Transcriptome Analysis of Beta-Catenin-Related Genes in CD34+ Haematopoietic Stem and Progenitor Cells from Patients with AML.

Background: Acute myeloid leukaemia (AML) is a disease of the haematopoietic stem cells(HSCs) that is characterised by the uncontrolled proliferation and impaired differentiation of normal haematopoietic stem/progenitor cells. Several pathways that control the proliferation and differentiation of HSCs are impaired in AML. Activation of the Wnt/beta-catenin signalling pathway has been shown in AML and beta-catenin, which is thought to be the key element of this pathway, has been frequently highlighted. The present study was designed to determine beta-catenin expression levels and beta-catenin-related genes in AML. Methods: In this study, beta-catenin gene expression levels were determined in 19 AML patients and 3 controls by qRT-PCR. Transcriptome analysis was performed on AML grouped according to beta-catenin expression levels. Differentially expressed genes(DEGs) were investigated in detail using the Database for Annotation Visualisation and Integrated Discovery(DAVID), Gene Ontology(GO), Kyoto Encyclopedia of Genes and Genomes(KEGG), STRING online tools. Results: The transcriptome profiles of our AML samples showed different molecular signature profiles according to their beta-catenin levels(high-low). A total of 20 genes have been identified as hub genes. Among these, TTK, HJURP, KIF14, BTF3, RPL17 and RSL1D1 were found to be associated with beta-catenin and poor survival in AML. Furthermore, for the first time in our study, the ELOV6 gene, which is the most highly up-regulated gene in human AML samples, was correlated with a poor prognosis via high beta-catenin levels. Conclusion: It is suggested that the identification of beta-catenin-related gene profiles in AML may help to select new therapeutic targets for the treatment of AML.

Relationship of Cholelithiasis and Urolithiasis with Methylenetetrahydrofolate Reductase Polymorphisms.

AIM: To investigate the relationship of cholelithiasis and urolithiasis with Methylenetetrehydrofolate Reductase (MTHFR) polymorphism(s) in patients with poor obstetric history to search whether they are risk factors for adverse pregnancy outcome. MATERIALS AND METHOD: This study is consisted of 94 patients with poor obstetric history. Patients were evaluated in terms of the presence of cholelithiasis and urolithiasis in association with MTHFR polymorphism(s). Additional laboratory tests including homocysteine measurements were also performed. ROC analysis for assessing the performance of blood homocysteine level in predicting the presence of cholelithiasis and urolithiasis were also performed. RESULTS: Patients were divided into three groups such as cholelithiasis group (n = 9, 9.6%), urolithiasis group (n = 18, 19.1%) and control group (n = 67, 71.3%). Groups did not differ in term of age and Beksac obstetrics index (BOI) which is "[living child+(π/10)]/gravidity." The rate of the presence of MTHFR polymorphisms were 88.9% (8/9), 88.9% (16/18) and 43.3% (29/67) in cholelithiasis, urolithiasis and control groups respectively. Median homocysteine levels were found to be 13.1, 11.6 and 7.2 micromol/lt for the groups respectively. Statistically significant differences were found for MTHFR polymorphism rates and homocysteine levels (<0.001 for both). According to ROC analysis, 10.9 mcmol/L (88.9% sensitivity, 89.6% specificity) and 9.25 mcmol/L (83.3% sensitivity, 73.1% specificity) were determined to be cutoff values of homocysteine for cholelithiasis and urolithiasis respectively. CONCLUSION: More frequent MTHFR polymorphisms are observed in women with a clinical history of gall or renal stones. Thus, screening of these patients may be benefical for the approprate management of their subsequent pregnancies.

Effect of anti-epileptic drugs on first trimester screening test results.

