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Fetal Diagnosis and Therapy

Luca Mazzone, Ueli Moehrlen, Barbara Casanova, Samira Ryf, Nicole Ochsenbein-Kölble, Roland Zimmermann, Franziska Kraehenmann, Martin Meuli
OBJECTIVE: The majority of patients counseled for prenatal open spina bifida repair (SBR) do not undergo fetal surgery. The aim of this study was to analyze the reasons for this phenomenon. MATERIALS AND METHODS: The data of the first 160 patients seeking counseling or referred to the Zurich Center for Fetal Diagnosis and Therapy for prenatal SBR between December 2010 and March 2017 were retrospectively analyzed. RESULTS: A total of 104 (65%) patients did not undergo prenatal SBR...
September 11, 2018: Fetal Diagnosis and Therapy
Pascal Heye, Ueli Moehrlen, Luca Mazzone, Robert Weil, Stefan Altermatt, David-Alexander Wille, Ianina Scheer, Martin Meuli, Maya Horst
INTRODUCTION: Fetal spina bifida repair (fSBR) has proven effective in the reversibility of hindbrain herniation, lower rate of shunt-dependent hydrocephalus, and independent ambulation. Besides distinct advantages, there are also concerns related to fSBR. One of these is the postnatal occurrence of inclusion cysts (IC). METHODS: In a prospective study, 48 children who underwent fSBR were followed up. Postnatal assessment included clinical examination, cystometry, and spinal MRI...
September 10, 2018: Fetal Diagnosis and Therapy
Maria Flavia Christino Luiz, Ahmet A Baschat, Cassandra Delp, Jena L Miller
Fetomaternal hemorrhage (FMH) is a rare condition that requires early diagnosis and appropriate treatment due to its potentially severe consequences. We report a case of massive FMH presenting as decreased fetal movement, fetal hydrops, and intracranial hemorrhage at 24 weeks. Treatment considerations were made and amniocentesis, fetal blood sampling, and fetal blood transfusion via cordocentesis were performed. Recurrent FMH required subsequent fetal transfusion 2 days later. Surveillance was continued twice weekly until the patient delivered a viable infant at 38 weeks after spontaneous labor...
September 10, 2018: Fetal Diagnosis and Therapy
Gloria Pelizzo, Rossana Bussani, Emanuela Mazzon, Carmelo Anfuso, Claudio Lombardi, Vanessa Zambelli, Lorenzo Zandonà, Annalisa De Silvestri, Floriana Zennaro, Valeria Calcaterra
BACKGROUND: Statins and sildenafil have been shown to exert beneficial effects in cardiac injury. We hypothesized that antenatal maternal administration of simvastatin and/or sildenafil might also promote benefits in cardiac remodeling of congenital diaphragmatic hernia (CDH). Therefore, we performed micro-CT image analysis and histology of the heart after antennal treatment in experimental nitrofen-induced CDH. METHODS: At 9.5 days post conception (dpc), pregnant rats were exposed to nitrofen...
September 10, 2018: Fetal Diagnosis and Therapy
Sofie Kruckow, Palle Schelde, Lotte Hatt, Katarina Ravn, Olav Bjørn Petersen, Niels Uldbjerg, Ida Vogel, Ripudaman Singh
We present the first study that investigates the effect of maternal body mass index (BMI) on the quantity of circulating fetal cells available to use in cell-based noninvasive prenatal test (cbNIPT). cbNIPT has been proposed as a superior alternative to noninvasive prenatal test from cell-free fetal DNA. Kølvraa et al. [Prenat Diagn. 2016 Dec; 36(12): 1127-34] established that cbNIPT can be performed on as few as one fetal cell, and Vestergaard et al. [Prenat Diagn. 2017 Nov; 37(11): 1120-4] demonstrated that these fetal trophoblast cells could be used successfully in cbNIPT to detect chromosomal and sub-chromosomal abnormalities...
