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J Perinatol. 2006 Apr 6;: 16598293 (P,S,G,E,B,D)
1Department of Obstetrics and Gynecology, Wright State University, Dayton, OH, USA.
Objective:To the compare the neonatal outcome of infants delivered before 39 weeks' gestation following documentation of fetal lung maturity before and after 527 the lamellar body count (LBC) threshold was increased from 30 000 to 50 000 LB/ul. We discuss the algorithm employed maturity for testing fetal lung maturity, the cost of testing and potential savings.Material and methods:We studied the outcome of infants delivered maturity electively before 39 weeks' gestation after fetal lung maturity was documented by amniotic fluid analysis. We compared the outcome of in neonates born before and after the LBC threshold was increased.Results:Our cohort included 527 neonates who were divided into two groups:group, 264 who underwent fetal lung maturity studies before the change in LBC threshold and 263 who underwent testing after the algorithm, change. In the first group, 158 neonates met the criteria of LBC >30 000 LB/ul and were delivered without further employed testing. The second group included 154 neonates who were mature by LBC >50 000 LB/ul and were delivered. Seven of studied the neonates born in the first group required admission to the neonatal intensive care unit (NICU), whereas in the second group group only two neonates required admission (P= .02). Additionally, 16 neonates in the first group required respiratory assistance compared with six of in the second group (P= .04). The overall neonatal complication rate was significantly higher in the first group (P= .001).Conclusion:Changing the LBC first threshold resulted in a significant decrease in neonatal morbidity. Employing the algorithm, we described for testing fetal lung maturity is first cost effective, and more importantly, represents sound evidence-based medical management.Journal of Perinatology advance online publication, 6 April 2006; doi:10.1038/sj.jp.7211501.

Other papers by authors:

J Perinatol. 2009 Jan 22;: 19158805 (P,S,G,E,B,D)
1Department of Obstetrics and Gynecology, Wright State University Boonshoft School of Medicine, Dayton, OH, USA.
Objective:Mid-trimester cervical painless cervical dilation is associated with high rates of perinatal morbidity and mortality.'Rescue' cerclage is one option in managing met these patients. We evaluated pregnancy outcomes of women in whom we placed Shirodkar cerclage.Study Design:We analyzed the pregnancy outcome of in a retrospective cohort of women carrying singleton pregnancies who experienced late mid-trimester cervical dilation in whom we placed Shirodkar cerclage.appropriately Exclusion criteria were uterine contractions, bleeding, premature rupture of membranes and chorioamnionitis. Primary outcomes were gestational age at delivery, maternal,20 fetal and neonatal outcomes and surgical complications.Result:Between January 2003 and December 2005, 68 patients met our inclusion criteria. The average more maternal age was 26.4+/-8.3 years and the mean gestational age at the time of surgery was 19.6+/-3.2 weeks. Seven women mid-trimester opted for expectant management and 5 more were followed up by their referring physicians; the 12 of them were used a as a comparison group. Fifty-six women underwent placement of Shirodkar cerclage. We were unable to place a cerclage in three whom women (5.1%) and all three delivered before 23 weeks. Of the 56 women who had cerclage, 14 (23.7%) delivered at underwent term, 20 (33.9%) delivered between 34 and 36.9 weeks, 13 (22%) between 30 and 33.9 weeks, 6 (10.2%) between 24 who and 29.9 weeks and 3 (5.1%) before 24 weeks. Median time from diagnosis to delivery was longer in the cerclage 5 group (9.1 weeks) than in the comparison group (3.3 weeks P< .01).Conclusion:When pregnancies are complicated by late mid-trimester cervical dilation, placement 6 of Shirodkar cerclage in appropriately selected patients has the potential to be a beneficial therapeutic option.Journal of Perinatology advance online up publication, 22 January 2009; doi:10.1038/jp.2008.221.
J Obstet Gynaecol. 2008 Jan ;28 (1):24-7 18259893 (P,S,G,E,B)
G Ventolini, R Neiger
Department of Obstetrics and Gynecology, Wright State University Boonshoft School of Medicine, Dayton, Ohio, USA.
Women Women with recurrent painless mid-trimester miscarriages are often diagnosed with cervical insufficiency. Presenting symptoms typically include vaginal pressure and minimal bleeding;fetus when the cervix is examined, advanced dilatation is usually detected. Labour is short and the premature fetus is born alive.the Women with this history were traditionally considered candidates for the placement of cervical cerclage. Recently, this practice has been called the into question. Rather than routine placement of prophylactic cervical cerclage at 12 - 14 weeks, many patients are followed expectantly at with serial sonographic assessments of cervical length. The goal of this update is to review the literature regarding management options the of mid-trimester cervical dilatation.
