The Contribution of Multiple Pregnancies in Stillbirths in Greece: A Time-Trend Analysis.

Introduction Multiple pregnancy is an established risk factor for fetal death. This study aimed to examine the impact of multifetal pregnancies on stillbirth rates (SBRs) in the Greek population. Methods Data on live births and stillbirths by multiplicity were derived from the Hellenic Statistical Authority, covering a 65-year period from 1957 to 2021. The SBR for multiple and single gestations, and the population attributable risk (%) (PAR (%)) stillbirth attributable to multifetal gestations were calculated, and temporal trends were assessed using joinpoint regression analysis, with annual percentage changes (APC) and 95% confidence interval (95% CI). Results In the period 1957-2021, multiple pregnancies accounted for 9.4% of total stillbirths in Greece and the overall relative risk of fetal death among multifetal gestations was 3.34, in comparison with singletons. The SBR in multiple births remained unchanged from 1957 to 1976 and showed downward trends from 1976 to 2021 (APC = -3.0, 95% CI: -3.4 to -2.7, p < 0.001). PAR (%), after two decades of stability, showed an increasing trend over the period 1975-2011 (APC = 3.4, 95% CI: 2.8 to 4.0, p < 0.001), which was reversed in the more recent decade 2011-2021 (APC = -6.1, 95% CI: -9.6 to -2.5, p = 0.001), with PAR (%) decreasing from a historical high of 19.3% in 2012 to 8.6% in 2021. Conclusion The high incidence of multiple births has a considerable impact on stillbirth rates in the Greek population. The recent downward trends of SBR and PAR (%) of multiple gestations are encouraging, however more measures and targeted interventions are needed to improve perinatal outcomes in multifetal gestation.

Platelet Glycoprotein Receptor Ia-C807T and IIIa-PlA1/PlA2 Genetic Polymorphisms Are Associated With Enhanced Platelet Function in Women With Recurrent Miscarriages.

INTRODUCTION: Thrombophilic genetic polymorphisms of the platelet glycoproteins Ia (GpIa) and IIIa (GpIIIa) have been associated with an increased risk of recurrent miscarriages. The aim of this study was to investigate the association of genetic polymorphisms GpIa-C807T and GpIIIa-T1565C-PlA1/PlA2 with platelet function in women with unexplained spontaneous recurrent miscarriages. METHODS: This cross-sectional study comprised 196 unrelated nulliparous Greek women with a history of unexplained recurrent miscarriages. Patients were genotyped for the presence of the GpIa-C807T (rs1126643) and GpIIIa-T1565C-PlA1/PlA2 (rs5918) genetic polymorphisms by pyrosequencing, and the collagen/epinephrine closure time (COL/EPI CT) of the subjects was assessed using the platelet function analyzer (PFA)-100. RESULTS:  In the total population of women with recurrent miscarriages, the COL/EPI CT ranged from 70 to 160 seconds (median: 122 seconds, interquartile range (IQR): 102.3-138 seconds). In comparison with the double homozygotes CC/PlA1PlA1 that had the most prolonged CT (mean: 131.9 ± 17.5 seconds), the COL/EPI CT was statistically significantly shorter for the GpIa-807T single carriers (mean: 120.3 ± 20.9 seconds) (p=0.011) (absolute difference: 11.6 seconds, 95% confidence interval (CI): 21.2 to -2.0 seconds; relative difference: -9%, 95% CI: -16% to -2%), and the GpIIIa-PlA2 single carriers also displayed a trend for shorter COL/EPI CT (mean: 121.3 ± 23.7 seconds) (p=0.141) (absolute difference: -10.6 seconds, relative difference: -8%), whereas the combined carriers of the GpIa-807T and the GpIIIa-PlA2 alleles exhibited the shortest COL/EPI CT (mean: 104.1 ± 19.7 seconds) (absolute difference: -27.7 seconds, 95% CI: -39.1 to -16.3 seconds; relative difference: -21%, 95% CI: -30% to -12%) (p<0.001). In comparing genotype frequencies in the lower half with those in the upper half of the COL/EPI CT range, the GpIa-807T and the GpIIIa-PlA2 single carriers were associated with higher odds of COL/EPI CT < 122 seconds (odds ratio (OR)=3.4, 95% CI: 1.5 to 7.5, p=0.002, and OR=2.6, 95% CI: 1.0 to 7.2, p=0.053, respectively). The association was strongest for the combined carriers with OR of 15.0 (95% CI: 5.2 to 43.2, p<0.001) for COL/EPI CT below the median and OR of 35.5 (95% CI: 4.4 to 284.5, p<0.001) for COL/EPI CT < 100 seconds. CONCLUSION: The GpIa-C807T and GpIIIa-PlA1/PlA2 polymorphisms and more pronouncedly the combined carriers of the risk variants are associated with enhanced platelet reactivity expressed via shorter COL/EPI CT. These findings provide further evidence for the role of platelet-associated genetic thrombophilia in the pathogenesis of recurrent miscarriages and promote the analysis of platelet function as a diagnostic tool in the evaluation of this disorder.

