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Journal of Prenatal Medicine

Franco Pepe, Maria Cristina Teodoro, Carlo Luca, Francesca Privitera
INTRODUCTION: twin reversed arterial perfusion (TRAP) sequence is a rare anomaly that occurs in monochorionic twins with overall mortality rate ranging from 50% to 70% in the normal fetus, above all for congestive cardiac failure. CASE REPORT: a 31-year-old Caucasian gravida was referred to our fetomaternal medicine unit in the 25 gestational age. Ultrasound examination revealed a monochorionic, biamniotic twin pregnancy with a donor fetus showing normal morphology and growth corresponding to gestational age...
July 2015: Journal of Prenatal Medicine
Enrico Colosi, Rosalia Musone, Gilda Filardi, Alma Fabbo
OBJECTIVE: to validate the use of the first trimester scan not just as a screening tool for chromosomal anomalies, but also as a method to identify the major anatomic anomalies using 10 standardized scans. METHODS: five years of prospective study analyzing the fetal anatomy of 5924 patients with a singleton pregnancy during the first trimester screening for chromosomopathies. A check list of 10 predetermined scans had been used. The follow up consisted of two more scans in the second and third trimester, according to the local protocol, and a final evaluation of neonatal outcome at birth...
July 2015: Journal of Prenatal Medicine
Ayham Alhaj Darouich, Thomas Liehr, Anja Weise, Dietmar Schlembach, Ekkehart Schleußner, Michael Kiehntopf, Isolde Schreyer
INTRODUCTION: Alpha-fetoprotein (AFP) concentrations can be determined framing others from invasively acquired amnion fluid (AF-AFP). While the biological role of AFP remains unclear it is well known that AFP-levels can be altered in connection with specific clinical and/or genetic alterations of the fetus. MATERIALS AND METHOD: here a retrospective study based on 3,119 singleton and 56 twin pregnancies is presented. The standard levels of amnion fluid derived alpha-fetoprotein level (AF-AFP) between 12th and 36th weeks of gestation were determined...
July 2015: Journal of Prenatal Medicine
Filippo Di Meglio, Carmine Vascone, Letizia Di Meglio, Luigi Carlo Lo Turco, Salvatore Giovanni Vitale, Pietro Cignini, Gaetano Valenti, Ferdinando Antonio Gulino, Agnese Maria Chiara Rapisarda, Stefano Cianci
INTRODUCTION: the ultrasound prenatal diagnosis of aphakia is a difficult diagnosis and often requires a genetic study of the karyotype. CASE REPORT: we present a rare case of prenatal bilateral aphakia, confirmed after bird. The patient was observed by ultrasound during the 23rd week of pregnancy. Through transabdominal ultrasound the lens could not be visualized bilaterally. The remaining anathomy, explorable by ultrasound, was still regular. When aphakia is suspected, genetic counseling is essential...
January 2015: Journal of Prenatal Medicine
Paolo Rosati, Lorenzo Guariglia, Anna Franca Cavaliere, Paola Ciliberti, Silvia Buongiorno, Andrea Ciardulli, Stefano Cianci, Salvatore Giovanni Vitale, Pietro Cignini, Ilenia Mappa
OBJECTIVE: to compare perinatal outcome in induced postterm pregnancies with normal amniotic volume and in patients with prolonged pregnancy undergone induction for oligohydramnios, evaluated by two different ultrasonographic methods. METHODS: amniotic fluid volume was measured, using Single Deepest Vertical Pocket (SDVP) and Amniotic Fluid Index (AFI), in 961 singleton uncomplicated prolonged pregnancies. In 109 of these patients, hospitalization was planned for induction of labor, during or after 42 weeks of gestation, for oligohydramnios, postterm pregnancy and other indications in 47, 51 and 11 cases, respectively...
