First-Trimester Sonographic Diagnosis of Holoprosencephaly

Save this PDF as:
 WORD  PNG  TXT  JPG

Size: px
Start display at page:

Download "First-Trimester Sonographic Diagnosis of Holoprosencephaly"

Transcription

1 Article First-Trimester Sonographic Diagnosis of Holoprosencephaly Value of the Butterfly Sign Waldo Sepulveda, MD, Victor Dezerega, MD, Cecilia Be, MSc Objective. To study the value of choroid plexus dysmorphology as a screening tool for the firsttrimester sonographic diagnosis of holoprosencephaly in a high-risk population. Methods. A total of 378 consecutive pregnancies undergoing chorionic villus sampling between 11 and 14 weeks gestation were scanned before the procedure, following the recommendations of the Fetal Medicine Foundation (London, England). A cross-sectional view of the fetal brain, including the visualization of both choroid plexuses (the butterfly sign), was obtained in all cases. Results. There were 3 cases in which the butterfly sign was not identified. In these cases, the first-trimester diagnosis of holoprosencephaly was confirmed by the presence of a single monoventricular cavity and fused thalami. Two of these fetuses had features of facial dysmorphism at the time of presentation and 2 had extracranial anomalies, including a cystic hygroma in 1 and a small omphalocele and polydactyly in another. Chromosomal analysis showed trisomy 13 in 2 cases and a ring chromosome 13 in the other. Conclusions. This series suggests that failure to identify the butterfly sign is a warning sign of holoprosencephaly in the first trimester. Systematic identification of the butterfly sign at the time of sonographic assessment of nuchal translucency provides a valuable tool for the early screening of holoprosencephaly. Key words: brain anomalies; choroid plexus; first trimester; holoprosencephaly; prenatal sonography. Abbreviations CVS, chorionic villus sampling Received January 27, 2004, from the Fetal Medicine Center, Department of Obstetrics and Gynecology (W.S., V.D.), and Cytogenetics Laboratory (C.B.), Clinica Las Condes, Santiago, Chile. Revision requested February 5, Revised manuscript accepted for publication February 10, This work was supported by the Sociedad Profesional de Medicina Fetal "Fetalmed" Limitada, Chile. Address correspondence and reprint requests to Waldo Sepulveda, MD, Fetal Medicine Center, Clinica Las Condes, Casilla 208, Santiago 20, Chile. Holoprosencephaly is a severe brain anomaly characterized by different degrees of fusion of the lateral ventricles resulting from failure of the prosencephalon to cleave during early embryogenesis. 1 This condition is invariably associated with a wide range of midfacial defects ranging from a single incisor to cyclopia. 2 Prenatal diagnosis of holoprosencephaly is usually made in the second trimester by the sonographic demonstration of fused lateral ventricles, no visible midline structures, and fusion of the thalami. 3 Recently, first-trimester sonographic screening for chromosomal abnormalities by measuring the nuchal translucency thickness at 11 to 14 weeks gestation 4,5 has been increasingly incorporated into routine clinical practice. An important advantage of this examination is the possibility of an early examination of the fetal anatomy for major structural defects by the American Institute of Ultrasound in Medicine J Ultrasound Med 2004; 23: /04/$3.50

2 First-Trimester Sonographic Diagnosis of Holoprosencephaly The aim of this study was to determine the value of a focused examination of the fetal brain for assessing the morphologic characteristics of the choroid plexuses as a screening tool for the early diagnosis of holoprosencephaly in a highrisk population. Materials and Methods This was a retrospective analysis of 378 consecutive first-trimester pregnancies undergoing chorionic villus sampling (CVS) in our institution by 1 of 2 fetal medicine specialists (W.S. and V.D.). In all cases, sonography was performed before the procedure, following the recommendations of the Fetal Medicine Foundation (London, England). These included measurements of the crown-rump length and nuchal translucency thickness, and assessment of the fetal anatomy looking for major structural defects. 4,5 Evaluation of the brain included a cross-sectional view of the fetal head, which in normal circumstances shows 2 paired echogenic structures filling most of the lateral ventricles, corresponding to the choroid plexuses. Because the choroid plexus is narrow in its medial portion and prominent at both the frontal and caudal ends, the apposition of both choroid plexuses in the midline at this particular gestational age produces a characteristic Figure 1. Cross-sectional view of the fetal brain at 11 weeks 5 days menstrual age showing the characteristic butterfly appearance of the choroid plexuses. appearance resembling a butterfly (Figure 1). This feature is not present in first-trimester fetuses with holoprosencephaly, however, because that condition is associated with severe distortion of the lateral ventricles and choroid plexuses. After informed consent was obtained, CVS was performed transabdominally under continuous sonographic guidance using the freehand technique. The fetal karyotype was obtained from short- and long-term cultures of chorionic villi with the use of standard cytogenetic techniques. Whenever possible, a second-trimester follow-up scan was performed to confirm the first-trimester sonographic findings. Results During the study period, 378 women considered at risk for chromosomal defects underwent first-trimester CVS at a median gestational age of 12 weeks (range, weeks). Three fetuses had a diagnosis of holoprosencephaly at gestational ages ranging from 12 weeks 4 days to 13 weeks 5 days. In none of the cases was it possible to identify the butterfly sign (Figures 2 and 3). Focused examination of the fetal brain in these cases showed the characteristic intracranial sonographic findings associated with holoprosencephaly, including a monoventricular cavity with an absent midline and fused thalami. Table 1 shows the most relevant clinical and sonographic findings in these cases. Nuchal translucency thickness was normal in 2 fetuses and abnormally increased in the other (cystic hygroma). Associated facial anomalies were found at the time of presentation in 2 cases, and extracranial anomalies were found in 2, 1 with a cystic hygroma and 1 with a small omphalocele and polydactyly. Prenatal karyotyping revealed trisomy 13 in 2 cases and a ring chromosome 13 in the other. Both pregnancies associated with trisomy 13 were terminated abroad. The other pregnancy miscarried at 23 weeks. Second-trimester sonography in this case revealed holoprosencephaly, microcephaly, abnormal facial features, an abnormal 4-chamber view of the heart, talipes, and intrauterine growth restriction. In all the remaining 375 cases, the butterfly sign was identified, and none of the fetuses proved to have holoprosencephaly. 762 J Ultrasound Med 23: , 2004

