<abstract xmlns="http://www.w3.org/1999/xhtml"><p> Triploidy is a numerical chromosomal anomaly characterized by the presence of three sets of haploid chromosomes. The incidence is hard to evaluate, because usually it causes 1st trimester miscarriage. At 20 weeks of amenorrhea the incidence of triploidy is estimated at 1/250,000 cases. We present 4 cases of triploidy diagnosed during the decade 2003-2013 in the Prenatal Diagnosis Department of Maternity “Cuza-Vodă” Iasi, Romania, all registered in one year. The analysis of pathological cases identified in the last 11 years by prenatal diagnosis has shown that triploidies represented only 5.7% of numeric chromosomal anomalies, but in 2013 the four cases of triploidy represented 36% of numeric chromosomal anomalies. The karyotypes were recommended after discovering different congenital anomalies by ultrasound scan. In all cases, an intrauterine growth retardation (IUGR) was present but with no placental changes. Also, we discovered anomalies of limbs, congenital anomalies of heart and some dysmorphic features. This series demonstrates that triploidy may be discovered in the 2nd trimester of pregnancy and has a heterogeneous aspect at ultrasound scan, which can generate diagnostic difficulties. Therefore, the detection by ultrasound scan, at 18-22 weeks of pregnancy, of complex foetal morphological abnormalities should be an important reason for amniocentesis to search chromosomal anomalies</p></abstract>

Triploidy is a numerical chromosomal anomaly characterized by the presence of three sets of haploid chromosomes. The incidence is hard to evaluate, because usually it causes 1st trimester miscarriage. At 20 weeks of amenorrhea the incidence of triploidy is estimated at 1/250,000 cases. We present 4 cases of triploidy diagnosed during the decade 2003-2013 in the Prenatal Diagnosis Department of Maternity “Cuza-Vodă” Iasi, Romania, all registered in one year. The analysis of pathological cases identified in the last 11 years by prenatal diagnosis has shown that triploidies represented only 5.7% of numeric chromosomal anomalies, but in 2013 the four cases of triploidy represented 36% of numeric chromosomal anomalies. The karyotypes were recommended after discovering different congenital anomalies by ultrasound scan. In all cases, an intrauterine growth retardation (IUGR) was present but with no placental changes. Also, we discovered anomalies of limbs, congenital anomalies of heart and some dysmorphic features. This series demonstrates that triploidy may be discovered in the 2nd trimester of pregnancy and has a heterogeneous aspect at ultrasound scan, which can generate diagnostic difficulties. Therefore, the detection by ultrasound scan, at 18-22 weeks of pregnancy, of complex foetal morphological abnormalities should be an important reason for amniocentesis to search chromosomal anomalies

Prenatal diagnosis of triploidy in second trimester of pregnancy: a series of 4 cases over an eleven-year period / Diagnosticul prenatal al triploidiei în trimestrul al II-lea de sarcină: o serie de patru cazuri depistate în unsprezece ani

Department of Obstetrics and Gynecology, University of Medicine and Pharmacy „Grigore T. Popa” Iasi- Romania

Department of Medical Genetics, University of Medicine and Pharmacy „Grigore T. Popa” Iasi, Romania

Department of Prenatal Diagnosis, „Cuza-Vodă” Maternity, Iaşi, Romania

Eusebiu Vlad Gorduza, University of Medicine and Pharmacy “Grigore T. Popa” Iaşi, 16 Universităţii Str., 700115, Iaşi, Romania

Department of Pathology, University of Medicine and Pharmacy „Grigore T. Popa”, Iasi, Romania

Revista Romana de Medicina de Laborator

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Triploidy is a numerical chromosomal anomaly characterized by the presence of three sets of haploid chromosomes. The incidence is hard to evaluate, because...

Prenatal diagnosis of triploidy in second trimester of pregnancy: a series of 4 cases over an eleven-year period / Diagnosticul prenatal al triploidiei în trimestrul al II-lea de sarcină: o serie de patru cazuri depistate în unsprezece ani

Pubblicato online: 23 giu 2015

Pagine: 213 - 220

Ricevuto: 12 nov 2014

Accettato: 13 apr 2015

DOI: https://doi.org/10.1515/rrlm-2015-0014

Parole chiave
triploidy, chromosomal analysis, prenatal diagnosis, foetal ultrasound scan, congenital anomalies

© by Eusebiu Vlad Gorduza

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Prenatal diagnosis of triploidy in second trimester of pregnancy: a series of 4 cases over an eleven-year period / Diagnosticul prenatal al triploidiei în trimestrul al II-lea de sarcină: o serie de patru cazuri depistate în unsprezece ani

Pubblicato online: 23 giu 2015

Pagine: 213 - 220

Ricevuto: 12 nov 2014

Accettato: 13 apr 2015

DOI: https://doi.org/10.1515/rrlm-2015-0014

Parole chiavetriploidy, chromosomal analysis, prenatal diagnosis, foetal ultrasound scan, congenital anomalies

© by Eusebiu Vlad Gorduza

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Parole chiave
triploidy, chromosomal analysis, prenatal diagnosis, foetal ultrasound scan, congenital anomalies