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1.
J Assist Reprod Genet ; 39(2): 357-367, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-35079943

RESUMO

Spontaneous abortion occurs in 8-20% of recognized pregnancies and usually takes place in the first trimester (7-11 weeks). There are many causes of pregnancy loss, but the most important (about 75%) is the presence of chromosomal aberrations. We present the results of oligonucleotide array application in a cohort of 62 miscarriage cases. The inclusion criteria for the study were the loss after 8th week of pregnancy and the appearance of recurrent miscarriages. DNA was extracted from trophoblast or fetal skin fibroblasts. In the 62 tested materials from recurrent miscarriages, the detection rate was 56.5% (35/62). The most commonly found were aneuploidies (65%) (chromosomal trisomy 14, 16, 18, 21, and 22), Turner syndrome, and triploidy (17.1%). Other chromosomal abnormalities included pathogenic and likely pathogenic structural aberrations: 1) pathogenic: deletion 7p22.3p12.3 and duplication 9p24.3p13.2 inherited from the normal father, deletion 3q13.31q22.2 and deletion 3q22.3q23 of unknown inheritance and duplication of 17p12 inherited from father with foot malformation; 2) likely pathogenic variants: deletion 17p13.1 inherited from normal mother, deletion 5q14.3 of unknown inheritance and de novo deletion 1q21.1q21.2. Among these aberrations, six CNVs (copy number variants) were responsible for the miscarriage: deletion 7p22.3p12.3 and duplication 9p24.3p13.2, deletion 3q13.31q22.2 and deletion 3q22.3q23, and deletion 17p13.1 and deletion 1q21.1q21.2. Other two findings were classified as incidental findings (deletion 5q14.3 and 17p12 duplication). Our research shows that 17% of the aberrations (6/35 abnormal results) that cannot be identified by the routine kariotype analysis are structural aberrations containing genes important for fetal development, the mutations of which may cause spontaneous abortion.


Assuntos
Aborto Habitual , Aberrações Cromossômicas , Aborto Habitual/genética , Hibridização Genômica Comparativa , Variações do Número de Cópias de DNA/genética , Feminino , Humanos , Gravidez , Trissomia
2.
Ginekol Pol ; 93(12): 980-986, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35315022

RESUMO

OBJECTIVES: To summarize our five-year experience with managing patients diagnosed with wide range of PAS disorder and treated with prophylactic internal iliac balloon implantation prior to cesarean section and to assess maternal and fetal outcomes. MATERIAL AND METHODS: Retrospective cohort study. RESULTS: A total of 30 patients were included in the study. Hysterectomy was performed in 10 cases - partial hysterectomy in six and total hysterectomy in four. Median estimated blood loss was 1.18 L. In two cases technical complications were noted. In one case bilateral internal iliac artery thrombosis requiring urgent surgical intervention occurred. A total of 30 live infants were delivered. Mean birth weight was 2435 g and mean Apgar score at 1', 5' and 10' minutes was 6.8, 8 and 8.7 respectively. After average 30 days of hospitalization all infants and their mothers were discharged in good clinical condition. CONCLUSIONS: Placenta accreta spectrum remains a challenge for obstetricians and gynecologists and despite interdisciplinary approach is associated with numerous complications with life-threatening postpartum hemorrhage being the most serious one. Prophylactic placement of iliac balloons is a minimally invasive and safe endovascular technique which allows rapid and effective control of postpartum bleeding in patients with PAS, with low complication rate for both mother and the child.


Assuntos
Oclusão com Balão , Placenta Acreta , Hemorragia Pós-Parto , Criança , Gravidez , Humanos , Feminino , Cesárea/efeitos adversos , Oclusão com Balão/métodos , Estudos Retrospectivos , Placenta Acreta/cirurgia , Artéria Ilíaca , Cateterismo/efeitos adversos , Histerectomia/efeitos adversos , Hemorragia Pós-Parto/etiologia , Hemorragia Pós-Parto/prevenção & controle , Perda Sanguínea Cirúrgica/prevenção & controle
3.
Genes (Basel) ; 13(4)2022 04 14.
Artigo em Inglês | MEDLINE | ID: mdl-35456496