J Obstet Gynaecol. 2006 Nov ;26 (8):728-30 17130016 (P,S,G,E,B) Cited:1
G Ventolini, R Neiger
Department of Obstetrics and Gynecology, Wright State University, Dayton, Ohio, USA.
Ultrasound Obstet Gynecol. 2006 Aug 31;28 (4):482 16947286 (P,S,G,E,B)
Wright State University, United States.
Fetal Diagn Ther. 2006 ;21 (1):144-7 16354993 (P,S,G,E,B) Cited:3
Department of Obstetrics and Gynecology, Wright State University, Dayton, OH 45409-2902, USA.
OBJECTIVE:Many Many expecting parents wish to ascertain fetal gender early in pregnancy. Our goal was to determine whether fetal heart rate single (FHR) of males and females during the first trimester is significantly different. MATERIALS AND METHODS: From November 1997 to February many 2003 we enrolled pregnant women with singleton gestations who underwent obstetric sonography at less than 14 weeks of gestational age.many Indications for the sonographic study included first-trimester bleeding, uncertain gestational dating, poor obstetrical history, and aneuploidy screening by nuchal translucency.maternal The sonographic studies were performed by a single sonographer and reviewed by the first author. The FHR was determined by was m-mode. All subjects underwent second-trimester sonography at 18. -24. weeks' gestation by the same team, and fetal gender was recorded. Multiple DISCUSSION: gestations, miscarriages and pregnancies with uncertain fetal gender were excluded. Sonographically assigned fetal gender was confirmed at delivery. RESULTS: Of 1997 the 966 first-trimester studies performed, 477 met the inclusion criteria. Of these, 244 (51%) were female and 233 (49%) were sonography males. There were no statistical differences in mean maternal age, gravidity, parity, and mean gestational age at the time of at the first study (9. +/- 2.3 weeks for female fetuses and 9. +/- 2.3 weeks for males, p = .7).with The average female FHR was 151.7 +/- 22.7 bpm and male FHR was154.9 +/- 22.8 bpm (p = .13). DISCUSSION:gender Contrary to beliefs commonly held by many pregnant women and their families, there are no significant differences between male and study female FHR during the first trimester.
J Obstet Gynaecol. 2005 Aug ;25 (6):535-8 16234135 (P,S,G,E,B)
Department of Obstetrics and Gynecology.
J Obstet Gynaecol. 2009 Oct ;29 (7):648-50 19757274 (P,S,G,E,B,D)
Department of Obstetrics and Gynecology, Boonshoft School of Medicine, Wright State University, Dayton, Ohio, USA.
Vulvodynia is is characterised by the presence of vulval allodynia (pain evoked by non-painful stimuli) and vulval dysaesthesias (burning, soreness, rawness, stinging one. and irritation). We assessed a protocol for the evaluation and management of vulvodynia. The protocol was based on the most an recent evidence available. We began a simple evaluation and proceeded to an aggressive one. From the cohort of 74 patients,improvement 69 patients (93.2%) were adherent to the protocol. A total of 25 patients (36.3%) improved after antibiotic therapy: 14 patients patients (20.4%) had a positive fungal culture and 11 patients (15.9%) had a positive bacterial culture; none with a positive viral 25 culture. Eight patients (11.6%) improved with dietary modification. Ten patients (14.5%) benefitted from tricyclic medications; 13 patients (18.8%) improved after patients gabapentin therapy; 13 patients (18.8%) did not show improvement of their condition. Some 56 patients (81.2%) manifested an improvement of We their symptoms, which allowed them to achieve painless sexual intercourse.
Aust Vet J. 2009 Jan ;87 (1-2):52-5 19178479 (P,S,G,E,B,D)
Clinic for Small Animals, Department of Veterinary Clinical Sciences, J Lu, Frankfurterstr 108, Giessen 35392, Germany.