OBJECTIVE: To evaluate first trimester screening test parameters in epileptic patients using anti-epileptic drugs. MATERIALS AND METHODS: We retrospectively evaluated first trimester screening test results of 23 epileptic pregnant women using anti-epileptic drugs with a control group consisting of 92 healthy pregnancies. The anti-epileptic drugs used in this study were carbamazepine, levatiracetam, valproic acid and lamotrigine. Single drug or multi-drug regimens were used according to the clinical conditions. Patients with any known chronic or acute disease and drug usage were excluded from the study. Comparisons were performed via Mann-Whitney U test. RESULTS: First trimester screening test biochemical markers were compared and maternal serum PAPP-A MoM values were found to be similar in study and control groups while ß-hCG MoM values were significantly higher in pregnancies using epileptic drugs (p: 0,737 and p < 0.001, respectively). CONCLUSION: Biochemical first trimester screening test results may be affected by anti-epileptic drug usage, which may lead to misinterpretation of the risk level. Thus, validation of MoM values should be necessary in order to obtain optimal results.

Maternal Mortality: 10 Year Experience of a Tertiary Center in Turkey.

We retrospectively evaluated five maternal mortality cases that occurred in our institution within the last 10 years. Rate of maternal mortality was 24.5 per 100000 live births. Maternal mortality causes were cardiopulmonary failure secondary to veno-occlusive disease, septic shock secondary to osteosarcoma, pulmonary thromboembolism secondary to metastatic breast cancer, septic shock secondary to cholecystitis, and postpartum hemorrhage secondary to Niemann-Pick disease. Four out of five cases were evaluated as indirect maternal mortality cases. Three out of five cases ended up with a healthy newborn, while other cases ended up with abortus and postpartum exitus.

Granulomatosis with polyangiitis and pregnancy: Anti-neutrophil cytoplasmic antibody, placental inflammation, chorangiosis and pre-eclampsia.

Granulomatosis with polyangiitis (GPA) is a rare necrotizing autoimmune disease involving small vessel vasculitis. Pregnancies with GPA have increased rates of obstetric complications including pre-eclampsia. Differential diagnosis of GPA flares up and pre-eclampsia may be difficult and necessitates careful clinical practice. A 26-year-old pregnant woman with GPA was referred for hypertension. The absence of GPA signs and symptoms, negative anti-neutrophil cytoplasmic antibody titer and the presence of clinical and laboratory findings supported the diagnosis of pre-eclampsia rather than a GPA flare-up. The newborn was delivered via cesarean section at the 30th gestational week due to severe superimposed pre-eclampsia. Pathological examination of the placenta demonstrated the presence of chorangiosis and focal placental infarcts. GPA should be considered as a risk factor in pregnancy and requires careful clinical management to have good gestational outcome. Physicians should be vigilant regarding gestational diabetes and pre-eclampsia as well as GPA flare-up.

Effects of ABO incompatibility in allogeneic hematopoietic stem cell transplantation.

INTRODUCTION: The impact of ABO mismatch on outcomes following allo-HSCT remains controversial. In this study, our aim is to define the effect of ABO mismatch on post-transplant outcomes, engraftment kinetics and complications in a large cohort. PATIENTS AND METHODS: We retrospectively identified 1000 patients who underwent allo-HSCT from either bone marrow or peripheral blood stem cells at our center between 1988 and 2016. P<0.05 was considered statistically significant. RESULTS: Five hundred and ninety (59%) patient-donor pairs were ABO matched, 164 (16.4%) were ABO major mismatched (MM), 191 (19.1%) were ABO minor MM, and 55 (5.5%) were ABO bi-directionally MM. ABO matched pairs were more common in transplants from related donors (P<0.001) and using bone marrow as a stem cell source (P<0.001). In minor ABO MM transplantations, mild delayed hemolytic reaction occurred more frequently compared to major and bidirectional ABO MM transplantations (47% vs 35% and 18%, P<0.001). Neutrophil engraftment was slightly delayed in ABO MM patient-donor pairs when compared ABO matched donor pairs according to median engraftment time in all group (167/410, 41% vs 204/590, 35%, P=0.046). Pure red cell aplasia was diagnosed in 6 patients (1%). Higher risk of death was shown in ABO MM transplants compared to ABO matched transplants in overall survival (OS) analysis (HR:1.201, 95% CI:1.004-1.437, P=0.045). The non-relapse mortality (P=0.546) and cumulative incidences of acute graft versus host disease (aGVHD) and chronic (c) GVHD were comparable between ABO MM and ABO matched patient-donor pairs (for aGVHD, P=0.235; for cGVHD, P=0.137). CONCLUSION: ABO MM transplants were associated with decreased OS and slightly delayed neutrophil engraftment. NRM and the risk of GVHD were not related to ABO incompatibility.

