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K H Nicolaides - One of the best experts on this subject based on the ideXlab platform.

  • Single Umbilical Artery at 11–14 weeks ’ gestation: relation to chromosomal defects
    2015
    Co-Authors: G Rembouskos, S Cicero, D Longo, C Sacchini, K H Nicolaides
    Abstract:

    Objective To determine the possible association between Single Umbilical Artery (SUA) at 11–14 weeks of gestation and the incidence of chromosomal abnormalities. Methods Color flow imaging of the fetal pelvis was used to determine the number of Umbilical arteries in 717 fetuses immediately before chorionic villus sampling for karyotyping at 11–14 weeks ’ gestation. Results Single Umbilical Artery (SUA) was diagnosed in 21/634 (3.3%) chromosomally normal fetuses, in 5/44 (11.4%) with trisomy 21, 14/18 (77.8%) with trisomy 18 and 2/21 (9.5%) with other chromosomal defects. In the chromosomally normal group there was no significant difference in median fetal crown–rump length or nuchal translucency (NT) between those with a Single and those with two Umbilical arteries. In the 42 fetuses with SUA the expected number of cases of trisomy 21, estimated on the basis of maternal age, gestational age and fetal NT, was 4.7, which was not significantly different from the observed 5. The corresponding numbers for trisomy 18 were 2.0 for expected and 14 for observed (Fisher’s exact test P = 0.0016). Conclusion A SUA at 11–14 weeks ’ gestation has a high association with trisomy 18 and other chromosoma

  • isolated Single Umbilical Artery and fetal karyotype
    Obstetrical & Gynecological Survey, 2010
    Co-Authors: T Dagklis, D Defigueiredo, I Staboulidou, Davide Casagrandi, K H Nicolaides
    Abstract:

    Ultrasound scans in the second and third trimesters of pregnancy have identified fetal anomalies related to chromosomal abnormalities in about 10% of fetuses with a Single Umbilical Artery (SUA). Because fetal defects are identified in addition to the SUA in most chromosomally abnormal fetuses, it is unclear whether karyotyping is necessary for cases with isolated SUA. This study investigated the association between isolated SUA diagnosed during a routine second-trimester scan and chromosomal abnormalities, in order to determine whether fetal karyotyping is needed for pregnancies with an isolated SUA. All pregnant patients presenting for antenatal care and delivery at a fetal medicine unit between 2002 and 2008 were offered 2 ultrasound scans, the first at 11 to 13 weeks' gestation to screen for dysmorphisms associated with chromosomal defects and the second at 20 to 23 weeks for a detailed fetal examination. Another category of pregnant patients examined were referred from other hospitals because of suspected fetal abnormalities identified during their routine second trimester scan. Search of the fetal database identified 643 cases with SUA; of these, 424 (65.9%) were cases of isolated SUA, 133 (20.7%) were cases with 1 major defect, and 86 (13.4%) had multiple defects. Among these groups, the incidence of chromosomal abnormalities was 50.7% (37/73) in cases with multiple defects, 3.7% (4/108) in those with 1 defect, and 0% in those with isolated SUA. The most common chromosomal abnormalities in cases with multiple defects were trisomy 18, trisomy 13, and triploidy; these accounted for 91.9% (34/37) of cases. These findings suggest that fetuses with an isolated SUA are not at increased risk of chromosomal abnormalities. However, identification of an SUA in the second trimester requires careful examination for possible associated defects which do increase the risk of chromosomal abnormalities.

  • isolated Single Umbilical Artery need for specialist fetal echocardiography
    Ultrasound in Obstetrics & Gynecology, 2010
    Co-Authors: D Defigueiredo, T Dagklis, Vita Zidere, Lindsey D Allan, K H Nicolaides
    Abstract:

    Objective To examine the association between Single Umbilical Artery (SUA) and cardiac defects and to determine whether patients with SUA require specialist fetal echocardiography. Methods Incidence and type of cardiac defects were determined in fetuses with SUA detected at routine second-trimester ultrasound examination. Results A routine second-trimester scan was performed in 46 272 Singleton pregnancies at a median gestation of 22 (range, 18–25) weeks and an SUA was diagnosed in 246 (0.5%). Cardiac defects were diagnosed in 16 (6.5%) of these cases, including 10 (4.3%) in a subgroup of 233 with no other defects and in six (46.2%) of the 13 with multiple defects. In 11 (68.8%) of the 16 cases with cardiac defects the condition was readily diagnosable by evaluating the standard four-chamber view and the views of the great arteries. In the remaining cases there was left persistent superior vena cava or small ventricular septal defect, where prenatal diagnosis may not be important because they are not associated with adverse outcome. Conclusion Although SUA is associated with an increased incidence of cardiac defects it may not be necessary to refer such patients for specialist fetal echocardiography because the defects are detectable by evaluating standard cardiac views that should be part of the routine second-trimester scan. Copyright © 2010 ISUOG. Published by John Wiley & Sons, Ltd.

