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Med Ultrason 2018 Dec;20(4):487-492

II ND Department of Obstetrics and Gynaecology , University of Medicine and Pharmacy Iuliu Hatieganu, Cluj Napoca, Romania.

Aims: Embryonic demise is a frequent complication of the first trimester pregnancy. The purpose of this study was to evaluate the correlation between a serum biomarker, the soluble form of the vasculo-endothelial growth factor (sFlt-1) and the distance between the yolk sac (YS) and embryo (DYSE), determined by ultrasonography.

Material And Methods: The study was a prospective case-control study that included 2 groups of patients - the control group with 81 first-trimester pregnancies in evolution and the case group with 89 first-trimester pregnancies with a potentially reserved evolutivity. Read More

Int J Gynaecol Obstet 2018 11 16;143(2):246-247. Epub 2018 Aug 16.

Department of Obstetrics and Gynecology, Japanese Red Cross Katsushika Maternity Hospital, Tokyo, Japan.

Prenat Diagn 2018 06 6;38(7):523-530. Epub 2018 Jun 6.

Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, CHU Sainte-Justine, Montreal University, Montreal, Québec, Canada.

Objective: To determine the prognostic value of fetal Doppler and echocardiographic parameters for intrauterine fetal demise (IUFD) within 24 hours and within 1 week after laser coagulation in monochorionic pregnancies complicated by twin-twin transfusion syndrome.

Method: This retrospective study correlated the preoperative hemodynamic and echocardiography parameters to the outcome in fetuses with twin-twin transfusion syndrome undergoing laser therapy.

Results: One hundred and twelve laser coagulations were performed between February 2006 and June 2015. Read More

Ultrasound Obstet Gynecol 2019 02;53(2):200-207

Fetal Medicine Unit, St George's University Hospitals NHS Foundation Trust, University of London, London, UK.

Objective: To identify key factors associated with adverse perinatal outcome in monochorionic diamniotic twin pregnancy complicated by selective fetal growth restriction (sFGR).

Methods: This was a retrospective cohort study of all monochorionic diamniotic twin pregnancies diagnosed with sFGR at ≥ 16 weeks' gestation, in a single tertiary referral center between March 2000 and May 2015. The presence of coexisting twin-twin transfusion syndrome (TTTS) was noted. Read More

J Ultrasound Med 2018 Dec 17;37(12):2841-2847. Epub 2018 Apr 17.

Division of Prenatal Medicine, Department of Obstetrics and Gynecology, University of Schleswig-Holstein, Luebeck, Germany.

Objectives: The aim of this study was to evaluate the feasibility of sonographic assessment of the embryonic/fetal neural tube in nonviable pregnancies and to determine the defect incidence.

Methods: Prospective analysis of transvaginally acquired 3-dimensional (3D) multiplanar and 3D surface-rendered volume sets of 340 cases of missed abortion between March 2010 and September 2015 was performed. Data regarding karyotype and postmortem examination as well as demographic features and the outcomes of subsequent pregnancies were evaluated. Read More

J Ultrasound Med 2018 Jul 17;37(7):1725-1732. Epub 2018 Jan 17.

Departments of Radiology, Obstetrics and Gynecology , Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

Objectives: To evaluate and compare grading systems of subchorionic hematoma (SCH) on first-trimester ultrasound examinations with live embryos to assess which best correlates with early pregnancy outcome and to assess the effect of gestational age at the time of diagnosis on outcome.

Methods: First-trimester live singleton pregnancies between 6 and 11 weeks' gestational age with SCH were identified by an institutional database search. First-trimester outcome was categorized as "live" or "demise" based on ultrasound or medical record documentation. Read More

Echocardiography 2017 12;34(12):1776-1787

Fetal & Neonatal Cardiology Program, Echocardiography Laboratory, Division of Cardiology, Departments of Pediatrics, Women & Children's Health Research, Mazankowski Alberta Heart Institutes, and Cardiovascular Research Centre, University of Alberta, Edmonton, AB, Canada.

Evaluation of fetal cardiac function is one of the most important components of fetal echocardiography. Fetal cardiac dysfunction is closely linked to risk of intrauterine fetal demise, in many, but not all cases is indicative of worse postnatal prognosis and may prompt the use of medications or interventions to optimize outcomes. There may be implications for termination versus continuation of pregnancy, an indication for early delivery, a change in location and even mode of delivery. Read More

J Ultrasound Med 2018 May 27;37(5):1185-1191. Epub 2017 Oct 27.