Congenital heart defects: the 10-year experience at a single center.

Objective: We aimed to evaluate congenital heart disease (CHD) cases according to EUROCAT subgroup classification that were diagnosed during the prenatal period in our center.Methods: CHDs that were prenatally diagnosed using ultrasonography and confirmed by fetal echocardiography were reviewed over a 10-year period. Subgroup classification was finalized at the post-partum period in terms of the EUROCAT guide 1.3. Congenital heart defect subtypes and obstetric outcomes (gestational week at delivery, birth weight, gender, extracardiac structural abnormalities, karyotype results if performed) were analyzed.Results: The data of 180 cases with CHD were examined. Left ventricular outflow tract obstruction (LVOT) was the most common CHD subtype (57/180; 31.6%), which included 48, five, and four cases of hypoplastic left heart syndrome (HLHS), coarctation of the aorta, and aortic valve atresia/stenosis, respectively. Eighteen pregnancies were terminated; the most common CHD subtype among patients of terminated pregnancies was hypoplastic left heart syndrome (HLHS) (n = 7, 38.8%). The most common extracardiac malformations were a single umbilical artery, esophageal atresia, and situs inversus in our study group. Eighteen of the 96 (18.75%) neonates with CHD died during the neonatal period. The most common CHD subtype was HLHS (7/18; 38%) among the newborns who died after birth.Conclusion: Prenatal diagnosis of a CHD and subgroup classification is very important for clinical decision making, including prenatal management, recommendations for termination of the pregnancy, postnatal management of the patient, and for early referral to pediatric cardiology and cardiovascular surgery centers.

Chorionic villus sampling experience of a reference perinatal medicine center.

AIM: To share the chorionic villus sampling (CVS) experience of a single surgeon in our institution. METHODS: This retrospective study consists of CVS cases performed between 2000 and 2018. A total of 66 types of indications were classified under two main categories, the screening group (SG) and the inherited disease group (IDG). The SG and IDG were compared in terms of clinical characteristics of the patients, Beksaç obstetrics index (BOI), timing of CVS in terms of gestational week, and complications and termination of pregnancy (TOP) rate. RESULTS: CVS was performed at 656 women, 69 and 587 of whom were included in the SG and IDG, respectively. CVS indications of the SG were determined as advanced maternal age, high risk in combined test, fetal anomaly suspicion in ultrasonography, and increased nuchal translucency in 23, 23, 14 and 9 cases, respectively. On the other hand, CVS indications of the IDG were hereditary disorders related to hematological, muscular, and metabolic systems for 233, 179, and 116 cases, respectively. Furthermore, 32 patients had a single-gene disorder and 14 had a neurodegenerative disease. According to the results of CVS, 359 fetuses were found to be normal (54.73%), while 205 (31.25%) and 92 (14.02%) fetuses were found to be disorder-positive or carriers, respectively. Two hundred pregnant women accepted TOP. Eight (1.2%) pregnancies ended with abortion after CVS. Statistically significant differences were observed in BOI and TOP rate between SG and IDG (p: 0.042 and 0.013). CONCLUSION: Hereditary disorders were the most common CVS indications and the acceptance of TOP was significantly higher in this group.

