Successful pregnancy and delivery management in a patient with Bernard Soulier Syndrome.

Bernard Soulier Syndrome (BSS) is an inherited bleeding disorder characterized by macrothrombocytopenia and absence of ristocetin-induced platelet aggregation. Clinical findings vary from person to person. Most of the patients are diagnosed with muco-cutaneous bleeding such as purpura, epistaxis and gingival bleeding in early childhood. Few pregnant women with BSS are described in the literature. Management of thrombocytopenia during pregnancy and delivery requires a multidisciplinary approach. The family should be warned about the potentially life-threatening bleeding during pregnancy and the delivery and the decision about mode of delivery should be individualised, involving discussion with patient and multidisciplinary team.

A quantitative sonoelastography evaluation of ocular and periocular elasticity after intravitreal ranibizumab injection.

PURPOSE: We evaluated changes in ocular and periocular elasticity by ultrasound (US) elastography in intravitreal ranibizumab-treated eyes and the healthy fellow eyes of patients with neovascular AMD. METHODS: The study was performed on 52 eyes of 26 volunteers who ranged in age from 59 to 89 (mean 72±7.78) years old. The study group consisted of the patients with neovascular AMD treated with intravitreal ranibizumab. The fellow eyes (without choroidal neovascularization) of the study group were selected as the control group. All patients were examined with sonoelastography before intravitreal injection and at 1day, 1week, and 1month after intravitreal injection. All images were acquired with a Toshiba Aplio 500 ultrasound system (Tokyo, Japan) including software with a combined autocorrelation method and a multifrequency linear probe. The elastography values of the anterior vitreous (AV), posterior vitreous (PV), retina-choroid-sclera complex (RCS), retrobulbar fat tissue (RF), optic nerve head (ONH) and retrobulbar optic nerve (RON) were measured in each eye. RESULTS: There were 13 male (50%) and 13 female (50%) participants in our study. Anterior vitreous, posterior vitreous, RCS, retrobulbar fat tissue, ONH, and RON US elastography values were similar in both groups (P˃0.05 for all). On the other hand, there was a positive correlation between the difference between baseline and 1-month PV sonoelastography values and age (r=0.47, P=0.035). CONCLUSION: A single dose intravitreal Ranibizumab (Lucentis®, Genentech, USA) injection does not alter the elasticity of ocular and periocular structures.

Tono-pen and Schiotz tonometer measurements in gas-filled eyes.

PURPOSE: This study aims to assess the difference between Tono-Pen and Schiotz tonometer measurements in gas-filled eyes and to create a nomogram and equation which can be used to estimate actual intraocular pressure in order to provide a safe IOP level at the end of the surgery. METHODS: Twenty-two eyes that underwent pars plana vitrectomy were included in the study. Perioperative Tono-Pen and Schiotz tonometer measurements were performed when the eyes were filled with air in the setting of certain vitrectomy infusion pressure levels. Measurements were performed when the eyes were filled with fluid to test the accuracy of the systems. The mean value of the Tono-Pen and Schiotz readings in air-filled eyes corresponding to certain actual intraocular pressure levels were analyzed to create nomograms. RESULTS: Both Tono-Pen and Schiotz tonometers underestimated the actual intraocular pressure set on the screen of the vitrectomy system in the air-filled eyes. The Tono-Pen deviation was 4.5mmHg at a level of 15mmHg actual intraocular pressure, and 16.9mmHg at a level of 55mmHg actual intraocular pressure. The Schiotz tonometer deviation was 10mmHg at a level of 15mmHg actual intraocular pressure, and 8.9mmHg at a level of 55mmHg actual intraocular pressure. All the mean differences between tonometer readings and actual intraocular pressure were statistically significant. (P<0.001) CONCLUSION: To achieve an adequate and safe tamponade at an actual IOP range of 20 - 25mmHg, one should adjust the IOP with Schiotz readings to a level of 9-12mmHg, or Tono-Pen readings to 12-18mmHg.

Quadruplet Pregnancy with Complete Mole and Three Viable Fetuses.

