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Twins and prenatal diagnosis

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https://www.readbyqxmd.com/read/29754139/dichorionic-twins-discordant-for-body-stalk-anomaly-a-management-challenge
#1
Rita Caldas, Cátia Rodrigues, Carla Pina, Rosete Nogueira
Body-stalk anomaly is a sporadic and rare maldevelopment disorder characterised by large abdominal wall defect, spinal deformity and rudimentary umbilical cord. It is considered a lethal condition as there are only few reports of survival but there was at least one case of long-term survival after neonatal surgery.Differential diagnosis includes isolated omphalocele or gastroschisis, short umbilical cord, amniotic band, limb body-wall complex and other polymalformative syndromes.There are few reports about the expectant prenatal management of the body stalk anomaly as the majority of prenatal diagnosed cases undergo early elective termination...
May 12, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29753922/beckwith-wiedemann-syndrome-a-population-based-study-on-prevalence-prenatal-diagnosis-associated-anomalies-and-survival-in-europe
#2
Ingeborg Barisic, Ljubica Boban, Diana Akhmedzhanova, Jorieke E H Bergman, Clara Cavero-Carbonell, Ieva Grinfelde, Anna Materna-Kiryluk, Anna Latos-Bielenska, Hanitra Randrianaivo, Natalya Zymak-Zakutnya, Ivona Sansovic, Monica Lanzoni, Joan K Morris
Beckwith Wiedemann syndrome is a complex developmental disorder characterized by somatic overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycemia, and predisposition to embryonal tumors. We present epidemiological and clinical aspects of patients with Beckwith Wiedemann syndrome diagnosed prenatally or in the early years of life, using data from EUROCAT (European Surveillance of Congenital Anomalies) registries. The study population consisted of 371 cases identified between January 1990 and December 2015 in 34 registries from 16 European countries...
May 10, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29743744/prenatal-diagnosis-of-an-acardiac-twin
#3
Jamylle Geraldo, Cesar Rodrigo Trippia, Maria Fernanda F S Caboclo, Raphael Rodrigues de Lima, Gabriel Cleve Nicolodi
No abstract text is available yet for this article.
March 2018: Radiologia Brasileira
https://www.readbyqxmd.com/read/29735854/pattern-and-outcome-of-prenatally-diagnosed-major-congenital-anomalies-at-a-nigerian-tertiary-hospital
#4
J A Akinmoladun, G I Ogbole, T A O Oluwasola
Introduction: The prevalence of major congenital anomalies (CAs) shows wide variations depending on geographical location and may range from <1% to 8% and it causes between 20% and 30% of perinatal deaths. In Nigeria, the prevalence of CAs may be underestimated with the general reliance on mostly livebirths ranging between 0.5% and 2.8% exempting cases of miscarriage and abortions. The purpose of this study was to determine the epidemiologic pattern and outcome of major CAs detected prenatally at the University College Hospital, Ibadan, Nigeria, over a 4-year period...
May 2018: Nigerian Journal of Clinical Practice
https://www.readbyqxmd.com/read/29683524/fetal-sex-determination-in-twin-pregnancies-using-cell-free-fetal-dna-analysis
#5
Miguel Milan, Emilia Mateu, David Blesa, Monica Clemente-Ciscar, Carlos Simon
OBJECTIVE(S): We sought to develop an accurate sex classification method in twin pregnancies using data obtained from a standard commercial non-invasive prenatal test. STUDY DESIGN: A total of 706 twin pregnancies were included in this retrospective analytical data study. Normalized chromosome values for chromosomes X and Y were used and adapted into a sex-score to predict fetal sex in each fetus and results were compared to the clinical outcome at birth. RESULTS: Outcome information at birth for sex chromosomes was available for 232 twin pregnancies...