Incidence and Types of Chromosomal Abnormalities in First Trimester Spontaneous Miscarriages: a Greek Single-Center Prospective Study.

Background:Chromosomal abnormalities are the main cause of early miscarriages. Objective: The aim of this cross-sectional cohort study was to investigate the chromosomal abnormalities in first trimester spontaneous miscarriages in a Greek population. Methods:Spontaneous abortion samples from a single genetic center in Greece were analyzed via conventional karyotype analysis and quantitative fluorescent polymerase chain reaction (QF-PCR). All samples were accompanied by maternal blood samples to exclude contamination. Results:The results of the present study showed that 83 out of the 198 available samples (41.9%) had an abnormal karyotype. The majority of embryos suffered from numerical chromosomal abnormalities (90.4%). Autosomal trisomy (54.2%) was the most frequent chromosomal abnormality, while trisomies 16 and 22 (seven cases) were the commonest karyotype anomalies. Nine fetuses (10.8%) suffered numerical abnormalities of sex chromosomes (all cases with 45, X), while 12 of fetuses (14.5%) were diagnosed with triploidy (five males with 69, XXY and seven females with 69, XXX). All miscarriages following IVF and presenting with abnormal karyotype were diagnosed with numerical abnormalities. Finally, a fetus with double trisomy (14 and 21) and a rare case of coexistence of Klinefelter (XXY) and Edwards (trisomy 18) syndromes were observed. Conclusions:Cytogenetic analysis of products of conception is an important step involved in investigating the causes of miscarriages. In this study of spontaneous miscarriages, the incidence and types of chromosome aberrations are presented for the first time in a Greek population.

Prenatal Exposure to Bisphenol A: Is There an Association between Bisphenol A in Second Trimester Amniotic Fluid and Fetal Growth?

Background and Objectives: Fetal growth abnormalities increase the risk of negative perinatal and long-term outcomes. Bisphenol A (BPA) is a ubiquitous endocrine-disrupting chemical to which humans may be exposed in a number of ways, such as from the environment, via various consumer products, and through the individual's diet. Since the compound possesses estrogen-mimicking properties and exerts epigenetic and genotoxic effects, it has been associated with harmful effects impacting the entire spectrum of human life, including, vitally, the intrauterine period. We investigated the role of maternal exposure to BPA in abnormal fetal growth velocity, both impaired and excessive. Materials and Methods: Amniotic fluid samples were collected from 35 women who underwent amniocentesis early in the second trimester due to medical reasons. Pregnancies were followed until delivery, and birth weights were recorded. The amniotic fluid samples were subsequently divided into three groups based on fetal birth weight, as follows: AGA (appropriate for gestational age), SGA (small for gestational age), and LGA (large for gestational age). Amniotic fluid BPA levels were determined by gas chromatography coupled with mass spectrometry. Results: BPA was detected in 80% (28/35) of our amniotic fluid samples. Median concentration was 281.495 pg/mL and ranged from 108.82 pg/mL to 1605.36 pg/mL. No significant association was observed between the study groups regarding BPA concentration. A significant positive correlation between amniotic fluid BPA concentration and birth weight centile (r = 0.351, p-value = 0.039) was identified. BPA levels were also inversely associated with gestational age in pregnancies at term (between 37 and 41 weeks) (r = -0.365, p-value = 0.031). Conclusions: Our findings suggest that maternal exposure to BPA during the early second trimester of pregnancy can potentially contribute to increased birthweight percentiles and to decreased gestational age in pregnancies at term.