Perinatal outcomes of twenty-five human immunodeficiency virus-infected pregnant women: Hacettepe University experience

Objective: To evaluate perinatal outcomes in human immunodeficiency virus (HIV) infected pregnant women in Turkey. Material and Methods: Maternal characteristics, pregnancy complications, laboratory findings including HIV load, CD4 cell count, CD4/CD8 ratio, neonatal features and final HIV status of the baby were retrospectively analyzed. Results: The sample included 26 singleton pregnancies, from 25 HIV-infected women. The ethnicities were Turkish (n=18), East European (n=4), Asian (n=2) and African (n=2). The majority (76.9%) was aware of their HIV status before becoming pregnant. Four cases (15.3%) were diagnosed during pregnancy and two (7.8%) at the onset of labor. The results for median HIV viral load, CD4 count, and CD4/CD8 ratio at birth were 20 copies/mL (0-34 587), 577/mm3 (115-977), and 0.7 (0.1-1.9), respectively. The HIV viral load rate was 5.5% in eighteen women taking anti-retroviral treatment. The rates of gestational diabetes mellitus, gestational hypertension, intrauterine growth restriction, and preterm delivery were 3.8%, 3.8%, 7.6%, and 8% (numbers are 1;1;2;2), respectively. The mean gestational week at birth was 38 weeks and mean birthweight is 2972±329 g. Two babies were congenitally infected with HIV (infection rate of 8.3%). There was one needle-related accident during surgery. Conclusion: Timely diagnosis of HIV infection during pregnancy is important for preventing mother to child transmission. HIV infected women may give birth to HIV negative babies with the help of a multidisciplinary team, composed of perinatology, infectious diseases, and pediatrics specialists.

Human papillomavirus infection and autoimmune disorders: a tertiary center experience.

This study aimed to investigate the relationship between HPV and autoimmune disorders. We retrospectively evaluated 62 women who had HPV-DNA positivity in terms of autoimmune disorders (autoimmune antibody positivity, chronic inflammatory diseases and autoimmune diseases). The patients were divided into two groups according to autoimmune disorder positivity (autoimmune positive (n = 30), autoimmune negative (n = 32)) and compared with each other in terms of single and multiple HPV-DNA types, high and low-risk HPV-DNA types, and Pap smear findings. We determined that 48.4% of the HPV-DNA positive patients had autoimmune disorders. We found that 15 of 62 (24.2%) women had more than one type of HPV and HPV type 16 was the dominant type in this study (58.2%). A total of 27.4% of HPV-DNA positive patients had abnormal cytological findings. There was no statistically significant difference between autoimmune groups in terms of the presence of high-risk HPV types, multiple HPV types and abnormal cytological findings (P = 0.531, P = 0.558 and P = 0.234, respectively). The prevalence of autoimmune disorders was high among HPV-DNA positive women. On the other hand, the rate of high-risk HPV type positivity, multiple HPV infections and cytopathological findings were similar between the autoimmune positive and negative groups.

Management of a Pregnancy with a Solid Pseudopapillary Neoplasm of the Pancreas.

A 26-year-old primigravid patient, at 35 weeks and 2 days of gestation, was referred to Hacettepe University Hospital for pancreatic mass, giant cervical myoma, maternal systemic lupus erythematosus, thrombocytopenia, and onset of preterm labor. At 36 weeks and 1 day of gestation (6 days after admission to the hospital), regular uterine contractions started and cervical dilatation with effacement was observed. Because of breech presentation and giant cervical myoma, a cesarean section was performed on the primigravid patient under general anesthesia. Four months after the birth, subtotal pancreatectomy, partial gastrectomy, duodenectomy, cholecystectomy, and omentectomy (Whipple procedure) were performed. The pathologic diagnosis was of a solid pseudopapillary neoplasm of the pancreas; the patient was discharged from hospital after ten days.