Department of Obstetrics, Gynecology, and Reproductive Sciences, Division of Maternal-Fetal Medicine, University of California, San Francisco, California, USA.

Objectives: Polyhydramnios and placentomegaly are commonly observed in nonimmune hydrops fetalis (NIHF); however, whether their ultrasonographic identification is relevant for prognosis is controversial. We evaluated outcomes of fetal or neonatal death and preterm birth (PTB) in cases of NIHF alone and in those with polyhydramnios and/or placentomegaly (P/PM).

Methods: We conducted a retrospective cohort of singletons with NIHF evaluated between 1994 and 2013. Read More

Ultrasound Obstet Gynecol 2018 May;51(5):580-585

Maternité Hôpital Necker-Enfants Malades, Assistance Publique, Hôpitaux de Paris, Université Paris Descartes, Paris, France.

Objective: To investigate the ultrasound characteristics and outcome of pregnancies with fetal intra-abdominal umbilical vein varix (FIUVV).

Methods: Cases of FIUVV managed at our tertiary university hospital over an 8-year period were reviewed. Information retrieved included gestational age and diameter of the umbilical varix at diagnosis, increase in varix diameter, associated ultrasound or chromosomal anomalies and pregnancy outcome. Read More

Fetal Diagn Ther 2017 27;42(2):158-160. Epub 2017 Jul 27.

Pediatric Cardiology Unit, Mansoura University Children Hospital, Mansoura University, Mansoura, Egypt.

Ductus arteriosus (DA) is a crucial element in the fetal circulation. Therefore, premature constriction of DA during the third trimester can have hazardous complications such as right ventricular dysfunction, fetal heart failure, hydrops, and even in utero demise. Normally, premature constriction is prevented by a balance between prostaglandin E2 and fetal oxygenation. Read More

Genet Med 2017 10 20;19(10):1171-1178. Epub 2017 Apr 20.

GeneDx, Gaithersburg, Maryland, USA.

PurposeThe aim of this study was to determine the diagnostic yield of whole-exome sequencing (WES) in fetuses with ultrasound anomalies that resulted in fetal demise or pregnancy termination. The results were also utilized to aid in the identification of candidate genes for fetal development and to expand the clinical phenotype of known genetic conditions.MethodsWES was performed on specimens from 84 deceased fetuses. Read More

Pediatr Infect Dis J 2017 May;36(5):500-501

From the *Infectious Diseases Department, Hospital Federal dos Servidores do Estado, Rio de Janeiro, Brazil; †Instituto Nacional de Infectologia Evandro Chagas - Fiocruz, Rio de Janeiro, Brazil; and ‡Hospital Maternidade Maria Amelia Buarque de Hollanda, Rio de Janeiro, Brazil.

We describe a case of Zika virus infection acquired during the first trimester in a HIV-infected pregnant woman that led to multiple fetal malformations and fetal demise in Rio de Janeiro, Brazil. Read More

Ultrasound Obstet Gynecol 2018 02;51(2):236-245

Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

Objective: To compare virtual autopsy using postmortem magnetic resonance imaging (MRI) with conventional autopsy with respect to phenotypic characterization of stillbirths and malformed fetuses, and acceptability to parents.

Methods: This was a prospective diagnostic evaluation study, conducted from June 2013 to June 2015, including stillbirths and pregnancies terminated owing to fetal malformation at ≥ 20 weeks' gestation, for which parental consent to both conventional autopsy and postmortem MRI was obtained. Cases of maternal and obstetric cause of fetal demise were excluded. Read More

Ultrasound Obstet Gynecol 2017 Dec;50(6):723-727

Fetal Medicine Unit, Division of Developmental Sciences, St George's University of London, London, UK.

Objective: Single intrauterine death (sIUD) in twin pregnancy is associated with a significant risk of cotwin 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 diagnosis of sIUD. Read More

Circulation 2017 Mar 31;135(11):1045-1055. Epub 2017 Jan 31.