Background: The coexistence of a hydatidiform mole and a fetus can occur in a multiple pregnancy, being less frequent in triplets and quadruplets because of their infrequency. With assisted reproduction, multiple pregnancies are becoming more frequent, and we can expect more frequent coexistence with a molar pregnancy. Case report: This G3, P1 30-year-old mother, after assisted conception, was diagnosed with a quadruplet pregnancy, one of which was a molar conceptus. Due to the potential for malignancy, the pregnancy was electively terminated. Conclusion: Despite the difficulty in conceiving, elective termination of a multiple pregnancy associated with a molar pregnancy may be the most judicious course of action to protect the mother's life.

Fetal cloacal dysgenesis sequence presented with first trimester megacystis and associated umbilical cord abnormalities.

Cloacal dysgenesis sequence occurs as a result of complete developmental failure of the urorectal septum. Typically, the sequence is featured by a smooth perineum, without any urethral, genital or anal openings. Its clinical manifestation differs throughout gestation. We report an interesting case of first trimester megacystis with associated umbilical cord abnormalities in a female fetus having cloacal dysgenesis sequence. This rare association reflecting high urinary pressure should first suggest urethral atresia. Our case highlights the importance of routine inspection of umbilical cord in the workup of early megacystis in terms of both etiology and fetal diagnosis.

Schizencephaly accompanied by occipital encephalocele and deletion of chromosome 22q13.32: a case report.

Background: Schizencephaly is a neuronal migration anomaly characterized by presence of a cleft between ependymal layer of the ventricle and pia mater of the cerebral cortex. It may be associated with additional cerebral abnormalities, including polymicrogyria, pachygyria, gray matter heterotopy, ventriculomegaly and corpus callosum agenesis. Case Report: We present a female fetus with schizencephaly accompanied by occipital encephalocele, polymicrogyria, agenesis of the corpus callosum, dysmorphic facies and cardiac muscular ventricular septal defect. Array comparative genomic hybridization (array-cGH) analysis revealed a deletion of chromosome 22q13.32 including FAM19A5 gene that is a member of TAFA family. Conclusions: Schizencephaly may be accompanied by unexpected structural and genetic anomalies as in our case with occipital encephalocele, dysmorphic facies, cardiac ventricular septal defect and chromosome 22q13.32 deletion.

Can myometrial thickness/cervical length ratio predict preterm delivery in singleton pregnancies with threatened preterm labor? A prospective study.

OBJECTIVE: To investigate whether myometrial thickness (MT) to cervical length (CL) ratio could be used in the prediction of preterm birth (PTB) in singleton pregnancies presented with threatened preterm labor (TPL). METHODS: After 48 h of successful tocolysis, MT was measured transabdominally from the fundal, mid-anterior walls and the lower uterine segment (LUS) in 46 pregnancies presented with TPL. MT measurements were divided into CL, individually. The main outcome was PTB before 37 weeks of gestation. RESULTS: The patients were divided into two groups as women delivered ≥ 37 weeks (38.68 ± 1.01 weeks) (n = 25) and those delivered < 37 weeks (34.28 ± 2.53 weeks) (n = 21). The mean ± SD CL in the preterm delivery group was significantly shorter than the term delivery group (23.77 ± 9.23 vs 29.91 ± 7.03 mm, p < 0.05). Fundal, mid-anterior or LUS MT values were similar in both groups. However, in those who delivered preterm, the ratios of fundal MT-to-CL (p = 0.026) and mid-anterior MT-to-CL (p = 0.0085) were significantly different compared to those delivered at term. The optimal cutoff values for CL, fundal MT-to-CL and mid-anterior MT-to-CL ratios in predicting PTB were calculated as 31.1 mm, 0.19 and 0.20, respectively. Fundal MT-to-CL ratio predicted preterm delivery with 71% sensitivity, 72% specificity, 68% positive and 75% negative predictive values. For mid-anterior MT-to-CL ratio, respective values were 76, 76, 73 and 79%. CONCLUSION: Measurement of MT along with CL may offer a promising method in the management of women presented with TPL.

Unusual facio-upper arm band of a fetus mimicking amniotic band syndrome.