RESUMO

The aim of this study was to determine the suitability of the comparative genomic hybridization to microarray (aCGH) technique for prenatal diagnosis, but also to assess the frequency of chromosomal aberrations that may lead to fetal malformations but are not included in the diagnostic report. We present the results of the aCGH in a cohort of 7400 prenatal cases, indicated for invasive testing due to ultrasound abnormalities, high-risk for serum screening, thickened nuchal translucency, family history of genetic abnormalities or congenital abnormalities, and advanced maternal age (AMA). The overall chromosomal aberration detection rate was 27.2% (2010/7400), including 71.2% (1431/2010) of numerical aberrations and 28.8% (579/2010) of structural aberrations. Additionally, the detection rate of clinically significant copy number variants (CNVs) was 6.8% (505/7400) and 0.7% (57/7400) for variants of unknown clinical significance. The detection rate of clinically significant submicroscopic CNVs was 7.9% (334/4204) for fetuses with structural anomalies, 5.4% (18/336) in AMA, 3.1% (22/713) in the group of abnormal serum screening and 6.1% (131/2147) in other indications. Using the aCGH method, it was possible to assess the frequency of pathogenic chromosomal aberrations, of likely pathogenic and of uncertain clinical significance, in the groups of cases with different indications for an invasive test.


Assuntos
Aberrações Cromossômicas , Feto , Hibridização Genômica Comparativa/métodos , Feminino , Feto/anormalidades , Humanos , Análise em Microsséries/métodos , Polônia , Gravidez
4.
Wideochir Inne Tech Maloinwazyjne ; 16(1): 243-248, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-33786140

RESUMO

INTRODUCTION: Caesarean scar pregnancy (CSP) is a relatively rare yet life-threatening condition in which the embryo is implanted in the scar after caesarean section. Recent studies have reported that uterine artery chemoembolisation (UAC) can be safe and effective method in treating CSP. AIM: To present the clinical outcome of UAC with a mixture of methotrexate and gelatine sponge for the treatment of CSP and analysis of procedural failure. MATERIAL AND METHODS: Forty-one patients diagnosed with CSP were treated with selective endovascular chemoembolisation of uterine arteries. Short- and long-term results, reasons for procedural failure, and clinical outcome were analysed. RESULTS: Primary procedure failed in 7 out of 41 (17%) cases. In 4 cases additional blood supply to the CSP was disclosed; 3 out of 4 from an ovarian artery and one from a superior vesical artery. In other 3 patients, reperfusion of uterine arteries was observed. All these 7 patients underwent successful secondary embolisation. The majority of the followed-up patients reported regular menses after the intervention. Four women suffered from amenorrhoea and 2 from hypomenorrhoea that continued after 90 days. Twelve patients expressed the desire for subsequent pregnancy. From this group, 5 conceived within a year of the procedure. The rest did not achieve a pregnancy. CONCLUSIONS: UAC proved to be a safe and effective method and should be considered as an option for CSP treatment, especially for women hoping to preserve their fertility. However, the presence of collateral blood supply should always be considered.

5.
Ginekol Pol ; 74(8): 646-9, 2003 Aug.
Artigo em Polonês | MEDLINE | ID: mdl-14531345

RESUMO

OBJECTIVES: Perinatal mortality rate is important expression of public health care. Estimation of the real effects of medical procedures needs a proficient information flow. MATERIAL AND METHODS: Authors compared data from Polish Official Statistics with data transferred from obstetric departments of regional hospitals in Lublin province. RESULTS: There were significant divergences concerning neonatal mortality. Hospitals reported 33 deaths less than statistical office. In order to explain the divergence found the new forms for reporting were prepared. CONCLUSION: Secondary analysis of the results exerted, that data obtained from Polish Official Statistics were correct.


Assuntos
Controle de Formulários e Registros/normas , Mortalidade Infantil , Prontuários Médicos/normas , Assistência Perinatal/estatística & dados numéricos , Feminino , Morte Fetal/epidemiologia , Humanos , Recém-Nascido , Assistência Perinatal/normas , Polônia/epidemiologia , Garantia da Qualidade dos Cuidados de Saúde
6.
Ginekol Pol ; 74(11): 1498-503, 2003 Nov.
Artigo em Polonês | MEDLINE | ID: mdl-15029741

RESUMO

OBJECTIVES: The aim of the study was to analyse the effects of regionalization of perinatal care in Lublin District from 1994 to 2001. MATERIALS AND METHODS: We assessed the number of patients transferred to the tertiary care centres, mortality rate and prematurity in the hospitals in Lublin District. RESULTS: We found good correlation between above variables and perinatal care level. CONCLUSION: We concluded that perinatal regionalization in Lublin District worked well and it was the cause of improvement in perinatal outcome.


Assuntos
Serviços de Saúde Materna/organização & administração , Assistência Perinatal/organização & administração , Programas Médicos Regionais/organização & administração , Feminino , Maternidades/organização & administração , Humanos , Recém-Nascido , Polônia , Gravidez , Garantia da Qualidade dos Cuidados de Saúde
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