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Twins and prenatal diagnosis

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https://www.readbyqxmd.com/read/28872650/obstetriskt-ultraljud-och-prenatal-diagnostik-i-f%C3%A3-rsta-trimestern-tidig-uppt%C3%A3-ckt-av-kromosomavvikelser-missbildningar-och-graviditetskomplikationer-ger-f%C3%A3-rdelar
#1
Peter Malcus, Peter Conner
Prenatal first trimester fetal diagnosis in Sweden today and in the future The combined first trimester test for detection of trisomy 21 has been available in Sweden the last 10 years but the uptake among pregnant women is still less than 50% and varies largely between different regions. The non-invasive prenatal test (NIPT) has been introduced and is currently recommended to be used as a secondary test only in those women who have an increased risk following the combined test. With falling costs for NIPT and a general offer of this test as a primary screening tool to all women there is concern that the first trimester ultrasound scan will be abandoned...
August 29, 2017: Läkartidningen
https://www.readbyqxmd.com/read/28869935/fetal-aneuploidy-a-comparison-of-dichorionic-twins-and-monochorionic-twins
#2
Xiaomei Shi, Lin Li, Xuan Huang, Baojiang Chen, Yi Zhou, Qun Fang
OBJECTIVE: To assess the clinical characteristics of fetal aneuploidy between dichorionic twins (DCT) and monochorionic twins (MCT) undergoing invasive prenatal diagnosis. METHODS: Twin fetuses undergoing invasive prenatal diagnosis were enrolled in this study. All twin fetuses were classified into 2 groups according to chorionicity. The rates of fetal aneuploidy in different groups were compared. RESULT: This study included 1,714 fetuses (857 sets of twin pairs); among them, 1,190 were DCT and 524 were MCT...
September 5, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28859779/no-262-prenatal-screening-for-and-diagnosis-of-aneuploidy-in-twin-pregnancies
#3
François Audibert, Alain Gagnon
OBJECTIVE: To provide a Canadian consensus document with recommendations on prenatal screening for and diagnosis of fetal aneuploidy (e.g., Down syndrome and trisomy 18) in twin pregnancies. OPTIONS: The process of prenatal screening and diagnosis in twin pregnancies is complex. This document reviews the options available to pregnant women and the challenges specific to screening and diagnosis in a twin pregnancy. OUTCOMES: Clinicians will be better informed about the accuracy of different screening options in twin pregnancies and about techniques of invasive prenatal diagnosis in twins...
September 2017: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/28854505/impact-of-prenatal-diagnosis-of-fetus-in-fetu
#4
E K Sewell, B Massa-Buck, E I Rubio, A N Massaro, A Badillo, E Puscasiu, R Broth, T Falika-King, B Nies, A Penn
Fetus in fetu (FIF) is an extremely rare condition (1/500,000 live births) in which a fetiform structure is incorporated into the body of its twin. FIF can be a diagnostic dilemma due to its similarity to a teratoma, but identification of FIF is important for subsequent medical and surgical management. We compare two cases of fetal masses diagnosed on prenatal imaging that were later identified as FIF through further radiological, surgical, and pathologic evaluation. We use these cases to illustrate key pre- and postnatal features of FIF and highlight the benefits of prenatal detection and follow-up for postnatal management...
August 23, 2017: Journal of Neonatal-perinatal Medicine
https://www.readbyqxmd.com/read/28757935/cleft-palate-only-current-concepts
#5
L Tettamanti, A Avantaggiato, M Nardone, J Silvestre-Rangil, A Tagliabue
Cleft palate only (CPO) is one of the most common congenital malformations worldwide. The etiopathogenesis of CPO is not completely understood. Environmental factors, such as smoking, alcohol consumption, intake of drugs during pregnancy, advanced paternal age, have been demonstrated to be a risk of CPO, but conflicting results have also been published. Insufficient intake of folic acid during the pregnancy has been suggested to increase the risk for CPO. The demonstrated risk for siblings and the higher risk for monozygotic twins suggest a genetic etiopathogenesis for CPO...