September 10, 2018: Fetal Diagnosis and Therapy
Ida Vogel, Ann Tabor, Charlotte Ekelund, Stina Lou, Jon Hyett, Olav Bjørn Petersen
AIM: To examine the performance of the combined First Trimester Screening (cFTS) algorithm when outliers of 4 risk parameters (maternal age, nuchal translucency (NT) thickness, PAPP-A and β-hCG) were included in the classification of "high-risk". METHODS: A retrospective analysis of singleton pregnancies undergoing cFTS between 2008 and 2011 in Denmark. Abnormal karyotypes were classified as trisomy 21 (T21), trisomy 13 (T13) and trisomy 18 (T18), sex chromosome aberrations and atypical abnormal karyotypes...
September 10, 2018: Fetal Diagnosis and Therapy
Francisco López Sánchez, Elsa Delgado Sánchez, Inmaculada Duyos Mateo, María de la Cruz González Álvarez, Eugenia Antolín Alvarado, José Luis Bartha Rasero
OBJECTIVES: The aim of the present study was to evaluate fetal lung maturity using the noninvasive method of quantitative ultrasound analysis of fetal lung texture (quantusFLM) in women with gestational diabetes mellitus (GDM). METHODS: A total of 96 women at 36-38 weeks of gestation were enrolled. They were classified as follows: 33 GDM cases treated with diet, 30 GDM cases treated with diet plus insulin, and 33 normoglycemic women (control group). A quantitative analysis of lung texture was performed...
September 4, 2018: Fetal Diagnosis and Therapy
Lisa W Howley, Debnath Chatterjee, Sonali S Patel, Bettina F Cuneo, Timothy M Crombleholme, Nicholas Behrendt, Michael V Zaretsky, Ahmed I Marwan, Jeannie Zuk, Henry L Galan, Cristina Wood
INTRODUCTION: The use of perioperative tocolytic agents in fetal surgery is imperative to prevent preterm labor. Indomethacin, a well-known tocolytic agent, can cause ductus arteriosus (DA) constriction. We sought to determine whether a relationship exists between preoperative indomethacin dosing and fetal DA constriction. MATERIALS AND METHODS: This is an IRB-approved, single-center retrospective observational case series of 42 pregnant mothers who underwent open fetal myelomeningocele repair...
August 29, 2018: Fetal Diagnosis and Therapy
Katrine Vasehus Schou, Ane Vibeke Lando, Charlotte Kvist Ekelund, Lisa Neerup Jensen, Connie Jørgensen, Lone Nikoline Nørgaard, Line Rode, Kirsten Søgaard, Ann Tabor, Karin Sundberg
INTRODUCTION: We sought to assess the incidence of severe neurodevelopmental impairment (NDI) in monochorionic twins treated for twin-twin transfusion syndrome (TTTS) and compare it to the incidence in uncomplicated monochorionic twins. MATERIAL AND METHODS: We included TTTS pregnancies treated by fetoscopic selective laser coagulation (FSLC) or umbilical cord occlusion (UCO) in 2004-2015. Primary outcome was severe NDI defined as cerebral palsy, bilateral blindness or bilateral deafness (ICD-10 diagnoses), and severe cognitive and/or motor delay (assessed by the Ages and Stages Questionnaires [ASQ])...
August 27, 2018: Fetal Diagnosis and Therapy
Andrea Dall'Asta, Gowrishankar Paramasivam, Christoph Lees, Tullio Ghi, Tiziana Frusca
Antenatal imaging of craniosynostosis mainly relies on the demonstration with 2D ultrasound of the abnormal contour of the calvarium and of the loss of hypoechogenicity of the synostotic sutures and on indirect signs of premature closure of the skull sutures; however, isolated craniosynostosis is detected only sporadically at prenatal ultrasound. In this article, we present the first case to our knowledge in which the "brain shadowing sign," a recently described indirect sign of craniosynostosis, noted at 24 weeks in a structurally normal fetus, was the first clue for the diagnosis of isolated bilateral coronal craniosynostosis, which became evident at late gestation...
