European reference network for rare inherited congenital anomalies (ERNICA) evidence based guideline on the management of gastroschisis.

BACKGROUND: The European Reference Network for rare Inherited Congenital Anomalies, ERNICA, guidelines for gastroschisis cover perinatal period to help teams to improve care. METHOD: A systematic literature search including 136 publications was conducted. Research findings were assessed following the GRADE methodology. The evidence to decision framework was used to determine the strength and direction of recommendations. RESULTS: The mode or timing of delivery do not impact neonatal mortality, risk of NEC or time on parenteral nutrition (PN). Intra or extra abdominal bowel dilatation predict complex gastroschisis and longer length of hospital stay but not increased perinatal mortality. Outcomes after Bianchi procedure and primary fascia closure under anesthesia are similar. Sutureless closure decreases the rate of surgical site infections and duration of ventilation compared to surgical closure. Silo-staged closure with or without intubation results in similar outcomes. Outcomes of complex gastroschisis (CG) undergoing early or delayed surgical repair are similar. Early enteral feeds starting within 14 days is associated with lower risk of surgical site infection. RECOMMENDATIONS: The panel suggests vaginal birth between 37 and 39 w in cases of uncomplicated gastroschisis. Bianchi's approach is an option in simple gastroschisis. Sutureless closure is suggested when general anesthesia can be avoided, sutured closure. If anesthesia is required. Silo treatment without ventilation and general anesthesia can be considered. In CG with atresia primary intestinal repair can be attempted if the condition of patient and intestine allows. Enteral feeds for simple gastroschisis should start within 14 days.

Cesarean Scar Thickness Decreases during Pregnancy: A Prospective Longitudinal Study.

Background and Objectives: The aim of this study is to evaluate changes in uterine scar thickness after previous cesarean delivery longitudinally during pregnancy, and to correlate cesarean section (CS) scar myometrial thickness in the first trimester in two participants groups (CS scar with a niche and CS scar without a niche) with the low uterine segment (LUS) myometrial thickness changes between the second and third trimesters. Materials and Methods: In this prospective longitudinal study, pregnant women aged 18−41 years after at least one previous CS were included. Transvaginal sonography (TVS) was used to examine uterine scars after CS at 11−14 weeks. The CS scar niche ("defect") was defined as an indentation at the site of the CS scar with a depth of at least 2 mm in the sagittal plane. Scar myometrial thickness was measured, and scars were classified subjectively as a scar with a niche (niche group) or without a niche (non-niche group). In the CS scar niche group, RMT (distance from the serosal surface of the uterus to the apex of the niche) was measured and presented as CS scar myometrial thickness in the first trimester. The myometrial thickness at the internal cervical os was measured in the non-niche group. The full LUS and myometrial LUS thickness at 18−20 and 32−35 weeks of gestation were measured in the thinnest part of the scar area using TVS. Friedman's ANOVA test was used to analyse scar thickness during pregnancy and Mann−Whitney test to compare scar changes between CS scar niche and non-niche women groups. For a pairwise comparison in CS scar thickness measurements in the second and third trimesters, we used Wilcoxon Signed Ranks test. Results: A total of 122 eligible participants were recruited to the study during the first trimester of pregnancy. The scar niche was visible in 40.2% of cases. Uterine scar myometrial thickness decreases during pregnancy from 9.9 (IQR, 5.0−12.9) at the first trimester to 2.1 (IQR, 1.7−2.7) at the third trimester of pregnancy in the study population (p = 0.001). The myometrial CS scar thickness in the first trimester (over the niche) was thinner in the women's group with CS scar niche compared with the non-niche group (at internal cervical os) (p < 0.001). The median difference between measurements in the CS scar niche group and non-niche group between the second and third trimester was 2.4 (IQR, 0.8−3.4) and 1.1 (IQR, 0.2−2.6) (p = 0.019), respectively. Myometrial LUS thickness as percentage decreases significantly between the second and third trimester in the CS scar niche group compared to the non-niche group (U = 1225; z = −2.438; p = 0.015). Conclusions: CS scar myometrial thickness changes throughout pregnancy and the appearance of the CS scar niche was associated with a more significant decrease in LUS myometrial thickness between the second and third trimesters.

Transvaginal Sonographic Evaluation of Cesarean Section Scar Niche in Pregnancy: A Prospective Longitudinal Study.

