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Amniotic fluid ultrasound

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https://www.readbyqxmd.com/read/28805615/prenatal-diagnosis-of-holoprosencephaly-associated-with-smith-lemli-opitz-syndrome-slos-in-a-46-xx-fetus
#1
André Travessa, Patrícia Dias, Pedro Rocha, Ana Berta Sousa
OBJECTIVE: To show the importance of measuring cholesterol precursor levels in amniotic fluid in all pregnancies with ultrasound features (such as holoprosencephaly) suggestive of Smith-Lemli-Opitz syndrome (SLOS), after exclusion of chromosomal anomalies. CASE REPORT: A 28-year-old woman, gravida 1 para 0, performed chorionic villus sampling for fetal karyotyping at 13 weeks of gestation due to positive combined first trimester screening in a fetus with increased nuchal translucency and suspected holoprosencephaly...
August 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28791262/clinical-characteristics-of-pregnancies-complicated-by-congenital-myotonic-dystrophy
#2
Cheonga Yee, Suk-Joo Choi, Soo-Young Oh, Chang-Seok Ki, Cheong-Rae Roh, Jong-Hwa Kim
OBJECTIVE: Although the conventional prevalence of myotonic dystrophy is 1:8,000, the prevalence in Korean population was recently reported as 1:1,245. With higher domestic result than expected, we aimed to investigate the clinical characteristics of pregnancies complicated by congenital myotonic dystrophy in our institution. METHODS: We have reviewed 11 paired cases of neonates diagnosed with congenital myotonic dystrophy and their mothers between July 2004 and May 2014, with clinical features including maternal history of infertility, prenatal ultrasonographic findings, and neonatal outcomes...
July 2017: Obstetrics & Gynecology Science
https://www.readbyqxmd.com/read/28790549/genetic-counseling-and-prenatal-diagnosis-of-triploidy-during-the-second-trimester-of-pregnancy
#3
Milenko Kolarski, Begzudin Ahmetovic, Maja Beres, Radomir Topic, Vedran Nikic, Ivana Kavecan, Semin Sabic
INTRODUCTION: Triploidy is a lethal chromosomal numeric abnormality, characterized on extra haploid set of chromosomes. It occurs in 2 to 3% of conceptuses and accounts for approximately 20% of chromosomally abnormal first-trimester miscarriages. As such, triploidy is estimated to occur in 1 of 3,500 pregnancies at 12 weeks', 1 in 30,000 at 16 weeks', and 1 in 250,000 at 20 weeks' gestation. CASE REPORT: We present a case of second-trimester triploidy diagnosed prenataly at our center...
April 2017: Medical Archives
https://www.readbyqxmd.com/read/28753736/can-quantity-of-amniotic-fluid-reliably-predict-postnatal-renal-function-in-boys-with-posterior-urethral-valves-a-decision-curve-analysis
#4
Luke Harper, Alice Waubant, Julien Vignes, Sara Amat, Eric Dobremez, Yan Lefevre, Cyril Ferdynus
OBJECTIVE: Prenatal management of male fetuses with suspected posterior urethral valves depends on reliable markers for postnatal long-term renal function. Whether ultrasound parameters, including the presence or absence of oligohydramnios, are reliable remains the subject of debate. We decided to evaluate the reliability of quantity of amniotic fluid to predict postnatal renal function using decision curve analysis (DCA), a method for evaluating the clinical utility of a diagnostic test...
July 28, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28743210/fetal-middle-cerebral-artery-doppler-in-late-term-pregnancy-a-predicting-factor-for-failed-induction-of-labor
#5
Silvia Vannuccini, Michela Torricelli, Caterina Bocchi, Filiberto M Severi, Mariarosaria Di Tommaso, Felice Petraglia
PURPOSE: To study the role of fetal middle cerebral artery (MCA) Doppler evaluated prior to induction of labor in late-term pregnancies, in order to build an ultrasound-based predictive model for failed induction. MATERIALS AND METHODS: A prospective cohort study on 250 nulliparous women carrying singleton late-term pregnancies was conducted. Prior to induction, each patient underwent to an ultrasound evaluation for fetal MCA Doppler. Additional ultrasound parameters such as cervical length (CL), membranes thickness, amniotic fluid index, placental location, and estimated fetal weight (EFW) were collected...
