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Fetal Diagnosis and Therapy

Tuangsit Wataganara, Suresh Seshadri, Tak Yeung Leung, Citra Matter, Monawat Ngerncham, Namtip Triyasunant, Padmakar Vidyadhar Mali, Agnhitori Biswas, Katika Nawapun, Nisarat Phithakwatchara, Alan W Flake, Mark P Johnson, Arijit Biswas, Mahesh Choolani
OBJECTIVES: The Management of Myelomeningocele Study (MOMS Trial) has inspired many fetal therapy centers (FTCs) to offer open fetal surgery for myelomeningocele (MMC). This is an initial effort to create a candidate model that can be applicable to many parts of Asia. MATERIAL AND METHODS: A limited selection of specialists from 4 established FTCs in Thailand, Hong Kong, India, and Singapore met for a round table discussion. Experts from Children's Hospital of Philadelphia (CHOP) involved in the Trial moderated the session...
February 21, 2017: Fetal Diagnosis and Therapy
Beatrice Mosimann, Sofia Amylidi-Mohr, Katrin Höland, Daniel Surbek, Lorenz Risch, Luigi Raio
OBJECTIVE: The aims of this study were to test whether the performance of first-trimester placental growth factor (PlGF) in screening for preterm preeclampsia (PE) is gestational age dependent and to assess the value of serial first-trimester PlGF measurements in discriminating women at risk for PE. METHODS: PlGF was measured in women with singleton pregnancies at their first antenatal visit at 8+0 to 10+6 and additionally at 11+0 to 14+0 weeks of gestation. The difference in absolute values of serial PlGF measurements was expressed as Δ-PlGF...
February 16, 2017: Fetal Diagnosis and Therapy
Alexander C Engels, Anne Debeer, Francesca M Russo, Michael Aertsen, Katleen Aerts, Marc Miserez, Jan Deprest, Liesbeth Lewi, Roland Devlieger
A 27-year-old woman, gravida 2, para 0, presented with an incomplete Pentalogy of Cantrell with an omphalocele, diaphragmatic hernia, and a pericardial defect at 32 weeks' gestation. A large pericardial effusion compressed the lungs and had led to a reduced lung growth with an observed-to-expected total lung volume of 28% as measured by MRI. The effusion disappeared completely after the insertion of a pericardio-amniotic shunt at 33 weeks. After birth, the newborn showed no signs of pulmonary hypoplasia and underwent a surgical correction of the defect...
February 15, 2017: Fetal Diagnosis and Therapy
Francesco Crea, Matthew Forman, Rachel Hulme, Robert W Old, Dan Ryan, Rosalyn Mazey, Michael D Risley
OBJECTIVE: To develop a screening test for fetal trisomy 13, 18, and 21 using cell-free DNA from maternal blood with an automated workflow using the Ion Proton sequencing platform. METHODS: An automated next-generation sequencing workflow was developed using the Ion Proton sequencing platform and software developed for straightforward bioinformatic analysis. An algorithm was developed using 239 samples to determine the likelihood of trisomy, using DNA fragment counts and a fetal fraction validity check; the results were compared with those from invasive diagnostic procedures...
February 8, 2017: Fetal Diagnosis and Therapy
Míriam Illa, Elisenda Eixarch, Emma Muñoz-Moreno, Dafnis Batalle, Rocío Leal-Campanario, Agnès Gruart, José María Delgado-García, Francesc Figueras, Eduard Gratacós
INTRODUCTION: Chronic reduction of oxygen and nutrient delivery to the fetus has been related to neurodevelopmental problems. Placental underperfusion induces a significant reduction in oxygen and nutrient delivery, whereas maternal undernutrition causes mainly nutrient deficiency. A comparison of the neurodevelopmental effects of both situations in pregnant rabbits was performed. MATERIALS AND METHODS: The placental underperfusion model was induced after uteroplacental vessel ligation at 25 days of pregnancy...
5, 2017: Fetal Diagnosis and Therapy
Liam Dunn, Ristan Greer, Vicki Flenady, Sailesh Kumar
INTRODUCTION: This systematic review evaluates maternal tolerance and obstetric and perinatal outcomes following sildenafil citrate (SC) use in human pregnancy. DATA SOURCES: Scopus, PubMed, Cochrane Library, Web of Science, Embase, and Google Scholar were searched. Relevant full-text studies including case series and reports in English were included. Publications were excluded if the pregnancy was terminated or if SC was used only at conception. RESULTS: Sixteen studies were included (n = 165)...
December 8, 2016: Fetal Diagnosis and Therapy
Lea Tuzovic
No abstract text is available yet for this article.