Temporal Trends in Stillbirth in Greece: A Longitudinal Population-Based Study.

INTRODUCTION: Stillbirths are a major public health issue and a key population health indicator. The aim of this study was to comprehensively investigate and present time trends in stillbirth in Greece. METHODS: Data on all live births and stillbirths were derived from the Hellenic Statistical Authority, covering a 65-year period from 1957 to 2021 and the annual stillbirth rate (SBR) was calculated, defined as the number of stillbirths per 1,000 live births and stillbirths (total births). Trends in the SBR were assessed using joinpoint regression analysis with calculation of the annual percent change (APC) with a 95% confidence interval (95% CI) and level of statistical significance p<0.05. RESULTS: The SBR in Greece, after an initial increasing trend (1957-1965: APC=2.6, 95% CI: 0.5 to 4.7, p=0.016), and an all-time high of 15.8 per 1,000 births in 1966, recorded a four decades period of continuous improvement (1965-2003: APC=3.0, 95% CI: -3.2 to -2.8, p<0.001) and reached a historic low in 2008 (3.3 per 1,000 births) (a decrease by 79%). However, the SBR stagnated at an elevated level during the decade 2006-2016 and showed a steeply upward trend during the most recent period 2016-2021 (APC=7.4, 95% CI: 3.0 to 12.1, p=0.001). In 2021, the SBR was 5.3 per 1,000 births, 60% up from 2008. It was estimated that the SBR improvement for the 1967-2021 period resulted in 50,914 stillbirths averted (7.9 per 1,000 births), but the recent increase in the SBR has led to 1,200 additional fetal deaths (1.0 per 1,000 births) during 2009-2021. CONCLUSION: After an impressive decline for almost four decades the SBR gradually deteriorated during the economic crisis and finally showed an alarming rising trend after 2015, resulting in an increasing burden of fetal deaths in Greece. Further public health interventions are needed to address preventable risk factors and ensure access to optimized antenatal monitoring.

Human Leukocyte Antigen Alleles Compatibility and Immunophenotypic Profile Associations in Infertile Couples.