Background and Objectives: To investigate the prevalence of a Cesarean section (CS) scar niche during pregnancy, assessed by transvaginal ultrasound imaging, and to relate scar measurements, demographic and obstetric variables to the niche evolution and final pregnancy outcome. Materials and Methods: In this prospective observational study, we used transvaginal sonography to examine the uterine scars of 122 women at 11+0-13+6, 18+0-20+6 and 32+0-35+6 weeks of gestation. A scar was defined as visible on pregnant status when the area of hypoechogenic myometrial discontinuity of the lower uterine segment was identified. The CS scar niche ("defect") was defined as an indentation at the site of the CS scar with a depth of at least 2 mm in the sagittal plane. We measured the hypoechogenic part of the CS niche in two dimensions, as myometrial thickness adjacent to the niche and the residual myometrial thickness (RMT). In the second and third trimesters of pregnancy, the full lower uterine segment (LUS) thickness and the myometrial layer thickness were measured at the thinnest part of the scar area. Two independent examiners measured CS scars in a non-selected subset of patients (n = 24). Descriptive analysis was used to assess scar visibility, and the intraclass correlation coefficient (ICC) was calculated to show the strength of absolute agreement between two examiners for scar measurements. Factors associated with the CS scar niche, including maternal age, BMI, smoking status, previous vaginal delivery, obstetrics complications and a history of previous uterine curettage, were investigated. Clinical information about pregnancy outcomes and complications was obtained from the hospital's electronic medical database. Results: The scar was visible in 77.9% of the women. Among those with a visible CS scar, the incidence of a CS scar niche was 51.6%. The intra- and interobserver agreement for CS scar niche measurements was excellent (ICC 0.98 and 0.89, respectively). Comparing subgroups of women in terms of CS scar niche (n = 49) and non-niche (n = 73), there was no statistically significant correlation between maternal age (p = 0.486), BMI (p = 0.529), gestational diabetes (p = 1.000), smoking status (p = 0.662), previous vaginal delivery after CS (p = 1.000) and niche development. Uterine scar niches were seen in 56.3% (18/48) of the women who had undergone uterine curettage, compared with 34.4% (31/74) without uterine curettage (p = 0.045). We observed an absence of correlation between the uterine scar niche at the first trimester of pregnancy and mode of delivery (p = 0.337). Two cases (4.7%) of uterine scar dehiscence were confirmed following a trial of vaginal delivery. Conclusions: Based on ultrasonography examination, the CS scar niche remained visible in half of the cases with a visible CS scar at the first trimester of pregnancy and could be reproducibly measured by a transvaginal scan. Previous uterine curettage was associated with an increased risk for uterine niche formation in a subsequent pregnancy. Uterine scar dehiscence might be potentially related to the CS scar niche.

Experience of Managing Suspected Placenta Accreta Spectrum with or without Internal Iliac Artery Balloon Occlusion in Two Lithuanian University Hospitals.

Background and objectives: Placenta previa and placenta accreta spectrum are considered major causes of massive postpartum hemorrhage. Objective: To determine whether the placement of an occlusion balloon catheter in the internal iliac artery could reduce bleeding and other related complications during cesarean delivery in patients with placenta previa and placenta accreta spectrum. Materials and Methods: A retrospective analysis was conducted at two tertiary obstetric units of Lithuania. From January 2016 to November 2019 patients with placenta previa and antenatally suspected invasive placenta were included in the intervention group and underwent cesarean delivery with endovascular procedure. From January 2014 to December 2015 patients with placenta previa and suspected placenta accreta spectrum were included in the non-intervention group. The primary outcomes were reduction in intraoperative blood loss and transfusion volumes in the intervention group. Secondary outcomes were the incidence of hysterectomy and maternal complications. Results: Nineteen patients underwent cesarean delivery with preoperative endovascular procedure, and 47 women underwent elective cesarean delivery. The median intraoperative blood loss (1000 (400-4500) mL vs. 1000 (400-5000) mL; p = 0.616) and the need for red blood cell transfusion during operation (26% vs. 23%; p = 0.517) did not differ significantly between the patients groups. Seven patients in the intervention group and two patients in the non-intervention group underwent perioperative hysterectomy (p = 0.002). None of the patients had complications related to the endovascular procedure. Conclusion: The use of intermittent balloon occlusion catheter in patients with placenta pathology is a safe method but does not significantly reduce intraoperative blood loss during cesarean delivery.

Evaluation of Chromosomal Structural Anomalies in Fertility Disorders.