April 23, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29657701/early-prenatal-diagnosis-of-parapagus-conjoined-twins
#6
Ângela Melo, Rita Dinis, António Portugal, Ana Isabel Sousa, Isabel Cerveira
Conjoined twinning occurs in 1/100 of monozygotic twins, 1/50,000 gestations and 1/250,000 live births. It is the consequence of a division event at the primitive streak stage of the human embryonic development, about 13-14 days after fertilisation, in monochorionic monoamniotic gestations. A healthy pregnant woman, Gravida 2 Para 1, was admitted into our Fetal Medicine Unit to perform the first trimester ultrasound. A diagnosis of conjoined parapagus twinning based on ultrasound features was made at 11 weeks of gestation, and the couple decided to terminate the pregnancy...
March 28, 2018: Clinics and Practice
https://www.readbyqxmd.com/read/29652998/-application-of-quantitative-fluorescencet-pcr-in-the-prenatal-diagnosis-of-chromosomale-aneuploidies
#7
Shengfang Qin, Xueyan Wang, Ximin Chen, Mengling Ye, Chun Chen, Ping Wei, Lan Zeng, Yi Deng, Yunxing Li, Na Xi, Xiao Song, Lingling Sun
OBJECTIVE: To assess the accuracy of quantitative fluorescence PCR(QF-PCR) for the detection of fetal chromosomal aneuploidies and its values for prenatal diagnosis. METHODS: QF-PCR and chromosomal karyotyping were used to analyze 6066 amniotic fluid samples derived from 6034 pregnant women. RESULTS: Both QF-PCR and karyotyping analysis have detected 135 cases of fetal aneuploidies involving chromosomes 21, 18, 13, X, and Y. The QF-PCR assay was also successful in 67 cases for which amniotic fluid culture has failed...
April 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29569732/unusual-twinning-additional-findings-during-prenatal-diagnosis-of-twin-zygosity-by-single-nucleotide-polymorphism-snp-array
#8
Zhiyong Zou, Linhuan Huang, Shaobin Lin, Zhiming He, Yanmin Luo
OBJECTIVE: To evaluate the incidence and characteristics of unusual twinning by using single nucleotide polymorphism (SNP) array to identify twin zygosity. METHODS: This study reviewed 386 twin pairs who were seen for prenatal or postnatal diagnosis and underwent SNP array to detect zygosity. RESULTS: The incidence of monozygotic (MZ) twins was 11.36% (25/220) in the assisted reproductive technology (ART)-conceived group. Monochorionic dizygotic twins represented 3 of 24 monochorionic ART-conceived twin pairs (3/24, 12...
March 23, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29533957/in-utero-partial-exchange-transfusion-combined-with-in-utero-blood-transfusion-for-prenatal-management-of-twin-anemia-polycythemia-sequence
#9
Mert Ozan Bahtiyar, Emre Ekmekci, Emine Demirel, Roxanna A Irani, Joshua A Copel
Monochorionic twin pregnancies are at risk of unique complications due to placental sharing and vascular connections between placental territories assigned for each twin. Twin anemia-polycythemia sequence (TAPS) is an infrequent but potentially dangerous complication of abnormal placental vascular connections. TAPS occurs due to very-small-caliber (< 1 mm) abnormal placental vascular connections which lead to chronic anemia in the donor twin and polycythemia in the recipient twin. TAPS may occur spontaneously or following fetoscopic laser photocoagulation of communicating placental vessels for twin-twin transfusion syndrome...
March 13, 2018: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/29526034/dyssegmental-dysplasia-silverman-handmaker-type-a-challenging-antenatal-diagnosis-in-a-dizygotic-twin-pregnancy
#10
Shuaa Basalom, Yannis Trakadis, Roberta Shear, Michel E Azouz, Isabelle De Bie
BACKGROUND: Dyssegmental dysplasia Silverman-Handmaker (DDSH; MIM 224410) type is an extremely rare skeletal dysplasia caused by functional null mutations in the perlecan gene. Less than forty cases are reported in the literature, of which only four were prenatally detected. METHODS: We report on a dizygotic twin pregnancy from consanguineous parents for which one of the twins presented prenatally with severe micromelia, limb bowing and scoliosis, and postnatally with clinical and radiological features compatible with a diagnosis of dyssegmental dysplasia...