From Department of Pediatric Cardiology, University Hospital Brno and Faculty of Medicine, Masaryk University, Czech Republic (H.J.); Fetal Medicine Center, Brno, Czech Republic (H.J., P.V., I.G.); Children's Heart Center, 2nd Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic (M.J., V.T., J.S., J.M.); University Hospital Sv. Anny, Brno, Czech Republic (I.G.); Louisiana State University Health-New Orleans, School of Public Health (J.V.); and Great Ormond Street Hospital for Children and Institute of Cardiovascular Sciences UCL, London, UK (J.M.).

Background: The study analyzed the impact of first-trimester screening on the spectrum of congenital heart defects (CHDs) later in pregnancy and on the outcome of fetuses and children born alive with a CHD.

Methods: The spectrum of CHDs, associated comorbidities, and outcome of fetuses, either diagnosed with a CHD in the first trimester (Group I, 127 fetuses) or only in the second-trimester screening (Group II, 344 fetuses), were analyzed retrospectively between 2007 and 2013. Second-trimester fetuses diagnosed with a CHD between 2007 and 2013 were also compared with Group III (532 fetuses diagnosed with a CHD in the second trimester from 1996 to 2001, the period before first-trimester screening was introduced). Read More

J Obstet Gynaecol 2017 Apr 31;37(3):355-357. Epub 2017 Jan 31.

a Early Pregnancy and Acute Gynaecology Assessment Unit , King's College Hospital , London , UK.

Ultrasound evaluation is usually requested for women presenting with hyperemesis gravidarum (HG) in early pregnancy. This is to check viability as well as to diagnose multiple pregnancies and exclude gestational trophoblastic disease (GTD). The aim of this retrospective case control study was to evaluate the early pregnancy outcomes in women with HG and to compare them with an asymptomatic control group. Read More

Pediatr Cardiol 2017 Mar 19;38(3):531-538. Epub 2016 Dec 19.

Fetal Treatment Center, University of California, San Francisco Benoiff Children's Hospital, San Francisco, CA, USA.

Ectopia cordis (EC) is a rare congenital anomaly often associated with congenital heart disease (CHD). There is a lack of contemporary information on EC diagnosed prenatally. We sought to combine the experiences of two regional referral centers in order to evaluate current outcomes for EC. Read More

Niger J Clin Pract 2017 Jan;20(1):111-114

Department of Obstetrics and Gynecology, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey.

We report a case of rudimentary horn pregnancy at 12 weeks gestation with fetal demise misdiagnosed ultrasonographically as an intrauterine pregnancy in a private clinic. The patient was referred to a tertiary care hospital after failed attempts at terminating her pregnancy. A definitive diagnosis was made with ultrasonography and magnetic resonance imaging (MRI) before uterine rupture ensued. Read More

J Ultrasound Med 2016 Oct 31;35(10):2237-41. Epub 2016 Aug 31.

Department of Obstetrics, Gynecology, and Reproductive Sciences, Division of Ultrasound, Magee-Womens Hospital, University of Pittsburgh, Pittsburgh, Pennsylvania USA.

Objectives: A fetal persistent intrahepatic right umbilical vein has been linked to anomalies and genetic disorders but can be a normal variant. We conducted a retrospective review to determine other sonographic findings that can stratify fetuses for further evaluation.

Methods: A total of 313 fetuses had a persistent intrahepatic right umbilical vein identified on 17- to 24-week sonography. Read More

J Ultrasound Med 2016 Sep 27;35(9):1949-55. Epub 2016 Jul 27.

Section of Pediatric Cardiology, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas USA.

Objectives: Primary fetal cardiomyopathy is a rare entity, with a poor prognosis. We sought to describe its echocardiographic characteristics and outcomes.

Methods: We performed a 12-year retrospective review of fetuses with primary cardiomyopathy. Read More

Fetal Diagn Ther 2017 3;41(2):108-114. Epub 2016 Jun 3.

Department of Cardiology, Children's Hospital Boston, Boston Mass., USA.

Objectives: To assess cardiac sequelae of fetal cerebral arteriovenous malformations (CAVMs) and evaluate any association with outcomes.

Methods: We retrospectively analyzed cardiac structure and function in fetuses with CAVMs who underwent fetal echocardiography (October 1999 to August 2015, n = 11), and compared them with normal controls.