Background and objectives: Reproductive disorders may occur not only due to environmental factors (air pollution, stressful lifestyle, previous abortions or the use of contraceptives) but also due to genetic factors. Materials and Methods: The aim of the study was to identify the range and frequency of chromosomal aberrations in couples (n = 99) with infertility or recurrent miscarriages in Lithuania. The data were collected from the out-patient medical histories. The couples were divided into three groups based on pregnancy, childbirth and the number of miscarriages. The Chi-square test was used to carry out the statistical analysis, and the statistical significance was (p < 0.05). Results: There were 6.6% (n = 13) structural changes observed in the karyotype tests. Chromosomal aberrations were found in 3% (n = 6) of the subjects, while 3.6% (n = 7) of them had chromosomal length polymorphisms. No difference was found between the aberration frequency in the karyotypes of men and women (p > 0.05). The most common aberrations were balanced translocations (23.1%, n = 3) which accounted for 15.4% of the reciprocal (n = 2) and 7.7% of the Robertsonian type (n = 1) of translocations. The most frequent aberrations were found in couples with the inability to conceive (42.9% (n = 3), p = 0.031). The childless couples and those with recurrent miscarriages showed an aberration rate of 8.2% (n = 5), while in the couples with at least one child it was 16.1% (n = 5). The group of couples unable to conceive had a significantly higher aberration rate of 28.6% (n = 2), p = 0.029. Miscarriages in partners' families accounted for 8.1%. Miscarriages on the female side of the family accounted for 4.5% (n = 9), on the male side it accounted for 2.5% (n = 5) and on both sides it accounted for 1.1% (n = 2). There were no statistically significant differences observed between the female and male sides (p > 0.05). The miscarriages observed in the second group of couples (childless with ≥2 miscarriages) were more frequent at 18.1% (n = 11), in the third group (having children ≥2 miscarriages) they were less frequent at 12.9% (n = 4), while no miscarriages were recorded in the first group of infertile couples. In total, 3% of the identified significant chromosomal aberrations were likely to trigger miscarriages or the inability to conceive. Conclusions: In couples with reproductive disorders, chromosomal mutations and chromosomal length polymorphisms were found at similar rates: 3% vs. 3.6%. The highest aberration rate was found in couples that were unable to conceive, a lower one was found in a group with children and ≥2 miscarriages, and the lowest one was found in a childless group of subjects with ≥2 miscarriages. The miscarriage rate in partner families was 8.1%; however, no difference was found between the male and female sides.

Symptomatic Uterine Rupture: A Fifteen Year Review.

Background and objectives: To assess the incidence of complete and partial uterine rupture during childbirth in a single tertiary referral centre as well as the significant risk factors, symptoms and peripartum complications. Materials and Methods: A retrospective single-centre study involved all cases of uterine rupture at the Kaunas Perinatal Centre in 2004-2019. Data were from a local medical database complemented with written information from medical records. We included 45,893 women with an intact uterus and 5630 with uterine scars. Women (n = 5626) with scarred uterus' after previous cesarean delivery. The diagnosis was defined by clinical symptoms, leading to an emergency cesarean delivery, when complete or partial uterine rupture (n = 35) was confirmed. Asymptomatic cases, when uterine rupture was found at elective cesarean section (n = 3), were excluded. The control group is represented by all births delivered in our department during the study period (n = 51,525). The outcome was complete (tearing of all uterine wall layers, including serosa and membranes) and partial uterine rupture (uterine muscle defect but intact serosa), common uterine rupture symptoms. Risk factors were parameters related to pregnancy and labour. Results: 51,525 deliveries occurred in Kaunas Perinatal Centre during the 15 years of the study period. A total number of 35 (0.06%) symptomatic uterine ruptures were recorded: 22 complete and 13 partial, leading to an incidence rate of 6.8 per 10,000 deliveries. The uterine rupture incidence rate after a single previous cesarean delivery is 44.4 per 10,000 births. 29 (83%) cases had a uterine scar after previous cesarean, 4 (11%) had a previous laparoscopic myomectomy, 2 (6%) had an unscarred uterus. The most significant risk factors of uterine rupture include uterine scarring and augmentation or epidural anaesthesia in patients with a uterine scar after cesarean delivery. The most common clinical sign was acute abdominal pain in labour 18 (51%). No maternal, six intrapartum perinatal deaths (17%) occurred, and one hysterectomy (2.8%) was performed due to uterine rupture. Neonatal mortality reached 22% among the complete ruptures. Average blood loss was 1415 mL, 4 (11%) patients required blood transfusion. Conclusions: The incidence rate of uterine rupture (complete and incomplete) at Kaunas Perinatal Centre is 6.8 per 10,000 deliveries. In cases with a scar of the uterus after a single cesarean, the incidence of uterine rupture is higher, exceeding 44 cases per 10,000 births. The most significant risk factors were uterine scar and augmentation or epidural anaesthesia in a previous cesarean delivery. Acute abdominal pain in labour is the most frequent symptom for uterine rupture.