July 25, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28730376/lower-urinary-tract-obstruction-fetal-intervention-based-on-prenatal-staging
#6
Rodrigo Ruano, Timothy Dunn, Michael C Braun, Joseph R Angelo, Adnan Safdar
The authors present an overview of lower urinary tract obstruction (LUTO) in the fetus with a particular focus on the insult to the developing renal system. Diagnostic criteria along with the challenges in estimating long-term prognosis are reviewed. A proposed prenatal LUTO disease severity classification to guide management decisions with fetal intervention to maintain or salvage in utero and neonatal pulmonary and renal function is also discussed. Stage I LUTO (mild form) is characterized by normal amniotic fluid index after 18 weeks, normal kidney echogenicity, no renal cortical cysts, no evidence of renal dysplasia, and favorable urinary biochemistries when sampled between 18 and 30 weeks; prenatal surveillance is recommended...
July 21, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28710882/mid-trimester-preterm-premature-rupture-of-membranes-pprom-etiology-diagnosis-classification-international-recommendations-of-treatment-options-and-outcome
#7
REVIEW
Michael Tchirikov, Natalia Schlabritz-Loutsevitch, James Maher, Jörg Buchmann, Yuri Naberezhnev, Andreas S Winarno, Gregor Seliger
Mid-trimester preterm premature rupture of membranes (PPROM), defined as rupture of fetal membranes prior to 28 weeks of gestation, complicates approximately 0.4%-0.7% of all pregnancies. This condition is associated with a very high neonatal mortality rate as well as an increased risk of long- and short-term severe neonatal morbidity. The causes of the mid-trimester PPROM are multifactorial. Altered membrane morphology including marked swelling and disruption of the collagen network which is seen with PPROM can be triggered by bacterial products or/and pro-inflammatory cytokines...
July 15, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/28708574/4d-ultrasound-study-of-fetal-movement-early-in-the-second-trimester-of-pregnancy
#8
Suraphan Sajapala, Mohamed Ahmed Mostafa AboEllail, Kenji Kanenishi, Nobuhiro Mori, Genzo Marumo, Toshiyuki Hata
AIM: To assess the frequency of fetal movement and reproducibility of fetal movement counting in normal singleton pregnancies early in the second trimester using four-dimensional (4D) ultrasound. METHODS: Twenty-nine singleton pregnancies were studied for 15 min employing 4D ultrasound at 14-16 (19 cases) and 17-19 (10 cases) weeks of gestation. The frequencies of eight fetal movements (head anteflexion, head retroflexion, body rotation, hand to face movement, general movement, isolated arm movement, isolated leg movement and mouthing movement) were evaluated...
August 28, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/28656648/prenatal-incision-of-ureterocele-causing-bladder-outlet-obstruction-a-multicenter-case-series
#9
Gihad Chalouhi, Anne-Maude Morency, Roland De Vlieger, José Maria Martinez, Thomas Blanc, Ryan Hodges, Alexandra Gueneuc, Greg Ryan, Jan Deprest, Eduard Gratacos, Yves Ville
We reviewed data from a cohort of fetuses with ureterocele diagnosed and operated prenatally in four fetal therapy centers. Inclusion criteria were: (1)ureterocele confirmed on detailed fetal ultrasound examination, (2)absence of additional fetal malformations (3)fetal intervention to decompress the ureterocele with local institutional review boards' approval. Data on sonographic follow-up, obstetrical, neonatal outcome and postnatal evaluation were collected. Ten cases of prenatally treated ureterocele are described...
June 27, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28635180/renal-vascularization-indexes-and-fetal-hemodynamics-in-fetuses-with-growth-restriction
#10
Giovana Farina Doro, Janaína Campos Senra, Agatha Sacramento Rodrigues, Seizo Miyadahira, Renata Lopes Ribeiro, Rossana Pulcinelli Vieira Francisco, Lisandra Stein Bernardes
OBJECTIVE: To identify the correlation between the renal vascularization index (VI), the flow index (FI) and the vascularization and flow index (VFI) and placental and fetal hemodynamics in fetuses with growth restriction. METHOD: Bidimensional ultrasound and three-dimensional power Doppler with the VOCAL technique were used to determine the renal vascular indexes and fetal and placental hemodynamics in fetuses below the 10th percentile for fetal weight. Partial correlation analysis (controlled for renal depth and gestational age) was performed...