Results: The median gestational age was 36 weeks (range 18-38). Read More

Akush Ginekol (Sofiia) 2016;55(6):19-25

Twin pregnancies are found in about 3 % of all pregnancies and 2/3 are dizygotic and 1/3 are monozygotic. In the last 30 years after the introduction of assisted conception and increasing maternal age the rate of twin pregnancies dramatically increased. Compared to singletons, twins have more complications such as intrauterine demise, intrauterine selective fetal growth reStriction, congenital anomalies, miscarriage and preterm labour. Read More

Fetal Diagn Ther 2016 23;40(2):128-34. Epub 2015 Dec 23.

Department of Obstetrics and Gynecology, San Juan de Dios Hospital, School of Medicine, University of Chile, Clinica Santa Maria, Santiago, Chile.

Objective: To study the umbilical artery (UA) half-peak systolic velocity deceleration time (hPSV-DT) in pregnancies complicated by fetal growth restriction (FGR).

Methods: The study included 266 singleton, high-risk pregnancies with an estimated fetal weight <10th percentile, which were examined between 24 and 40 weeks' gestation and delivered within a week from the last ultrasound evaluation. UA hPSV-DT was measured with Doppler ultrasound in the same wave used to measure the pulsatility index. Read More

Proc Natl Acad Sci U S A 2015 Oct 5;112(42):E5689-98. Epub 2015 Oct 5.

Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami FL 33136;

Considerable evidence supports mutations in mitochondrial genes as the cause of maternally inherited diseases affecting tissues that rely primarily on oxidative energy metabolism, usually the nervous system, the heart, and skeletal muscles. Mitochondrial diseases are diverse, and animal models currently are limited. Here we introduced a mutant human mitochondrial gene responsible for Leber hereditary optic neuropathy (LHON) into the mouse germ line using fluorescence imaging for tissue-specific enrichment in the target retinal ganglion cells. Read More

J Equine Sci 2015 30;26(3):89-94. Epub 2015 Sep 30.

Department of Dairy Science, California Polytechnic State University, CA 93407, U.S.A.

An equine embryo produced by intracytoplasmic sperm injection (ICSI) was trans-cervically transferred to a recipient mare and pregnancy was confirmed via ultrasound examination on days 11, 12 and 15. On days 20 and 22, a single embryonic proper with a heartbeat was observed. On day 29, two embryos proper appeared during ultrasound examination, each possessing a heartbeat. Read More

J Matern Fetal Neonatal Med 2016 15;29(14):2293-6. Epub 2015 Sep 15.

a Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology , American University of Beirut Medical Center , Beirut , Lebanon .

Objective: The association between echogenic intracardiac focus (EIF) and trisomy 21 is well established, with a recognized ethnic variation. Our study aimed to determine the prevalence of EIF in a Middle Eastern population and to examine its association with trisomy 21 and other adverse pregnancy outcomes.

Methods: Retrospective case-control study of second-trimester obstetric sonograms (16-28 weeks) performed at a tertiary care center over a 5-year period. Read More

Pediatr Dermatol 2015 Nov-Dec;32(6):858-61. Epub 2015 Jul 27.

Department of Dermatology, Hospital del Niño Jesús, Madrid, Spain.

Aplasia cutis congenita (ACC), or congenital absence of skin, is a heterogeneous condition that may be due to varied mechanisms. ACC has rarely been reported in association with fetus papyraceus, representing a peculiar phenotype of ACC. We present six new cases of neonates born with symmetric ACC associated with intrauterine fetal demise of co-twins during the late first or early second trimester. Read More

Ginekol Pol 2015 Apr;86(4):280-6

Objective: The aim of the study was to analyze types and methods of intrauterine fetal cardiac interventions performed between June 2011 and December 2013, and to assess the perinatal management of the neonates.

Methods: The program was developed after analysis of the available literature, practical individual training in Linz, Austria, and simulation of the procedure in a dissecting-room. The rules for anesthesia in pregnant women and their fetuses were developed. Read More

J Obstet Gynaecol Res 2015 Sep 21;41(9):1473-7. Epub 2015 Jun 21.

Department of Obstetrics and Gynecology, Maimonides Medical Center.

Pre-eclampsia has a progressive clinical course, and is only cured by delivery of the placenta. We report a 30-year-old G1P0 with dichorionic twins, discordant growth and chronic hypertension who developed superimposed pre-eclampsia in her 21st week of gestation. After intrauterine demise of the severely growth-restricted twin, the superimposed pre-eclampsia resolved. Read More

Obstet Gynecol Clin North Am 2015 Jun 9;42(2):225-39. Epub 2015 Mar 9.