Perceived changes in knowledge and confidence of doctors and midwives after the completion of the Standardized Trainings in Obstetrical Emergencies.

BACKGROUND AND OBJECTIVES: There are only few training programs in obstetric emergencies currently in use and only some of them were evaluated with an adequate sample of participants. Therefore, we present the evaluation of the novel Standardized Trainings in Obstetrical Emergencies (STrObE), conducted in Lithuania. The aim of this study was to analyze whether participants' self-reported knowledge and confidence increased after the trainings, and whether the impact of the trainings was long-lasting. MATERIALS AND METHODS: Data was collected across the majority of hospitals providing secondary and tertiary obstetrical care in Lithuania in 2015. A total of 650 obstetricians-gynecologists and midwives attended the trainings; 388 (response rate 59.7%) of them filled in the initial questionnaire before the trainings, 252 (64.9%) immediately after, 160 (41.2%) 6 weeks after, and 160 (41.2%) 6 months after the trainings, which was the final sample for the analyses. Participants used a Likert-type scale to evaluate their knowledge and confidence about management of urgent obstetrical situations: vacuum-assisted vaginal delivery, shoulder dystocia, postpartum hemorrhage, preeclampsia/eclampsia, early preterm labor, and dystocia. We assessed how participants' self-reported knowledge and confidence changed after the trainings (compared to before the trainings) and how long the effect was retained for. RESULTS: The mean score of self-reported knowledge in obstetrical emergencies increased immediately after the trainings comparing to the scores before the trainings (P<0.001) and it did not differ further between the three time points after the trainings (i.e. immediately, 6 weeks, and 6 months; P>0.05). The same pattern was observed for self-reported confidence scores. The increase in self-reported knowledge and confidence after the trainings was stable. Moreover, the self-reported knowledge and confidence gains were greater for those participants with lower work experience, although benefit was seen across all experience levels. CONCLUSIONS: STrObE improved participants' self-reported knowledge and confidence and lasting positive effects were observed for at least 6 months after the initial trainings. Moreover, the trainings were more beneficial for those with lower work experience, although they benefited all the participants.

Recién nacida normal con sospecha prenatal de monosomía del cromosoma X debido a mosaicismo confinado a la placenta / Normal newborn with prenatal suspicion of X chromosome monosomy due to confined placental mosaicism

La reciente introducción de las pruebas prenatales no invasivas (NIPT, por sus siglas en inglés) basadas en el ADN libre ofrece un método más preciso que los métodos tradicionales de detección en el suero materno para identificar aneuploidías fetales. La eficacia de las pruebas NIPT para detectar los síndromes de Down, Edwards y Patau se ha demostrado en ensayos clínicos. Sin embargo, los enfoques de las pruebas NIPT que aprovechan la información sobre el polimorfismo de un solo nucleótido (SNP, por sus siglas en inglés) tienen el potencial de identificar triploidías, síndromes de microdeleción cromosómica y otras variantes genéticas no habituales. Para destacar este enfoque de las pruebas NIPT, se presenta un caso poco frecuente de monosomía del cromosoma X debido a mosaicismo confinado a la placenta, del que había una sospecha prenatal por el resultado de una prueba prenatal no invasiva basada en el polimorfismo de un solo nucleótido. Los resultados de las pruebas invasivas (amniocentesis) mostraron una pequeña proporción de mosaicismo del cromosoma X (45, X[5]/46, XX[95]). Después del nacimiento, el cariotipo de la niña no reveló anomalías (46 XX), lo que confirmó que el mosaicismo se limitaba a la placenta. Estos resultados ponen de manifiesto la necesidad del consentimiento informado de la paciente, y del minucioso asesoramiento anterior y posterior a las pruebas, para garantizar que comprenda las limitaciones y las ventajas de dichas pruebas, y las repercusiones de los resultados.

The recent introduction of cell-free DNA (cfDNA)-based noninvasive prenatal testing (NIPT) offers pregnant women a more accurate method than traditional serum screening methods for detecting fetal aneuploidies. Clinical trials have demonstrated the efficacy of NIPT for Down, Edwards and Patau syndromes. However NIPT approaches that take advantage of single-nucelotide polymorphism (SNP) information potentially allow the identification of triploidy, chromosomal microdeletion syndromes and other unusual genetic variants. To highlight this approach of NIPT we present a rare case of confined placental X chromosome monosomy mosaicism that was prenatally suspected with a single-nucleotide polymorphism-based noninvasive prenatal test. The results of invasive tests (amniocentesis) showed small proportion of X chromosome mosaicism (45, X[5]/46, XX[95]). After birth karyotype of the girl revealed no abnormalities (46 XX), confirming that mosaicism was limited to the placenta. These results highlight the need of patient's informed consent and thorough pretest and postest counseling to ensure that they understand the limitations and advantages of the tests and the implications of the resultss.