INTRODUCTION: The maternal immune system has a major role in the successful embryo implantation and maintenance of the pregnancy. This study aimed to investigate the maternal immunophenotyping profile (percentage of Natural Killer [NK] cells and the CD4/CD8 [cluster designation] ratio in peripheral blood lymphocytes) and the HLA (Human Leukocyte Antigen)-DQA1 alleles sharing in infertile couples. METHODS: This cross-sectional study included 78 women who had experienced at least two spontaneous miscarriages and 110 women with a history of recurrent implantation failures after in vitro fertilization (IVF) or intracytoplasmic sperm injection (ICSI) and embryo transfer (ET) (IVF-ET failures). The NK cell percentage and the CD4/CD8 ratio were determined by flow cytometry. Genotyping of the HLA-DQA1 alleles was carried out for all women and their partners, and couple HLA-DQA1 compatibility was expressed as the percentage of common HLA-DQA1 alleles (totaling 35 alleles) shared between spouses to the sum of the unique alleles observed. RESULTS: In women with recurrent miscarriages, high values (%) of the NK population with a median (interquartile range [IQR]) of 10.3% (7.7% to 12.5%) and CD4/CD8 ratio (1.7) (1.5 to 2.1) were found. In women with IVF-ET failures, the (%) NK population (10.5%) (8.6% to 12.5%) and CD4/CD8 ratio (1.8) (1.5 to 2.1) were similarly increased (p=0.390, and p=0.490, respectively). The proportion of women with >10% NK cells was 53.8% and 58.2% in women with miscarriages and IVF-ET failures, respectively (p=0.554). The prevalence of HLA-DQA1*5 allele carriage was elevated in women with miscarriages as well as those with IVF-ET failures (52.6% and 61.8%, respectively; p=0.206). The proportion of couples with high (>50%) HLA-DQA1 sharing was 65.4% in the group with miscarriages and 73.6% in the group with IVF-ET failures, respectively (p=0.222). The CD4/CD8 ratio was statistically significantly positively correlated with the (%) NK population in women with IVF-ET failures (rho = 0.297, p=0.002) and with the (%) HLA-DQA1 sharing in the group with miscarriages (rho = 0.266, p=0.019). The couples in which both spouses were carriers of the HLA-DQA1*5 allele had an increased probability of high (>50%) HLA-DQA1 compatibility compared with the couples in which neither of the spouses carried the allele in the miscarriage group (OR = 24.3, 95% CI: 3.0 to 198.9, p<0.001), and the IVF-ET failure group (OR = 10.5, 95% CI: 2.2 to 49.8, p<0.001). CONCLUSION: The peripheral NK (%) population and CD4/CD8 ratio, as well as the prevalence of the HLA-DQA1*5 allele, were elevated in women with recurrent miscarriages and IVF-ET failures. Furthermore, these couples with negative reproductive outcomes had a high percentage of HLA-DQA1 allele similarity. The presence of the HLA-DQA1*5 allele in spouses was strongly associated with overall couple HLA-DQA1 compatibility, implying that it could be used as a surrogate marker for assessing overall immunological compatibility in infertile couples.

Temporal Trends in Multiple Births in Greece: The Evolution of an Epidemic.

Introduction Multiple births constitute the dominant adverse effect of fertility treatments and are associated with increased perinatal risks. The aim of this study was to comprehensively examine and present time trends in multiple births in Greece. Methods Data on live births by multiplicity were derived from the Hellenic Statistical Authority, covering a 65-year period from 1957 to 2021. Temporal trends in multiple birth rates (MBR), twin birth rates (TwBR), as well as in triplet and higher-order birth rates (Tr+BR) were assessed using joinpoint regression analysis, and the annual percentage changes (APC) were calculated with a 95% confidence interval (95% CI) and level of statistical significance (p < 0.05). Results The MBR in Greece showed a downward trend from 1957 to 1979 (APC = -1.7, 95% CI: -2.0 to -1.4, p < 0.001). However, the rate started to climb in the 1980s, accelerated during the 1990s, and continued to rise in the two most recent decades, reaching a historic high and a world record of 57.2 per 1,000 births in 2021, i.e., a 3.4-fold increase since 1985. The TwBR increased from an all-time low of 16.5 per 1,000 births in 1978 with APC = 1.4 (95% CI: 0.2 to 2.5, p = 0.021) during 1979-1989, APC = 6.3 (95% CI: 5.5 to 7.2, p < 0.001) during 1989-2001, and APC = 1.2 (95% CI: 0.8 to 1.5, p < 0.001) during the last two decades (2001-2021). The Tr+BR, after an all-time low of 17.5 per 100,000 births in 1966, increased dramatically from 1982 to 2000 (APC = 12.4, 95% CI: 9.6 to 15.2, p < 0.001), leveled off during 2000-2011, and after reaching a historic maximum of 351.1 per 100,000 births in 2010, there was a sharp decreasing trend during the last decade (2011-2021: APC = -12.1, 95% CI: -16.8 to -7.2, p < 0.001). Conclusion The dramatic increases in maternal age as well as in medically assisted conceptions have resulted in an epidemic increase in MBR in Greece reaching world record levels. During the last decade, there was an encouraging decline in the Tr+BR; however, the TwBR has continued to trend upwards.