  • isolated Single Umbilical Artery and fetal karyotype
    Ultrasound in Obstetrics & Gynecology, 2010
    Co-Authors: T Dagklis, D Defigueiredo, I Staboulidou, Davide Casagrandi, K H Nicolaides
    Abstract:

    Objective To determine the need for fetal karyotyping in cases of an isolated Single Umbilical Artery (SUA) identified during the second-trimester routine anomaly scan. Methods All patients booked for antenatal care and delivery in our hospital are offered two ultrasound scans in pregnancy, one at 11–13 weeks’ gestation as part of screening for chromosomal defects and another at 20–23 weeks for detailed fetal examination. In addition we examine patients referred from other hospitals because of suspected fetal abnormalities during their routine second-trimester scan. We performed a search of the database to retrieve all cases with an SUA and reviewed the ultrasound findings, fetal karyotype and pregnancy outcome. Results There were 643 cases with SUA, including 424 (65.9%) where the condition was isolated, 133 (20.7%) with one major fetal defect and 86 (13.4%) with multiple defects. The incidence of chromosomal abnormalities was 0% in the isolated SUA group, 3.7% in those with one defect and 50.7% in those with multiple defects. The commonest chromosomal abnormalities were trisomy 18, trisomy 13 and triploidy, which together accounted for 82.9% of cases. Conclusion The finding of an SUA should prompt the sonographer to search for fetal defects and if these are found the risk for chromosomal abnormalities is increased. In cases of apparently isolated SUA there is no evidence of increased risk of chromosomal abnormalities. Copyright  2010 ISUOG. Published by John Wiley & Sons, Ltd.

  • Single Umbilical Artery at 11 14 weeks gestation relation to chromosomal defects
    Ultrasound in Obstetrics & Gynecology, 2003
    Co-Authors: G Rembouskos, S Cicero, D Longo, C Sacchini, K H Nicolaides
    Abstract:

    Objective To determine the possible association between Single Umbilical Artery (SUA) at 11–14 weeks of gestation and the incidence of chromosomal abnormalities. Methods Color flow imaging of the fetal pelvis was used to determine the number of Umbilical arteries in 717 fetuses immediately before chorionic villus sampling for karyotyping at 11–14 weeks' gestation. Results Single Umbilical Artery (SUA) was diagnosed in 21/634 (3.3%) chromosomally normal fetuses, in 5/44 (11.4%) with trisomy 21, 14/18 (77.8%) with trisomy 18 and 2/21 (9.5%) with other chromosomal defects. In the chromosomally normal group there was no significant difference in median fetal crown–rump length or nuchal translucency (NT) between those with a Single and those with two Umbilical arteries. In the 42 fetuses with SUA the expected number of cases of trisomy 21, estimated on the basis of maternal age, gestational age and fetal NT, was 4.7, which was not significantly different from the observed 5. The corresponding numbers for trisomy 18 were 2.0 for expected and 14 for observed (Fisher's exact test P = 0.0016). Conclusion A SUA at 11–14 weeks' gestation has a high association with trisomy 18 and other chromosomal defects. Copyright © 2003 ISUOG. Published by John Wiley & Sons, Ltd.

Svein Rasmussen - One of the best experts on this subject based on the ideXlab platform.

  • Single Umbilical Artery and risk of congenital malformation population based study in norway
    Ultrasound in Obstetrics & Gynecology, 2020
    Co-Authors: Cathrine Ebbing, Jorg Kessler, Dag Moster, Svein Rasmussen
    Abstract:

    Objectives Single Umbilical Artery (SUA) is associated with congenital malformations in most organ systems, but reported findings have not been consistent. While it has been suggested that genetic and persisting environmental factors influence the development of SUA, it is not known whether there is an increased risk of recurrence in a subsequent pregnancy of the same woman. The aims of this study were to investigate the occurrence of, and risk factors for, SUA in Norway, to assess its association with congenital malformations and trisomies 13, 18 and 21 and to study the risk of recurrence of SUA in subsequent pregnancies. Methods This was a population-based study of all (n = 918 933) Singleton pregnancies of > 16 weeks' gestation recorded in the Medical Birth Registry of Norway from 1999 to 2014. To identify risk factors and congenital malformations associated with SUA, generalized estimating equations and logistic regression were used to calculate odds ratios (OR) with 95% CIs. ORs were also calculated for the recurrence of SUA in subsequent pregnancy. Results The occurrence of SUA in our population was 0.46% (4241/918 933). Parity ≥ 4, smoking, maternal pregestational diabetes, epilepsy, chronic hypertension, previous Cesarean delivery and conception by assisted reproductive technology increased the odds of having SUA. There was a particularly strong association between SUA and gastrointestinal atresia or stenosis in the neonate, with ORs of 25.8 (95% CI, 17.0-39.1) and 20.3 (95% CI, 13.4-30.9) for esophageal and anorectal atresia or stenosis, respectively, followed by an OR of 5.9 (95% CI, 1.9-18.5) for renal agenesis. SUA was associated with an up to 7-8 times increased risk of congenital heart defects. There was an association with microcephaly, congenital hydrocephalus and other congenital malformations of the brain and spinal cord. Diaphragmatic hernia, limb reductions and cleft lip or palate had a weaker association with SUA, with ORs ranging from 4.8 to 2.8. The associations with trisomy 18 and 13 were equally strong (OR 14.4 (95% CI, 9.3-22.4) and OR 13.6 (95% CI, 6.7-27.8), respectively), and the risk of trisomy 21 was doubled (OR 2.1 (95% CI, 1.2-3.6)). Pregnancies with SUA, with or without an associated malformation, had a 2-fold increased risk for SUA in a subsequent pregnancy. Conclusions SUA is associated strongly with gastrointestinal atresia or stenosis, suggesting common developmental mechanisms. The increased risk of recurrence of SUA suggests that genetic and/or persisting environmental factors influence the risk. We found that SUA had equally strong associations with trisomies 13 and 18. © 2019 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of the International Society of Ultrasound in Obstetrics and Gynecology.

G Rembouskos - One of the best experts on this subject based on the ideXlab platform.

  • Single Umbilical Artery at 11–14 weeks ’ gestation: relation to chromosomal defects
    2015
    Co-Authors: G Rembouskos, S Cicero, D Longo, C Sacchini, K H Nicolaides
    Abstract:

    Objective To determine the possible association between Single Umbilical Artery (SUA) at 11–14 weeks of gestation and the incidence of chromosomal abnormalities. Methods Color flow imaging of the fetal pelvis was used to determine the number of Umbilical arteries in 717 fetuses immediately before chorionic villus sampling for karyotyping at 11–14 weeks ’ gestation. Results Single Umbilical Artery (SUA) was diagnosed in 21/634 (3.3%) chromosomally normal fetuses, in 5/44 (11.4%) with trisomy 21, 14/18 (77.8%) with trisomy 18 and 2/21 (9.5%) with other chromosomal defects. In the chromosomally normal group there was no significant difference in median fetal crown–rump length or nuchal translucency (NT) between those with a Single and those with two Umbilical arteries. In the 42 fetuses with SUA the expected number of cases of trisomy 21, estimated on the basis of maternal age, gestational age and fetal NT, was 4.7, which was not significantly different from the observed 5. The corresponding numbers for trisomy 18 were 2.0 for expected and 14 for observed (Fisher’s exact test P = 0.0016). Conclusion A SUA at 11–14 weeks ’ gestation has a high association with trisomy 18 and other chromosoma

  • Single Umbilical Artery at 11 14 weeks gestation relation to chromosomal defects
    Ultrasound in Obstetrics & Gynecology, 2003
    Co-Authors: G Rembouskos, S Cicero, D Longo, C Sacchini, K H Nicolaides
    Abstract:

    Objective To determine the possible association between Single Umbilical Artery (SUA) at 11–14 weeks of gestation and the incidence of chromosomal abnormalities. Methods Color flow imaging of the fetal pelvis was used to determine the number of Umbilical arteries in 717 fetuses immediately before chorionic villus sampling for karyotyping at 11–14 weeks' gestation. Results Single Umbilical Artery (SUA) was diagnosed in 21/634 (3.3%) chromosomally normal fetuses, in 5/44 (11.4%) with trisomy 21, 14/18 (77.8%) with trisomy 18 and 2/21 (9.5%) with other chromosomal defects. In the chromosomally normal group there was no significant difference in median fetal crown–rump length or nuchal translucency (NT) between those with a Single and those with two Umbilical arteries. In the 42 fetuses with SUA the expected number of cases of trisomy 21, estimated on the basis of maternal age, gestational age and fetal NT, was 4.7, which was not significantly different from the observed 5. The corresponding numbers for trisomy 18 were 2.0 for expected and 14 for observed (Fisher's exact test P = 0.0016). Conclusion A SUA at 11–14 weeks' gestation has a high association with trisomy 18 and other chromosomal defects. Copyright © 2003 ISUOG. Published by John Wiley & Sons, Ltd.

