Home|Journals Follow on Twitter| Subscribe to List

Directory for Medical Articles

Open Access


Med Arh. 2017; 71(2): 144-147

Genetic Counseling and Prenatal Diagnosis of Triploidy During the Second Trimester of Pregnancy

Milenko Kolarski; Begzudin Ahmetovic; Maja Beres; Radomir Topic; Vedran Nikic; Ivana Kavecan; Semin Sabic.

Introduction: Triploidy is a lethal chromosomal numeric abnormality, characterized on extra haploid set of chromosomes. It occurs in 2 to 3% of conceptuses and accounts for approximately 20% of chromosomally abnormal first-trimester miscarriages. As such, triploidy is estimated to occur in 1 of 3,500 pregnancies at 12 weeks’, 1 in 30,000 at 16 weeks’, and 1 in 250,000 at 20 weeks’ gestation. Case report: We present a case of second-trimester triploidy diagnosed prenataly at our center. 28-years-old gravida with a first spontaneous pregnancy had early gestational hypertension. Ultrasound examination in 146/7 weeks’ gestation revealed asymmetric intrauterine growth retardation. We recommended biochemical maternal serum screening during second trimester of pregnancy (AFP, HCG, uE3). Result of biochemical screening was indication for cytogenetic analysis from amniotic fluid cells and we recommended early amniocentesis in 156/7 weeks’ gestation. Result showed abnormal karyotype of the fetus (69,XXX triploidy), and DNA analysis confirmed Type-2 Diginy. Parents decided to terminate this pregnancy, and it was done at 22 weeks’ gestation. Conclusion: We emphasize the importance of non-invasive prenatal exminationes-biochemical serum screening during second trimester of pregnancy, and ultrasound examinations in prenatal screening of syndroma Down and other chromosomal abnormalities.

Key words: Prenatal diagnostics;biochemical screening;early amniocentesis;triploidy;69;XXX

Share this Article

American Journal of Preventive Medicine and Public Health


ScopeMed Home
Follow ScopeMed on Twitter
Article Tools
eJPort Journal Hosting
About ScopeMed
Terms & Conditions
Privacy Policy
Suggest a Journal
Publisher Login
Contact Us

The articles in Scopemed are open access articles licensed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted, non-commercial use, distribution and reproduction in any medium, provided the work is properly cited.
ScopeMed is a Database Service for Scientific Publications. Copyright ScopeMed Information Services.
Scopemed Buttons