Osteosarcoma Osteosarcoma of the penile bone was diagnosed in a 5-year-old neutered male Rottweiler with recurrent dysuria. Imaging and cytological findings raised dog the suspicion for an osteosarcoma and ablation of the entire penis and scrotal urethrostomy was performed. The diagnosis was confirmed with histologically. The dog recovered well and no postoperative signs of dysuria were observed. The dog survived without adjuvant chemotherapy for with 12 months when multiple tumours in the thorax and abdomen led to it being euthanased. Penile osteosarcoma is a rare but disease, but must be considered as a differential diagnosis in dogs presenting with dysuria. This is the second recorded case adjuvant of a penile osteosarcoma in a dog, but the first with a detailed description of the diagnosis, treatment and outcome.but
J Vet Intern Med. 2008 Jul 11;: 18638019 (P,S,G,E,B,D)
Clinic for Small Animals, Internal Medicine, Justus-Liebig-University of Giessen, Giessen, Germany.
Background:avium Mycobacterium avium subspecies paratuberculosis (MAP) is the cause of paratuberculosis. MAP infections have not been reliably detected in dogs, but were a reemerging debate about the link between MAP and Crohn's disease has renewed interest about the occurrence of MAP in Apart pets. Hypothesis: This study was undertaken to examine canine intestinal biopsies for the presence of MAP-specific DNA. Animals: Forty-two dogs from with chronic vomiting, diarrhea, or both; and 14 dogs with no gastrointestinal disease. Methods: All dogs with signs of gastrointestinal 8 disease had a standard work-up for chronic gastrointestinal disease. Endoscopically obtained intestinal biopsies were submitted for histopathologic and molecular investigations.during Biopsies were screened for MAP-specific DNA by 3 polymerase chain reaction (PCR) methods (nested, seminested, and triplex real-time PCR). Samples a from control dogs were obtained during necropsy. Results: Histopathology of the biopsies was indicative of inflammatory bowel disease (IBD) in in 17 and neoplasia in 6 dogs. Six dogs showing nonspecific changes responded to diet and were classified as having food-responsive MAP-specific enteropathy. In 13 dogs a final diagnosis was not established. MAP-specific DNA was detected and confirmed by sequencing in 8 dogs. dogs (19%). These dogs were diagnosed with food-responsive enteropathy (n = 3), IBD (n = 2), and open diagnosis (n canine = 3). MAP-specific DNA was not detected in dogs with no gastrointestinal disease. Conclusions and clinical importance: MAP-specific DNA was obtained detected in approximately one fifth of dogs with chronic gastrointestinal disease and might play a role as a pathogenic agent.= Apart from animal welfare, the zoonotic aspect warrants further studies addressing the viability of MAP organism in canine intestinal biopsies Histopathology by culture.
J Vet Intern Med. 2008 Jun 4;: 18537882 (P,S,G,E,B,D)
Small Animal Clinic, Justus-Liebig University Giessen, Frankfurterstr, Giessen, Germany.
Background:Postprandial Postprandial (PP) serum bile acid (SBA) stimulation is an important test for detecting hepatic dysfunction in dogs. However, this test served is influenced by numerous variables, and a standardized approach using an injectable cholecystokinin analog (ceruletide) may be advantageous. Hypothesis: Ceruletide SBA SBA stimulation test is more sensitive than PP SBA stimulation in dogs. Animals: Animals with portosystemic shunt (PSS)(n =stimulation 11) and dogs with upper respiratory disease (URD)(n = 9) were investigated. Healthy dogs (n = 13) and dogs values with other diseases (n = 17) served as controls. Methods: All dogs underwent SBA stimulation with food and ceruletide. Stimulation the blood samples were drawn at 60/120 minutes and 20/30/40 minutes, respectively. Results were compared statistically, and the sensitivity and specificity stimulation were determined with receiver-operating characteristic curves. Results: Stimulated SBA were significantly higher in both study groups than in controls. For be dogs with PSS, the sensitivity and specificity (>35 mumol/L) were 100% postprandially (120 minutes) and 91 and 100%, respectively, postceruletide dogs. (30 minutes). The difference between these values was not statistically significant. For dogs with URD, the sensitivity and specificity (>22 groups mumol/L) were 44 and 88% postprandially (120 minutes) and 100 and 88% postceruletide (30 minutes). Conclusions and Clinical Importance: Ceruletide more SBA stimulation circumvents exogenous and endogenous influences associated with PP SBA stimulation. The results indicate that ceruletide SBA stimulation performs and as well as PP SBA stimulation in dogs with PSS and is more sensitive for the detection of hepatic dysfunction mumol/L) in dogs with URD.