Amniotic band syndrome can lead to a wide spectrum of congenital abnormalities including orofacial and visceral defects. It is associated with malformations in truncal, craniofacial regions and the limbs, whereas it sometimes may imitate some genetic disorders. Here, we present an atypical case mimicking amniotic band syndrome with a facio-upper arm band that was having multiple fetal structural abnormalities including scoliosis, bilateral cleft lip and palate, upper limb abnormality, unilateral anophthalmia with contralateral microphthalmia, left hypertrophic kidney and severe ventriculomegaly.

Prenatal diagnosis of chromosomal polymorphisms: most commonly observed polymorphism on Chromosome 9 have associations with low PAPP-A values.

INTRODUCTION: To identify the prevalence and types of fetal chromosomal polymorphisms in pregnant women and to examine possible associations with screening test parameters. MATERIALS AND METHODS: Fetal chromosomal polymorphism rate was investigated in pregnant women who had been implemented for invasive prenatal test in a tertiary reference center in Thrace Region of Turkey. Fetal chromosomal polymorphisms were determined and their effects on screening tests' parameters were investigated. Possible differences in the first and second-trimester screening test parameters between women; with fetal chromosomal polymorphism who had screening test results (Group 1) and those with a normal karyotype (Group 2) were evaluated. RESULTS: Fetal chromosomal polymorphism prevalence was 5.3% (n = 101). The most common polymorphisms were identified on chromosome 9, 1, and 16 [54.5% (n = 55); 8.9% (n = 9), and 6.9% (n = 7), respectively]. The most common polymorphic variant was 9qh+ (n = 23; 22.8%). Among the screening test parameters, significantly lower pregnancy-associated plasma protein-A (PAPP-A) (p = .028) and higher unconjugated estriol (uE3) (p = .019) values were found in Group 1. In patients having fetuses with polymorphic variants on chromosome 9, a significantly lower PAPP-A values were observed compared to women with other fetal polymorphic variants (p = .048) or women having fetuses with normal karyotype (p = .007). CONCLUSIONS: Lower PAPP-A and higher uE3 levels were observed in women having fetuses with chromosomal polymorphisms, which might affect screening test results. Lower PAPP-A levels were apparent in women having fetuses with polymorphism on chromosome 9.

The relation of fetal colon and rectum diameters with labor in healthy late-third trimester pregnancies.

OBJECTIVE: To investigate the associations of fetal colon-rectum diameters with labor and fetal distress or meconium passage in healthy pregnancies in the late 3rd trimester. STUDY DESIGN: A total of 162 healthy, singleton pregnant women at ≥360/7 weeks who were in the latent-phase of labor (n = 69) or those not in labor (n = 93, controls) at the time of ultrasound examination were enrolled. Fetal colon (ascending, transverse, descending, sigmoid) and rectum diameters, Doppler indices of materno-fetal vessels were measured. Data were analyzed according to the mode of delivery. RESULTS: Fetal colon-rectum diameters were smaller in women in labor compared to controls (p = 0.001). Positive correlations were observed between fetal colon-rectum diameters and interval between ultrasound and labor onset in the control group except for those who had scheduled cesarean sections (C/S) (p = 0.001). Similar colon-rectum measurements were obtained in fetuses delivered via cesarean section due to fetal distress or to other indications (p > 0.05). In women who had uterine contractions during ultrasound examination; later delivered by vaginal route, no association was observed between Apgar scores and colon-rectum diameters during latent-phase (p > 0.05), and also there were significant positive correlations between different segments of colon-rectum diameters and duration of neonatal meconium passage (p < 0.05). CONCLUSION: Fetal colon and rectum diameters are smaller during labor and the measurements tend to diminish as the labor approaches, but do not indicate fetal distress.

Effects of betamethasone on fetoplacental and maternal hemodynamics in preterm pregnancies.

