Triploid Pregnancies Research Articles

Differences in Current Clinical Features of Diploid and Triploid Hydatidiform Mole

Hydatidiform mole (HM) complicates about 1 in 1000 pregnancies in the western world. Nearly all diploid moles have an androgenetic genome and are thought to result from fertilization of an anucleate egg with either 1 sperm, followed by endoreduplication of the haploid genome, or with 2 sperms. Rare diploid moles have a biparental genome. Triploid moles result from dispermy and have 2 paternal sets of chromosomes plus 1 maternal set. This study contrasted the clinical features of diploid and triploid molar pregnancies in 259 women diagnosed in the years 1986-2003 as having a molar pregnancy. Molar ploidy was determined by karyotyping, flow cytometry, and/or analysis of polymorphic DNA markers. The series included 154 women with diploid HM and 105 with triploid HM. For both groups, the median age at diagnosis was 27 years. Diploid HM was more frequent than triploid HM in women aged 40 years and older, and all 6 subjects aged 15 to 18 years had diploid moles. The median gestational age at diagnosis was 12 and 16 weeks, respectively, for women with diploid and triploid HM. Nearly two thirds of diploid HMs but just over one fifth of triploid HMs were diagnosed in the first trimester. Triploid HM was more often the result of assisted reproduction, but this difference was not significant. Multiple logistic regression analysis identified four factors that independently predicted diploid HM. They were an initial human chorionic gonadotropin level of at least 100,000 IU/liter; a first-trimester gestational age; vaginal bleeding; and maternal age of 40 or older. Women with a large uterus more often had a diploid than a triploid mole. Of women having triploid and diploid moles, 54% and 27%, respectively, were diagnosed before symptoms developed. Hyperemesis occurred more often in women with diploid mole, but not significantly so. These findings distinguish clinically between diploid and triploid HM. They suggest that the presenting clinical features of molar pregnancy can serve as an early predictor of molar ploidy, and, therefore, may have prognostic value.

Triploidies in First and Second Trimesters of Pregnancies in Turkey

Triploidies in First and Second Trimesters of Pregnancies in TurkeyTriploidy is the most common chromosomal abnormality in human conceptions that cause fetal loss before 20 weeks of gestation and has an incidence of 1 in 10,000 live births. Placental changes, fetal malformations and intrauterine growth retardation (IUGR) occur in triploid pregnancies. We performed karyotype analyses of 75 spontaneous abortions and 1,114 amniotic fluid cultures by conventional methods between 2002 and 2005 at our cytogenetics laboratory. Triploidy was detected in five spontaneous abortions and four amniotic fluid samples. Abortions were between the 9th and 13th weeks of pregnancy, and cytogenetic analyses revealed a 69, XXY karyotype in four of the aborted fetuses and a 69, XXX karyotype in one. Amniotic fluid cell cultures revealed a 69, XXX karyotype in three cases and 69, XXY in one. Amniocentesis was performed in four patients because of an increased trisomy 18 risk detected in maternal serum screening. In pregnant women undergoing second trimester amniocentesis, increased risk for trisomy 18 may be due to triploidy and should be taken into account during genetic counseling.

Advancing Age Has Differential Effects on DNA Damage, Chromatin Integrity, Gene Mutations, and Aneuploidies in Sperm

Although delaying fatherhood has become somewhat more popular, the heritable sequelae of this practice are not well understood. Advancing paternal age has, however, been implicated in numerous abnormal reproductive and genetic outcomes, including poorer semen quality, reduced fertility, and more frequent spontaneous abortions, as well as some 20 autosomal-dominant diseases such as Apert syndrome and achondroplasia. The investigators examined the effects of advancing male age on multiple genomic defects in sperm (reflected in the DNA fragmentation index [DFI]), chromatin integrity, gene mutations, and numeric chromosomal abnormalities. Participants were 97 men ranging in age from 22 to 80 years who were in good to excellent health and did not smoke. They were predominantly a white and highly educated population. Semen specimens were obtained after an average of 5 days without sexual activity. Age correlated positively with all 5 DFI end points analyzed. Thirty men, nearly one third of those studied, had percent DFI values at or above those previously associated with an increased risk of male infertility. After adjusting for age and abstinence, the frequency of sperm with high DNA stainability did not correlate with DFI end points. Age did correlate with fibroblast growth factor receptor 3 gene (FGFR3) mutations associated with achondroplasia. No associations were noted between age and the frequency of sperm with immature chromatin, aneuploidies or diploidies, or FGFR2 mutations (as in Apert syndrome). There also were no consistent correlations among genomic and semen quality end points except for an association between DFI and sperm motility. Male age did not correlate with the sperm sex ratio. Men who choose to delay fatherhood may be less likely to experience a successful pregnancy. Unlike older women, however, older men do not seem to be at increased risk of trisomic or triploid pregnancies. Semen quality does not reflect the presence of genomic damage to sperm. A small number of older men do appear to be at increased risk of transmitting multiple genetic and chromosomal defects.