January 2017: Oral & Implantology
https://www.readbyqxmd.com/read/28757753/prenatal-diagnosis-of-the-maternal-derivative-chromosome-der-15-t-y-15-q12-p13-in-a-dizygotic-twin-pregnancy
#6
Pei-Yi Chen, Jui-Hung Yen, Ching-Feng Cheng, Pao Chu Chen, Yi-Shian Li, Tzu-Ying Li, Chung-Nan Yeh, Jye-Siung Fang
Sex chromosome translocations are unique and must be considered separately from translocations between autosomes. Here, we describe the first prenatal case of one twin fetus with an unbalanced translocation between chromosome Y and chromosome 15, presenting a 46,XY,der(15)t(Y;15) karyotype. The other twin had a normal 46,XY karyotype. Cytogenetic analysis of the parental chromosomes revealed that the father had a normal 46,XY karyotype, whereas the mother exhibited a 46,XX,der(15) t(Y;15) karyotype. Thus, the proband inherited this translocation from the mother...
October 2016: Ci Ji Yi Xue za Zhi, Tzu-chi Medical Journal
https://www.readbyqxmd.com/read/28686315/pentalogy-of-cantrell-in-a-monozygotic-twin-with-a-giant-omphalocele-firmly-attached-to-the-amniotic-membrane-successful-prenatal-diagnosis-and-cesarean-delivery
#7
Tomonobu Kanasugi, Akihiko Kikuchi, Noriyuki Uesugi, Daisuke Fukagawa, Hideyuki Chida, Yuri Sasaki, Gen Haba, Chizuko Isurugi, Rie Oyama, Tamotsu Sugai, Toru Sugiyama
No abstract text is available yet for this article.
July 7, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28643667/can-we-perform-a-prenatal-diagnosis-of-vasa-previa-to-improve-its-obstetrical-and-neonatal-outcomes
#8
E Nohuz, E Boulay, D Gallot, D Lemery, F Vendittelli
INTRODUCTION: Vasa previa (VP) is defined as a condition in which the fetal blood vessels, unsupported by the placenta or the umbilical cord, run through the membranes of the lower uterine segment. It is associated with a high risk of stillbirth by exsanguination. This study aimed to assess the clinical context of diagnosis of VP in order to elaborate a strategy for its prenatal diagnosis and to improve its obstetrical and neonatal outcomes. MATERIAL AND METHODS: This historical cohort study covered the period from January 1, 2011 to December 31, 2015...
April 2017: Journal of gynecology obstetrics and human reproduction
https://www.readbyqxmd.com/read/28585788/-intestinal-complications-in-twin-to-twin-transfusion-syndrome-ttts-treated-by-laser-coagulation-lc
#9
A Sánchez-Galán, J L Encinas, E Antolín, A Vilanova, M Dore, P Triana, J L Bartha, M López-Santamaría
AIM OF THE STUDY: The hemodynamic imbalance due to placental vascular anastomoses in TTTS but also vascular changes generated after intrauterine treatment may lead to hypoxic-ischemic complications. Different intestinal complications in TTTS are reviewed in this paper. METHODS: Retrospective review of TTTS cases treated by laser coagulation (LC) from 2012-2015. Demographic data, fetal therapy, prenatal diagnosis (US, MRI) and perinatal outcome were recorded. We describe cases with intestinal complications and their postnatal management...
January 25, 2017: Cirugía Pediátrica: Organo Oficial de la Sociedad Española de Cirugía Pediátrica
https://www.readbyqxmd.com/read/28568170/diagnostic-accuracy-work-up-and-outcomes-of-pregnancies-with-clubfoot-detected-by-prenatal-sonography
#10
Maya Sharon-Weiner, Rivka Sukenik-Halevy, Ronnie Tepper, Ami Fishman, Tal Biron-Shental, Ofer Markovitch
OBJECTIVE: To assess diagnostic accuracy, related findings, and outcomes of fetuses with clubfoot. METHODS: Sonographic characteristics, pregnancy work-up, and postnatal outcomes were evaluated in 109 fetuses with clubfoot. RESULTS: Among 40 320 prenatal ultrasound anomaly scans, clubfoot was diagnosed in 150 (0.37%). Analysis included 108 pregnancies (72%) with 109 fetuses. Bilateral clubfoot was diagnosed in 51/109 (46.7%) fetuses and unilateral in 58/109 (53...
