensitivity and specificity.
Sensitivity is the...
1.9K