OBJECTIVE: To evaluate the possible effects of prenatal steroid administration on Doppler parameters of the umbilical artery, uterine artery, middle cerebral artery, and ductus venosus, the cerebroplacental ratio, and the amniotic fluid index in preterm fetuses. METHODS: The present prospective observational study was performed at the Perinatology Department of Trakya University, Edirne, Turkey, between June 1, 2015, and September 1, 2016. It included patients with healthy singleton pregnancies who had received betamethasone at 24-34 weeks of pregnancy. Doppler parameters were measured before (0 hours) and 24, 48, and 72 hours after the administration of betamethasone (two intramuscular doses of 12 mg each, administered 24 hours apart). RESULTS: There were 68 patients included. Pairwise comparisons demonstrated that, at 72 hours after betamethasone administration, the umbilical artery resistance index (P=0.038), the middle cerebral artery systolic/diastolic velocity ratio (P=0.007), and the amniotic fluid index (P=0.017) were reduced, whereas the end-diastolic velocity of the middle cerebral artery was increased (P=0.012), compared with baseline values. CONCLUSION: Betamethasone had favorable effects on fetal cerebral circulation, with increased end-diastolic velocity in the middle cerebral artery; this could represent a positive effect on cerebral blood circulation and decreased flow resistance in the umbilical artery.

Is there A Relationship between route of delivery, perinatal characteristics, and neonatal outcome in preterm birth?

BACKGROUND: Preterm birth is one of the most challenging problems in obstetric care and it is closely related to perinatal mortality and morbidity. The aim of the current study was to document our experience with preterm births and to analyze the association between perinatal variables and clinical outcomes. METHODOLOGY: In this retrospective study, data were derived from the medical records of 785 singleton preterm births delivered in the obstetrics and gynecology department of our institution. Variables under investigation were maternal and gestational ages, fetal gender, route of delivery (vaginal vs. cesarean section [C/S]), causes of preterm birth, birth weight, placental weight, umbilical cord length, and Apgar scores at the 1st and 5th min. RESULTS: Pregnant women with advanced age (≥35 years) were more likely to undergo C/S (P < 0.001). Apgar score at the 1st and 5th min was influenced significantly by gestational age (P < 0.001), newborn birth weight (P < 0.001), placental weight (P < 0.001), and umbilical cord length (P < 0.001). Infants delivered due to antepartum fetal distress indication had remarkably lower Apgar scores at the 1st min and the birth weight seemed to be positively correlated with Apgar scores at both 1st (P < 0.001) and 5th min (P < 0.001). Apgar scores both at the 1st and 5th min were positively correlated with placental weight (R: 0.239 and 0.231, respectively, and P < 0.001 for both) and length of umbilical cord (R:0.228 and 0.211, respectively, and P < 0.001 for both). CONCLUSION: Advanced age pregnancies have higher C/S rates, but Apgar scores are significantly correlated with infant characteristics. Umbilical cord length and placental weight might be the new add-on predictors of postpartum well-being in premature infants.

Maternal and fetal outcomes in pregnancies with pulmonary hypertension: Experience of a tertiary center.

OBJECTIVE: Pregnancies complicated with PHT are serious debates for obstetricians due to high maternal and fetal complication potentials. The aim of the study was to present our maternofetal outcomes in pregnant women with pulmonary hypertension. MATERIALS AND METHODS: This study was performed using data extracted from the medical files of 23 pregnancies of 18 patients with PHT who were followed-up in the obstetrics and gynecology department. RESULTS: The average age was 27.09 ± 6.97 (range: 14-38) years. The most frequent maternal cardiac pathologies were cardiac valvular disease (mitral or aortic insufficiency) (n = 4), atrial septal defect (n = 3), mitral stenosis (n = 3), ventricular septal defect (n = 2) and arrhythmia (n = 2). Caesarean section and normal vaginal delivery were performed in 13 and 7 deliveries, respectively. Therapeutic dilatation and curettage was performed in 3 patients. Preterm delivery occurred in 4 pregnancies and there were 2 intrauterine growth retardations, 1 preeclampsia and 2 maternal pulmonary edemas. One patient underwent re-laparotomy 5 days after delivery due to uterine hematoma. Totally, 20 newborns (14 female, 6 male) were delivered. Most of the complications were seen in advanced PHT classes. CONCLUSION: The care of the pregnant women with PHT necessitates a well-planned, multidisciplinary approach focusing on close monitoring before, during and after delivery. This approach may contribute to reduction of poor maternal and fetal outcomes.

Relationship between second-trimester amniotic fluid levels of Prokineticin-1 and Matrix Metalloproteinase-2 with adverse pregnancy outcome.