August 23, 2018: Fetal Diagnosis and Therapy
Cara D Dolin, Andrea L Deierlein, Mark I Evans
Some medical practices have been ingrained in custom for decades, long after "proof" that they were effective was established. It is necessary to periodically reevaluate these practices, as newer theories and research may challenge the evidence upon which they were based. An example is the decades' old practice of recommending a 4-mg (4,000-µg) supplement of folic acid to women who are at risk for recurrent neural tube defect (NTD) during pregnancy. This recommendation was based on findings from a randomized clinical trial in 1991...
August 22, 2018: Fetal Diagnosis and Therapy
Emilia Kostenko, Frederic Chantraine, Katleen Vandeweyer, Maximilian Schmid, Alex Lefevre, Deanna Hertz, Laura Zelle, Jose Luis Bartha, Gian Carlo Di Renzo
OBJECTIVE: To evaluate the clinical and economic impact of adopting noninvasive prenatal testing (NIPT) using circulating cell-free DNA as a first-line screening method for trisomy 21, 18, and 13 in the general pregnancy population. METHODS: A decision-analytical model was developed to assess the impact of adopting NIPT as a primary screening test compared to conventional screening methods. The model takes the Belgium perspective and includes only the direct medical cost of screening, diagnosis, and procedure-related complications...
August 21, 2018: Fetal Diagnosis and Therapy
Shai Shrot, Bruno P Soares, Matthew T Whitehead
OBJECTIVES: Chiari II malformation is a congenital abnormality characterized by a small posterior fossa with downward displacement of the hindbrain into the foramen magnum. Diffusion-weighted imaging (DWI) can be used to quantitatively characterize brain injury and physiological maturation. We aim to evaluate DWI parameters of the infra- and supratentorial brain in fetuses with Chiari II malformation. METHODS: MRI and US studies of 26 fetuses with Chiari II malformation and 15 controls were evaluated for the presence/severity of hydrocephalus, myelomeningocele level, and brain apparent diffusion coefficient (ADC) values...
August 17, 2018: Fetal Diagnosis and Therapy
Claire Guissart, Frédéric Tran Mau Them, Vanessa Debant, Victoria Viart, Charlotte Dubucs, Victoria Pritchard, Cécile Rouzier, Amandine Boureau-Wirth, Emmanuelle Haquet, Jacques Puechberty, Eric Bieth, Philippe Khau Van Kien, Marie-Pierre Brechard, Caroline Raynal, Anne Girardet, Mireille Claustres, Michel Koenig, Marie-Claire Vincent
BACKGROUND: Analysis of cell-free fetal DNA in maternal plasma is very promising for early diagnosis of monogenic diseases. However, it has been limited by the need to set up patient- or disease-specific custom-made approaches. Here we propose a universal test based on fluorescent multiplex PCR and size fragment analysis for an indirect diagnosis of cystic fibrosis (CF). METHODS: The test, based on haplotyping, includes nine intra- and extragenic short tandem repeats of the CFTR locus, the coamplification of p...
August 17, 2018: Fetal Diagnosis and Therapy
Nathalie J M Bravo-Valenzuela, Paulo Zielinsky, Jesús Zurita-Peralta, Luiz Henrique Nicoloso, Antonio Piccoli, Luiza Ferreira Van der Sand, Natássia Miranda Sulis, Camila Carvalho Ritter
INTRODUCTION: In intrauterine growth restriction (IUGR), increased uteroplacental vascular impedance contributes to preferential flow to left ventricle (LV), with consequent alteration of its compliance and increased left atrial (LA) pressure. Pulmonary vein pulsatility index (PVPI) reflects the increased impedance to LA filling and could be used as a cardiac monitoring parameter in IUGR. MATERIAL AND METHODS: A total of 27 IUGR fetuses (group 1), 28 fetuses with appropriate growth for gestational age from hypertensive mothers (group 2), and 28 controls (group 3) were studied...