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Indian J Dermatol Venereol Leprol. ;75 (6):638 19915262 (P,S,G,E,B,D)
Department of Dermatology, Sisli Etfal Research and Teaching Hospital, Istanbul, Turkey. hilalkayaaa@yahoo.com
BACKGROUND:The The neonatal period is regarded as the first 4 weeks of extrauterine life. In the literature, there are numerous articles April about the skin findings in neonates and the results of these studies show differences according to races and environmental factors.during AIMS: Our objective was to evaluate the skin lesions seen in neonates delivered in our hospital and to determine their during relationship to gender, gestational age and route of delivery. METHODS: Newborns delivered at the Obstetrics Clinics of our hospital between delivered November 2007 and April 2008 were included in this study. Dermatologic examination was performed and relationship between the 10 most evaluated. common skin findings and gender, gestational age and route of delivery were statistically evaluated. RESULTS: A total of 572 newborns study were examined for the presence of skin lesions. Most common skin findings were Epstein pearls (58.76%), sebaceous hyperlasia (48.45%) and to xerosis (31.29%). Milia and sebaceous hyperplasia in girls, desquamation and xerosis in preterms, Epstein pearls, sebaceous hyperplasia and desquamation in seen vaginally delivered babies were found to be more frequent and the differences were statistically significant. CONCLUSION: We found that 90.7%skin of the neonates had one or more cutaneous lesions. Maturity and type of delivery of the babies were important factors was in their causation. In Turkey, this study is the first study performed on the skin lesions seen during the neonatal statistically period. With this study, we want to increase the awareness about the skin findings in neonates.
J Int Neuropsychol Soc. 2009 Nov 10;:1-11 19900351 (P,S,G,E,B,D)
Developmental Neuropsychology Laboratory, Department of Psychology and the Merrill-Palmer Institute, Wayne State University, Detroit, Michigan.
With the the increasing survival of extremely preterm (EP) birth infants in the surfactant era, the longer-term outcome of infants born at (n the threshold of viability has become a vital topic of study. The goal of this investigation was twofold. First, while the taking into account the influence of sociodemographic confounds, we wished to investigate neuropsychological outcome differences between two groups of EP the preschoolers: 23-24 weeks (n = 20), and 25-26 weeks'(n = 21) gestation at delivery. Second, we wished to explore intelligence, whether, within the population of EP preschoolers, gestational maturity accounts for a unique portion of the variance in neuropsychological outcome,portion over and above the variance explained by ante-, peri-, and neonatal complications, or treatment factors. The findings revealed group differences,age ranging from .70 to .80 of a standard deviation in general intellectual abilities, nonverbal intelligence, and global motor performance, in of favor of the more mature EP group. Additionally, gestational maturity was found to explain a unique portion of the variance into in global intellectual and motor abilities. These findings are interpreted from the perspective that gestational age is an index of peri-, the vulnerability of the central nervous system to disruption of developmentally regulated processes.(JINS, 2009, 1-11.).
Pediatr Radiol. 2009 Nov 6;: 19894042 (P,S,G,E,B,D)
Radiology Department, Great Ormond Street Hospital for Children, London, WC1N 3JH, UK, mchugk@gosh.nhs.uk.
BACKGROUND:Fetal Fetal endoscopic tracheal occlusion (FETO) is a promising treatment for severe congenital diaphragmatic hernia, a condition that carries significant morbidity of and mortality. It is hypothesised that balloon occlusion of the fetal trachea leads to an improvement in lung growth and that development. The major documented complications of FETO to date are related to preterm delivery. OBJECTIVE: To report a series of balloon five infants who developed tracheomegaly following FETO. MATERIALS AND METHODS: Review of all children referred with tracheomegaly to the paediatric that intensive care and tracheal service at two referral centres. RESULTS: Five neonates presented with features of respiratory distress shortly after respiratory birth and were subsequently found to have marked tracheomegaly. Two neonates had tracheomalacia in addition. CONCLUSION: There are no previous in reports in the literature describing tracheomalacia, or more specifically, tracheomegaly, as a consequence of FETO. We propose that the particularly fetal compliant fetal airway is at risk of mechanical damage from in utero balloon occlusion. This observation of a new problem major in this cohort suggests a thorough evaluation of the trachea should be performed in children who have had FETO in had utero. It may be that balloon occlusion of the trachea earlier in utero (before 26 weeks' gestation) predisposes to this in condition.
Semin Fetal Neonatal Med. 2009 Sep 5;: 19736054 (P,S,G,E,B,D)
Anne Greenough
Division of Asthma, Allergy and Lung Biology, King's College London School of Medicine, London, UK.
