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Prenatal Diagnosis

Rachel A Pilliod, David R Pettersson, Thomas Gibson, Ladawna Gievers, Amanda Kim, Roya Sohaey, Karen Y Oh, Brian L Shaffer
BACKGROUND: Absence of the CSP on prenatal imaging is historically associated with additional anomalies, however recently cases of isolated, absent CSP have also been identified. This study seeks to assess the accuracy of prenatal imaging in evaluating isolated, absent CSP and to describe the spectrum of clinical outcomes. METHODS: This is a retrospective observational study of all prenatally diagnosed absent CSP cases between 2011 and 2016 at our institution. Cases with additional structural parenchymal abnormalities were excluded...
March 13, 2018: Prenatal Diagnosis
Camille Sauvageot, Jean-Michel Faure, Eve Mousty, Anaïg Flandrin, Dominique Forgues, Olivier Prodhomme, Florent Fuchs
OBJECTIVES: The aim of this study was to evaluate the prevalence, the prenatal and postnatal evolution of isolated fetal splenic cysts. METHODS: All cases of suspected fetal splenic cyst or abdominal unidentified cyst discovered during routine ultrasound scan, from 2007 to 2017, and referred to a French tertiary care Center, were retrospectively collected. For each case, several prenatal parameters and postnatal evolution were reported. RESULTS: Among 5450 cases of fetal anomalies, 14 patients (0...
March 12, 2018: Prenatal Diagnosis
Shaobin Lin, Shanshan Shi, Yi Zhou, Yuanjun Ji, Peizhi Huang, Jianzhu Wu, Baojiang Chen, Yanmin Luo
OBJECTIVE: To investigate the detection rate of 16p11.2 recurrent microdeletions in fetuses with abnormal ultrasound findings and determine the common abnormal ultrasound findings in fetuses carrying the deletion. METHODS: This study reviewed 2262 consecutive fetuses with abnormal ultrasound findings who underwent prenatal chromosomal microarray analysis between October 2014 and December 2016. Cases carrying the 16p11.2 recurrent microdeletion were further genetically analyzed, and their clinical features were reviewed...
March 7, 2018: Prenatal Diagnosis
Marie Laterre, Pierre Bernard, Miika Vikkula, Yves Sznajer
OBJECTIVE: The aim of this study was to outline the disease etiology in a cohort of fetuses prenatally diagnosed with non-immune hydrops fetalis (NIHF). METHODS: Based on a literature review we defined precise criteria to select the NIHF cases. Those were further classified into 14 categories. To complete this first step, a literature review was performed using homogeneous criteria to compare our results. RESULTS: Over the 10-year period, 102 fetuses were diagnosed with NIHF and included in the analysis...
March 2, 2018: Prenatal Diagnosis
Ilse Haveman, Hanneke Fleurke-Rozema, Eduard J H Mulder, Manon Benders, Gideon du Marchie Sarvaas, Henriette Ter Heide, Roel H de Heus, Caterina M Bilardo
OBJECTIVES: There is evidence that in fetuses with congenital heart defects (CHD) head growth is affected. However, scanty data is available on longitudinal growth patterns of other biometric parameters such as abdominal circumference (AC) and femur length (FL). Aim was to evaluate growth patterns in fetuses with isolated CHD diagnosed prenatally in different categories of lesions. METHODS: Fetuses with isolated CHD seen between 2008 and 2013 at the Fetal Medicine Unit of two tertiary referral centers were retrospectively included in the study...
March 1, 2018: Prenatal Diagnosis
Ka Wang Cheung, Carman Wing Sze Lai, Christopher C Y Mak, Amelia Pui Wah Hui, Brian H Y Chung, Anita Sik Yau Kan
No abstract text is available yet for this article.
February 23, 2018: Prenatal Diagnosis
Cory M Resnick, Tessa D Kooiman, Carly E Calabrese, David Zurakowski, Bonnie L Padwa, Maarten J Koudstaal, Judy A Estroff
BACKGROUND: Infants with Robin sequence (RS) may present with airway compromise at delivery. Prenatal diagnosis would improve preparation and postnatal care. The purpose of this study was to devise a predictive algorithm for RS based on fetal magnetic resonance imaging (MRI). METHODS: Retrospective case-control study including fetal MRIs from 2002-2017. Inclusion criteria were: (1) MRI of adequate quality, (2) live-born infant, and (3) postnatal evaluation. Subjects were grouped based on postnatal diagnosis: (1) RS (micrognathia, glossoptosis, airway obstruction), (2) micrognathia without airway obstruction ("micrognathia"), (3) cleft lip and palate ("CLP"), and (4) gestational-age-matched controls...