May 31, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28484895/diagnosis-of-umbilical-cord-entanglement-in-a-monochorionic-diamniotic-twin-pregnancy-with-spontaneous-septostomy-of-the-dividing-membranes-using-dual-gate-doppler-imaging
#11
Ayumu Ito, Masahiko Nakata, Ayako Oji, Mayumi Takano, Nahomi Umemura, Sumito Nagasaki, Toshimitsu Maemura, Mineto Morita
Umbilical cord entanglement is the leading cause of fetal mortality in monoamniotic twin pregnancies and a pseudo monoamniotic environment. Published methods for detecting this complication include color Doppler and pulsed Doppler sonography; however, no method provides an absolute diagnosis. In this case, we report the diagnosis of umbilical cord entanglement using dual-gate Doppler imaging. A 35-year-old woman was referred to our hospital at 28 weeks of gestation for prenatal management because of diagnosis of a monochorionic diamniotic twin pregnancy with spontaneous septostomy of the dividing membranes...
May 8, 2017: Journal of Medical Ultrasonics
https://www.readbyqxmd.com/read/28403926/prenatal-microarray-comparative-genomic-hybridization-experience-from-the-two-first-years-of-activity-at-the-lyon-university-hospital
#12
L Pons, M Till, E Alix, C Abel, D Boggio, A Bordes, J Caloone, F C Raskin, N Chatron, M-P Cordier, A Fichez, A Labalme, C Lajeunesse, É Liaras, M Massoud, J Miribel, E Ollagnon, C Schluth-Bolard, A Vichier-Cerf, P Edery, J Attia, C Huissoud, R C Rudigoz, J Massardier, P Gaucherand, D Sanlaville
OBJECTIVES: This study aims to describe how microarray comparative genomic hybridization (aCGH) has shifted to become a prenatal diagnosis tool at the Lyon university-hospital. MATERIALS AND METHODS: This retrospective study included all patients who were referred in the 3 pluridisciplinary centers for prenatal diagnosis of the Lyon university-hospital and who received a prenatal aCGH between June 2013 and June 2015. aCGH was systematically performed in parallel with a karyotype, using the PréCytoNEM array design...
March 2017: Journal of gynecology obstetrics and human reproduction
https://www.readbyqxmd.com/read/28397216/-prenatal-diagnosis-of-22q11-microdeletion-syndrome
#13
Meiying Cai, Hailong Huang, Na Lin, Nan Guo, Xiaoqing Wu, Linjuan Su, Liangpu Xu
OBJECTIVE: To establish a method for the prenatal diagnosis of 22q11 microdeletion syndrome. METHODS: BACs-on-Beads (BoBs) and fluorescence in situ hybridization (FISH) were performed on a fetus for whom amniotic chromosomal culturing has failed and a pair of twin fetuses suspected for 22q11 deletion syndrome. RESULTS: 22q11 microdeletion was detected in all 3 fetuses by prenatal BoBs as well as FISH, with only one red signal detected at the DiGeorge/VCFS N25 site and two green signals on the 22q13...
April 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28370096/recipient-twin-circular-shunt-physiology-before-fetal-laser-surgery-survival-and-risks-for-postnatal-right-ventricular-outflow-tract-obstruction
#14
Jay D Pruetz, Jodie K Votava-Smith, Hikmat R Chmait, Lisa M Korst, Arlyn Llanes, Ramen H Chmait
OBJECTIVES: To evaluate risk for congenital heart disease (CHD) in recipient twins with circular shunt physiology (CSP). METHODS: This prospective study enrolled twin-twin transfusion syndrome (TTTS) cases from 2006 to 2015. Fetal echocardiography (FE) was performed before laser surgery when cardiac involvement was suspected. Diagnosis of recipient twin CSP required tricuspid and pulmonary regurgitation, right ventricular dysfunction, and flow reversal in the ductus arteriosus...
April 3, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28314387/twin-pregnancy-complicated-by-esophageal-atresia-duodenal-atresia-gastric-perforation-and-hypoplastic-left-heart-structures-in-one-twin-a-case-report-and-review-of-the-literature
#15
REVIEW
Mohamad K Abou Chaar, Mariana L Meyers, Bethany D Tucker, Henry L Galan, Kenneth W Liechty, Timothy M Crombleholme, Ahmed I Marwan
BACKGROUND: The antenatal diagnosis of a combined esophageal atresia without tracheoesophageal fistula and duodenal atresia with or without gastric perforation is a rare occurrence. These diagnoses are difficult and can be suspected on ultrasound by nonspecific findings including a small stomach and polyhydramnios. Fetal magnetic resonance imaging adds significant anatomical detail and can aid in the diagnosis of these complicated cases. Upon an extensive literature review, there are no reports documenting these combined findings in a twin pregnancy...