Normal newborn with prenatal suspicion of X chromosome monosomy due to confined placental mosaicism. / Recién nacida normal con sospecha prenatal de monosomía del cromosoma X debido a mosaicismo confinado a la placenta.

The recent introduction of cell-free DNA (cfDNA)-based noninvasive prenatal testing (NIPT) offers pregnant women a more accurate method than traditional serum screening methods for detecting fetal aneuploidies. Clinical trials have demonstrated the efficacy of NIPT for Down, Edwards and Patau syndromes. However NIPT approaches that take advantage of single-nucelotide polymorphism (SNP) information potentially allow the identification of triploidy, chromosomal microdeletion syndromes and other unusual genetic variants. To highlight this approach of NIPT we present a rare case of confined placental X chromosome monosomy mosaicism that was prenatally suspected with a single-nucleotide polymorphism-based noninvasive prenatal test. The results of invasive tests (amniocentesis) showed small proportion of X chromosome mosaicism (45, X[5]/46, XX[95]). After birth karyotype of the girl revealed no abnormalities (46 XX), confirming that mosaicism was limited to the placenta. These results highlight the need of patient's informed consent and thorough pretest and postest counseling to ensure that they understand the limitations and advantages of the tests and the implications of the resultss.

La reciente introducción de las pruebas prenatales no invasivas (NIPT, por sus siglas en inglés) basadas en el ADN libre ofrece un método más preciso que los métodos tradicionales de detección en el suero materno para identificar aneuploidías fetales. La eficacia de las pruebas NIPT para detectar los síndromes de Down, Edwards y Patau se ha demostrado en ensayos clínicos. Sin embargo, los enfoques de las pruebas NIPT que aprovechan la información sobre el polimorfismo de un solo nucleótido (SNP, por sus siglas en inglés) tienen el potencial de identificar triploidías, síndromes de microdeleción cromosómica y otras variantes genéticas no habituales. Para destacar este enfoque de las pruebas NIPT, se presenta un caso poco frecuente de monosomía del cromosoma X debido a mosaicismo confinado a la placenta, del que había una sospecha prenatal por el resultado de una prueba prenatal no invasiva basada en el polimorfismo de un solo nucleótido. Los resultados de las pruebas invasivas (amniocentesis) mostraron una pequeña proporción de mosaicismo del cromosoma X (45, X[5]/46, XX[95]). Después del nacimiento, el cariotipo de la niña no reveló anomalías (46 XX), lo que confirmó que el mosaicismo se limitaba a la placenta. Estos resultados ponen de manifiesto la necesidad del consentimiento informado de la paciente, y del minucioso asesoramiento anterior y posterior a las pruebas, para garantizar que comprenda las limitaciones y las ventajas de dichas pruebas, y las repercusiones de los resultados.

[Disseminated ovarian, bone, and bone marrow metastases from gastric cancer]. / Kiausidziu, kaulu ir kaulu ciulpu metastazes sergant isplitusiu skrandzio veziu.

The main cause of death in patients with gastric cancer is disease dissemination. It is not clear why gastric cancer metastasizes to different organs. Early detection and destruction of circulating malignant cells before developing metastases may markedly improve survival of these patients. Krukenberg tumors (metastases of non-gynecological origin in the ovaries) usually are circular cell carcinomas of gastric cancer. Bone metastases of gastric cancer are rare, but if they are diagnosed, patients survive only 2-5 months on the average. Disseminated bone marrow metastases from gastric cancer do not always show the sudden course of the disease, but hematological complications are signs of poor prognosis. Hematological paraneoplastic disorders can be miscellaneous: they usually manifest as anemia of various origin, as leucocytosis in half of the patients, as leukemoid reactions in one-third of the patients, and as hemolysis and thrombocytopenia in half of the patients (often with disseminated intravascular coagulation). Currently, chemotherapy is the most effective treatment for outspread gastric cancer. Unfortunately, there is no exclusively effective scheme for treatment. Lymph node metastases are more sensitive to chemotherapy than primary gastric cancer, while in contrary, hepatic metastases are less sensitive than primary gastric cancer. This article includes a literature review and a rare case of gastric cancer.