3 Sepulveda et al Discussion This study confirms previous reports that the prenatal sonographic diagnosis of holoprosencephaly is feasible in the first trimester Moreover, we have documented the value of systematic visualization of the cross section of the fetal brain in the early detection of this condition. As part of our routine examination of the fetal anatomy in fetuses at 11 to 14 weeks gestation, the butterfly sign was consistently looked for in our study. Indeed, 2 cases of holoprosencephaly in our series were detected in women originally requesting nuchal translucency screening. In the other, the diagnosis was incidentally made during sonographic evaluation of the fetal anatomy before CVS. In recent years, there has been an increasing interest in the early diagnosis of fetal anomalies. Among them, early prenatal diagnosis of holoprosencephaly is a desirable clinical goal because this condition is associated with several chromosomal defects, mainly trisomy 13, trisomy 18, and triploidy. 1 Even in fetuses with a normal karyotype, the detection of holoprosencephaly is important because this major brain anomaly is associated with an almost uniformly lethal outcome or, in the few survivors, with profound neurodevelopmental delay. Several authors have studied the association between holoprosencephaly and chromosomal abnormalities, particularly trisomy 13. In a large series of 38 fetuses with holoprosencephaly undergoing second- and third-trimester karyotyping, 11 (29%) had an abnormal karyotype, 8 with trisomy 13 and 3 with other chromosomal defects. 11 In another study of 30 fetuses with holoprosencephaly, 11 (37%) had chromosomal abnormalities, 8 of which involved chromosome Conversely, of 46 cases of trisomy 13 diagnosed as part of a large multicentric firsttrimester sonographic screening study involving 100,311 singleton pregnancies with live fetuses, 11 (24%) had holoprosencephaly at the time of nuchal translucency measurement. 12 Later on in pregnancy, when a thorough examination of the fetal brain is more plausible, detection of holoprosencephaly in fetuses with trisomy 13 is higher. Indeed, a series of 15 fetuses with trisomy 13 scanned at 16 to 22 weeks gestation showed that 7 (47%) had holoprosencephaly. 13 In another series involving 33 fetuses with trisomy 13 scanned in the second and third trimesters, 13 Figure 2. Case 2: cross-sectional view of the fetal brain in a fetus with trisomy 13 at 12 weeks 4 days showing the absence of the butterfly sign. (39%) had holoprosencephaly. 14 In our series, 3 cases of holoprosencephaly were detected in the first trimester, and all were associated with abnormalities of chromosome 13: trisomy 13 in 2 and a ring chromosome 13 in the other. A limited anatomic survey of the fetal brain in the first trimester can be achieved in a high percentage of cases. According to a previous study, the cranium, thalamus, choroid plexus, and lat- Figure 3. Case 3: holoprosencephaly in a fetus with a ring chromosome 13 at 13 weeks 5 days. Note the absence of the butterfly sign. J Ultrasound Med 23: ,

