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Fetal Diagnosis and Therapy

Linda J E Meertens, Hubertina C J Scheepers, Sander M J van Kuijk, Robert Aardenburg, Ivo M A van Dooren, Josje Langenveld, Annemieke M van Wijck, Iris M Zwaan, Marc E A Spaanderman, Luc J M Smits
INTRODUCTION: This study assessed the external validity of all published first trimester prediction models for the risk of preeclampsia (PE) based on routinely collected maternal predictors. Moreover, the potential utility of the best-performing models in clinical practice was evaluated. MATERIAL AND METHODS: Ten prediction models were systematically selected from the literature. We performed a multicenter prospective cohort study in the Netherlands between July 1, 2013, and December 31, 2015...
July 18, 2018: Fetal Diagnosis and Therapy
Daisuke Katsura, Yuichiro Takahashi, Shigenori Iwagaki, Rika Chiaki, Kazuhiko Asai, Masako Koike, Ryuhei Nagai, Shunsuke Yasumi, Madoka Furuhashi
No abstract text is available yet for this article.
July 13, 2018: Fetal Diagnosis and Therapy
Tullio Ghi, Andrea Dall'Asta, Herbert Valensise
The recent demonstration of the effectiveness of low-dose aspirin administered from the first trimester in the prevention of preeclampsia will probably lead to establishing and radicating the "inverted pyramid" screening model for preeclampsia. Such a multiparametric approach for the screening of preeclampsia in the first trimester, albeit highly sensitive in identifying early-onset disease, is poor at screening the forms of preeclampsia occurring close to term. Late-onset preeclampsia is 3 to 6 times more common than early-onset preeclampsia and currently represents the major determinant of maternal morbidity related to hypertensive disorders of the pregnancy...
July 12, 2018: Fetal Diagnosis and Therapy
Marialuigia Spinelli, Carmine Sica, Fabio Ghezzi, Antonella Cromi, Daniel Surbek, Luigi Raio
INTRODUCTION: Anomalies in cortical development are often associated with an adverse outcome, but prenatal diagnosis is often impeded by the limited knowledge about normal sulci biometries throughout fetal brain development. Our aim was to provide two-dimensional ultrasonographical (2D US) nomograms of the depth of the Sylvian fissure (SF) and insular lobe (IL), as well as of the SF ratio throughout gestation in a large number of fetuses. MATERIALS AND METHODS: This was a prospective cross-sectional study of 329 normal singleton pregnancies...
July 12, 2018: Fetal Diagnosis and Therapy
Marie Cassart, Nawel Majoub, Sabine Irtan, Jean-Marie Jouannic, Hubert Ducou le Pointe, Eléonore Blondiaux, Catherine Garel
OBJECTIVE: To emphasize the need for analyzing the pelvis when a unilateral multicystic dysplastic kidney (MCDK) is observed at prenatal ultrasonography (US) because of possible associated ectopic ureteral insertion. METHODS: We performed a retrospective study including prenatal US diagnosis of unilateral MCDK and retrovesical cyst. The following data were recorded: pre- and postnatal US, magnetic resonance imaging (MRI), and voiding cystourethrography (VCUG) findings...
July 10, 2018: Fetal Diagnosis and Therapy
(no author information available yet)
No abstract text is available yet for this article.
July 5, 2018: Fetal Diagnosis and Therapy
Deborah R Berman, Kelly Walkovich, Marjorie C Treadwell
Nonimmune hydrops remains a challenge in the prenatal setting with many cases not having a clear etiology determined prior to birth. We present an unusual case of one fetus of a dichorionic twin pair presenting at 24 weeks' gestation with hydrops and fetal pancytopenia with complete absence of white cells of unknown etiology, as revealed by cordocentesis. Serial red blood cell transfusions resulted in resolution of hydrops and continuation of the pregnancy until 35 weeks' gestation. Pancytopenia was noted throughout gestation and persisted in the newborn period...
July 4, 2018: Fetal Diagnosis and Therapy
Avery C Rossidis, Heron D Baumgarten, Kendall M Lawrence, Patrick E McGovern, Ali Y Mejaddam, Haiying Li, Grace Hwang, Kathleen Young, William H Peranteau, Marcus G Davey, J William Gaynor, Alan W Flake
INTRODUCTION: We have recently developed an extra-uterine environment for neonatal development (EXTEND) capable of supporting premature fetal lambs and have been able to replicate hypoxic in utero conditions by controlling fetal oxygen delivery. In this study, we investigated the fetal mitochondrial response to hypoxia. METHODS: Eight premature fetal lambs were delivered via hysterotomy and transitioned to extra-uterine support for 3 weeks. The lambs were divided into 2 groups: normoxic fetuses which maintained physiologic oxygen delivery and hypoxic fetuses in which oxygen delivery was significantly reduced...