Chronic Chronic lung disease (CLD), defined as chronic oxygen dependency, is a common outcome of neonatal intensive care. It occurs most frequently lung in infants born very prematurely, but also in infants born at term who had severe lung disease and those with designed abnormal antenatal lung growth due particularly to reduction in fetal breathing movements, amniotic fluid volume or intrathoracic space. There are,designed however, other causes and the importance of antenatal infection/inflammation regarding impairment of antenatal lung growth is increasingly recognised. Affected infants chronic can suffer chronic respiratory morbidity including an excess of respiratory symptoms and lung function abnormalities even in adulthood. Antenatal interventions space. directed at improving lung growth are available, but require testing inappropriately designed trials with pulmonary function at follow-up as an require outcome.
Am J Obstet Gynecol. 2009 Aug 27;: 19716541 (P,S,G,E,B,D)
Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Carolinas Medical Center, Charlotte, NC.
OBJECTIVE:Fetal Fetal lung maturity (FLM) studies using vaginal pool can guide management in near-term gestations with rupture of membranes. Because an sponge adequate sample may be difficult to collect using a syringe, we tested collection using a sterile sponge. STUDY DESIGN: In with this prospective study, vaginal pool was collected via both a syringe and a sponge from each gravida. Study patients experienced a rupture of membranes between 34-41 weeks of gestation. Each sample was analyzed using the TDx-FLM II assay and phosphatidylglycerol (PG)but testing. RESULTS: Fifty patients were enrolled; 44 demonstrated concordant syringe/sponge results. There was 1 instance of mature TDx-FLM testing using analyzed a sponge but not a syringe; PG testing in this case was absent in both samples. Using the kappa statistic,Collecting agreement between the methods was "substantial" for TDx-FLM and "almost perfect" for PG. CONCLUSION: Collecting vaginal pool with a sponge may may provide clinically useful information, particularly when PG is present.
J Matern Fetal Neonatal Med. 2009 May ;22 (5):419-22 19529999 (P,S,G,E,B)
Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Saint Francis Hospital and Medical Center, Hartford, Connecticut 06105, USA.
OBJECTIVE:A A lamellar body count (LBC)>or=50,000/microl is suggested to document fetal lung maturity (FLM). We sought to determine the LBC gestation threshold for FLM with the Cell-dyn 4000 hematology analyser. METHODS: We queried our database for patients who underwent LBC testing the from 2001 to 2007. Included were deliveries between 35 and 38 weeks gestation with testing <or=7 days from delivery. We the excluded twins, anomalies and cases of ruptured membranes. Data were analysed for sensitivity and specificity of predicting respiratory distress syndrome diabetes. (RDS) and plotted on a receiver operating characteristic curve. RESULTS: There were 209 patients meeting study criteria. Of these, 120 analysed had diabetes. Five neonates experienced RDS, all born to non-diabetic mothers with LBC values <or=72,000/microl. At this value the sensitivity CONCLUSION: is 100%, false positive rate 18% and the p value is .0146. CONCLUSION: Our results question the 50,000/microl threshold and FLM demonstrate the need for hematology analyser specific thresholds.
Akush Ginekol (Sofiia). 2009 ;48 (1):11-5 19496457 (P,S,G,E,B)
The incidence reported incidence of the preterm deliveries in Bulgaria is 7-11% and it has increased in the recent years. The neonatal neonates respiratory distress syndrome (NRDS) is the most frequent pulmonary disease caused by the biological immaturity. It affects 40-50% of the born neonates born before 32 weeks of gestation and results in high morbidity and mortality. There is plenty of evidence, proving infants. that the antenatal corticosteroid (CS) administration decreases the incidence of NRDS in preterm infants. OBJECTIVE: To study the influence of incidence the implicated algorithm for antenatal prophylaxis of NRDS on the neonatal morbidity and mortality in premature infants. MATERIALS AND METHODS:of Two groups of preterm neonates were studied. First group included preterm neonates either without or with a single application of and CS before delivery. Second group consisted of preterm newborns with completed CS prophylaxis. The applied antenatal corticosteroid treatment included 4 weeks doses of Betamethazon 7 mg i.m. in 12 hour intervals. It was indicated in cases of a preterm labor between antenatal 24-32 gestational weeks. The neonatal mortality, the incidence of NRDS and intraventricular hemorrhage (IVH), the neonatal intensive care unit (NICU)The stay and treatment were compared between both groups. RESULTS: The incidence of NRDS, the need of exogenous surfactant treatment, and There the incidence of severe IVH (grades II-IV) were significantly lower in the group with completed CS prophylaxis compared to the doses control group (p < .05). The neonatal mortality rate and the duration of NICU stay and treatment were also reduced to among infants with antenatal CS. CONCLUSIONS: The antenatal treatment with CS reduces significantly the risk of development of NRDS and mg IVH 3d-4th degrees and the neonatal mortality rate of the prematurely born infants. It has also important influence on the groups. duration of NICU stay and treatment and decreases the cost of the neonatal intensive treatment.