August 17, 2018: Fetal Diagnosis and Therapy
Tullio Ghi, Andrea Dall'Asta, Laura Franchi, Stefania Fieni, Nicola Gaibazzi, Carmine Siniscalchi, Giuseppe Pedrazzi, Elisa Montaguti, Daniela Degli Esposti, Maria Giovanna Carpano, Alice Suprani, Rossana Orabona, Federico Prefumo, Enrico Vizzardi, Ivano Bonadei, Edoardo Sciatti, Claudio Borghi, Tiziana Frusca
OBJECTIVE: The objective of this study was to longitudinally evaluate maternal echocardiographic findings in uncomplicated twin gestations according to chorionicity. METHODS: Healthy women with twin pregnancy were assessed with transthoracic echocardiography across the first, second, and third trimesters. Cardiac findings were compared within each group and between monochorionic (MC) and dicho-rionic (DC) pregnancies. RESULTS: Overall, 19 MC and 48 DC uncomplicated twin pregnancies were included...
August 17, 2018: Fetal Diagnosis and Therapy
Winnie W Y Chan, Piya Chaemsaithong, Wen Teng Lim, Ada W T Tse, Angel H W Kwan, Tak Yeung Leung, Daljit S Sahota, Liona C Poon
OBJECTIVE: To examine (1) the concordance of manual and automated para-symphyseal angle of progression (psAOP) measurements, (2) the repeatability of psAOP, head-symphysis distance, head-perineum distance, and sonographic cervical dilatation, and (3) the value of transperineal ultrasound (TPU) in predicting induction of labor (IOL) outcome. METHODS: We performed a prospective study in 308 women with singleton pregnancies undergoing IOL at term. Logistic regression analysis was used to determine which maternal factors, Bishop score, method of IOL, and TPU parameters were significant predictors of cesarean section (CS) and CS due to no progress (CS-NP)...
August 17, 2018: Fetal Diagnosis and Therapy
Hein Bogers, Leonie Baken, Titia E Cohen-Overbeek, Anton H J Koning, Sten P Willemsen, Peter J van der Spek, Niek Exalto, Eric A P Steegers
INTRODUCTION: The aim of this study was to investigate the development of midgut herniation in vivo using three-dimensional (3D) ultrasonographic volume and distance measurements and to create reference data for physiological midgut herniation in ongoing pregnancies in a tertiary hospital population. MATERIALS AND METHODS: The transvaginal 3D ultrasound volumes of 112 women, seen weekly during the first trimester of pregnancy, were obtained and subsequently analysed in a virtual reality environment...
August 15, 2018: Fetal Diagnosis and Therapy
Patrick Greimel, Bence Csapo, Martin Haeusler, Uwe Lang, Philipp Klaritsch
Monochorionic monoamniotic (MA) twins are at increased risk for intrauterine demise (IUD) and discordant anomalies. Selective feticide by cord occlusion may be an option in case of unfavorable discordant problems. In MA pregnancies, however, the surviving co-twin still remains at serious risk for IUD due to progressive cord entanglement. Cord transection has therefore been recommended to protect the survivor. This procedure may turn out to be difficult. We herein describe a modified fetoscopic technique for laser transection using a grasping forceps...
August 8, 2018: Fetal Diagnosis and Therapy
Nicole Ochsenbein-Kölble, Simone Brandt, Peter Bode, Franziska Krähenmann, Margaret Hüsler, Ueli Möhrlen, Luca Mazzone, Martin Meuli, Roland Zimmermann
INTRODUCTION: Among the risks associated with open fetal surgery, myometrium and fetal membrane issues are vexing problems since they may lead to uterine dehiscence or preterm premature rupture of membranes resulting in uterine rupture or preterm birth or both. The aim of this study was to examine whether stapled and sutured hysterotomy scars demonstrate partial or complete healing. METHODS: Hysterotomy sites after open fetal surgery were clinically evaluated in 36 women during Caesarean section, classified into the categories intact, thin, and partially or completely dehiscent, then completely excised and histologically analyzed in 25 cases...
July 26, 2018: Fetal Diagnosis and Therapy
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