Pregnancy in papillary thyroid cancer survivors

OBJECTIVE: To evaluate "papillary thyroid carcinoma-pregnancy" interaction among cancer survivors. MATERIAL AND METHODS: The clinical records of 8 pregnant women who received treatment for papillary thyroid cancer before their pregnancy were evaluated. Clinical features, pregnancy/perinatal outcomes and high-risk factors were compared with 45 controls who were randomly assigned from the institutional perinatal medicine database. RESULTS: Patients in the cancer group were older than the control group (34.3 vs 29.8 years). The cesarean section rate was higher (62.5% vs 33.3%) and the APGAR scores at the 1st and 5th minutes were lower in the cancer group. CONCLUSION: Management of pregnancies with papillary thyroid cancer treatment and follow-up requires a multidisciplinary approach with careful antenatal care and perinatal surveillance. Patients who have received papillary thyroid cancer treatment can safely undergo pregnancy.

Diagnosis, treatment, and response assessment in solitary plasmacytoma: updated recommendations from a European Expert Panel.

Solitary plasmacytoma is an infrequent form of plasma cell dyscrasia that presents as a single mass of monoclonal plasma cells, located either extramedullary or intraosseous. In some patients, a bone marrow aspiration can detect a low monoclonal plasma cell infiltration which indicates a high risk of early progression to an overt myeloma disease. Before treatment initiation, whole body positron emission tomography-computed tomography or magnetic resonance imaging should be performed to exclude the presence of additional malignant lesions. For decades, treatment has been based on high-dose radiation, but studies exploring the potential benefit of systemic therapies for high-risk patients are urgently needed. In this review, a panel of expert European hematologists updates the recommendations on the diagnosis and management of patients with solitary plasmacytoma.

Non-immune hydrops fetalis: A retrospective analysis of 151 autopsies performed at a single center.

Kayki G, Güçer S, Akçören Z, Orhan D, Talim B, Yurdakök M, Yigit S, Boduroglu OK, Utine GE, Örgül G, Beksac MS. Non-immune hydrops fetalis: A retrospective analysis of 151 autopsies performed at a single center. Turk J Pediatr 2018; 60: 471-477. We retrospectively evaluated autopsies performed on 151 non-immune hydrops fetalis (NIHF) cases to determine the etiology and pathological findings. Further, cases identified between 1980 and 2004 were compared with those identified between 2005 and 2015 to investigate the improvement of diagnostic performance of our institution. The mean gestational age during the fetal autopsy was 25 weeks. There were 30 live-born infants in the study group. The etiology of NIHF could be determined in 91 cases (60.3%), while it remained undefined in remaining 60 cases. The most commonly associated pathological conditions were cardiovascular malformations (11.3%), followed by chromosomal abnormalities (9.3%). Prior to 20th gestation week, genetic anomalies and cystic hygromas were the most common etiological factors, and after 30 weeks of gestation, cardiac abnormalities were found to be the most common causes. With time, the rate of undefined cases decreased from 48.4% to 33.75%. NIHF is a complex medical condition necessitating a multidisciplinary management approach. Progress in molecular genetics and imaging techniques is expected to improve diagnostic performance for rapid and better identification.

Prevention and management of adverse events of Novel agents in multiple myeloma: A consensus of the european myeloma network.

During the last few years, several new drugs have been introduced for treatment of patients with multiple myeloma, which have significantly improved treatment outcome. All of these novel substances differ at least in part in their mode of action from similar drugs of the same drug class, or are representatives of new drugs classes, and as such present with very specific side effect profiles. In this review, we summarize these adverse events, provide information on their prevention, and give practical guidance for monitoring of patients and for management of adverse events.Leukemia accepted article preview online, 18 December 2017. doi:10.1038/leu.2017.353.

Economic analysis of prenatal screening strategies for Down syndrome in singleton pregnancies in Turkey.