To investigate the levels of Prokineticin-1 (PROK1) and matrix metalloproteinase-2 (MMP-2) in second-trimester amniotic fluid (AF). AF samples were investigated in 81 patients. AF-PROK1 and AF-MMP-2 were not significantly associated with adverse pregnancy outcomes (preeclampsia, intrauterine growth retardation, spontaneous preterm birth, gestational diabetes, gestational hypertension). AF-PROK1 levels in patients with abnormal first-trimester screening were significantly higher than those who underwent amniocentesis due to abnormal second-trimester screening tests (p = .04). AF-PROK1 or AF-MMP-2 do not have a role in the prediction of adverse pregnancy outcomes.

Peripapillary retina nerve fiber layer thickness and macular ganglion cell layer thickness in patients with obstructive sleep apnea syndrome.

PurposeTo investigate the association of the severity of obstructive sleep apnea syndrome (OSAS) with peripapillary retinal nerve fiber layer (RNFL) and macular ganglion cell-inner plexiform layer (GC-IPL).Materials and methodsIn this cross-sectional study, 145 patients with OSAS and 40 healthy subjects were enrolled. OSAS patients were further divided into mild (n=50), moderate (n=36), and severe (n=59) OSAS groups according to their apnea-hypopnea index (AHI) values. Spectral-domain optical coherence tomography was used to measure the peripapillary RNFL and GC-IPL thicknesses.ResultsThere was no statistical difference between the RNFL thickness in OSAS and control groups (P>0.05). Both average GC-IPL and minimum GC-IPL thicknesses were significantly lower in severe OSAS group than in healthy controls (P<0.05 for both). There was a significant negative correlation between AHI and both average GC-IPL (r=-0.232, P=0.005) and minimum GC-IPL (r=-0.233, P=0.005) thicknesses.ConclusionsOur study results suggest that although RNFL thickness did not differ significantly between OSAS and control groups, ganglion cell layer thickness in OSAS patients is much lower than in healthy population. Ganglion cell thickness showed a significant correlation with the severity of OSAS.

Use of prokineticin-1 (PROK1), pregnancy-associated plasma protein A (PAPP-A) and PROK1/PAPP-A ratio to predict adverse pregnancy outcomes in the first trimester: a prospective study.

INTRODUCTION: To compare the predictive effectiveness levels of prokineticin-1 (PROK1), pregnancy-associated plasma protein A (PAPP-A) and the PROK1/PAPP-A ratio in the first trimester for preeclampsia (PE), foetal growth restriction (FGR), gestational diabetes mellitus (GDM) and spontaneous preterm birth (SPB). MATERIALS AND METHODS: A total of randomly selected 162 pregnant women were included. Peripheral blood samples were obtained between 110/7 and 136/7 gestational weeks (GWs). All women were followed throughout the pregnancy and classified into five groups as having PE, FGR, GDM, SPB and uncomplicated pregnancies. The cut-off levels of the markers were identified to predict adverse outcomes. RESULTS: PROK1 predicted PE with 83.3% sensitivity, 85.7% specificity at a value of >293.4 pg/mL; at a value of >260.2 pg/mL, PROK1 predicted FGR with 85.7% sensitivity, 72.5% specificity in the first trimester. The area under receiver operating characteristic (ROC) curve of PAPP-A was lower than that of PROK1 and PROK1/PAPP-A in differentiating PE and FGR from the uncomplicated group (p < .001). PROK1 levels and the PROK1/PAPP-A ratios in the SPB and GDM groups were lower than in the uncomplicated group (p < .01). CONCLUSIONS: Elevated PROK1 in the first trimester is a more effective marker than PAPP-A in the prediction of PE and FGR. Lower PROK1 levels are associated with the development of SPB and GDM.

Nifedipine maintenance tocolysis and perinatal outcome: an individual participant data meta-analysis.