Triploidy identified through second‐trimester serum screening

To describe the maternal serum marker patterns of triploid pregnancies and estimate the second-trimester prevalence of triploidy. Forty-two cases of triploidy were identified in six serum screening programmes, five in the United Kingdom, one in Canada. This study describes the serum marker patterns, serum screening results for Down syndrome, trisomy 18 and open neural tube defects, and maternal age of these triploidy cases. The risk cut-off levels were > or = 1 in 250 for Down syndrome, > or =2.5 MoMs alpha-fetoprotein for open neural tube defects and > or =1:100 for trisomy 18 screening. The estimated second-trimester prevalence of triploidy was based on 22 triploidy cases ascertained in 599 934 pregnancies from three routine screening programmes, which attempted complete ascertainment of aneuploidy cases. The observed second-trimester rate of triploidy was 0.37 per 10 000 fetuses. Two different serum marker patterns were seen in triploid pregnancies, distinguished from each other by typically very high or very low levels of total hCG or free beta-hCG. The median maternal ages were respectively 33 years for triploidy with human chorionic gonadotrophin levels < 1.0 MoM, and 26 years for those with hCG levels > or =1.0 MoM. Fifty-seven percent of the pregnancies with a triploid fetus had a risk estimate > or =1:100 for trisomy 18 alone, 10% had an alpha-fetoprotein > or =2.5 MoM, 5% were screen positive for Down syndrome alone, and 19% had an increased risk or positive results for more than one anomaly. The simultaneous use of maternal serum tests designed to screen prenatally for Down syndrome, neural tube defects, and an increased risk of trisomy 18 resulted in a screen-positive result for 90% of pregnancies with triploidy.

First-trimester screening for fetal triploidy at 11 to 14 weeks: a role for fetal biometry

Intrauterine growth restriction in triploidy has been reported as early as in the first trimester. This study was undertaken to evaluate the ability of first-trimester crown rump length (CRL)-based charts to detect triploid fetuses. Analysis of fetal biometry in cases of triploidy diagnosed in the first trimester over the last three years. Biometry for abdominal circumference (AC), head circumference (HC) and biparietal diameter (BPD) was analyzed in relation to both gestational age (GA)-based charts and to CRL-based charts. Five cases of fetal triploidy were diagnosed at 11 to 14 weeks. Screening based on nuchal translucency (NT) and maternal age showed a risk > 1/300 in only one of the 5 cases of triploid fetus. In all of these five cases, CRL-based biometry was grossly abnormal, although it was abnormal in only two of these five cases in relation to GA-based charts. First-trimester CRL-based biometry charts seem to reflect early asymmetrical growth delay in triploidy more accurately than GA-based charts. CRL-based biometry is likely to improve the early detection of triploid pregnancies without leading to dating error.

First-trimester nuchal translucency and maternal serum free beta-hCG and PAPP-A can detect triploidy and determine the parental origin.

To evaluate the levels of first-trimester screening markers in triploid pregnancies and to determine the parental origin of triploidy. During the five-year study period, 12322 patients with singleton pregnancies underwent combined first-trimester screening using nuchal translucency (NT) and maternal serum free beta-human chorionic gonadotrophin (free beta-hCG) and pregnancy associated plasma protein-A (PAPP-A) at 10 to 14 weeks' gestation. Maternal serum markers and NT were evaluated in cases of triploidy. Molecular analysis was performed using polymorphic markers to establish the parental source of triploidy. Eight cases of triploidy were detected at a rate of at least 1 in 1540. All cases were electively terminated early in gestation or resulted in spontaneous miscarriage. Two patterns of first-trimester markers emerged: type I, characterized by extremely high levels of free beta-hCG and elevated NT; and type II, characterized by very low levels of PAPP-A and free beta-hCG with normal NT. Molecular analysis demonstrated that type I triploidy is of paternal origin (diandric) and type II is of maternal origin (digynic). On the basis of these results, it may be possible to detect triploid pregnancies in the first trimester and determine their origin using combined first-trimester screening.