Department of Obstetrics and Gynecology, Columbia University Medical Center, 622 West 168th Street, PH-16, New York, NY 10032, USA. Electronic address:

Twin pregnancies can be complicated. Early diagnosis with accurate dating, determination of chorionicity, screening for chromosomal and structural abnormalities, placental evaluation, and cervical length assessment should be completed in the first half of gestation. Routine fetal growth is recommended for all twins with serial surveillance for those complicated by anomalies, cervical shortening, growth disturbances, and amniotic fluid abnormalities. Read More

J Ultrasound Med 2015 May;34(5):843-6

Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California USA (S.P., L.M.K., A.L., R.H.C.); and Jackson Fetal Therapy Institute, Jackson Memorial Hospital, Miami, Florida USA (R.A.Q., E.V.K.)

Objectives: In twin-twin transfusion syndrome (TTTS), persistent absent or reversed end-diastolic flow in the umbilical artery is a rare finding in the recipient twin, and the clinical implications of this finding are not well characterized. We sought to study the clinical importance of abnormal umbilical artery Doppler waveforms in recipient twins and determine the perinatal survival of these twins after laser surgery.

Methods: A retrospective study of patients with TTTS treated with laser surgery between 2006 and 2012 was conducted. Read More

J Ultrasound Med 2015 Apr;34(4):595-9

Departments of Radiology (A.Y.M., C.B.B., D.A.C.) and Obstetrics and Gynecology (E.E.W., K.D.P., P.M.D.), Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts USA.

Objectives: The purpose of this study was to determine the outcome of cesarean scar pregnancies diagnosed during the first trimester.

Methods: We retrospectively identified all cesarean scar implantation pregnancies diagnosed by sonography before 14 weeks' gestation between 2000 and 2012 at our institution. We reviewed the patients' sonograms and medical records and recorded sonographic findings and pregnancy outcomes. Read More

Am J Obstet Gynecol 2015 Aug 28;213(2):222.e1-222.e10. Epub 2015 Feb 28.

Fetal Medicine Unit, St George's Hospital, St George's University of London, London, England, UK.

Objective: Impaired fetal growth might be better evaluated in twin pregnancies by assessing the intertwin discordance rather than the individual fetal size. The aim of this study was to investigate the prediction of perinatal loss in twin pregnancy using discordance in fetal biometry and Doppler.

Study Design: This was a retrospective cohort study in a tertiary referral center. Read More

Prenat Diagn 2015 Jun 18;35(6):583-91. Epub 2015 Mar 18.

Birmingham Centre of Women's and Children's Health, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.

Objective: The aim of this study was to quantify the risk of brain abnormalities in single-twin demise of monochorionic pregnancies and to describe the type of brain injuries using ultrasound and in utero magnetic resonance (iuMR) imaging.

Methods: Monochorionic twin pregnancies complicated by the demise of one twin referred between 2004 and 2013 were reviewed. Ultrasound was performed in a tertiary centre prior to iuMR. Read More

J Ultrasound Med 2015 Jan;34(1):137-42

New York-Presbyterian/Weill Cornell Hospital, New York, New York USA.

Objectives: The purpose of this study was to determine the live birth rate of pregnancies with a diagnosis of a chorionic bump, a convex bulge from the choriodecidual surface into the first-trimester gestational sac.

Methods: Pregnant patients at least 18 years old with the finding of a chorionic bump on first-trimester sonography were included in this prospective observational study. The independent variables were chorionic bump size and number and presence or absence of a history of infertility or coagulation disorder. Read More

Z Geburtshilfe Neonatol 2014 Oct 29;218(5):218-22. Epub 2014 Oct 29.

Klinik für Gynäkologie und Geburtshilfe, Klinikum Hanau, Hanau.

Significant placental insufficiency with Doppler ultrasound findings of absent or reverse end-diastolic flow velocities (AREDV) is associated with increased morbidity and mortality. An analysis of blood flow in the ductus venosus assists in the early recognition of threatened foetuses. However, the prognostic value of multivessel Doppler assessment for the timing of delivery is being questioned. Read More

Eur Rev Med Pharmacol Sci 2014 ;18(17):2419-23

Department of Surgical and Biomedical Sciences, Division of Obstetrics and Gynecology, University of Perugia, Perugia, Italy.

