Background: This report is about a pregnancy with a triploid fetus and underscores the potential of first trimester combined screening to detect this devastating chromosomal aberration earlier in pregnancy. This report is about a pregnancy with a triploid fetus identified from the first trimester combined screening and confirmed by amniocentesis. Methods: A 28 year old, G5P2AB2 woman was referred to our clinic at 15 weeks of gestation due to a remarkable decrease of her first trimester double biochemical markers and therefore in the high-risk range for trisomy 13 and 18. The woman underwent amniocentesis which revealed a karyotype of 69, XXX. The parents opted for termination and in post mortem physical examination, a hydrocephalus fetus with marked Intra-Uterine Growth Retardation (IUGR) in addition to syndactyly of third and fourth digits, low set malformed ears, micrognathia and club foot, was seen. Results: Our results and previous reports highlight the need to consider a somewhat consistent pattern of the first trimester combined screening in a pregnancy with Triploidy and underscore the potential of this screening strategy to detect this chromosomal aberration earlier in pregnancy. Conclusion: Early prenatal diagnosis of this syndrome would provide women an opportunity to terminate an affected pregnancy earlier. This is also important in preventing the risks of associated later induced abortion or obstetric complications.

Triploidy is the most frequent chromosome abnormality in the gestational age. According to the study, survival of more than 2 months in triploid patients is very rare. A 7-year-old girl with mild mental retardation with dysmorphism was referred for genetic counseling and clinical evaluation to Sarem medical genetics department (Tehran, Iran, 2013). Clinical features of the child were mental retardation, prominent upper lip, microgenitalia, prominent forehead, foot fingers syndactyly, and short hypoplastic 5th finger. G banding technique, skin biopsy, and Fluorescence in situ hybridization (FISH) testing were performed. Brain Imaging was evaluated. The karyotype of patient showed triploid (69, XXX) chromosome complement in all the metaphase spreads. However, two cell lines were found in metaphase of cultured cutaneous biopsy. The majority of the cells the body were triploid (69, XXX) and 16% of cells were diploid (46, XX). Findings of the FISH testing using X and Y Satellite enumeration probes in all studied peripheral blood lymphocyte (PBL) cells, included 3 signals and none signal respectively indicating X and Y chromosomes. Also, cultured of cutaneous biopsy finding showed 66% of cells had three signals (triploid) and 34 percent of cells had two signals (diploid) and mosaicism was confirmed. Karyotypes of parents and the brain imaging were normal. This study presents a rare case of Triploidy with long survival with normal karyotypes of PBL and mosaicism in skin biopsy and interphase FISH.

Induction of Triploidy is one of the biotechnological methods in aquaculture used for genetic manipulation. It refers to a state where organisms have three complete sets of chromosomes instead of two and can result in sterility. Caffeine treatment that is safe and inexpensive, serve to induce Triploidy in catfish. To suppress the second meiotic division, fertilized eggs were exposed to three different concentrations (5, 10 and 15 mM) of caffeine solution for 20 min beginning at 3 min after fertilization. After that, the eggs were incubated at ambient temperature until hatching. The induction of Triploidy in fry was determined for three concentrations of caffeine by means of flow-cytometric analysis. The lowest rate of Triploidy (20.40 ± 1.13%) was obtained in the group treated with 5 mM caffeine and the highest (69.10 ± 2.18%) in the group treated with 15 mM caffeine. Our results suggest that caffeine can be used to induce Triploidy in catfish.

Triploidy is a lethal chromosomal abnormality. Fetuses with triploid condition have a tendency to die in early conception and very few survive to term. In this study, we report the prenatal diagnosis of fetal Triploidy with unexpected chromosomal translocation. A 27 years old women was referred to our clinical cytogenetic department due to history of previous conceptus with intrauterine growth retardation at 21-22 weeks of gestation and in present pregnancy, the quadruple marker screen test had suggested a high risk for Trisomy 18 with the risk >1: 50. The study was performed on the amniotic fluid and peripheral blood samples received at the clinical cytogenetics department. The interphase FISH and conventional karyotype methods were followed. The prenatal diagnosis using an amniotic fluid sample found a triploid fetus with unexpected balanced chromosomal translocation: 69, XXX, t(2, 9)(q11. 2, p22)x2. Later the origin of translocation was confirmed by parental chromosomal study. Cytogenetic analysis showed the presence of translocation involving chromosome 2 and 9 in the mother which confirms the maternal origin of translocation in fetal Triploidy. Prenatal diagnosis of fetal Triploidy with balanced translocation of maternal origin is a rare finding. In present study, the Triploidy arises from the failure to expel the second polar body. It is important to perform prenatal fetal imaging with ultrasound at 18-22 weeks to identify any fetal anomalies or intrauterine growth retardation which is associated with Triploidy.