March 11, 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29462630/pitfalls-in-assessing-chorioamnionicity-novel-observations-and-literature-review
#11
REVIEW
Jing Lu, Yvonne Kwun Yue Cheng, Yuen Ha Ting, Kwok Ming Law, Tak Yeung Leung
Accurate diagnosis of chorioamnionicity in multiple pregnancies is the key to appropriate clinical management of multiple gestation. Although prenatal ultrasound assessment of chorioamnionicity is well established and highly accurate if performed in early pregnancy, exceptions and artifacts arise from anatomic variations in multiple pregnancies and unusual sonographic features do exist. We have summarized our own experiences and reports from the literature on these pitfalls as follows: (1) discordant fetal sex in monochorionic pregnancies due to sex chromosome abnormalities, genital malformation in 1 fetus, or dizygotic twins forming a monochorionic placenta; (2) separate placental masses in monochorionic pregnancies due to bipartite placenta; (3) false-negative and false-positive λ sign can arise for various reasons, and in partial monochorionic/dichorionic placentas both T and λ sign may co-exist; (4) intrauterine synechia appearing as a thick and echogenic intrauterine septum may lead to erroneous diagnosis of dichorionic twins; and (5) errors in ascertaining amnionicity by the visualization of thin intertwin amniotic membranes and the number of yolk sacs...
February 17, 2018: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29460287/chromosomal-aberrations-and-cnvs-in-twin-fetuses-with-cardiovascular-anomalies-comparison-between-monochorionic-diamniotic-and-dichorionic-diamniotic-twins
#12
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 were performed...
April 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29446813/ultrasound-monitoring-of-cervical-length-in-twin-pregnancies
#13
Kaouther Dimassi, Ines Bouriel, Amel Triki, Ali Mrabet, Mohamed Faouzi Gara
BACKGROUND: Preterm delivery is the major cause of adverse outcomes in twin pregnancy.  A shortened cervix at 20-24 weeks of amenorrhea is a good predictor of preterm birth in asymptomatic patients. However, there are no recommendations for serial cervical length measurements for these high risk pregnancies. OBJECTIVES: To evaluate the benefits from monthly cervical length monitoring in asymptomatic twin pregnancies. METHODS: This was a prospective study...
March 2017: La Tunisie Médicale
https://www.readbyqxmd.com/read/29445482/successful-management-of-a-parasitic-ischiopagus-conjoined-twins-in-a-low-income-setting
#14
Arlindo Rosario Muhelo, Genni Montemezzo, Liviana Da Dalt, Olivier Manzungu Wingi, Daniele Trevisanuto, Piergiorgio Gamba, Damiano Pizzol, Elena Cavaliere
Ischiopagus parasites are fetal defects attached to a relatively normal twin by pelvis. This is the first reported case of parasitic ischiopagus twins without prenatal diagnosis successfully managed in Mozambique. A multidisciplinary team was involved in the supernumerary limbs excision. After 7 months, the infant has a normal development.
February 2018: Clinical Case Reports
https://www.readbyqxmd.com/read/29375907/a-twin-pregnancy-with-a-hydatidiform-mole-and-a-coexisting-live-fetus-prenatal-diagnosis-treatment-and-follow-up
#15
Antonio Braga, Bruna Obeica, Heron Werner, Sue Yazaki Sun, Joffre Amim Júnior, Jorge Rezende Filho, Edward Araujo Júnior
Twin molar pregnancy with a hydatidiform mole and a coexisting live fetus is a rare form of gestational trophoblastic disease associated with an increased risk of obstetric complications and poor perinatal outcome. Prenatal diagnosis is essential for couple counseling and follow-up in Tertiary Reference Centers. Magnetic resonance imaging is important for the diagnostic differentiation of placental mesenchymal dysplasia and exclusion of myometrial invasion. Here we present a case of twin molar pregnancy with a hydatidiform mole and a coexisting live fetus diagnosed at gestational week 14 using two-dimensional (2D) and three-dimensional (3D) ultrasound and magnetic resonance imaging...