Placental mesenchymal dysplasia (PMD) is a rare pathology characterized by vascular anomalies, placentomegaly and grapelike vesicles resembling partial molar pregnancy. PMD is often associated with fetal growth restriction or intrauterine fetal demise. We report a case of an early diagnosis of PMD at 10 weeks' gestation, with a regular intrauterine growth and a fetal demise occurring at 31 week's gestation. Read More

Am J Physiol Endocrinol Metab 2014 Nov 23;307(10):E935-43. Epub 2014 Sep 23.

Department of Obstetrics and Gynecology, Division of Basic Science Research, Washington University School of Medicine, St. Louis, Missouri

Proper placental perfusion is essential for fetal exchange of oxygen, nutrients, and waste with the maternal circulation. Impairment of uteroplacental vascular function can lead to pregnancy complications, including preeclampsia and intrauterine growth restriction (IUGR). Potassium channels have been recognized as regulators of vascular proliferation, angiogenesis, and secretion of vasoactive factors, and their dysfunction may underlie pregnancy-related vascular diseases. Read More

Obstet Gynecol Surv 2014 Mar;69(3):159-63

Diagnosic Radiology, Banner Good Samaritan Medical Center, Phoenix, AZ.

Background: Umbilical artery aneurysm is a rare and often lethal condition frequently associated with fetal anomalies, fetal demise, and neonatal complications.

Case: We report a case of umbilical artery aneurysm discovered at 21 weeks 2 days of gestation in a fetus of normal karyotype. Maternal hospitalization occurred at 28 weeks for antenatal testing, betamethasone administration, and monitoring for expansion of the aneurysm. Read More

Ultrasound Obstet Gynecol 2015 May 7;45(5):544-50. Epub 2015 Apr 7.

Department of Obstetrics and Gynecology, Osaka City University Graduate School of Medicine, Osaka, Japan; Department of Obstetrics and Fetal Medicine, University Medical Center, Hamburg-Eppendorf, Hamburg, Germany.

Objectives: To investigate time-interval variables of ductus venosus (DV) flow velocity waveforms (FVWs) in twin-to-twin transfusion syndrome (TTTS), comparing the results with reference ranges from normal singleton fetuses. The impact of laser surgery and the effect of prognostic factors were also evaluated.

Methods: In 107 TTTS cases, DV-FVWs of both recipients and donors were recorded 1 day before and 2 days after laser therapy. Read More

J Ultrasound Med 2014 Jul;33(7):1147-54

Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California USA.

Objectives: To determine whether chorioamniotic membrane separation from the internal cervical os, the "moon sign," is associated with preterm premature rupture of membranes (PPROM) in twin-twin transfusion syndrome (TTTS).

Methods: A retrospective study of patients with TTTS treated with laser surgery was performed. Membrane separation before and after surgery was tested against any PPROM, PPROM within 7 days, and PPROM within 21 days. Read More

Pediatr Cardiol 2014 Dec 14;35(8):1403-14. Epub 2014 Jun 14.

Fetal Cardiac Program, Labatt Family Heart Centre, The Hospital for Sick Children, 555 University Avenue, Toronto, ON, M5G 1X8, Canada,

Factors associated with in utero fetal demise (IUFD) of fetuses that have underlying cardiac pathologies are largely unknown. This case-control study aimed to define the prevalence of IUFD in fetuses with a diagnosis of cardiac pathologies and to identify prenatal predictors of IUFD. Between January 2004 and December 2010, 74 IUFD cases [4. Read More

Am J Med Genet A 2014 Sep 12;164A(9):2391-7. Epub 2014 Jun 12.

Greenwood Genetic Center, Greenwood, South Carolina.

Cenani-Lenz syndrome (CLS) is an autosomal recessive skeletal dysplasia that results in malformations of the distal limb, renal anomalies, and characteristic facies. In 2010, this condition was found to be caused by mutations in LRP4, a member of the low-density lipoprotein family of receptors. LRP4 has been shown to antagonize LRP5/LRP6 activation of WNT and β-catenin signaling. Read More

Am J Perinatol 2014 Aug 23;31(7):617-28. Epub 2014 May 23.

Department of Medical Physics, University of Wisconsin, Madison, Wisconsin.

