Prenatal diagnosis.
With the leaping advances in knowledge of genetics, its applications in patient management are also increasing. Prenatal diagnosis is the most useful application as it offers prospective parents the assurance of having an unaffected child in situations of high recurrence risks. Pretest and post test counseling is an integral part of prenatal diagnosis. All Pediatricians and Obstetricians should be familiar with the basic prerequisites of prenatal screening/testing. Timely referral, preferably pre-pregnancy is important. There is more or less a consensus regarding offering prenatal diagnosis for lethal/chronic disabling or difficult/expensive to treat conditions. Ethical issues are already around regarding prenatal testing for disabilities like deafness and late onset disorders. The present communication is an effort to present the clinician's perspective of prenatal diagnosis.
Kabra
Madhulika
M
Department of Pediatrics, Genetics Sub-Division, All India Institute of Medical Sciences, New Delhi. madhulikakabra@hotmail.com
D000649:Amniocentesis; D015415:Biomarkers; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics; D005820:Genetic Testing; D006467:Hemophilia A / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis / Q000235:genetics; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis / Q000379:methods*; D016216:Ultrasonography, Prenatal; D000509:alpha-Fetoproteins / Q000032:analysis; D017086:beta-Thalassemia / Q000175:diagnosis / Q000235:genetics
D015415:Biomarkers; D000509:alpha-Fetoproteins