June 20, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28611924/pcs-mva-syndrome-caused-by-an-alu-insertion-in-the-bub1b-gene
#11
Maki Kato, Takema Kato, Eriko Hosoba, Masanao Ohashi, Midori Fujisaki, Mamoru Ozaki, Masatoshi Yamaguchi, Hiroshi Sameshima, Hiroki Kurahashi
We report a case of premature chromatid separation/mosaic variegated aneuploidy syndrome identified by microcephaly on fetal ultrasound and confirmed by cytogenetic analysis of amniotic fluid. Initial mutational analysis of the entire coding region of the BUB1B gene failed to identify any causative mutations. However, further analysis revealed a known compound heterozygous mutation in the upstream region of this gene and a novel Alu insertion mutation in the intron.
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28604946/-application-of-chromosomal-microarray-analysis-in-prenatal-diagnosis-for-fetal-abnormalities-detected-by-ultrasonography
#12
Ting Hu, Jiamin Wang, Zhu Zhang, Hongmei Zhu, Hongqian Liu, Xuemei Zhang, Haixia Zhang, Ze Du, Lingping Li, He Wang, Shanling Liu
OBJECTIVE: To analyze the outcome of chromosomal microarray analysis (CMA) in prenatal diagnosis for fetal abnormalities detected by ultrasonography. METHODS: Amniotic fluid samples from 477 pregnancies with abnormal ultrasound findings but without common aneuploidies were detected by CMA with Affymetrix CytoScan 750K arrays. The results were analyzed with ChAS v3.0 software. RESULTS: Among the 477 samples, 24 (5.03%) were detected with pathogenic copy number variations (pCNVs) by CMA...
June 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28600890/pilot-study-of-a-software-supported-protocol-for-second-trimester-ultrasound-screening
#13
Thierry Bultez, Jean-Pierre Bernard, Ulrike Metzger, Yves Ville, Laurent Julien Salomon
OBJECTIVES: To evaluate the feasibility and impact of using a software-supported protocol for routine second-trimester ultrasound scanning. METHODS: We conducted a comparative observational study of 2 sets of 25 randomly selected normal routine second-trimester examinations performed by the same expert sonographer before and 1 year after the introduction of a software-supported protocol. The scanning protocol was identical during both periods and conformed to International Society of Ultrasound in Obstetrics and Gynecology guidelines...
June 10, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28600484/perinatal-case-of-fatal-simpson-golabi-behmel-syndrome-with-hyperplasia-of-seminiferous-tubules
#14
Nives Zimmermann, Jerzy Stanek
BACKGROUND Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked recessive syndrome characterized by fetal overgrowth. CASE REPORT We present a case of a male infant with SGBS. Abnormal prenatal ultrasound (including congenital diaphragmatic hernia) prompted microarray testing of amniotic fluid cells, which showed deletion on chromosome Xq26.2 affecting the glypican-3 gene consistent with SGBS type I. The infant died six hours after birth and at autopsy showed features of SGBS, including macrosomia, organomegaly, diaphragmatic hernia with consequent pulmonary hypoplasia, cleft palate, large tongue with a midline groove, a supernumerary nipple, Meckel's diverticulum, and abnormal phalanges...
June 10, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28600059/molecular-genetic-characterization-of-a-prenatally-detected-de-novo-interstitial-deletion-of-chromosome-2q-2q31-1-q32-1-encompassing-hoxd13-znf385b-and-znf804a-associated-with-syndactyly-and-increased-first-trimester-nuchal-translucency
#15
Chih-Ping Chen, Chen-Ju Lin, Yen-Ni Chen, Schu-Rern Chern, Shin-Wen Chen, Shih-Ting Lai, Peih-Shan Wu, Li-Feng Chen, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis and molecular genetic characterization of a de novo interstitial deletion of 2q (2q31.1-q32.1) and discuss the genotype-phenotype correlation. CASE REPORT: A 34-year-old, primigravid woman was referred to the hospital at 20 weeks of gestation for genetic counseling because of a prenatally detected de novo interstitial deletion of chromosome 2q (2q31.1-q32.1). She underwent amniocentesis at 17 weeks of gestation because of advanced maternal age and an increased first-trimester nuchal translucency (NT) thickness of 3...