Aims: Detection and careful stratification of fetal heart rate (FHR) is extremely important in all pregnancies. The most lethal cardiac rhythm disturbances occur during apparently normal pregnancies where FHR and rhythm are regular and within normal or low-normal ranges. These hidden depolarization and repolarization abnormalities, associated with genetic ion channelopathies cannot be detected by echocardiography, and may be responsible for up to 10% of unexplained fetal demise, prompting a need for newer and better fetal diagnostic techniques. Read More

J Pediatr Surg 2014 May 22;49(5):706-11. Epub 2014 Feb 22.

Texas Children's Fetal Center, Texas Children's Hospital, Houston, TX; Michael E. DeBakey Department of Surgery, Baylor College of Medicine, Houston, TX; Department Obstetrics and Gynecology, Baylor College of Medicine, Houston, TX. Electronic address:

Purpose: The purpose of this study was to review the unique imaging characteristics, prenatal course, and outcomes for fetuses with mainstem bronchial atresia (MBA).

Methods: The records of all patients referred for a fetal lung malformation from 2001 to 2012 and the medical literature were reviewed to identify cases of MBA.

Results: Of 129 fetuses evaluated, 3 were diagnosed prenatally with right-sided MBA. Read More

Cardiol Young 2015 Mar 1;25(3):580-3. Epub 2014 May 1.

Department of Pediatrics,Sainte-Justine Hospital Center,Division of Pediatric Cardiology,Montréal,Québec,Canada.

Uhl's anomaly is an evolutive disease leading to terminal right ventricular failure. The most difficult differential diagnosis at presentation is the Ebstein disease. We describe the evolution of a foetus with Uhl's anomaly from 21 to 30 weeks of gestation, with progressive reduction in the right ventricular anterior myocardium suggestive of apoptosis, leading to foetal demise. Read More

J Matern Fetal Neonatal Med 2015 Mar 27;28(4):409-12. Epub 2014 May 27.

Department of Obstetrics and Gynecology, Cedars Sinai Medical Center , Los Angeles, CA , USA .

Introduction: Velamentous cord insertion (VCI) can be identified on prenatal ultrasound with an incidence of around 1%. We set out to examine the association between VCI and perinatal outcomes.

Methods: This was a retrospective cohort study of 482,812 pregnancies using the California vital statistics birth cohort dataset linked with patient discharge dataset from 2006 during which 2327 (0. Read More

Birth Defects Res A Clin Mol Teratol 2014 Apr 12;100(4):284-93. Epub 2014 Feb 12.

Department of Obstetrics and Gynecology, University Hospital of Heraklion, Heraklion, Crete, Greece.

Background: Partial trisomy of the long arm of chromosome 1 (1q) is an exceptionally rare chromosomal abnormality and most of the prenatally diagnosed cases are associated with either complete (q11-qter) or large (q21-qter) duplications with pre- or perinatal demise of all reported cases. The most common sonographic findings associated with this karyotype abnormality include ventriculomegaly, increased nuchal translucency or nuchal fold, renal and cardiac abnormalities, craniofacial dysmorphism, and limb deformities. However, there is a wide spectrum of clinical manifestations due to the great variability in the extent of the duplication size and the possible contribution of additional genetic rearrangements in the final phenotype. Read More

Diagn Interv Imaging 2015 Jan 13;96(1):21-6. Epub 2014 Mar 13.

Service d'imagerie anténatale et pédiatrique, université de Rennes 1, centre hospitalier universitaire hôpital Sud, 16, boulevard Bulgarie, BP 90347, 35203 Rennes cedex 2, France.

Foetal intra-abdominal umbilical vein varix is rare. Colour Doppler ultrasonography helps distinguish this vascular anomaly. A detailed anatomic scan must be performed to exclude associated anomalies: forms associated with additional complications are found in 29 to 35% of the cases. Read More

Pediatr Dev Pathol 2014 May-Jun;17(3):217-20. Epub 2014 Mar 11.

1  Department of Obstetrics and Gynecology Division of Maternal Fetal Medicine, University of South Florida, Tampa, FL, USA.

Postmortem evaluation following an in utero fetal demise is essential for determining cause of death and counseling regarding future pregnancies. Severe maceration and fetal size along with patient desires may limit the physician's ability to perform a complete autopsy. In the cases presented, we demonstrate the utility of postmortem ultrasonography as an adjunct to traditional autopsy following fetal demise. Read More