June 28, 2018: Fetal Diagnosis and Therapy
Karl Oliver Kagan, Vanessa Maier, Jiri Sonek, Harald Abele, Kai Lüthgens, Maximilian Schmid, Philipp Wagner, Markus Hoopmann
OBJECTIVE: To determine whether screening for trisomy 21 based on first-trimester combined screening (FTCS) with assessment of nasal bone (NB), tricuspid flow (TCF), and ductus venosus flow (DVF) results in similar false-positive rates compared to ultrasound and cell-free DNA (cfDNA) screening. METHODS: This is a subanalysis of a prospective randomized controlled trial which was performed between October 2015 and December 2016. Pregnant women with a normal first-trimester ultrasound examination at 11 to 13 weeks' gestation were randomized into two groups: (1) FTCS with assessment of the NB, TCF, and DVF (extended FTCS [eFTCS]), and (2) ultrasound + cfDNA screening...
June 25, 2018: Fetal Diagnosis and Therapy
Yannick Robert Devaud, Silvia Züger, Roland Zimmermann, Martin Ehrbar, Nicole Ochsenbein-Kölble
INTRODUCTION: The benefits of endoscopic fetal surgery are deteriorated by the high risk of iatrogenic preterm prelabor rupture of fetal membranes (iPPROM). While previous studies have reported good sealing candidates to prevent membrane rupture, the delivery of these materials to the location of membrane puncture remains unsolved. MATERIALS AND METHODS: We describe an approach to apply sealing materials onto the amnion through the fetoscopy port. We developed a device composed of an umbrella-shaped polyester coated nitinol mesh and an applicator...
June 19, 2018: Fetal Diagnosis and Therapy
Anne Bergougnoux, Jean-Marie Jouannic, Fanny Verneau, Thierry Bienvenu, Natacha Gaitch, Caroline Raynal, Emmanuelle Girodon
BACKGROUND: Cystic fibrosis (CF) can be revealed during fetal life by diverse ultrasound digestive abnormalities (USDA) such as fetal echogenic bowel or fetal intestinal loop dilatation, nonvisualization of the fetal gallbladder (NVFGB) being rarely observed in isolation. Only 6 cases of CF revealed by isolated NVFGB have been reported so far in the literature. Furthermore, recent studies suggested that this sign is of poor predictive value for CF. METHODS: We report on the results of a 6-year French tricenter study on 1,124 cases of fetal USDA for whom a comprehensive molecular study was performed for CF...
June 19, 2018: Fetal Diagnosis and Therapy
Elisa Bevilacqua, Jacques C Jani, Alexandra Letourneau, Silvia F Duiella, Pascale Kleinfinger, Laurence Lohmann, Serena Resta, Teresa Cos Sanchez, Jean-François Fils, Marilyn Mirra, Alexandra Benachi, Jean-Marc Costa
OBJECTIVES: To evaluate the failure rate and performance of cell-free DNA (cfDNA) testing, mainly in terms of detection rates for trisomy 21, performed by 2 laboratories using different analytical methods. METHODS: cfDNA testing was performed on 2,870 pregnancies with the HarmonyTM Prenatal Test using the targeted digital analysis of selected regions (DANSR) method, and on 2,635 pregnancies with the "Cerba test" using the genome-wide massively parallel sequencing (GW-MPS) method, with available outcomes...
June 13, 2018: Fetal Diagnosis and Therapy
Arianne N Sweeting, Jencia Wong, Heidi Appelblom, Glynis P Ross, Heikki Kouru, Paul F Williams, Mikko Sairanen, Jon A Hyett
INTRODUCTION: Accurate early risk prediction for gestational diabetes mellitus (GDM) would target intervention and prevention in women at the highest risk. We evaluated novel biomarker predictors to develop a first-trimester risk prediction model in a large multiethnic cohort. METHODS: Maternal clinical, aneuploidy and pre-eclampsia screening markers (PAPP-A, free hCGβ, mean arterial pressure, uterine artery pulsatility index) were measured prospectively at 11-13+6 weeks' gestation in 980 women (248 with GDM; 732 controls)...
June 13, 2018: Fetal Diagnosis and Therapy
Jena L Miller, Dana M Block-Abraham, Karin J Blakemore, Ahmet A Baschat
INTRODUCTION: The insertion site of the fetoscope for laser occlusion (FLOC) treatment of twin-twin transfusion syndrome (TTTS) determines the likelihood of treatment success. We assessed a standardized preoperative ultrasound approach for its ability to identify critical landmarks for successful FLOC. METHODS: Three surgeons independently performed preoperative ultrasound and deduced the likely orientation of the intertwin membrane (ITM) and vascular equator (VE) based on the sites of the cord insertion, the lie of the donor, and the size discordance between twins...