June 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28600056/molecular-genetic-characterization-of-a-prenatally-detected-1-484-mb-xq13-3-q21-1-duplication-encompassing-atrx-and-a-literature-review-of-syndromic-intellectual-disability-and-congenital-abnormalities-in-males-with-a-duplication-at-xq13-3-q21-1
#16
Chih-Ping Chen, Hoi-Kin Yip, Liang-Kai Wang, Schu-Rern Chern, Shin-Wen Chen, Shih-Ting Lai, Peih-Shan Wu, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis of dup(X)(q13.3q21.1) in a male fetus and molecular genetic analysis in three generations and a literature review of syndromic intellectual disability and congenital abnormalities in males with a duplication at Xq13.3-q21.1. CASE REPORT: A 35-year-old, primigravid woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age. The woman and her mother were phenotypically normal, and there was no intellectual disability in the maternal family...
June 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28590142/intra-amniotic-soluble-endoglin-impairs-lung-development-in-neonatal-rats
#17
Santhosh T Somashekar, Ibrahim Sammour, Jian Huang, Juan Dominguez-Bendala, Ricardo Pastori, Silvia Alvarez-Cubela, Eneida Torres, Shu Wu, Karen C Young
Soluble endoglin (sENG) is increased in the amniotic fluid of mothers with pre-eclampsia and chorioamnionitis. Preterm infants born to mothers with these disorders have an increased risk of aberrant lung development. Whether this increased risk is secondary to elevated sENG levels is unclear. The objective of this study was to determine whether intrauterine exposure to an adenovirus over-expressing sENG impairs neonatal lung angiogenesis by modulating lung eNOS signaling. Pregnant Sprague-Dawley rats were randomly assigned to receive ultrasound guided intra-amniotic injections of adenovirus over-expressing sENG (Ad-sENG) or control adenovirus (Ad-control) on embryonic day 17 (E17)...
June 7, 2017: American Journal of Respiratory Cell and Molecular Biology
https://www.readbyqxmd.com/read/28580571/ultrasound-guided-balloon-catheterisation-a-new-method-of-fetal-lower-urinary-tract-obstruction-management
#18
Marzena Dębska, Adam Koleśnik, Piotr Kretowicz, Anna Olędzka, Piotr Gastoł, Romuald Dębski
OBJECTIVES: Fetal lower urinary tract obstruction (LUTO), most often associated with presence of posterior urethral valves, poses high risk of perinatal mortality or postnatal renal failure. Looking for a method of causative treatment we have devel-oped a technique of fetal urethroplasty with a coronary angioplasty balloon catheter inserted under an ultrasonographic guidance via an 18-gauge needle introduced transabdominally to fetal bladder. MATERIAL AND METHODS: We have used this procedure in three women with singleton pregnancies (two primiparas and one multipara, 32-35 years of age), diagnosed with fetal megacystis at 12-16 weeks of gestation...
2017: Ginekologia Polska
https://www.readbyqxmd.com/read/28565842/detection-of-trisomies-13-18-and-21-using-non-invasive-prenatal-testing
#19
Rong Qiang, Na Cai, Xiaobin Wang, Lin Wang, Ke Cui, Wei Wang, Xiang Wang, Xu Li
The clinical performance of non-invasive prenatal testing (NIPT) in the Down's syndrome screening based on 1,901 pregnant women in a Chinese hospital was investigated. This was a retrospective analysis of NIPT study in singleton pregnancy (n=1,901). The NIPT test is offered routinely as a prenatal screening test for common fetal aneuploidies, including trisomy 13 (T13), T18 and T21 to pregnant women with risk factors of one or more anomalies. Maternal peripheral blood (5 ml) was collected in an ethylenediaminetetraacetic acid (EDTA) tube at a gestational age of 12+0 to 32+6 weeks...
May 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28556937/abnormal-fetal-findings-associated-with-a-global-sphericity-index-of-the-4-chamber-view-below-the-5th-centile
#20
Greggory R DeVore, Gary Satou, Mark Sklansky
OBJECTIVES: The purpose of this study was to evaluate the global sphericity index (GSI) of the 4-chamber view and correlate the results with abnormal ultrasound findings. METHODS: The epicardial end-diastolic basal-apical length (BAL) and transverse length (TL) of the 4-chamber view were measured to compute the GSI (BAL/TL) in 200 control fetuses between 20 and 40 weeks' gestation. Three hundred study fetuses were prospectively examined between 17 and 39 weeks' gestation...
May 30, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
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