February 19, 2018: Prenatal Diagnosis
Yi Zhang, Linhuan Huang, Xuan Huang, Zhiming He, Shaobin Lin, Ye Wang, Lin Li, Yanmin Luo, Qun Fang
OBJECTIVE: To investigate the types of cardiovascular anomalies and the results of invasive prenatal diagnosis in twin fetuses. METHODS: A total of 298 fetuses in 149 twin pairs were enrolled, in which 1 or 2 fetuses of a twin pair had cardiovascular anomalies. Prenatal diagnosis was performed on 290 fetuses of 149 twin pairs, including 150 monochorionic diamniotic (MCDA) fetuses (79 pairs) and 140 dichorionic diamniotic (DCDA) fetuses (70 pairs). G-banding karyotyping and/or chromosomal microarray analysis (CMA) were performed...
February 19, 2018: Prenatal Diagnosis
Nadine Hahner, Bienvenido Puerto, Miriam Perez-Cruz, Catarina Policiano, Elena Monterde, Fatima Crispi, Eduard Gratacos, Elisenda Eixarch
OBJECTIVES: To perform a comprehensive assessment of cortical development in fetuses with isolated non-severe ventriculomegaly (INSVM) by neurosonography. METHODS: We prospectively included 40 fetuses with INSVM and 40 controls. INSVM was defined as atrial width between 10.0 and 14.9mm without associated malformation, infection or chromosomal abnormality. Cortical development was assessed by neurosonography at 26 and 30 weeks of gestation measuring depth of selected sulci and applying a maturation scale from 0 (no appearance) to 5 (maximally developed) of main sulci and areas...
February 19, 2018: Prenatal Diagnosis
Xuelei Li, Zhongping Mu, Xu Li, Zongjie Weng
BACKGROUND: Anomalous origin of the pulmonary arteries is a rare congenital pulmonary vascular malformation, that includes unilateral absence of the pulmonary artery (UAPA), anomalous origin of unilateral pulmonary artery (AOPA) and left pulmonary artery sling (LPAS). METHODS: We analyze 15 cases of fetal pulmonary artery abnormalities from 2011 to 2017, detected via prenatal ultrasound at our center. RESULTS: The 15 cases include UAPA (five), AOPA (six), and LPAS (four)...
February 16, 2018: Prenatal Diagnosis
Lisa Hui, Mary Norton
Any screening approach, including with cell-free DNA, will have an inferior detection rate compared with 100% diagnostic testing with chromosomal microarrays. Cell-free DNA-based screening, however, should not be seen as a threat to informed choice or maximising the benefits of diagnostic testing. Screening methods have become so much better that more women are now comfortable relying on such screening and do not need the certainty of a diagnostic test. This has not lead to a decline in detection of fetal chromosome abnormalities - in fact, we are now seeing historically high yields from prenatal screening...
February 14, 2018: Prenatal Diagnosis
Souha Saliba, Baptiste Morel, Marie Gonzales, Marie-Victoire Sénat, Lucie Guilbaud, Jean-Marie Jouannic, Marie Cassart, Catherine Garel, Eléonore Blondiaux
BACKGROUND: Our purpose was to describe and compare the cranial and extracranial abnormalities of Pfeiffer syndrome on prenatal imaging with postnatal or postmortem findings, which may help in prenatal diagnosis of Pfeiffer syndrome (PS). METHODS: Cases of fetuses with a confirmed diagnosis of PS over a 4-year period (2012-2016) were retrospectively reviewed. Prenatal imaging findings, postnatal or postmortem investigations and genetic test results were analyzed...
February 13, 2018: Prenatal Diagnosis
Nicola Persico, Francesco D'Ambrosi, Isabella Fabietti, Simona Boito, Elisa Aiello, Alessandro Bulfoni, Fabrizio Ciralli, Alessandra Kustermann, Fabio Mosca, Luigi Fedele
OBJECTIVE: To investigate sequential Doppler changes in donors and recipients before and one week after endoscopic laser for twin-to-twin transfusion syndrome (TTTS) and to examine factors that may be associated with such changes. METHODS: In TTTS pregnancies undergoing laser treatment, we examined fetal Doppler changes before and one week post-intervention. Intrauterine death rates and preoperative factors were analysed in relation to Doppler changes. RESULTS: Among 129 (85...