January 2015: Journal of Prenatal Medicine
Francesco Libotte, Domenico Bizzoco, Ivan Gabrielli, Caterina Tamburrino, Cristina Ernandez, Lorena Carpineto, Maria Pia D'Aleo, Antonella Cima, Alvaro Mesoraca, Pietro Cignini, Alessia Aloisi, Roberto Angioli, Salvatore Giovanni Vitale, Claudio Giorlandino
INTRODUCTION: deletion of long arm of chromosome 1(1q-) is a rare condition. Clinical features include Dwarfism, severe mental retardation, microcephaly and short neck delineating the "intermediate 1q deletion syndrome". CASE REPORT: we report a new case of interstitial deletion of the long arm of chromosome 1, diagnosed in a 22+3 weeks gestation fetus in which cytogenetic analysis localized a loss of genetic materials of 18Mb in the 1q25.3-32.1. Fetal ultrasound showed neurodegenerative defects resembling Dandy-Walker's syndrome and bilateral clubfoot...
January 2015: Journal of Prenatal Medicine
Pietro Cignini, Lucia Mangiafico, Francesco Padula, Laura D'Emidio, Nella Dugo, Alessia Aloisi, Claudio Giorlandino, Salvatore Giovanni Vitale
During pregnancy, iron deficiency anemia is recognized as a specific risk factor for both adverse maternal and perinatal outcome. We decided to test the hypothesis that the daily administration of Lafergin(®), a dietary multicomponent based on Ferrazone(®) (Ferric Sodium EDTA), Lactoferrin, Vitamin C and Vitamin B12, from first trimester of pregnancy until the end of gestation, may significantly reduce, in anemic women, the severity of anemia compared to controls who received ferrous sulfate or liposomal iron...
January 2015: Journal of Prenatal Medicine
Carmine Vascone, Filippo Di Meglio, Letizia Di Meglio, Luigi Carlo Lo Turco, Salvatore Giovanni Vitale, Pietro Cignini, Ilaria Marilli, Agnese Maria Chiara Rapisarda, Gaetano Valenti, Stefano Cianci
INTRODUCTION: Seckel Syndrome is a rare autosomal recessive disorder characterized by dwarfism, microcephaly and the absence of visceral malformations. CASE REPORT: we observed sonographic features of a Seckel Syndrome, in a patient during the 24th week of pregnancy. Her family history was negative for malformation and chromosomal disorders. The diagnosis was later confirmed by molecular tests. CONCLUSION: diagnosis should be made only by expert operators...
April 2014: Journal of Prenatal Medicine
Claudio Dello Russo, Gianluca Di Giacomo, Pietro Cignini, Francesco Padula, Lucia Mangiafico, Alvaro Mesoraca, Laura D'Emidio, Megan R McCluskey, Arianna Paganelli, Claudio Giorlandino
BACKGROUND: prenatal genetic diagnosis of rare disorders is undergoing in recent years a significant enhancement through the application of methods of massive parallel sequencing. Despite the quantity and quality of the data produced, just few analytical tools and software have been developed in order to identify structural and numerical chromosomal anomalies through NGS, mostly not compatible with benchtop NGS platform and routine clinical diagnosis. METHODS: we developed technical, bioinformatic, interpretive and validation pipelines for Next Generation Sequencing to identify SNPs, indels, aneuploidies, and CNVs (Copy Number Variations)...
April 2014: Journal of Prenatal Medicine
Francesco Padula, Pietro Cignini, Diana Giannarelli, Cristiana Brizzi, Claudio Coco, Laura D'Emidio, Elsa Giorgio, Maurizio Giorlandino, Lucia Mangiafico, Marialuisa Mastrandrea, Vincenzo Milite, Luisa Mobili, Cinzia Nanni, Raffaella Raffio, Cinzia Taramanni, Roberto Vigna, Alvaro Mesoraca, Domenico Bizzoco, Ivan Gabrielli, Gianluca Di Giacomo, Maria Antonietta Barone, Antonella Cima, Francesca Romana Giorlandino, Sabrina Emili, Marina Cupellaro, Claudio Giorlandino
OBJECTIVES: to assess the performance of a combined first-trimester screening for trisomy 21 in an unselected Italian population referred to a specialized private center for prenatal medicine. METHODS: a retrospective validation of first-trimester screening algorithms [risk calculation based on maternal age and nuchal translucency (NT) alone, maternal age and serum parameters (free β-hCG and PAPP-A) alone and a combination of both] for fetal aneuploidies evaluated in an unselected Italian population at Artemisia Fetal-Maternal Medical Centre in Rome...