March 18, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28299660/etv6-runx1-acute-lymphoblastic-leukaemia-in-identical-twins
#16
Anthony M Ford, Mel Greaves
Acute leukaemia is the major subtype of paediatric cancer with a cumulative risk of 1 in 2000 for children up to the age of 15 years. Childhood acute lymphoblastic leukaemia (ALL) is a biologically and clinically diverse disease with distinctive subtypes; multiple chromosomal translocations exist within the subtypes and each carries its own prognostic relevance. The most common chromosome translocation observed is the t(12;21) that results in an in-frame fusion between the first five exons of ETV6 (TEL) and almost the entire coding region of RUNX1 (AML1)...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28251228/conjoined-twins-in-a-triplet-pregnancy-a-rare-obstetrical-dilemma
#17
Huseyin C Ozcan, Mete G Ugur, Aynur Mustafa, Irfan Kutlar
Conjoined twins are derived from division of a single fertilized ovum after the twelfth day of fertilization. Triplet conjoined twin is considered as a unique phenomenon that is accompanied with a wide variety of congenital abnormalities and also hazardous consequences for both fetuses and parents. We present an extremely rare case of conjoined twins in a triplet pregnancy with symmetric thoracoomphalopagus that was diagnosed in prenatal period by using ultrasound scanning and MRI. In triplet pregnancies, we should be aware about the possibility of conjoined twins...
March 2017: Saudi Medical Journal
https://www.readbyqxmd.com/read/28231064/three-dimensional-ultrasound-for-prenatal-assessment-of-conjoined-twins-additional-advantages
#18
Tuangsit Wataganara, Pornpimol Ruangvutilert, Prasert Sunsaneevithayakul, Kusol Russameecharoen, Katika Nawapun, Nisarat Phithakwatchara
Conjoined twins are a rare, but serious, complication of monozygotic twins. Early prenatal diagnosis of conjoined twins is increasingly made with transvaginal ultrasound and color Doppler studies. Most prenatally diagnosed conjoined twins are terminated due to the high perinatal mortality, but advancement in pediatric surgery has allowed for successful postnatal separation in a small number of cases, and some parents may consider this option over termination of pregnancy. It is important to get a detailed prenatal ultrasound for the site and extent of fusion for an accurate categorization...
August 28, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/28153653/prenatal-diagnosis-and-management-of-vasa-previa%C3%A2-in-twin-pregnancies-a%C3%A2-case-series-and%C3%A2-systematic-review
#19
REVIEW
Eric Jauniaux, Yaakov Melcer, Ron Maymon
BACKGROUND: Twin pregnancies are at higher risks of velamentous cord insertion and vasa previa. In vitro fertilization is an additional risk factor of abnormal cord insertion and thus the incidence of vasa previa is likely to increase over the next decades. OBJECTIVE: We sought to evaluate the role of ultrasound imaging in optimizing the management of twins diagnosed with vasa previa antenatally. STUDY DESIGN: We searched our database for twin pregnancies diagnosed with vasa previa and managed antenatally using measurements of cervical length and performed a systematic review of articles that correlated prenatal diagnosis of vasa previa in twins and pregnancy outcome...
June 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28150444/the-influence-of-chorionicity-and-gestational-age-at-single-fetal-loss-on-the-risk-of-preterm-birth-in-twin-pregnancies-analysis-of-the-stork-multiple-pregnancy-cohort
#20
Francesco D'Antonio, Basky Thilaganathan, Tiran Dias, Asma Khalil
BACKGROUND: Single intrauterine death (sIUD) in twin pregnancies is associated with a significant risk of co-twin demise and preterm birth (PTB), especially in monochorionic (MC) twins. However, it is yet to be established whether the gestational age at loss may influence the pregnancy outcome. The aim of this study was to explore the risk of PTB according to the gestational age at the diagnosis of sIUD. METHODS: A cohort study of all twin pregnancies from a large regional network of 9 hospitals over a ten-year period...
February 2, 2017: Ultrasound in Obstetrics & Gynecology
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