4 First-Trimester Sonographic Diagnosis of Holoprosencephaly Table 1. First-Trimester Sonographic Diagnosis of Holoprosencephaly Case MA, y GA, wk/d Reason for Referral NT, mm Sonographic Findings Karyotype /4 Consanguinity, 2.2 Holoprosencephaly, 47,XY,+13 advanced MA facial dysmorphism, small omphalocele, polydactyly /4 Suspected brain 1.6 Holoprosencephaly, 47,XY,+13 anomaly facial dysmorphism /5 Routine 5.8 Holoprosencephaly, 46,XX,+r(13) cystic hygroma GA indicates gestational age; MA, maternal age; and NT, nuchal translucency. eral ventricles can be visualized sonographically in 90% of cases at 11 weeks and in virtually all cases between 12 and 14 weeks. 15 The choroid plexuses of the lateral ventricles are very prominent organs during this developmental period. They can be easily identified by sonography, which can provide an important landmark for normalcy of the fetal brain at this early gestational age. Our study revealed that failure to identify the normal anatomic characteristics of the choroid plexuses and absence of the butterfly sign in the first trimester were diagnostic of holoprosencephaly in all cases. However, the inability to identify the normal morphologic characteristics of the choroid plexuses could be a prominent feature in other pathologic conditions, such as the acrania/anencephaly sequence, posterior fossa cysts (Dandy-Walker malformation), and large cephaloceles. Although the prenatal diagnosis of holoprosencephaly in the first trimester has been reported by several authors, 7 10 to our knowledge, no reports on the systematic evaluation of the choroid plexuses for the screening of holoprosencephaly have been described thus far. In a low-risk population, the first-trimester diagnosis of holoprosencephaly may be elusive if a systematic review of the fetal brain is not performed. Hernadi and Torocsik 16 and D Ottavio et al 17 were unable to detect the single cases of holoprosencephaly in their series of 3991 and 3490 low-risk women, respectively, screened sonographically in the first trimester. However, in 2 other series involving a total of 4485 low-risk pregnancies undergoing first-trimester sonographic screening for nuchal translucency measurements, all 3 cases of holoprosencephaly were diagnosed in the first trimester. 18,19 Although no specific method for achieving this diagnosis was reported by the authors, the latter 2 groups followed the recommendation of the Fetal Medicine Foundation, 4,5 as we did. Therefore, these preliminary data suggest that the routine sonographic evaluation of the butterfly sign at the time of nuchal translucency thickness measurement may be useful for the early prenatal diagnosis of holoprosencephaly, both in high- and low-risk populations. References 1. Peebles DM. Holoprosencephaly. Prenat Diagn 1998; 18: Blaas HGK, Eriksson AG, Salvesen KA, et al. Brains and faces in holoprosencephaly: pre- and postnatal description of 30 cases. Ultrasound Obstet Gynecol 2002; 19: McGahan JP, Pilu G, Nyberg DA. Cerebral malformations. In: Nyberg DA, McGahan JP, Pretorius DH, Pilu G (eds). Diagnostic Imaging of Fetal Anomalies. Philadelphia, PA: Lippincott Williams & Wilkins; 2003: Snijders RJ, Noble P, Sebire N, Souka A, Nicolaides KH. UK multicentre project on assessment of risk of trisomy 21 by maternal age and fetal nuchal-translucency thickness at weeks gestation. Fetal Medicine Foundation First Trimester Screening Group. Lancet 1998; 352: Nicolaides KH, Sebire NJ, Snijders RJM (eds). The Week Scan. The Diagnosis of Fetal Abnormalities. Carnforth, England: Parthenon Publishing; Souka AP, Nicolaides KH. Diagnosis of fetal abnormalities at the week scan. Ultrasound Obstet Gynecol 1997; 10: Nelson LH, King M. Early diagnosis of holoprosencephaly. J Ultrasound Med 1992; 11: J Ultrasound Med 23: , 2004

5 Sepulveda et al 8. van Zalen-Sprock R, van Vugt JMG, van der Harten HJ, Nieuwint AW, van Geijn HP. First-trimester diagnosis of cyclopia and holoprosencephaly. J Ultrasound Med 1995; 14: Wong HS, Lam YH, Tang MHY, Cheung LW, Ng LK, Yan KW. First-trimester ultrasound diagnosis of holoprosencephaly: three case reports. Ultrasound Obstet Gynecol 1999; 13: Tongsong T, Wanapirak C, Chanprapaph P, Siriangkul S. First trimester sonographic diagnosis of holoprosencephaly. Int J Gynaecol Obstet 1999; 66: Berry SM, Gosden C, Snijders RJ, Nicolaides KH. Fetal holoprosencephaly: associated malformations and chromosomal defects. Fetal Diagn Ther 1990; 5: Snijders RJ, Sebire NJ, Nayar R, Souka A, Nicolaides KH. Increased nuchal translucency in trisomy 13 fetuses at weeks gestation. Am J Med Genet 1999; 86: Tongsong T, Sirichotiyakul S, Wanapirak C, Chanprapaph P. Sonographic features of trisomy 13 at midpregnancy. Int J Gynaecol Obstet 2002; 76: Lehman CD, Nyberg DA, Winter TC, Kapur RP, Resta RG, Luthy DA. Trisomy 13 syndrome: prenatal US findings in a review of 33 cases. Radiology 1995; 194: Whitlow BJ, Economides DL. The optimal gestational age to examine fetal anatomy and measure nuchal translucency in the first trimester. Ultrasound Obstet Gynecol 1998; 11: Hernadi L, Torocsik M. Screening for fetal anomalies in the 12th week of pregnancy by transvaginal sonography in an unselected population. Prenat Diagn 1997; 17: D Ottavio G, Meir YJ, Rustico MA, et al. Screening for fetal anomalies by ultrasound at 14 and 21 weeks. Ultrasound Obstet Gynecol 1997; 10: Economides DL, Braithwaite JM. First trimester ultrasonographic diagnosis of fetal structural anomalies in a low risk population. Br J Obstet Gynaecol 1998; 105: Carvalho MH, Brizot ML, Lopes LM, Chiba CH, Miyadahira S, Zugaib M. Detection of fetal structural anomalies at the week ultrasound scan. Prenat Diagn 2002; 22:1 4. J Ultrasound Med 23: ,

Sonographic screening for trisomy 13 at 11 to 13 D6 weeks of gestation

Sonographic screening for trisomy 13 at 11 to 13 D6 weeks of gestation American Journal of Obstetrics and Gynecology (2006) 194, 397 401 www.ajog.org Sonographic screening for trisomy 13 at 11 to 13 D6 weeks of gestation Aris T. Papageorghiou, MD, a Kyriaki Avgidou, MD, a