OBJECTIVES: To examine the costs and outcomes of different screening strategies for Down Syndrome (DS) in singleton pregnancies. STUDY DESIGN: A decision-analytic model was developed to compare the costs and the outcomes of different prenatal screening strategies. Five strategies were compared for women under 35-year of age: 1A) triple test (TT), 2A); combined test (CT), 3A) Non-invasive Prenatal Screening Test by using cell free fetal DNA (NIPT), 4A) and 5A) NIPT as a second-step screening for high-risk patients detected by either TT, or CT respectively. For women ≥35-year of age, 1B) implementing invasive test (amniocentesis -AC) and 2B) NIPT for all women were compared. Data was analyzed to obtain the outcomes, total costs, the cost per women and the incremental cost-effectiveness ratios (ICERs) for screening strategies. RESULTS: Among the current strategies for women under 35 years old, CT is clearly dominated to TT, as it is more effective and less costly. Although, the current routine practice (2A) is the least-costly strategy, implementing NIPT as a second step screening to high-risk women identified by CT (5A) would be more effective than 2A; leading to a 10.2% increase in the number of detected DS cases and a 96.3% reduction in procedural related losses (PRL). However, its cost to the Social Security Institution that is a public entity would be 17 times higher and increase screening costs by 1.5 times. Strategy 5A would result in an incremental cost effectiveness of 6,873,082 (PPP) US$ when compared to the current one (2A). Strategy 1B-for offering AC to all women ≥35-year of age is dominated over NIPT (2B), as it would detect more DS cases and would be less costly. On the other hand, there would be 206 PRL associated with AC, but NIPT provides clear clinical benefits as there would be no PRL with NIPT. CONCLUSIONS: NIPT leads to very high costs despite its high effectiveness in terms of detecting DS cases and avoiding PRL. The cost of NIPT should be decreased, otherwise, only individuals who can afford to pay from out-of-pocket could benefit. We believe that reliable cost-effective prenatal screening policies are essential in countries with low and smiddle income and high birth rates as well.

Management and outcomes of cystic hygromas: experience of a tertiary center.

PURPOSE: Cystic hygroma (CH) is a fetal sonographic finding with an incidence of 1%. Chromosomal abnormalities and structural malformations are commonly related with CH. We aimed to describe our experience and determine the association between diagnosis of CH and adverse pregnancy outcome. METHODS: We retrospectively reviewed data of prenatal CH diagnoses over a ten-year period. Cases were evaluated for maternal age, gestational week at CH diagnosis, invasive procedure, karyotype result, associated abnormality and perinatal outcome. We categorized cases into two groups to understand the impact of maternal age on perinatal outcomes, and the cut-off was 35 years old. RESULTS: Totally 28 individuals were enrolled in the study. The median maternal age at birth was 27.5 years old, and 7 patients were over 35 years old. Karyotype results were available for all individuals, and 15 had an abnormal chromosome (53.5%). Five fetuses had structural abnormalities, and they were all observed within patients under 35 years old. Healthy fetuses (without any problem at antenatal screening and birth) were found to be only 14.3% in advanced maternal age (AMA) group and 33.3% in young mothers. CONCLUSIONS: Women with AMA and CH had a higher risk of having a baby with a chromosomal abnormality, as compared with younger women.

Natural history of relapsed myeloma, refractory to immunomodulatory drugs and proteasome inhibitors: a multicenter IMWG study.

Introduction of new myeloma therapies offers new options for patients refractory to immunomodulatory drugs (IMiDs) and proteasome inhibitors (PIs). In this multicenter study, patients with relapsed multiple myeloma, who have received at least three prior lines of therapy, are refractory to both an IMiD (lenalidomide or pomalidomide) and a PI (bortezomib or carfilzomib), and have been exposed to an alkylating agent were identified. The time patients met the above criteria was defined as time zero (T0). Five hundred and forty-three patients diagnosed between 2006 and 2014 were enrolled in this study. Median age at T0 was 62 years (range 31-87); 61% were males. The median duration between diagnosis and T0 was 3.1 years. The median number of lines of therapy before T0 was 4 (range 3-13). The median overall survival (OS) from T0 for the entire cohort was 13 (95% confidence interval (CI) 11, 15) months. At least one regimen recorded after T0 in 462 (85%) patients, with a median (95% CI) progression-free survival and OS from T0 of 5 (4, 6), and 15.2 (13, 17) months, respectively. The study provides the expected outcome of relapsed multiple myeloma that is refractory to a PI and an IMiD, a benchmark for comparison of new therapies being evaluated.