Gundula Hebisch - One of the best experts on this subject based on the ideXlab platform.

  • fetal bilateral renal agenesis phocomelia and Single Umbilical Artery associated with cocaine abuse in early pregnancy
    Birth Defects Research Part A-clinical and Molecular Teratology, 2003
    Co-Authors: Maki Kashiwagi, Rabih Chaoui, Thomas Stallmach, Sandra Hurlimann, Urs Lauper, Gundula Hebisch
    Abstract:

    BACKGROUND Maternal cocaine abuse in pregnancy is associated with complications such as intrauterine growth retardation, abruptio placentae, and preterm delivery. CASE We report what is, to our knowledge, the first published observation of fetal bilateral renal agenesis associated with a vascular disruption syndrome comprising upper limb reduction defect and a Single Umbilical Artery following maternal cocaine abuse in early pregnancy. CONCLUSIONS This constellation in a fetus aborted at 18 weeks extends the spectrum of complications possibly associated with cocaine abuse in pregnancy. Birth Defects Research (Part A), 2003. © 2003 Wiley-Liss, Inc.

  • Fetal Bilateral Renal Agenesis, Phocomelia, and Single Umbilical Artery Associated with Cocaine Abuse in Early Pregnancy
    2003
    Co-Authors: Gundula Hebisch
    Abstract:

    BACKGROUND: Maternal cocaine abuse in pregnancy is associated with complications such as intrauterine growth retardation, abruptio placentae, and preterm delivery. CASE: We report what is, to our knowledge, the first published observation of fetal bilateral renal agenesis associated with a vascular disruption syndrome comprising upper limb reduction defect and a Single Umbilical Artery following maternal cocaine abuse in early pregnancy. CONCLUSIONS: This constellation in a fetus aborted at 18 weeks extends the spectrum of complications possibly associated with cocaine abuse in pregnancy. Birth Defects Research (Part A) 67:951–952, 2003. © 2003 Wiley-Liss, Inc. BACKGROUND Maternal cocaine abuse in pregnancy is associated with complications such as intrauterine growth retardation, ab-ruptio placentae, and preterm delivery (reviewed in Briggs, 2001). However, since abuse is rarely confined to a Single substance, the teratogenicity and obstetric risks spe-cific to cocaine remain debated (Addis et al., 2001). Scepticism as to the teratogenicity of cocaine (Addis et al., 2001) contrasts with descriptions of multiple fetal de-fects associated with intrauterine cocaine exposure (re

E Pajkrt - One of the best experts on this subject based on the ideXlab platform.

  • relationship of isolated Single Umbilical Artery to fetal growth aneuploidy and perinatal mortality systematic review and meta analysis
    Obstetrical & Gynecological Survey, 2014
    Co-Authors: B J Voskamp, H Fleurkerozema, K Ouderengerink, R Snijders, C M Bilardo, Ben Willem J Mol, E Pajkrt
    Abstract:

    The Umbilical cord normally contains 2 arteries and a Single vein. When an Umbilical Artery is absent, the condition is called Single Umbilical Artery (SUA). The reported prevalence of SUA varies from 0.5% at the second-trimester prenatal ultrasound and in Umbilical cord specimens from live-born infants to 2.1% in fetal deaths, autopsies, or aborted fetuses. Approximately 33% of fetuses with SUA have additional structural anomalies, and 10% are affected with aneuploidy. In ~65% of cases, SUA seems to be an isolated finding. In pregnancies with an apparently isolated SUA (iSUA), aneuploidy or fetal size (small for gestational age [SGA]) may become apparent later in pregnancy or at birth. This systematic review was undertaken to assess outcome of iSUA diagnosed at the midtrimester ultrasound scan and to determine whether data are sufficient to determine appropriate management of pregnancies with diagnosed iSUA. MEDLINE, EMBASE, and the Cochrane Library databases were searched for articles reporting on SUA. Randomized controlled trials, cohort studies, and case-control studies were eligible if they described 30 or more cases of apparent iSUA identified by ultrasound before a mean gestational age of 24 weeks. All studies that allowed construction of a 2 × 2 table were included, with the incidence of the outcome of interest in SUA fetuses and 3-vessel cord fetuses. Quantitative data on the outcome variables included incidence of SGA and perinatal mortality, median or mean birth weight, and frequency of aneuploidy. Odds ratios (ORs) with 95% confidence intervals (CIs) were determined for the occurrence of SGA, perinatal mortality, and frequency of aneuploidy in iSUA fetuses compared with those in 3-vessel cord fetuses. Of 449 articles, the final analysis included 3 cohort and 4 case-control studies, reporting on 68 and 297 cases of apparent iSUA, with a total of 982 patients with an iSUA. The mean gestational age at diagnosis of SUA was 19.0 to 24.3 weeks. A non-statistically significant association was found between iSUA and SGA at birth (OR for SGA in fetuses with iSUA, 1.6; 95% CI, 0.97-2.6; P = 0.06), with ORs in the cohort studies ranging from 1.1 to 3.3. In 3 of the case-control studies, iSUA fetuses did not have significantly lower mean birth weights compared with control fetuses (mean weight, 3154 vs 3176 g; mean difference, 51 g; 95% CI, -154.7 to 52.6 g; P = 0.33). The OR for preterm birth in fetuses with an iSUA compared with control fetuses was 2.1 (95% CI, 1.4-3.2) for delivery before 37 weeks and 3.3 (95% CI, 1.4-7.7) for delivery before 34 weeks. Although there was a positive association between iSUA and increased perinatal mortality, it did not meet statistical significance (OR, 2.0; 95% CI, 0.9-4.2; P = 0.07). Among 695 iSUA cases reported in 16 studies, 4 cases of aneuploidy (0.58%) occurred; the mean maternal age was 30.1 years. These results indicate that iSUA is associated with a nonsignificant trend for increased risk for SGA and perinatal mortality. The relatively low birth weight in iSUA neonates may occur as a result of a relatively high prevalence of preterm birth. On the basis of this review, no firm conclusions can be drawn about the association between iSUA and aneuploidy. More large-scale, prospective cohort studies are necessary to clarify these associations and identify appropriate management protocols for iSUA fetuses.

  • relationship of isolated Single Umbilical Artery to fetal growth aneuploidy and perinatal mortality systematic review and meta analysis
    Ultrasound in Obstetrics & Gynecology, 2013
    Co-Authors: B J Voskamp, H Fleurkerozema, K Ouderengerink, R Snijders, C M Bilardo, Ben Willem J Mol, E Pajkrt
    Abstract:

    Objective To review the available literature on outcome of pregnancy when an isolated Single Umbilical Artery (iSUA) is diagnosed at the time of the mid-trimester anomaly scan. Methods We searched MEDLINE (1948–2012), EMBASE (1980–2012) and the Cochrane Library (until 2012) for relevant citations reporting on outcome of pregnancy with iSUA seen on ultrasound. Data were extracted by two reviewers. Where appropriate, we pooled odds ratios (ORs) for the dichotomous outcome measures: small for gestational age (SGA), perinatal mortality and aneuploidy. For birth weight we determined the mean difference with 95% CI. Results We identified three cohort studies and four case–control studies reporting on 928 pregnancies with iSUA. There was significant heterogeneity between cohort and case–control studies. Compared to fetuses with a three-vessel cord, fetuses with an iSUA were more likely to be SGA (OR 1.6 (95% CI, 0.97–2.6); n = 489) or suffer perinatal mortality (OR 2.0 (95% CI, 0.9–4.2); n = 686), although for neither of the outcomes was statistical significance reached. The difference in mean birth weight was 51 g (95% CI, –154.7 to 52.6 g): n = 407), but again this difference was not statistically significant. We found no evidence that fetuses with iSUA have an increased risk for aneuploidy. Conclusion In view of the non-significant association between iSUA and fetal growth and perinatal mortality, and in view of the heterogeneity in studies on aneuploidy, we feel that large-scale, prospective cohort studies are needed to reach definitive conclusions on the appropriate work-up in iSUA pregnancies. At present, targeted growth assessment after diagnosis of iSUA should not be routine practice. Copyright © 2013 ISUOG. Published by John Wiley & Sons Ltd.