April 2014: Journal of Prenatal Medicine
Stefano Cianci, Salvatore Giovanni Vitale, Roberto Tozzi, Pietro Cignini, Francesco Padula, Laura D'Emidio, Lucia Mangiafico, Claudio Giorlandino, Luigi Frigerio, Diego Rossetti, Salvatore Caruso
INTRODUCTION: fallopian tube choriocarcinoma coexistent with viable intrauterine pregnancy is an extremely rare condition. CASE REPORT: we present the first case reported in literature of tubal choriocarcinoma coexistent with viable intrauterine pregnancy detected at early gestational age (20 weeks) and successfully managed by seriate monitoring of maternal and fetal health status until 31 weeks, then treated by cesarean section followed by etoposide, methotrexate, actinomycin D, cyclophosphamide, and vincristine (EMA-CO) chemotherapy protocol...
April 2014: Journal of Prenatal Medicine
Letizia Di Meglio, Laura Letizia Mazzarelli, Amedeo Boscaino, Dino Cancemi, Franco Morelli, Maria Concetta Lonardo, Valeria Lonardo, Patrizia Friso, Carmine Spampanato, Maria Urciuoli, Marialuisa Ventruto, Valerio Ventruto
OBJECTIVE: the purpose of this paper is to report the first case of megaurethra in a fetus with Meckel syndrome and in a fetus with femal pseudoermaphroditism. RESULTS: the former case refers to a fetus of 13 weeks gestation with the three following prominent anomalies, observed by transonic scan and confirmed by autopsy: congenital megaurethra, anal atresia, single umbelical artery. The latter case refers to a fetus of 18 weeks gestation. Autopsy confirmed penile malformation and revealed ovaries in the abdomen...
April 2014: Journal of Prenatal Medicine
Salvatore Giovanni Vitale, Ilaria Marilli, Pietro Cignini, Francesco Padula, Laura D'Emidio, Lucia Mangiafico, Agnese Maria Chiara Rapisarda, Ferdinando Antonio Gulino, Stefano Cianci, Antonio Biondi, Claudio Giorlandino
In the last decades cesarean section rates increased in many countries becoming the most performed intraperitoneal surgical procedure. Despite its worldwide spread, a general consensus on the most appropriate technique to use has not yet been reached. The operative technique performed is made chiefly on the basis of the individual experience and preference of operators, the characteristics of patients, timing and urgency of intervention. We compared the two most known and used techniques, modified Misgav-Ladach and traditional Pfannenstiel-Kerr, and analyzed their impact on primary, short- and long-term outcomes and outcome related to health service use...
April 2014: Journal of Prenatal Medicine
Nella Dugo, Francesco Padula, Luisa Mobili, Cristiana Brizzi, Laura D'Emidio, Pietro Cignini, Alvaro Mesoraca, Domenico Bizzoco, Antonella Cima, Claudio Giorlandino
INTRODUCTION: recent studies have proposed the introduction of cell-free fetal DNA testing (NIPT-Non Invasive Prenatal Testing) in routine clinical practice emphasizing its high sensibility and specificity. In any case, false positive and false negative findings may result from placental mosaicism, because cell-free fetal DNA originates mainly from placenta. CASE: WE REPORT SIX CASES OF WOMEN WHO UNDERWENT CHORIONIC VILLUS SAMPLING (CVS) OR AMNIOCENTESIS TO CONFIRM THE RESULTS FROM NIPT: two Turner syndromes, two Triple X, one Patau syndrome, one Edward syndrome...