More information

Clinical Significance of First Trimester Umbilical Cord Cysts

Clinical Significance of First Trimester Umbilical Cord Cysts Clinical Significance of First Trimester Umbilical Cord Cysts Waldo Sepulveda, MD, Sergio Leible, MD, Angel Ulloa, MD, Milenko Ivankovic, MD, Carlos Schnapp, MD A cystic mass of the umbilical cord was

More information

Screening for chromosomal abnormalities at 10 14 weeks: the role of ductus venosus blood flow

Screening for chromosomal abnormalities at 10 14 weeks: the role of ductus venosus blood flow Ultrasound Obstet Gynecol 1998;12:380 384 Screening for chromosomal abnormalities at 10 14 weeks: the role of ductus venosus blood flow A. Matias*, C. Gomes*, N. Flack*, N. Montenegro and K. H. Nicolaides*

More information

Frontomaxillary and mandibulomaxillary facial angles at 11 + 0to13+ 6 weeks in fetuses with trisomy 18

Frontomaxillary and mandibulomaxillary facial angles at 11 + 0to13+ 6 weeks in fetuses with trisomy 18 Ultrasound Obstet Gynecol 2007; 30: 928 933 Published online 1 November 2007 in Wiley InterScience (www.interscience.wiley.com). DOI: 10.2/uog.5188 Frontomaxillary and mandibulomaxillary facial angles

More information

Ultrasonographic Diagnosis of Trisomy 18: Is It Practical in the Early Second Trimester?

Ultrasonographic Diagnosis of Trisomy 18: Is It Practical in the Early Second Trimester? Ultrasonographic Diagnosis of Trisomy 18: Is It Practical in the Early Second Trimester? Laurence E. Shields, MD, Leslie A. Carpenter, MS, CGC, Karin M. Smith, RDMS, Hanh V. Nghiem, MD The objective of

More information

Fetal Prognosis in Varix of the Intrafetal Umbilical Vein

Fetal Prognosis in Varix of the Intrafetal Umbilical Vein Fetal Prognosis in Varix of the Intrafetal Umbilical Vein Waldo Sepulveda, MD, Antonio Mackenna, MD, Jorge Sanchez, MD, Edgardo Corral, MD, Eduardo Carstens, MD To assess the clinical significance of varix

More information

Maternal serum free b-hcg and PAPP-A in fetal sex chromosome defects in the rst trimester

Maternal serum free b-hcg and PAPP-A in fetal sex chromosome defects in the rst trimester PRENATAL DIAGNOSIS Prenat Diagn 2000; 20: 390±394. Maternal serum free b-hcg and PAPP-A in fetal sex chromosome defects in the rst trimester Kevin Spencer 1 *, Natasha Tul 2 and Kypros H. Nicolaides 2

More information

Fetal Lateral Ventricular Width: What Should Be Its Upper Limit?

Fetal Lateral Ventricular Width: What Should Be Its Upper Limit? Article Fetal Lateral Ventricular Width: What Should Be Its Upper Limit? A Prospective Cohort Study and Reanalysis of the Current and Previous Data Benny Almog, MD, Ronni Gamzu, MD, PhD, Reuven Achiron,

More information

Down s Syndrome: Ultrasound Screening

Down s Syndrome: Ultrasound Screening October 2001 Down s Syndrome: Ultrasound Screening Hilary Hochberg Advanced Radiology Clerkship Dr. Gillian Lieberman Patient M.C. 32 year old female presents at 16 weeks gestational age with abnormal

More information

Inclusion of Early Fetal Deaths in a Birth Defects Surveillance System

Inclusion of Early Fetal Deaths in a Birth Defects Surveillance System TERATOLOGY 64:S20 S25 (2001) Inclusion of Early Fetal Deaths in a Birth Defects Surveillance System MATHIAS B. FORRESTER AND RUTH D. MERZ* Hawaii Birth Defects Program, Honolulu, Hawaii 96817 ABSTRACT

More information

Screening for trisomy 21 by fetal tricuspid regurgitation, nuchal translucency and maternal serum free β-hcg and PAPP-A at 11 + 0to13+ 6 weeks

Screening for trisomy 21 by fetal tricuspid regurgitation, nuchal translucency and maternal serum free β-hcg and PAPP-A at 11 + 0to13+ 6 weeks Ultrasound Obstet Gynecol 2006; 27: 151 155 Published online 30 December 2005 in Wiley InterScience (www.interscience.wiley.com). DOI: 10.1002/uog.2699 Screening for trisomy 21 by fetal tricuspid regurgitation,

More information

Clinical Studies Abstract Booklet

Clinical Studies Abstract Booklet Clinical Studies Abstract Booklet The Harmony Prenatal Test is a non-invasive prenatal test (NIPT) that assesses the risk of trisomies by analyzing cell-free DNA (cfdna) in maternal blood. Since January

More information

The ultrasound detection of chromosomal anomalies 1

The ultrasound detection of chromosomal anomalies 1 The ultrasound detection of chromosomal anomalies 1 Werther Adrian Clavelli, MD 2, Silvia Susana Romaris de Clavelli, MD 2, Philippe Jeanty, MD, PhD 3 Adapted from The Ultrasound Detection of Chromosomal