Tracing Time Trends of Births in Greece.

Introduction The aim of this study was to comprehensively investigate and present time trends in births in Greece over the last seven decades. Methods Data on live births were derived from the Hellenic Statistical Authority, covering a 72-year period from 1950 to 2021. Trends in the number of births were assessed using joinpoint regression analysis. The annual percentage change (APC) and the average annual percent change (AAPC) were calculated with a 95% confidence interval (95% CI) and level of statistical significance p<0.05. Results The overall trend during 1950-2021 was clearly downward (AAPC = -0.9, 95% CI: -1.2 to -0.7). Over the first three decades, births fluctuated to a record high of 162,839 in 1967, with an overall slight downward trend (1950-1981: APC = -0.2, 95% CI: -0.4 to -0.1, p<0.001). During the 1980 decade, the trend was sharply downward (1981-1988: APC = -4.7, 95% CI: -6.2 to -3.2, p<0.001), followed by a stabilization in the 1990s (1988-2001: APC = -0.1, 95% CI: -0.7 to 0.4, p=0.586). The first decade of the 21st century was the only period during the last seven decades with an increasing trend in births in the Greek population (2001-2008: APC = 1.9, 95% CI: 0.3 to 3.5, p = 0.021), but it was followed by plummeting trends during the recent years (2008-2021: APC = -2.7, 95% CI: -3.2 to -2.3, p<0.001), leading to the historic low of 83,756 births in 2019. Conclusion The time trend analysis of births in Greece indicated a dramatic plummet in natality in Greece, predominantly attributed to the large decline in births in the 1980s, which could not be reversed in the 1990s and 2000s. The recent decrease in births was associated with the financial recession and has put the Greek population in a disastrous low-fertility spiral.

Determinants of Mortality in a Neonatal Intensive Care Unit in Athens, Greece: A Case-Control Study.

INTRODUCTION: The aim of this study was to investigate associations between death and sociodemographic and clinical determinants in a neonatal ICU (NICU) in Athens, Greece, by means of a case-control study. METHODS: The study was conducted between January 2013 and October 2017 at the NICU of "Panayiotis & Aglaia Kyriakou" Children's Hospital in Athens, Greece. The NICU subjects that died (case group) during this period (n=49) were compared with a control group of 451 NICU-admitted subjects who survived, during the same period. Potential determinants of mortality were assessed; univariate and multivariate logistic regression analysis was performed; odds ratios (OR) and 95% confidence intervals (95% CIs) were estimated. RESULTS: Gestational age less than 32 weeks (adjusted OR=4.59, 95%CI: 2.09-10.10), low birth weight (adjusted OR=3.14, 95%CI: 1.43-6.91), emergency transfer (adjusted OR=11.92, 95%CI: 1.57-90.60), cyanosis (adjusted OR=5.20, 95%CI: 2.25-12.01), perinatal asphyxia (adjusted OR=6.96, 95%CI: 3.07-15.75), necrotizing enterocolitis (adjusted OR=3.21, 95%CI: 1.03-9.99), need for oxygen supply, and incubator use emerged as independent predictors of mortality. CONCLUSION: Extreme prematurity, low birth weight, necrotizing enterocolitis, and emergency conditions are associated with mortality, despite progress made in the field of neonatal intensive care.

Association of the PECAM-1 (Leu125Val) and P-Selectin (Thr715Pro) Gene Polymorphisms With Unexplained Spontaneous Miscarriages.