January 2014: Journal of Prenatal Medicine
Bayar M Najat Nakishbandy, Sabat A M Barawi
BACKGROUND AND OBJECTIVES: high concentrations of maternal C-reactive protein have been associated with adverse pregnancy outcome, and premature uterine contraction may be predicted by elevated levels of C-reactive protein. This may ultimately be simple and cost-effective enough to introduce as a low-risk screening program. PATIENTS AND METHODS: an observational case control study was performed from May 1st, 2010 to December 1st, 2010 at Maternity Teaching Hospital-Erbil/ Kurdistan Region/ Iraq...
January 2014: Journal of Prenatal Medicine
Claudio Dello Russo, Gianluca Di Giacomo, Alvaro Mesoraca, Laura D'Emidio, Paola Iaconianni, Elisa Minutolo, Assunta Lippa, Claudio Giorlandino
INTRODUCTION: the use of Next Generation Sequencing (NGS) in the diagnosis of rare genetic pathologies is becoming ever more widespread in clinical practice. The following study reports the first case of preimplantation diagnosis through NGS of a form of LAMA2-related muscular dystrophy. CASE REPORT: a couple came to our Reproductive Medicine Centre for a preconceptional genetic consultation and for advice regarding secondary infertility. The couple already had a 3-year-old child who was suffering from a form of muscular dystrophy that has yet to be genetically defined...
January 2014: Journal of Prenatal Medicine
Karina Peres Silva, Luciane Alves Rocha, Ana Teresa Figueiredo Stochero Leslie, Ruth Guinsburg, Célia Maria Camelo Silva, Luciano Marcondes Machado Nardozza, Antonio Fernandes Moron, Edward Araujo Júnior
OBJECTIVE: to describe the epidemiological data of the population born with the diagnosis of Congenital Heart Disease (CHD); to compare diagnoses made using fetal echocardiography with the findings from postnatal echocardiography or anatomopathological examination of the heart; and to evaluate mortality among newborns that underwent surgical treatment. METHODS: this was a cohort study with information gathered from the medical records of the pregnant women and their newborns diagnosed with CHD during the fetal or postnatal periods, between January 2008 and December 2012...
January 2014: Journal of Prenatal Medicine
Claudio Giorlandino, Alvaro Mesoraca, Domenico Bizzoco, Claudio Dello Russo, Antonella Cima, Gianluca Di Giacomo, Pietro Cignini, Francesco Padula, Nella Dugo, Laura D'Emidio, Cristiana Brizzi, Raffaella Raffio, Vincenzo Milite, Lucia Mangiafico, Claudio Coco, Ornella Carcioppolo, Roberto Vigna, Marialuisa Mastrandrea, Luisa Mobili
No abstract text is available yet for this article.
January 2014: Journal of Prenatal Medicine
Manuela Coco, Fabrizio Salvinelli, Fabio Greco, Maurizio Trivelli, Laura D'Emidio, Alvaro Mesoraca, Claudio Giorlandino, Raffaella Raffio, Claudio Coco
OBJECTIVE: to determinate the role of heterozygosis of M34T mutation of GJB2 gene in non syndromic congenital deafness. METHODS: retrospective study between March 2010 and June 2013. Molecular screening for 35delG and M34T mutations of the GJB2 gene was offered to all women undergoing to second trimester genetic amniocentesis. Patients were excluded from the study group if one of the following conditions were present: infections, fetal abnormalities, family history for congenital deafness, diagnosis of chromosomal abnormalities, and consanguinity between parents...
October 2013: Journal of Prenatal Medicine
Enrico Colosi, Carlo Russo, Gabriele Macaluso, Rosalia Musone, Chiara Catalano
UNLABELLED: The rhabdomyoma constitutes more than 60% of all cardiac tumors that are diagnosed in the prenatal and postnatal age. In more than 50% of cases, it is the first clinical manifestation of tuberous sclerosis (TS), autosomal dominant genetic condition and multisystem involvement. METHODS: we report a case of cardiac rabdomyomatosis in twin pregnancy bicorial biamniotic, with suspicion for tuberous sclerosis, diagnosed at our hospital. For the diagnosis of cardiac rhabdomyomas we used the two-dimensional ultrasound, and 3D echocardiography...
October 2013: Journal of Prenatal Medicine
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