More information

11 13 +6 Weeks Scan Project Newsletter

11 13 +6 Weeks Scan Project Newsletter USA FETAL MEDICINE FOUNDATION OF THE UNITED STATES OF A MERICA Non-profit Registration No.1635069 July 2007 11 13 +6 Weeks Scan Project Naomi Greene MPH RDMS RDCS 3940 Laurel Canyon Blvd. #838 Studio City,

More information

Early (14-16 week) scan vs

Early (14-16 week) scan vs Early (14-16 week) scan vs late (18-22 week) scan Logie Govender Maternal & Fetal Medicine Lower Umfolozi District War Memorial Hospital, Empangeni Nelson R Mandela School of Medicine University of KwaZulu-Natal

More information

Trisomies 13 and 18. -Maternal age. (Patau and Edward s syndrome)

Trisomies 13 and 18. -Maternal age. (Patau and Edward s syndrome) Trisomies 13 and 18 (Patau and Edward s syndrome) Trisomy 21 (Down syndrome) is the commonest chromosomal disorder at birth, and has been considered in detail in previous annual reports 23. Other relatively

More information

Prognosis of Very Large First-Trimester Hematomas

Prognosis of Very Large First-Trimester Hematomas Case Series Prognosis of Very Large First-Trimester Hematomas Juliana Leite, MD, Pamela Ross, RDMS, RDCS, A. Cristina Rossi, MD, Philippe Jeanty, MD, PhD Objective. The aim of this study was to evaluate

More information

Information for Your Patients

Information for Your Patients Information for Your Patients What is first trimester risk assessment for Down syndrome? First trimester screening for Down syndrome, also known as nuchal translucency screening, is a test offered to women

More information

Long-Term Prognosis of Pregnancies Complicated by Slow Embryonic Heart Rates in the Early First Trimester

Long-Term Prognosis of Pregnancies Complicated by Slow Embryonic Heart Rates in the Early First Trimester Long-Term Prognosis of Pregnancies Complicated by Slow Embryonic Heart Rates in the Early First Trimester Peter M. Doubilet, MD, PhD, Carol B. Benson, MD, Jeanne S. Chow, MD Slow embryonic heart rates

More information

SOFT FETAL ULTRASOUND FINDINGS

SOFT FETAL ULTRASOUND FINDINGS SOFT FETAL ULTRASOUND FINDINGS Compiled by the Genetics Team at The Credit Valley Hospital Last updated February 2008 Page 2 This document refers to the ultrasound finding of a soft sign, as compared

More information

Prenatal screening and diagnostic tests

Prenatal screening and diagnostic tests Prenatal screening and diagnostic tests Contents Introduction 3 First trimester routine tests in the mother 3 Testing for health conditions in the baby 4 Why would you have a prenatal test? 6 What are

More information

Clinical Significance of Placenta Previa Detected at Early Routine Transvaginal Scan

Clinical Significance of Placenta Previa Detected at Early Routine Transvaginal Scan Clinical Significance of Placenta Previa Detected at Early Routine Transvaginal Scan Paolo Rosati, MD, Lorenzo Guariglia, MD Transvaginal ultrasonography in early pregnancy was used to determine the prevalence

More information

Embryonic Heart Rate as a Prognostic Factor for Chromosomal Abnormalities

Embryonic Heart Rate as a Prognostic Factor for Chromosomal Abnormalities CME Article Embryonic Heart Rate as a Prognostic Factor for Chromosomal Abnormalities Deniz Oztekin, MD, Ozgur Oztekin, MD, Fatma I. Aydal, MD, Sivekar Tinar, MD, Zehra H. Adibelli, MD Objective. The purpose

More information

echocardiography practice and try to determine the ability of each primary indication to identify congenital heart disease. Patients and Methods

echocardiography practice and try to determine the ability of each primary indication to identify congenital heart disease. Patients and Methods 29 ABNORMAL CARDIAC FINDINGS IN PRENATAL SONOGRAPHIC EXAMINATION: AN IMPORTANT INDICATION FOR FETAL ECHOCARDIOGRAPHY? RIMA SAMI BADER Aim: The present study was conducted to evaluate the most common indications

More information

Nasal bone assessment in fetuses with trisomy 21 at 16 24 weeks of gestation by three-dimensional ultrasound

Nasal bone assessment in fetuses with trisomy 21 at 16 24 weeks of gestation by three-dimensional ultrasound DOI: 10.1002/pd.2938 ORIGINAL ARTICLE Nasal bone assessment in fetuses with trisomy 21 at 16 24 weeks of gestation by three-dimensional ultrasound Nicola Persico 1,2 *, Francisca Molina 3, Guillermo Azumendi

More information

Isolated Sonographic Markers for Detection of Fetal Down Syndrome in the Second Trimester of Pregnancy

Isolated Sonographic Markers for Detection of Fetal Down Syndrome in the Second Trimester of Pregnancy Isolated Sonographic Markers for Detection of Fetal Down Syndrome in the Second Trimester of Pregnancy David A. Nyberg, MD, Vivienne L. Souter, MD, Amira El-Bastawissi, MBCB, PhD, Scott Young, MD, Fred

More information

cfdna in maternal plasma obtained from a population undergoing routine screening at 11-13 weeks gestation.