BACKGROUND: Preterm birth is the leading cause of neonatal mortality and morbidity in developed countries. Whether continued tocolysis after 48 hours of rescue tocolysis improves neonatal outcome is unproven. OBJECTIVES: To evaluate the effectiveness of maintenance tocolytic therapy with oral nifedipine on the reduction of adverse neonatal outcomes and the prolongation of pregnancy by performing an individual patient data meta-analysis (IPDMA). SEARCH STRATEGY: We searched PubMed, Embase, and Cochrane databases for randomised controlled trials of maintenance tocolysis therapy with nifedipine in preterm labour. SELECTION CRITERIA: We selected trials including pregnant women between 24 and 36(6/7)  weeks of gestation (gestational age, GA) with imminent preterm labour who had not delivered after 48 hours of initial tocolysis, and compared maintenance nifedipine tocolysis with placebo/no treatment. DATA COLLECTION AND ANALYSIS: The primary outcome was perinatal mortality. Secondary outcome measures were intraventricular haemorrhage (IVH), necrotising enterocolitis (NEC), infant respiratory distress syndrome (IRDS), prolongation of pregnancy, GA at delivery, birthweight, neonatal intensive care unit admission, and number of days on ventilation support. Pre-specified subgroup analyses were performed. MAIN RESULTS: Six randomised controlled trials were included in this IPDMA, encompassing data from 787 patients (n = 390 for nifedipine; n = 397 for placebo/no treatment). There was no difference between the groups for the incidence of perinatal death (risk ratio, RR 1.36; 95% confidence interval, 95% CI 0.35-5.33), intraventricular haemorrhage (IVH) ≥ grade II (RR 0.65; 95% CI 0.16-2.67), necrotising enterocolitis (NEC) (RR 1.15; 95% CI 0.50-2.65), infant respiratory distress syndrome (IRDS) (RR 0.98; 95% CI 0.51-1.85), and prolongation of pregnancy (hazard ratio, HR 0.74; 95% CI 0.55-1.01). CONCLUSION: Maintenance tocolysis is not associated with improved perinatal outcome and is therefore not recommended for routine practice. TWEETABLE ABSTRACT: Nifedipine maintenance tocolysis is not associated with improved perinatal outcome or pregnancy prolongation.

Tetrasomy 18p in a Twin Pregnancy with Diverse Expression in Both Fetuses.

Tetrasomy 18p, characterized by the presence of four copies of the short arm of chromosome 18, is considered to occur with the nondisjunction in meiosis II after the errors in the meiotic and early postmeiotic mitotic division in the centromere. It is accompanied by various abnormalities including congenital heart defects, lower extremity abnormalities, micrognathia, high arched palate, kyphoscoliosis, microcephaly, myelomeningocele, hernia and renal anomalies. We present the first case of a dichorionic diamniotic twin pregnancy in which both fetuses were affected by tetrasomy 18p, but with discordant morphology, detected in one twin in the first but in the other in the second trimester.

Which tonometry in eyes with keratoconus?

AIMS: To compare intraocular pressure (IOP) measurements obtained with Goldmann applanation tonometery (GAT), dynamic contour tonometry (DCT), tonopen (TP), and ocular response analyzer (ORA), and to determine the influence of Amsler grade and central corneal thickness (CCT) on the IOP readings in eyes with keratoconus that are classified into four groups according to the Amsler-Krumeich classification. METHODS: All eyes with keratoconus were separated into four groups using Amsler-Krumeich classification for keratoconus. IOP was measured in 202 eyes of 202 patients with keratoconus using GAT, DCT, TP, and ORA. RESULTS: The IOP differences revealed no significant difference among the Amsler degree in the DCT and corneal-compensated IOP (IOPcc) measurements (P>0.05 for all). There was no statistically significant difference in terms of IOP differences between GAT and IOPcc (P>0.05), TP and Goldmann-correlated measure of IOP (IOPg; P>0.05) in the Amsler I, while the IOP measurements revealed significant difference among the measurements of the four different tonometers in the Amsler II, Amsler III, and Amsler IV (P<0.05 for all). CONCLUSIONS: There was no significant association between DCT IOP or IOPcc and CCT in eyes with keratoconus; no statistically significant difference was found between keratoconus stages and the control group in terms of the IOP analyzed with these two techniques. These two techniques may be the most stable in the measurement of IOP in different keratoconus stages. However, no IOP technique can be used interchangeably with other techniques in the follow-up of keratoconus patients.