December 2017: Journal of Ultrasonography
https://www.readbyqxmd.com/read/29206494/prenatal-diagnosis-of-twin-fetuses-with-a-novel-ar-gene-mutation-in-a-chinese-family-of-complete-androgen-insensitivity-syndrome
#16
Weiqing Wu, Qian Geng, Yang Liu, Zhiyong Xu, Peining Li, Jiansheng Xie
INTRODUCTION AND AIMS: Androgen insensitivity syndrome (AIS) is an X-linked recessive genetic disorder caused by mutations in the androgen receptor (AR) gene. Only a few cases of AIS with AR gene mutations have been diagnosed prenatally. This study aimed to investigate the gene mutation in a Chinese complete androgen insensitivity syndrome family and perform prenatal diagnosis for twin fetuses. CASE REPORT: We evaluated the AR gene of the child proband in a Chinese CAIS family, and detected a novel mutation c...
December 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29205694/fetal-sex-discordance-in-a-monochorionic-twin-pregnancy-following-intracytoplasmic-sperm-injection-a-case-report-of-chimerism-and-review-of-the-literature
#17
Nihal Ş Uysal, Çağrı Gülümser, Zerrin Y Çelik, Hulusi B Zeyneloğlu, Filiz F B Yanık
A 39-year-old woman who became pregnant with twins after an intracytoplasmic sperm injection was referred at the ninth gestational week to determine chorionicity. Ultrasonographic examination showed a monochorionic diamniotic twin pregnancy. First trimester nuchal translucency measurements of the fetuses were 1.6 and 2.7 mm. A non-invasive prenatal test was performed and revealed low risk. One fetus appeared to be female and the other male at the 14th gestational week. Second trimester anatomic scanning results were otherwise normal for both fetuses...
March 2018: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/29064095/prenatal-sonographic-diagnosis-of-cephalopagus-conjoined-twins-at-14-weeks-of-pregnancy
#18
Serenat Eris Yalcin, Mehmet Ozgur Akkurt, And Yavuz, Yakup Yalcin, Mekin Sezik
Conjoined twins are extremely rare and are a type of monozygotic twins that occur due to an incomplete embryonic division on postconception day 13 to 15. Eight different types of conjoined twins have been described in the literature. Management of the condition depends on the site and extent of the union. We present a case of cephalopagus twins diagnosed at 14 weeks of gestation.
October 24, 2017: Journal of Clinical Ultrasound: JCU
https://www.readbyqxmd.com/read/29057694/early-unexpected-diagnosis-of-fetal-life-limiting-malformation-antenatal-palliative-care-and-parental-decision
#19
Federico Mariona, Marianne Burnett, Melody Zoma, Janice Blake, Hanna Khouri
INTRODUCTION: Conjoined twins are an infrequent occurrence in obstetric practice. Live-conjoined twins on a late preterm triplet pregnancy is an even rarer event. OBJECTIVE: The objective of this study is to emphasize the critical importance of perinatal palliative care and non-directive parental counseling, informed decision making and respect for autonomy following full disclosure of findings, fetal life-limiting diagnosis, treatment alternatives, maternal-fetal potential complications, and most likely perinatal outcomes...
November 2, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29055174/maternal-outcomes-in-first-and-second-trimester-termination-of-pregnancy-which-are-the-risk-factors
#20
Giulia Garofalo, Anna Garofalo, Olga Sochirca, Maria Grazia Alemanno, Eleonora Pilloni, Marilisa Biolcati, Elisabetta Muccinelli, Elsa Viora, Tullia Todros
AIMS: To evaluate maternal complications of first trimester and second trimester termination of pregnancy (TOP) performed after first or second trimester positive prenatal diagnosis (PD). RESULTS: We performed a retrospective study from January 2007 to December 2011, on 844 patients, who underwent a TOP after positive amniocentesis or chorionic villus sampling (CVS) for foetal aneuploidies, performed for maternal age ≥35 years of age, positive prenatal screening (PS) or for genetic reasons...
October 21, 2017: Journal of Perinatal Medicine
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