cfdna in maternal plasma obtained from a population undergoing routine screening at 11-13 weeks gestation. Reports of Major Impact www.ajog.org Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population Kypros H. Nicolaides, MD; Argyro Syngelaki, RM; Ghalia Ashoor, MD;

More information

Patient information on soft markers

Patient information on soft markers Patient information on soft markers Before you read this section remember the following important points. The vast majority of babies with soft markers are normal. Soft markers are frequently seen in healthy

More information

The 11 13 +6 weeks scan

The 11 13 +6 weeks scan The 11 13 +6 weeks scan Kypros H. Nicolaides The 11 13 +6 weeks scan Fetal Medicine Foundation, London 2004 Dedication to Herodotos & Despina Contents Introduction 1. First trimester diagnosis of chromosomal

More information

The First Trimester Anatomy Scan. John R. Allbert, MD Novant Maternal-Fetal Medicine Associates

The First Trimester Anatomy Scan. John R. Allbert, MD Novant Maternal-Fetal Medicine Associates The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates Anatomic Survey Second trimester (18-22 week) scan remains the gold standard First trimester evaluation of

More information

Best Second Trimester Sonographic Markers for the Detection of Trisomy 21

Best Second Trimester Sonographic Markers for the Detection of Trisomy 21 Best Second Trimester Sonographic Markers for the Detection of Trisomy 21 Patrizia Vergani, MD, Anna Locatelli, MD, Maria Giovanna Piccoli, MD, Patrizia Ceruti, MD, Eloisa Mariani, MD, John C. Pezzullo,

More information

fi АУ : fi apple Ав Ав АУ . apple, АУ fiав Ав. АК applefi АУ, АУАв Ав fi АУ apple fi Ав. А applefi АУ АУ АУ АсА» Ас Ам, длappleapple Ас...

fi АУ : fi apple Ав Ав АУ . apple, АУ fiав Ав. АК applefi АУ, АУАв Ав fi АУ apple fi Ав. А applefi АУ АУ АУ АсА» Ас Ам, длappleapple Ас... АВАВАКдлАмА дла длама АсАядлАмА АВА АсдлАя & MАядлдлАмАК TА. 4, T. 2, АВ. 113-118, 2005 fi АУ : Аяapplefi. fiapple АсА» Ас Ам, длappleapple Ас..., Ая: Аяapplefi. fiapple, АВАУ Ас, АсА» Ас Ам длappleapple

More information

Clinical and Cost Consequences of Incorporating a Novel Non-Invasive Prenatal Test into the Diagnostic Pathway for Fetal Trisomies

Clinical and Cost Consequences of Incorporating a Novel Non-Invasive Prenatal Test into the Diagnostic Pathway for Fetal Trisomies Clinical and Cost Consequences of Incorporating a Novel Non-Invasive Prenatal Test into the Diagnostic Pathway for Fetal Trisomies Susan S. Garfield, DrPH; Shannon O. Armstrong, BA Summary Background:

More information

Evaluation and Follow-up of Fetal Hydronephrosis

Evaluation and Follow-up of Fetal Hydronephrosis Evaluation and Follow-up of Fetal Hydronephrosis Deborah M. Feldman, MD, Marvalyn DeCambre, MD, Erin Kong, Adam Borgida, MD, Mujgan Jamil, MBBS, Patrick McKenna, MD, James F. X. Egan, MD Objective. To

More information

Ultrasound evaluation of fetal gender at 12 14 weeks

Ultrasound evaluation of fetal gender at 12 14 weeks Ultrasound evaluation of fetal gender at 12 14 weeks Marek Lubusky a,b, Martina Studnickova a, Ales Skrivanek a, Katherine Vomackova c, Martin Prochazka a Aims. The aim of this study was to assess the

More information

Non-Invasive Prenatal Testing (NIPT) Factsheet

Non-Invasive Prenatal Testing (NIPT) Factsheet Introduction NIPT, which analyzes cell-free fetal DNA circulating in maternal blood, is a new option in the prenatal screening and testing paradigm for trisomy 21 and a few other fetal chromosomal aneuploidies.

More information

i_~~~~~~~~~~~~~~~~~~~~- A _L,"'...S.::.. E, pad - report of 92 cases with follow up of Antenatal diagnosis of cystic hygroma or nuchal survivors

i_~~~~~~~~~~~~~~~~~~~~- A _L,'...S.::.. E, pad - report of 92 cases with follow up of Antenatal diagnosis of cystic hygroma or nuchal survivors F38 Archives ofdisease in Childhood 1996; 74: F38-F42 Antenatal diagnosis of cystic hygroma or nuchal pad - report of 92 cases with follow up of survivors P A Boyd, M Y Anthony, N Manning, C Lara Rodriguez,

More information

Correspondence: Dr K. Spencer, Endocrine Unit, Clinical Biochemistry Department, Harold Wood Hospital, Gubbins Lane, Romford, Essex, RM3 0BE, UK

Correspondence: Dr K. Spencer, Endocrine Unit, Clinical Biochemistry Department, Harold Wood Hospital, Gubbins Lane, Romford, Essex, RM3 0BE, UK Ultrasound Obstet Gynecol 1999;:231 237 A screening program for trisomy 21 at 10 14 using fetal nuchal translucency, maternal serum free β-human chorionic gonadotropin and pregnancy-associated plasma protein-a