2017: Fetal Diagnosis and Therapy
William J Polzin, Foong Y Lim, Mounira Habli, James Van Hook, Melissa Minges, Ronald Jaekle, Timothy M Crombleholme
OBJECTIVE: We describe a technique to maintain amniotic fluid in fetuses with severe oligo-/anhydramnios secondary to lower urinary tract obstruction or fetal renal disease when urine production is inadequate to maintain a normal amniotic fluid volume (AFV). METHODS: An amnioport was inserted into the amniotic space. The catheter was secured to prevent dislodgment and tunneled to a subcutaneous reservoir. The reservoir was accessed as necessary, infusing normal saline to maintain AFV...
2017: Fetal Diagnosis and Therapy
Michael R Mallmann, Viola Graham, Bettina Rösing, Ingo Gottschalk, Andreas Müller, Ulrich Gembruch, Annegret Geipel, Christoph Berg
OBJECTIVE: To assess predictors for survival and complications among a relatively large cohort of fetuses with hydrothorax treated by thoracoamniotic shunting. METHODS: All cases with hydrothorax treated by thoracoamniotic shunting in a 10-year period (2002-2011) in two centers were retrospectively reviewed. RESULTS: A total of 78 fetuses with hydrothorax treated with thoracoamniotic shunting were included in the study. Mean gestational age at diagnosis was 25...
2017: Fetal Diagnosis and Therapy
Federica Bellussi, Antonella Perolo, Tullio Ghi, Aly Youssef, Gianluigi Pilu, Giuliana Simonazzi
OBJECTIVES: To analyze the role of middle cerebral artery (MCA) peak systolic velocity (PSV) in the prediction of severe fetomaternal hemorrhage (FMH) and to compare it with standard biophysical assessment. DATA SOURCES: Retrospective review of cases of FMH seen in our unit and systematic review of the literature. RESULTS: We followed the MOOSE guidelines to review the literature. From 838 articles, 16 were selected. In total, 35 women, including 3 cases from our center and 32 obtained from the literature search were included...
2017: Fetal Diagnosis and Therapy
Michael Rudolf Mallmann, Heiko Reutter, Annette Margarete Müller, Annegret Geipel, Christoph Berg, Ulrich Gembruch
OBJECTIVE: The omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex is a rare variant of the bladder exstrophy epispadias complex with in most cases unknown etiology. Due to the rarity of the disease, no large series exist that describe the prenatal spectrum of disease or additional malformations. METHODS: In this study, we present the prenatal findings in a series of 12 cases. RESULTS: All fetuses showed exstrophy of the bladder, 9/12 omphalocele, 9/12 anal atresia, 10/12 neural tube defects, 4/12 vertebral defects, 5/12 lower extremity defects including clubfeet, and 4/12 a single umbilical artery...
2017: Fetal Diagnosis and Therapy
Olivia Holland, Thomas Kroneis, Amin El-Heliebi, Maria McDowell-Hook, Peter Stone, Peter Sedlmayr, Lawrence Chamley
OBJECTIVES: A key problem in prenatal screening using extra-embryonic cells is the feasibility of extracting usable DNA from a small number of cells. Syncytial nuclear aggregates (SNAs) are multinucleated structures shed from the placenta. This study assesses the potential of SNAs as a source of fetal DNA for the detection of genetic abnormalities. METHODS: SNAs were collected in vitro. Whole-genome amplification was used to amplify DNA from single SNAs, and DNA quality and quantity was assessed by spectrophotometry and PCR...
2017: Fetal Diagnosis and Therapy
José Morales-Roselló, Asma Khalil, Amparo Alba-Redondo, Luisa Martinez-Triguero, Farida Akhoundova, Alfredo Perales-Marín, Basky Thilaganathan
OBJECTIVE: To evaluate the umbilical cord venous S100β levels in late-pregnancy fetuses with abnormal growth and cerebral redistribution. METHODS: The pulsatility index of the umbilical and middle cerebral arteries and the cerebroplacental ratio (CPR) were measured in 132 fetuses at ≥34 weeks, and the CPR was converted into multiples of the median (MoM). A blood sample from the umbilical vein was collected at birth, and the umbilical venous S100β levels were evaluated in small and non-small for gestational age (SGA) fetuses, with and without abnormal Doppler indices...
2017: Fetal Diagnosis and Therapy
Ferdinand Dhombres, Stéphanie Friszer, Paul Maurice, Marie Gonzales, François Kieffer, Catherine Garel, Jean-Marie Jouannic
OBJECTIVE: To evaluate the neurodevelopmental and ocular outcome of a continuous retrospective series of fetal toxoplasmosis infections for which prenatal ultrasound (US) follow-up revealed abnormal cerebral findings without associated ventriculomegaly. MATERIALS AND METHODS: We retrospectively reviewed all cases of proven fetal Toxoplasma gondii infection with fetal cerebral anomalies at US examination without significant ventriculomegaly (≥10 mm) evaluated in our center over a 5-year period...