INTRODUCTION: The aim of this study was to investigate the possible effect of the PECAM-1-C373G (Leu125Val) and P-Selectin-A37674C (Thr715Pro) polymorphisms in unexplained spontaneous abortions. METHODS: In a case-control design, Greek nulligravida women with recurrent idiopathic miscarriages <20 weeks of gestation and fertile controls were genotyped by pyrosequencing. RESULTS: There was no significant association of the PECAM-1-C373G (Leu125Val) polymorphism with recurrent abortions. Although the P-Selectin-A37674C (Thr715Pro) polymorphism was not associated with miscarriages overall, the association was statistically significant for younger women (carriers of the P-Selectin-37674C allele: <35 years: odds ratio (OR) = 3, 95% confidence interval (CI): 1.13-7.97, p = 0.023; <30 years: OR = 6.75, 95%CI: 2.02-22.58, p = 0.002). In comparison with CC/AA genotype, the combined carriers of the PECAM-1-373G and P-Selectin-37674C alleles had OR =8.81 (95%CI: 1.07-72.50, p = 0.024). The association of the coexistence of the two polymorphisms was stronger in younger women (<35 years: OR = 12.07, 95%CI: 1.38-105.68, p = 0.014; <30 years: OR = 65, 95%CI: 3.38-1251.28, p = 0.001), and late (OR = 10.64, 95%CI: 1.16-97.60, p = 0.024) and second-trimester miscarriages (OR = 26, 95%CI: 1.84-367.71, p = 0.014). The association between carriage of the P-Selectin-37674C allele and recurrent miscarriages was significant for younger women. CONCLUSION: The coexistence of the PECAM-1-373G and P-Selectin-37674C alleles increased the miscarriage risk for the total population studied, suggesting an interaction between the two polymorphisms, more pronouncedly in younger women and the association was stronger for late fetal loss.

Treatment for Infertility in Laron Syndrome: A Case Report.

Laron syndrome is a rare, genetic, growth hormone insensitivity disorder caused by mutations in the growth hormone receptor gene. Affected patients have severe postnatal growth failure, characteristic facial features, and metabolic abnormalities, including severe obesity and metabolic syndrome. Women with Laron syndrome are usually subfertile, mainly due to obesity and metabolic dysregulation, and require treatment for their chronic reproductive dysfunction. To date, infertility in Laron syndrome patients is a rarely addressed problem and, as a result, adequate data regarding its treatment are lacking. Here we present, for the first time in the literature, a rare case of successful treatment of a young woman with Laron syndrome who suffered from infertility due to hyperprolactinemia.

Altered Resistin Concentrations in Mid-trimester Amniotic Fluid of Fetuses With Trisomies 18 and 13: A Window onto the Pathophysiology of Trisomies 18 and 13.

BACKGROUND/AIM: The study aimed to examine whether resistin is present in second trimester amniotic fluid from pregnancies with trisomy 18 and 13 and evaluate its concentration in comparison with euploid pregnancies. PATIENTS AND METHODS: The study included 37 women who underwent amniocentesis. Eleven fetuses had trisomy 18, 3 had trisomy 13, while 23 had a normal karyotype. RESULTS: Resistin was detected in all cases. The mean level of resistin in trisomy 18 was statistically significantly lower compared to euploid controls. Resistin levels in all abnormal cases were below its median concentration in euploid controls. ROC analysis showed very good prognostic value for both trisomies. CONCLUSION: Resistin is a constituent of mid-trimester amniotic fluid of pregnancies with trisomies 13 and 18, exhibiting lower levels than those in euploid fetuses. The reduced levels of resistin in amniotic fluid may be associated with early changes in metabolic pathways and immunoinflammatory responses.

Associations of combined polymorphisms of the platelet membrane glycoproteins Ia and IIIa and the platelet-endothelial cell adhesion molecule-1 and P-Selectin genes with IVF implantation failures.