More information

Fetal echocardiography at 11 13 weeks by transabdominal high-frequency ultrasound

Fetal echocardiography at 11 13 weeks by transabdominal high-frequency ultrasound Ultrasound Obstet Gynecol 2011; 37: 296 301 Published online 10 February 2011 in Wiley Online Library (wileyonlinelibrary.com). DOI: 10.1002/uog.8934 Fetal echocardiography at 11 13 weeks by transabdominal

More information

Myometrial Thickness in Pregnancy: Longitudinal Sonographic Study

Myometrial Thickness in Pregnancy: Longitudinal Sonographic Study Myometrial Thickness in Pregnancy: Longitudinal Sonographic Study Shimon Degani, MD, Zvi Leibovitz, MD, Israel Shapiro, MD, Ron Gonen, MD, Gonen Ohel, MD The purpose of this study was to evaluate in vivo

More information

Fetal Escape From the Amniotic Sac

Fetal Escape From the Amniotic Sac Case Report Fetal Escape From the Amniotic Sac Follow-up From First Trimester to Delivery Zvi Leibovitz, MD, Shlomi Barak, MD, Simon Degani, MD, Israel Shapiro, MD, Gonen Ohel, MD Rupture of the amniotic

More information

Objectives. Disclosures 4/22/2012. Next-Gen DNA Sequencing in Prenatal Screening for Down Syndrome: How is it best used? Barbara M.

Objectives. Disclosures 4/22/2012. Next-Gen DNA Sequencing in Prenatal Screening for Down Syndrome: How is it best used? Barbara M. Next-Gen DNA Sequencing in Prenatal Screening for Down Syndrome: How is it best used? Barbara M. O Brien, MD Women & Infants Hospital Alpert Medical School of Brown University Providence, RI Women & Infants

More information

First Trimester Screening for Down Syndrome

First Trimester Screening for Down Syndrome First Trimester Screening for Down Syndrome What is first trimester risk assessment for Down syndrome? First trimester screening for Down syndrome, also known as nuchal translucency screening, is a test

More information

Genetic Screening and Pregnancy: Selecting the Best Test for Your Patient

Genetic Screening and Pregnancy: Selecting the Best Test for Your Patient Genetic Screening and Pregnancy: Selecting the Best Test for Your Patient Britton Rink, MD, MS The Ohio State University Division of Maternal Fetal Medicine ACOG Practice Bulletin January 2007 Screening

More information

Increased fetal nuchal translucency at 11 14 weeks

Increased fetal nuchal translucency at 11 14 weeks PRENATAL DIAGNOSIS Prenat Diagn 2002; 22: 308 315. Published online in Wiley InterScience (www.interscience.wiley.com). DOI: 10.1002/ pd.308 Increased fetal nuchal translucency at 11 14 weeks Kypros H.

More information

Prenatal Testing Special tests for your baby during pregnancy

Prenatal Testing Special tests for your baby during pregnancy English April 2006 [OTH-7750] There are a number of different prenatal (before birth) tests to check the development of your baby. Each test has advantages and disadvantages. This information is for people

More information

Charts of fetal size: limb bones

Charts of fetal size: limb bones BJOG: an International Journal of Obstetrics and Gynaecology August 2002, Vol. 109, pp. 919 929 Charts of fetal size: limb bones Lyn S. Chitty a, *, Douglas G. Altman b Objective To construct new size

More information

Sonographic Appearance of Early Complete Molar Pregnancies

Sonographic Appearance of Early Complete Molar Pregnancies Sonographic Appearance of Early Complete Molar Pregnancies Elizabeth Lazarus, MD, Carol A. Hulka, MD, Bettina Siewert, MD, Deborah Levine, MD Since our anecdotal experience indicates that the classically

More information

A reassessment of biochemical marker distributions in trisomy 21-affected and unaffected twin pregnancies in the first trimester

A reassessment of biochemical marker distributions in trisomy 21-affected and unaffected twin pregnancies in the first trimester Ultrasound Obstet Gynecol 2011; 37: 38 47 Published online 7 December 2010 in Wiley Online Library (wileyonlinelibrary.com). DOI: 10.1002/uog.8845 A reassessment of biochemical marker distributions in

More information

A test your patients can trust.

A test your patients can trust. A test your patients can trust. A simple, safe, and accurate non-invasive prenatal test for early risk assessment of Down syndrome and other conditions. informaseq Prenatal Test Simple, safe, and accurate

More information

First-Trimester Cesarean Scar Pregnancy Evolving Into Placenta Previa/Accreta at Term

First-Trimester Cesarean Scar Pregnancy Evolving Into Placenta Previa/Accreta at Term Case Report First-Trimester Cesarean Scar Pregnancy Evolving Into Placenta Previa/Accreta at Term Jara Ben Nagi, MD, Dede Ofili-Yebovi, MD, Mike Marsh, MD, Davor Jurkovic, MD Placenta accreta is a rare

More information

THE USE OF FIRST TRIMESTER ULTRASOUND

THE USE OF FIRST TRIMESTER ULTRASOUND SOGC CLINICAL PRACTICE GUIDELINES THE USE OF FIRST TRIMESTER ULTRASOUND This guideline has been reviewed by the Diagnostic Imaging Committee and approved by the Executive and Council of the Society of