2017: Fetal Diagnosis and Therapy
Marei Sammar, Argyro Syngelaki, Adi Sharabi-Nov, Kypros Nicolaides, Hamutal Meiri
OBJECTIVES: To assess Congo red urine test in the first trimester for preeclampsia (PE) prediction. SAMPLE: A Congo red test was developed with a cohort of 81 pregnant women in Bnai Zion hospital, Israel, at 26-41 weeks of gestation (12 PE cases). The test was then applied to a first-trimester cohort of 642 women at King's College Hospital, UK (105 subsequently developed PE, 21 early, i.e., <34 weeks; 537 controls). METHODS: Urine samples were spotted onto nitrocellulose membranes, stained with Congo red, de-stained, dried and quantified with imager and densitometry...
2017: Fetal Diagnosis and Therapy
Patricia Garcia-Canadilla, Fatima Crispi, Monica Cruz-Lemini, Brenda Valenzuela-Alcaraz, Paula A Rudenick, Eduard Gratacos, Bart H Bijnens
OBJECTIVE: The aortic isthmus (AoI) blood flow has a characteristic shape with a small end-systolic notch observed during the third trimester of pregnancy. However, what causes the appearance of this notch is not fully understood. We used a lumped model of the fetal circulation to study the possible factors causing the end-systolic notch and the changes of AoI flow through gestation. METHODS: A validation of the model was performed by fitting patient-specific data from two normal fetuses...
2017: Fetal Diagnosis and Therapy
Yvonne Kwun Yue Cheng, Simon Chun Ho Yu, Po Lam So, Tak Yeung Leung
We describe a case of large chorioangioma diagnosed at 22 weeks of gestation. As the tumour progressively enlarged to 8 cm with fetal cardiomegaly and increased middle cerebral arterial peak systolic velocity, embolisation of its feeding artery by percutaneous injection of cyanoacrylate was performed under ultrasound guidance. Devascularisation was immediate and complete, and the fetal cardiomegaly and anaemic features resolved after 3 weeks. A healthy infant was born at 34 weeks of gestation following spontaneous preterm labour...
2017: Fetal Diagnosis and Therapy
Marcus D Jarboe, Deborah R Berman, Tiffany Wright, Marjorie C Treadwell, George B Mychaliska
Fetoscopic laser coagulation of the placental communicating vessels has become the standard treatment for monochorionic/diamniotic twin pregnancies complicated by severe twin-twin transfusion syndrome. Fetoscopic trocar placement can be performed with transabdominal ultrasound guidance with a posterior placenta and most anterior placentas that have a safe avascular window for entry. However, trocar insertion is challenging in cases of a complete anterior placenta without an avascular window. Current techniques to deal with this situation include mini-laparotomy with exteriorization to allow for dorsal entry, percutaneous lateral entry under transabdominal ultrasound/Doppler guidance, and laparoscopic assisted access with direct visualization of trocar entry...
2017: Fetal Diagnosis and Therapy
Merel Bakker, Margherita Pace, Els de Jong-Pleij, Erwin Birnie, Karl-Oliver Kagan, Caterina M Bilardo
OBJECTIVE: To investigate the feasibility and reproducibility of the prenasal thickness (PNT)/nasal bone length (NBL) ratio, maxilla-nasion-mandible (MNM) angle, facial profile line, profile line distance, and prefrontal space ratio (PFSR) in the first trimester of pregnancy, develop normal ranges, and evaluate these markers in abnormal fetuses. METHODS: All measurements were performed on stored images by two operators. Feasibility, interoperator agreement, and prediction intervals were calculated for all measurements...
November 18, 2016: Fetal Diagnosis and Therapy
Evelyn A Huhn, Maren I Müller, Andrea H Meyer, Gwendolin Manegold-Brauer, Wolfgang Holzgreve, Irene Hoesli, Frank H Wilhelm
BACKGROUND: Fetal electrocardiography using an abdominal monitor (Monica AN24™) could increase the diagnostic use of fetal heart rate (fHR) variability measurements. However, signal quality may depend on factors such as maternal physical activity, posture, and bedside versus ambulatory setting. METHODS: Sixty-three healthy women wore the monitor at home and 42 women during a hospital stay. All women underwent a posture experiment, and all home and 13 hospital participants wore the monitor during daytime and nighttime...
November 4, 2016: Fetal Diagnosis and Therapy
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