Rapid and non Invasive Prenatal Diagnosis
| Autor: | P Dimcev, Svetlana Kocheva, I Maleva, E Sukarova-Stefanovska, Svetlana Madjunkova, Dijana Plaseska-Karanfilska, Sanja Kiprijanovska, M Madjunkov, K Stankova, P Noveski |
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| Rok vydání: | 2012 |
| Předmět: |
Pediatrics
medicine.medical_specialty Fetus 030219 obstetrics & reproductive medicine medicine.diagnostic_test business.industry Chorionic villus sampling Prenatal diagnosis Articles QH426-470 medicine.disease Therapeutic abortion 3. Good health Miscarriage 03 medical and health sciences 0302 clinical medicine Genetics medicine Amniocentesis Gestation 030212 general & internal medicine False positive rate business Genetics (clinical) |
| Zdroj: | Balkan Journal of Medical Genetics, Vol 15, Iss Supplement, Pp 39-43 (2012) Balkan Journal of Medical Genetics : BJMG |
| ISSN: | 1311-0160 |
| DOI: | 10.2478/v10034-012-0017-8 |
| Popis: | Prenatal screening and diagnosis are routinely offered at antenatal care clinic visits, and are im-portant in decision making about the continuation of pregnancies affected by genetic conditions for which there are no cures, and prevention through therapeutic abortion is a reasonable option. Prenatal screening is offered to all pregnant women and include fetal ultrasonography and maternal se-rum biochemistry to select the pregnancies at-risk for chromosomal abnormalities. However, these methods have limited sensitivities (60.0-75.0%) and specificities (false positive rate of 5.0%). Even when used in combination and taking into account maternal age, the identification rate of affected fe-tuses does not exceed 90.0% [one]. Prenatal diag-nosis is usually preformed for detection of chromo-somal aneuploidies or monogenic diseases in “high risk” pregnancies. Diagnostic testing currently requires a sample of fetal cells obtained either by chorionic villus sampling (CVS) between 10 and 14 weeks gestation or by amniocentesis after 15 weeks of gestation. However, these invasive procedures carry a risk of miscarriage of around 1.0% [2]. |
| Databáze: | OpenAIRE |
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