February 13, 2018: Prenatal Diagnosis
Aaron R Prosnitz, Monika Drogosz, Audrey C Marshall, Louise E Wilkins-Haug, Carol B Benson, Lynn A Sleeper, Wayne Tworetzky, Kevin G Friedman
OBJECTIVE: To describe the early hemodynamic changes after fetal aortic valvuloplasty (FAV) for evolving hypoplastic left heart syndrome due to mid-gestational aortic stenosis and to assess whether these early changes predict biventricular (BiV) circulation at neonatal discharge. METHOD: We retrospectively reviewed all technically successful FAV cases resulting in live birth between 2000 and 2015 (n=93, 45% BiV circulation at neonatal discharge). Paired testing methods were used to compare pre- and post-intervention measures of left ventricular hemodynamics...
February 13, 2018: Prenatal Diagnosis
Rebecca M Reimers, Heather Mason-Suares, Sarah E Little, Bryann Bromley, Emily S Reiff, Lori J Dobson, Louise Wilkins-Haug
OBJECTIVES: This study characterizes cytogenetic abnormalities with ultrasound findings to refine counseling following negative cell-free DNA (cfDNA). METHODS: A retrospective cohort of pregnancies with chromosome abnormalities and ultrasound findings was examined to determine the residual risk following negative cfDNA. Cytogenetic data was categorized as cfDNA detectable for aneuploidies of chromosomes 13, 18, 21, X, or Y or non-cfDNA detectable for other chromosome abnormalities...
February 13, 2018: Prenatal Diagnosis
Enoch Quinderé de Sá Barreto, Sérgio Cavalheiro, Herbene José Figuinha Milani, Maurício Mendes Barbosa, Edward Araujo Júnior, Luciano Marcondes Machado Nardozza, Antonio Fernandes Moron
OBJECTIVE: To establish a method to quantify the position of the cerebellum by ultrasonography in normal fetuses, fetuses with myelomeningocele (MMC), and fetuses that underwent in utero MMC repair. METHODS: Reference points identifiable on ultrasound were established. The basilar portion of the occipital bone and upper portion of the odontoid process were considered as the external and internal limits, respectively, of the level zero of a line that was designated the occipitum-dens line (ODL)...
February 10, 2018: Prenatal Diagnosis
Tom Philipp, Jefferson Terry, Michael Feichtinger, Sandra Grillenberger, Beda Hartmann, Stefan Jirecek
OBJECTIVE: The morphologic features of embryos with full trisomy 15 are described. METHOD: A total of 1195 pregnancy losses were examined embryoscopically and cytogenetically. RESULTS: Of 1173 successfully karyotyped specimens, full trisomy 15 was diagnosed cytogenetically in 59 cases (5%). All 59 trisomy 15 embryos were diagnosed cytogenetically in the group of 962 embryonic miscarriages (6%). Trisomy 15 was not registered in 171 anembryonic or yolk sac miscarriages, and no case of full trisomy 15 was observed in 62 fetal miscarriages...
February 8, 2018: Prenatal Diagnosis
Lyn S Chitty, Louanne Hudgins, Mary E Norton
No abstract text is available yet for this article.
February 8, 2018: Prenatal Diagnosis
Maela Le Lous, Imen Mediouni, Gihad Chalouhi, Laurent Salomon, Laurence Bussières, Aude Carrier, Jean-Pierre Bernard, Yves Ville
OBJECTIVES: The objective of our study was to determine the impact of laser therapy for twin-to-twin transfusion syndrome (TTTs) on subsequent pregnancies. METHODS: This was a monocentric retrospective observational study. Women treated by laser fetoscopy for TTTs were asked to answer a postal questionnaire about subsequent pregnancies. The primary outcome was fecundity (number of pregnancies and time to pregnancy). We also assessed pregnancy complications, birth weight, and gestational age at delivery...
February 8, 2018: Prenatal Diagnosis
Wang Qing, Wu Yu Rong, Jiao Xian Ting, Wu Peng Fei, Zhao Li Qing, Chen Sun, Sun Kun
OBJECTIVES: To compare the fetal echocardiographic measurements and neonatal outcome of fetuses with diagnosis of critical pulmonary stenosis (CPS/IVS) and pulmonary atresia with intact ventricular septum (PA/IVS) in order to identify the predictors of neonatal ductus dependence and the need for neonatal intervention. METHODS: 44 fetuses with a diagnosis of membranous PA/IVS or CPS/IVS referred to Shanghai Xinhua Hospital Affiliated to Shanghai Jiaotong University between June 2009 and November 2014 were respectively analyzed...
February 7, 2018: Prenatal Diagnosis
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