Extracorporeal photochemotherapy in mycosis fungoides.

OBJECTIVES: Extracorporeal photo-chemotherapy (ECP, photopheresis) is an approved treatment modality for mycosis fungoides (MF). Our aim is to present our ECP data for MF. METHODS: We retrospectively evaluated 50 MF patients who received ECP for clinical activity, toxicity, and response and outcome rates, and we compared these with combination therapies. RESULTS: The overall response rate (ORR) was 42% (21/50), while the median time to response was 11months (range, 3-48months). Ten of the responders (48%) had 3 or more treatment lines prior to ECP. Eight patients (16%) had adverse events related to ECP. The overall survival (OS) of 50 patients was 72months (range, 3-211). There was no statistically significant difference in the OS in early-stage vs late-stage patients (77 vs 69months, P=0.077). The stage 3 and 4 patients received an average of 31 cycles compared to 55 cycles in stage 1 and 2 patients (P=0.006). The increased extent of ECP was not correlated with the response. Combined treatment with ECP significantly improved the OS (84months vs 62months, P=0.005). DISCUSSION: A low frequency of side effects and improved OS observed in combination therapy makes ECP a favorable option for treating MF.

Impact of Rare Bleeding Disorders during Pregnancy on Maternal and Fetal Outcomes: Review of 29 Pregnancies at a Single Center / Impacto de distúrbios hemorrágicos raros durante a gestação na mãe e no feto: revisão de 29 gestações em um único centro

ABSTRACT Objective: This study aims to give information about the relationship between different types of factor deficiencies and maternal/obstetric outcomes. Methods We retrospectively reviewed the medical records of eight women with factor deficiency disorders. The demographic and clinical features of the patients after their last pregnancies were registered retrospectively. Results: There were 29 pregnancies among the 8 patients. The spontaneous abortion rate was relatively high in two patients with factor XIII deficiency (80% and 57.1%) compared with the other factor deficiency groups. There were 16 births, which included 1 set of twins, and 2 deaths (1 stillbirth and 1 postpartum exitus occurred in the same patient). Intrauterine growth restriction was noted in five cases; four of these occurred in factor X deficiency cases. The mean decrease in hemoglobin level of all patients after birth was 1.7 g/dL (range, 0.2-3.6 g/dL). Red blood cell transfusion was required only in one case of factor XIII deficiency. Conclusions: There is currently no consensus on the pregnancy management of women with factor deficiencies because of the limited knowledge due to the rarity of such disorders. Labor should be managed in a dedicated unit with a team consisting of an obstetrician, a hematologist, an anesthesiologist, a midwife, and a pediatrician to minimalize the complications.

RESUMO Objetivo: O presente estudo objetiva fornecer informações sobre a relação entre diferentes tipos de deficiências de fator e resultados obstétricos e maternais. Métodos Análise retrospectiva de registros médicos de oito mulheres com deficiências de fator. Dados demográficos e clínicos das pacientes após sua última gestação foram obtidos. Resultados: Vinte e nove gestações ocorreram entre as oito pacientes. As taxas de abortos espontâneos foram relativamente altas em duas pacientes com deficiência de fator XIII (80% e 57,1%) se comparadas aos demais grupos de deficiências de fator. Ocorreram dezesseis nascimentos, sendo que um deles foi o de um par de gêmeos, e dois óbitos (um natimorto e um pós-parto na mesma paciente). Restrição de crescimento intrauterino foi identificada em cinco casos, sendo quatro destes com deficiência de fator X. A principal baixa em nível de hemoglobina entre todas as pacientes após o parto foi de 1,7 g/dL (variação, 0,2-3,6 g/dL). Transfusão de hemácias foi necessária apenas em um caso com deficiência de fator XIII. Conclusão: Não há consenso atualmente para o manejo de gestantes com deficiências de fator em função do conhecimento limitado, dada a raridade de tais condições. O parto deve ocorrer em uma unidade específica com uma equipe composta de obstetra, hematologista, anestesista, parteira, e pediatra para minimizar as complicações