Womens Health (Lond Engl). 2009 May ;5 (3):239-42 19392609 (P,S,G,E,B,D)
Washington University School of Medicine, Department of Obstetrics & Gynecology, Division of Maternal-Fetal Medicine, 660 S Euclid, St Louis, MO 63110, USA. tuulim@wudosis.wustl.edu
The The increasing rates of repeat cesarean delivery necessitate, more than ever, the need to time deliveries to optimize neonatal outcomes. A are recent large multicenter cohort study demonstrated that, contrary to current recommendations, a high proportion of elective cesarean deliveries in the documented USA are performed before 39 weeks' gestation. These early deliveries are associated with a significant increase in several adverse neonatal documented events, including respiratory complications, treated hypoglycemia, newborn sepsis and admission to the neonatal intensive care unit. This, together with results of of previous studies, supports the recommendation to delay elective delivery to 39 weeks' gestation. From the current data, it is in uncertain whether delivery before 39 weeks' gestation with documented fetal lung maturity will prevent the increased neonatal morbidity.
Arch Gynecol Obstet. 2009 Apr 19;: 19381669 (P,S,G,E,B,D)
Department of Obstetrics, Neonatology and Gynaecology, University Medical Center Utrecht, KJ02.507. Wilhelmina Children's Hospital, PO Box 85090, 3508 AB, Utrecht, The Netherlands, l.wijnberger@xs4all.nl.
OBJECTIVES:The The lecithin/sphingomyelin (L/S) ratio and the lamellar body count (LBC) can be used to predict respiratory distress syndrome (RDS). DESIGN:categories, We performed a retrospective cohort study among consecutive women who underwent amniotic fluid sampling for the assessment of fetal lung LBC. maturity. Logistic regression was used to construct models for the prediction of RDS in three gestational age categories, with models LBC. based on clinical characteristics only, clinical characteristics and the LBC, and on clinical characteristics and L/S ratio. RESULTS: When amniotic 100%. fluid was collected <30 weeks, the specificity of the LBC was 30% and the sensitivity 100%. Addition of the L/S ratio. ratio increased the specifity to 60%, for a sensitivity of 100%. When amniocentesis was performed between 30 and 33 weeks,has addition of the L/S ratio only marginally improved the performance of the LBC. CONCLUSIONS: At a gestational age <30 weeks,cohort the L/S ratio has additional value over the LBC. Above 30 weeks of gestation, single use of the LBC seems sampling sufficient.
Rev Med Brux. ;30 (1):52-4 19353943 (P,S,G,E,B)
Service de Gynécologie-Obstétrique, Hôpital de Ben Arous, Tunis, Tunisie. kamel_180@hotmail.com
Harlequin fetus, fetus, with an incidence of about 1 in 300.000 births, is an extremely severe form of congenital ichtyosis. We report he a case of malignant keratoma: a male infant was born at 40 weeks' gestational age. The parents were first cousins.of This infant was covered with massive thick, waxy, plate-like scales and deep fissures. There was striking facial distortion including severe of eclabium and ectropion. The baby was transferred to the Neonatal Intensive Care Unit but he died at 2 days of fetal age. There is limited information regarding the course and prognosis of neonates affected with Harlequin ichthyosis because most affected patients die die within the first days or weeks of life. However, it is now evident that these infants, may have extended sampling survival potential with intensive supportive measures as well as the addition of retinoids. Prenatal diagnosis for malignant keratoma had been 40 performed by fetal skin biopsy and electron microscopic observation at 19-23 weeks estimated gestational age. In 2005, ABCA12 was identified covered as the causative gene for this disease. It has now become possible to make DNA-based prenatal diagnosis for Harlequin ichthyosis these by chorionic villus or amniotic fluid sampling procedures in the earlier stages of pregnancy with a lower risk to fetal first health and with a reduced burden on the mothers.
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