June 6, 2018: Fetal Diagnosis and Therapy
Susan C Shelmerdine, Melissa Hickson, Neil J Sebire, Owen J Arthurs
OBJECTIVE: The aim of this study was to characterise the imaging features seen in fetuses having undergone feticide by intracardiac potassium chloride injection compared to those of non-terminated fetuses at post-mortem magnetic resonance imaging (PMMRI). METHODS: A case-control study was performed comparing PMMRI findings between two groups of patients - those having undergone feticide were matched to a control group of miscarried/stillborn fetuses. The groups were matched according to gestational age, weight, and time since death...
June 6, 2018: Fetal Diagnosis and Therapy
Ruchi Amin, Aaron Domack, Joseph Bartoletti, Erika Peterson, Britton Rink, Jennifer Bruggink, Melissa Christensen, Anthony Johnson, William Polzin, Amy J Wagner
BACKGROUND: Gastroschisis is an abdominal wall defect with increasing incidence. Given the lack of surveillance guidelines among maternal-fetal medicine (MFM) specialists, this study describes current practices in gastroschisis management. MATERIALS AND METHODS: An online survey was administered to MFM specialists from institutions affiliated with the North American Fetal Therapy Network (NAFTNet). Questions focused on surveillance timing, testing, findings that changed clinical management, and delivery plan...
May 23, 2018: Fetal Diagnosis and Therapy
Rodrigo A Mon, Ellen Mozurkewich, Marjorie C Treadwell, Deborah R Berman
We report a case of a fetus diagnosed at 28 weeks' gestation with a spontaneous prenatal hemothorax. Fetal intervention consisted of 2 thoracenteses with analysis of the pleural effusion. The pregnancy was further complicated by recurrence of the hemothorax, with subsequent mediastinal shift, hydrops, and nonreassuring antenatal testing requiring delivery at 31 weeks' gestation. Postnatal workup established the diagnoses of cutis marmorata telangiectatica congenita (CMTC) and pulmonary lymphangiectasia. The child is currently 4 years old and without any active medical issues or sequelae from the CMTC, pulmonary lymphangiectasia, or prenatal interventions...
May 23, 2018: Fetal Diagnosis and Therapy
Federica Fontanella, Leonie Duin, Phebe N Adama van Scheltema, Titia E Cohen-Overbeek, Eva Pajkrt, Mireille Bekker, Christine Willekes, Caroline J Bax, Dick Oepkes, Catia M Bilardo
OBJECTIVE: To investigate the best criteria for discriminating fetuses with isolated posterior urethral valves from those theoretically not eligible for fetal treatment because of complex megacystis, high chance of spontaneous resolution, and urethral atresia. METHODS: A retrospective national study was conducted in fetuses with megacystis detected before 17 weeks' gestation (early megacystis). RESULTS: In total, 142 cases with fetal megacystis were included in the study: 52 with lower urinary tract obstruction, 29 with normal micturition at birth, and 61 with miscellaneous syndromal associations, chromosomal and multiple structural abnormalities (complex megacystis)...
May 17, 2018: Fetal Diagnosis and Therapy
Heron D Baumgarten, Juliana S Gebb, Nahla Khalek, Julie S Moldenhauer, Mark P Johnson, William H Peranteau, Holly L Hedrick, N Scott Adzick, Alan W Flake
INTRODUCTION: Fetuses with "high-risk" sacrococcygeal teratoma (SCT) have a mortality rate of 40-50%. While fetal surgery may benefit select fetuses prior to 27 weeks' gestation, many fetuses die due to consequences of rapid tumor growth after 27 weeks. Here we report our experience applying "preemptive" delivery to fetuses who manifest signs of decompensation between 27 and 32 weeks. METHODS: A retrospective review of SCT fetuses delivered between 2010 and 2016 at ≤32 weeks' gestation was performed...
May 7, 2018: Fetal Diagnosis and Therapy
Ruben S G M Witlox, Enrico Lopriore, Monique Rijken, Frans J C M Klumper, Dick Oepkes, Jeanine M M van Klink
INTRODUCTION: The aim of this study is to evaluate long-term neurodevelopmental and respiratory outcome after fetal therapy for fetal pleural effusion, congenital cystic adenomatoid malformation, and bronchopulmonary sequestration. METHODS: Children ≥18 months of age underwent an assessment of neurologic, motor, and cognitive development. Medical records were reviewed to determine respiratory outcome. Behavioral outcome was assessed using the Child Behavioral Checklist...
May 7, 2018: Fetal Diagnosis and Therapy
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