Recurrent triploidy of maternal origin.

Triploidy is the most frequent chromosome aberration in first trimester spontaneous abortions. In contrast to aneuploidies due to nondisjunction, increased maternal age is not a risk factor and the mechanism of triploidy remains poorly understood. To date, recurrence of triploidy of maternal origin has been described only in a few families suggesting some underlying genetic factors. Here, we report on a woman who underwent three consecutive triploid pregnancies, in two of which maternal origin of triploidy was proved by molecular analysis.

Title risk of preeclampsia in second-trimester triploid pregnancies: Rijhsinghani A.; Yankowitz J.; Strauss R.A.; Kuller J.A.; Patil S.; Williamson R.A. USA Obstet Gynecol 1997 90/6 (884–888)

International Journal of Gynecology & ObstetricsVolume 61, Issue 1 p. 97-97 Citations from the literature pregnancy and delivery Title risk of preeclampsia in second-trimester triploid pregnancies Rijhsinghani A.; Yankowitz J.; Strauss R.A.; Kuller J.A.; Patil S.; Williamson R.A. USA Obstet Gynecol 1997 90/6 (884–888) First published: 14 May 2004 https://doi.org/10.1016/S0020-7292(98)90128-XAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinkedInRedditWechat No abstract is available for this article. Volume61, Issue1April 1998Pages 97-97 RelatedInformation

Risk of Preeclampsia in Second-Trimester Triploid Pregnancies

Objective: To determine the magnitude of the risk and the predictive clinical characteristics for development of preeclampsia when triploidy is diagnosed in the second trimester.Methods: A retrospective analysis of databases maintained by the cytogenetics laboratories at the University of Iowa and University of North Carolina was performed to identify all cases of triploidy. We examined the karyotype, maternal serum screening (particularly the hCG level), ultrasound results, and evidence of maternal hypertensive disease.Results: Seventeen cases of triploidy were identified between 1987 and 1996. Preeclampsia or hypertension complicated six of these cases with onset between 15 and 22.5 weeks’ gestation. In these six cases, the serum hCG level was extremely high. Serum screening results were available in seven cases in which preeclampsia did not develop, and the hCG levels were under 0.09 multiples of the median in five of the seven cases. In all six cases in which preeclampsia or hypertension developed, there was sonographic evidence of placentomegaly. Sonographic findings in 16 of 17 cases revealed fetal growth restriction, oligohydramnios, fetal anomalies, placentomegaly, or a combination of these.Conclusion: In our series of pregnancies complicated by triploidy, the risk of developing preeclampsia or hypertension in the second trimester was 35%. It appears that elevated serum hCG levels and placentomegaly are associated with a higher risk of preeclampsia but low hCG levels are not. This information is important in counseling patients who are hesitant to terminate a pregnancy purely for a fetal abnormality, even if the anomaly is lethal.

Early prenatal diagnosis of triploidy

OBJECTIVE: Our purpose was to investigate the role of ultrasonography and maternal serum human chorionic gonadotropin in the early prenatal diagnosis of triploid pregnancies. STUDY DESIGN: A retrospective study on 61,314 consecutive singleton pregnancies examined by ultrasonography at 10 to 14 weeks' gestation was performed to identify the prenatal features of those complicated by triploidy. When available, the serum human chorionic gonadotropin level was measured and ascertained retrospectively. Cases lost to follow-up or for which no karyotype was available were excluded from the final analysis. RESULTS: Overall there were 18 cases of triploidy identified in a population of 58,862 singleton pregnancies, giving a prevalence of 1 in 3270. Fetal defects were observed in 8 (44.4%) of these cases; these included holoprosencephaly ( n = 4), exomphalos ( n = 3), and posterior fossa cyst ( n = 1). In 6 (33.3%) cases the placenta showed molar changes. The fetal crown-rump length was below the 5th percentile in 10 of the 16 (62.5%) cases for which the menstrual age was also available. Fetal nuchal translucency thickness was above the 95th percentile in 12 (66.7%) cases, and the fetal heart rate was below the 5th percentile in 4 of the 13 (30.8%) cases evaluated. The maternal human chorionic gonadotropin level was high in 11 of the 13 (84.6%) cases tested, with similar distribution of the high values in molar and nonmolar triploidies. CONCLUSION: The combination of ultrasonographic examination of the fetoplacental features and measurement of the maternal serum level of human chorionic gonadotropin enables the diagnosis of most cases of triploidy at 10 to 14 weeks' gestation.(Am J Obstet Gynecol 1997;176:550-4.)