The aim of the study was to investigate the combined impact of the genetic heterogeneity of the glycoproteins Ia (GpIa) and IIIa (GpIIIa) and the platelet-endothelial cell adhesion molecule-1 (PECAM-1) and P-Selectin genes on IVF embryo transfer implantation failures (IVF-ET failures). Sixty nulligravida women with previous IVF-ET failures and 60 fertile controls were genotyped for the GpIa-C807T, GpIIIa-PlA1/PA2, PECAM-1-C373G (Leu125Val) and P-Selectin-A37674C (Thr715Pro) polymorphisms by pyrosequencing. Compared with wild-type combined homozygotes, carriers of combinations of risk alleles in two gene loci were at significantly increased risk for IVF-ET failure, whereas carriers of the combination of GpIa-807T, GpIIIa-PlA2 and PECAM-1-373G alleles had OR = 52.50 (95%CI: 4.05-680.95, p < .001). The area under the receiver-operating characteristic curve (AUC) based on the number of polymorphisms and the number of risk alleles per subject was 75.4% (95%CI: 66.7%-82.8%, p < .001) and 72.5% (95%CI: 63.6%-80.3%, p < .001), respectively. The OR per polymorphism and risk allele increase was 4.26 (95%CI: 2.15-8.41, p < .001) and 2.85 (95%CI: 1.71-4.76, p < .001), respectively. The above associations were more robust among younger women. The combined analysis of these polymorphisms revealed strong association of combined carriers with IVF-ET failures especially for younger women and provided a genetic risk score with good diagnostic accuracy in the prediction of IVF-ET failures.

Genetic heterogeneity of platelet glycoproteins Ia and IIIa and the risk of spontaneous miscarriages.

OBJECTIVE: The aim of this study was to investigate the association between the genetic heterogeneity of platelet glycoproteins Ia (GpIa-C807T) and IIIa (GpIIIa-PlA1/PlA2) and spontaneous abortions. STUDY DESIGN: Two hundred and twenty two women with a history of unexplained spontaneous miscarriages and no successful pregnancy, and 60 fertile women serving as controls were genotyped for the GpIa-C807T and GpIIIa-PlA1/PlA2 polymorphisms by pyrosequencing. RESULTS: In comparison with the common alleles homozygotes, GpIa-807T and GpIIIa-PlA2 carriers had an increased risk of fetal loss (OR = 3.36, 95%CI: 1.85-6.11, p < 0.001, and OR = 2.58, 95%CI: 1.30-5.13, p = 0.006, respectively). For subjects who were combined carriers of the GpIa-807T and GpIIIa-PlA2 alleles, the risk increased further (OR = 9.13, 95%CI: 2.99-27.82, p < 0.001). The above ORs were highest for women who were younger than 30 years of age. CONCLUSIONS: The GpIa-C807T and GpIIIa-PlA1/PlA2 polymorphisms and more pronouncedly their combination are associated with increased risk of spontaneous abortions. The correlations were stronger for younger patients. Our results indicate that GpIa-807T and GpIIIa-PlA2 are susceptibility alleles for fetal loss in the Greek population.

7q Deletion/12q Duplication Is the Possible Cause of an Alobar Holoprosencephaly Case.

Holoprosencephaly (HPE) spectrum disorder is the most common congenital malformation of the human brain with absence of or incomplete midline cleavage. Its cause is heterogenic, making genetic counseling a challenge. In this case report, a pregnancy affected by alobar HPE is described. Using aCGH, an 8.9-Mb deletion at 7q36.1q36.3 together with a 4.9-Mb duplication at 12q24.32q24.33 is assumed to be the possible reason for this alobar HPE case. It is discussed that disruption of key elements of the developing brain, taking environmental factors into account, contributes to the HPE spectrum. The use of aCGH for invasive prenatal testing is starting to become the standard technique, providing accurate information about the cause of congenital diseases for couples receiving genetic counseling.