Induction of Triploidy is one of the biotechnological methods in aquaculture used for genetic manipulation. The aim of this study was to evaluate the effect of Triploidy on growth factors and body deformities of koi fish (Cyprinus carpio). In this experiment, induction of Triploidy was performed by heat shock. For thermal shock three shock variables (38, 40 and 42oC), initiation time of shock (1, 2, 4, 6 and 8 min after fertilization) and shock duration (1, 2 and 3 min) were examined. The method of red cell nucleus measurement was used to identify the triploid fish. In order to evaluate the effect of triploid on growth factors, the initial and final weight and length of fish were measured. Growth factors, including weight gain, specific growth rate, condition factor and feed conversion ratio were then evaluated. Also, at the end of the experiment, the number of fish with body deformities was studied. The results showed no significant difference in FCR and SGR between diploid and triploid fishes. In addition, there were no significant difference in WG and CF between two groups (P>0.05). According to the results of the experiment, there were no significant difference in relation to body shape deformities between the diploid and triploid fish (P>0.05).

Effect of Triploidy induction on some hematological indices of premature all-female diploid and triploid rainbow trout, Oncorhynchus mykiss, was investigated in winter season. All female diploids were obtained by insemination of spermatozoa from sex reversed females (Neomale) with oocyte of normal females. All-female triploids were also produced similarly and by using heat shock of 26.5oC for 20 minutes to eggs 20 minutes post fertilization. Blood samples were taken from fish caudal vein using 5% EDTA as anticoagulant. Hematological data indicated that in all female triploid, mean number of total erythrocytes, hematocrite value and hemoglobin content were significantly lower (p<0.01) than all female diploids while mean corpuscular volume, mean corpuscular hemoglobin and mean corpuscular hemoglobin concentration were significantly higher (p<0.05) than all-female diploids. Furthermore, the mean number of total leukocytes was significantly lower in triploids (p<0.01), but there was no significant difference in differential counts between lymphocyte and neutrophile percentage in diploids and triploids (p>0.05). Although erythrocyte hematological indices were lower in triploids, but increased mean corpuscular volume and consequently higher mean hemoglobin concentrations have set the equivalency between hematological indices in all-female triploids.

Effect of Triploidy induction on some hematological indices changes in all-female diploid and triploid rainbow trout, Oncorhynchus mykiss, at 20 months of age and prior to maturation was investigated in Shahid Bahonar Hatchery Center of Salmonids in Kelardasht-Iran in winter 2005 (mean temperature of 1.5oC). All female diploids were obtained by insemination of spermatozoa from sex reversed females (Neomale) with oocyte of normal females. All-female triploids were also produced similarly and by using heat shock of 26.5oC for 20 minutes to eggs 20 minutes post fertilization. Blood samples were taken from fish caudal vein using 5% EDTA as anticoagulant. Hematological data indicated that mean number of total erythrocytes, hematocrite value and hemoglobin content were significantly lower (p<0.01) and mean corpuscular volume, mean corpuscular hemoglobin and mean corpuscular hemoglobin concentration were significantly higher (p<0.05) in all female triploids. Furthermore, the results showed that mean number of total leukocytes was significantly lower in triploids than in diploids (p<0.01), but there was no significant difference in differential counts between Lymphocyte and Neutrophile percentage in diploids and triploids (p>0.05). Also, biometric results of 32 diploids and 28 triploids showed that mean weight of all-female diploids (348.90gr) was significantly (p<0.01) higher than that of all-female triploids (307.77gr), but there was no significant difference in total length fork length, standard length and body depth indices between these two groups (p>0.05). Final results revealed that although erythrocyte hematological indices were lower in triploids, but increased mean corpuscular volume and consequently higher mean hemoglobin concentration have set the equivalency between hematological indices in all-female triploids.

This study was carried out in order to assess the effect of thermal shock on induction of Triploidy in Koi carp (Cyprinus carpio koi). Three shock temperatures (38, 40 and 42 ° C), five time of initiation of shock (1, 2, 4, 6 and 8 min after fertilization) and three shock durations (1, 2 and 3 min) were tested. A sample of eggs was collected as a control group. There were 46 experimental groups, including 45 treatments and 1 control. The results showed that the highest hatching rate (59. 49 %) was obtained in treatments 19 (4 min after fertilization for 1 min at 38 ° C), 10 (2 min after fertilization for 1 min at 38 ° C) and 28 (6 min after fertilization for 1 min at 38 ° C), while there were no significant differences between these treatments and the control (p > 0. 05). Also, there was a significant decrease of larvaesurvival rate with increased shock temperature and shock duration (P < 0. 05). The best Triploidy rate (65. 95 %) and triploid yield (63. 75 %) were obtained in treatment of 40 º C for 2 min at 6 min after fertilization (treatment 32). Ratio of erythrocytes and nuclei volume in triploids to diploids was 2. 74 and 1. 92, respectively. According to the results, it seems that the use of heat shock of 40 º C, 6 min after fertilization for 2 min can be most effective treatment for induction of Triploidy in Koi carp.