Very low maternal serum chorionic gonadotropin levels in association with fetal triploidy

Objective: The objective of this study was to identify the parental origin of the extra haploid set of chromosomes in triploid pregnancies and to correlate the parental origin to very low levels of human chorionic gonadotropin and unconjugated estriol levels (multiple of the median ≤0.20) and normal α-fetoprotein levels. Study Design: Three triploid pregnancies were ascertained retrospectively, and three pregnancies were identified prospectively. Maternal sera samples were analyzed for levels of a-fetoprotein, human chorionic gonadotropin, and unconjugated estriol. Deoxyribonucleic acid analysis was performed on parental bloods and fetal fibroblasts in two prospectively identified pregnancies to establish the parental origin of the extra set of chromosomes. Results: Levels of α-fetoprotein were normal in all pregnancies. Levels of human chorionic gonadotropin were very low in five of six of pregnancies, and unconjugated estriol levels were low in three of six pregnancies. Deoxyribonucleic acid analysis indicated maternal origin of the extra haploid set of chromosomes in two triploids. Conclusion: When the extra haploid set of chromosomes are maternally derived, some triploid pregnancies exhibit very low levels of maternal serum human chorionic gonadotropin and unconjugated estriol with normal levels of α-fetoprotein. Objective: The objective of this study was to identify the parental origin of the extra haploid set of chromosomes in triploid pregnancies and to correlate the parental origin to very low levels of human chorionic gonadotropin and unconjugated estriol levels (multiple of the median ≤0.20) and normal α-fetoprotein levels. Study Design: Three triploid pregnancies were ascertained retrospectively, and three pregnancies were identified prospectively. Maternal sera samples were analyzed for levels of a-fetoprotein, human chorionic gonadotropin, and unconjugated estriol. Deoxyribonucleic acid analysis was performed on parental bloods and fetal fibroblasts in two prospectively identified pregnancies to establish the parental origin of the extra set of chromosomes. Results: Levels of α-fetoprotein were normal in all pregnancies. Levels of human chorionic gonadotropin were very low in five of six of pregnancies, and unconjugated estriol levels were low in three of six pregnancies. Deoxyribonucleic acid analysis indicated maternal origin of the extra haploid set of chromosomes in two triploids. Conclusion: When the extra haploid set of chromosomes are maternally derived, some triploid pregnancies exhibit very low levels of maternal serum human chorionic gonadotropin and unconjugated estriol with normal levels of α-fetoprotein.

Very low maternal serum chorionic gonadotropin levels in association with fetal triploidy

OBJECTIVE: The objective of this study was to identify the parental origin of the extra haploid set of chromosomes in triploid pregnancies and to correlate the parental origin to very low levels of human chorionic gonadotropin and unconjugated estriol levels (multiple of the median ≤0.20) and normal α-fetoprotein levels. STUDY DESIGN: Three triploid pregnancies were ascertained retrospectively, and three pregnancies were identified prospectively. Maternal sera samples were analyzed for levels of α-fetoprotein, human chorionic gonadotropin, and unconjugated estriol. Deoxyribonucleic acid analysis was performed on parental bloods and fetal fibroblasts in two prospectively identified pregnancies to establish the parental origin of the extra set of chromosomes. RESULTS: Levels of α-fetoprotein were normal in all pregnancies. Levels of human chorionic gonadotropin were very low in five of six of pregnancies, and unconjugated estriol levels were low in three of six pregnancies. Deoxyribonucleic acid analysis indicated maternal origin of the extra haploid set of chromosomes in two triploids. CONCLUSION: When the extra haploid set of chromosomes are maternally derived, some triploid pregnancies exhibit very low levels of maternal serum human chorionic gonadotropin and unconjugated estriol with normal levels of α-fetoprotein. (AM J OBSTET GYNECOL 1994;170:77-80.)