More information

Dose dependency between cigarette consumption and reduced maternal serum PAPP-A levels at weeks of gestation

Dose dependency between cigarette consumption and reduced maternal serum PAPP-A levels at weeks of gestation PRENATAL DIAGNOSIS Prenat Diagn 2007; 27: 849 853. Published online 25 June 2007 in Wiley InterScience (www.interscience.wiley.com).1793 Dose dependency between cigarette consumption and reduced maternal

More information

Nuchal translucency and cystic hygroma colli in screening for fetal major congenital heart defects in a series of euploid pregnancies

Nuchal translucency and cystic hygroma colli in screening for fetal major congenital heart defects in a series of euploid pregnancies Ultrasound Obstet Gynecol 2010; 35: 273 279 Published online in Wiley InterScience (www.interscience.wiley.com). DOI: 10.1002/uog.7534 Nuchal translucency and cystic hygroma colli in screening for fetal

More information

Non-invasive prenatal testing. Contents:

Non-invasive prenatal testing. Contents: february 2014 A REGULAR CASE-BASED SERIES ON PRACTICAL PATHOLOGY FOR GPs Contents: What is non-invasive prenatal testing? Screening test vs diagnostic tests Case studies Who should be offered NIPT? Non-invasive

More information

CHROMOSOMES Dr. Fern Tsien, Dept. of Genetics, LSUHSC, NO, LA

CHROMOSOMES Dr. Fern Tsien, Dept. of Genetics, LSUHSC, NO, LA CHROMOSOMES Dr. Fern Tsien, Dept. of Genetics, LSUHSC, NO, LA Cytogenetics is the study of chromosomes and their structure, inheritance, and abnormalities. Chromosome abnormalities occur in approximately:

More information

Neural tube defects: open spina bifida (also called spina bifida cystica)

Neural tube defects: open spina bifida (also called spina bifida cystica) Screening Programmes Fetal Anomaly Neural tube defects: open spina bifida (also called spina bifida cystica) Information for health professionals Publication date: April 2012 Review date: April 2013 Version

More information

A Guide to Prenatal Genetic Testing

A Guide to Prenatal Genetic Testing Patient Education Page 29 A Guide to Prenatal Genetic Testing This section describes prenatal tests that give information about your baby s health. It is your choice whether or not to have these tests

More information

Ultrasonography of the Fetal Thyroid

Ultrasonography of the Fetal Thyroid Article Ultrasonography of the Fetal Thyroid Nomograms Based on Biparietal Diameter and Gestational Age Angela C. Ranzini, MD, Cande V. Ananth, PhD, MPH, John C. Smulian, MD, MPH, Michelle Kung, Anita

More information

Implementation of maternal blood cell-free DNA testing in early screening for aneuploidies

Implementation of maternal blood cell-free DNA testing in early screening for aneuploidies Ultrasound Obstet Gynecol 2013; 42: 34 40 Published online 7 June 2013 in Wiley Online Library (wileyonlinelibrary.com). DOI: 10.1002/uog.12504 Implementation of maternal blood cell-free DNA testing in

More information

3D Ultrasound. Outline. What is 3D US? Volume Sonography. 3D Ultrasound in Obstetrics: Current Modalities & Future Potential. Alfred Abuhamad, M.D.

3D Ultrasound. Outline. What is 3D US? Volume Sonography. 3D Ultrasound in Obstetrics: Current Modalities & Future Potential. Alfred Abuhamad, M.D. in Obstetrics: Current Modalities & Future Potential Outline What is 3D US? What are obvious advantages of 3D US? What is the future of 3D US? Alfred Abuhamad, M.D. Eastern Virginia Medical School 2D US

More information

Fetal size and dating: charts recommended for clinical obstetric practice

Fetal size and dating: charts recommended for clinical obstetric practice Fetal size and dating: charts recommended for clinical obstetric practice Pam Loughna 1, Lyn Chitty 2, Tony Evans 3 & Trish Chudleigh 4 1 Academic Division of Obstetrics and Gynaecology, Nottingham University

More information

The National Down Syndrome Cytogenetic Register for England and Wales: 2008/9 Annual Report

The National Down Syndrome Cytogenetic Register for England and Wales: 2008/9 Annual Report 0 The National Down Syndrome Cytogenetic Register for England and Wales: 2008/9 Annual Report Joan K Morris, Elizabeth De Souza December 2009 National Down Syndrome Cytogenetic Register Queen Mary University

More information

LEUKODYSTROPHY GENETICS AND REPRODUCTIVE OPTIONS FOR AFFECTED FAMILIES. Leila Jamal, ScM Kennedy Krieger Institute, Baltimore MD

LEUKODYSTROPHY GENETICS AND REPRODUCTIVE OPTIONS FOR AFFECTED FAMILIES. Leila Jamal, ScM Kennedy Krieger Institute, Baltimore MD LEUKODYSTROPHY GENETICS AND REPRODUCTIVE OPTIONS FOR AFFECTED FAMILIES Leila Jamal, ScM Kennedy Krieger Institute, Baltimore MD 2 Outline Genetics 101: Basic Concepts and Myth Busting Inheritance Patterns

More information

your questions answered the reassurance of knowing A guide for parents-to-be on noninvasive prenatal testing.

your questions answered the reassurance of knowing A guide for parents-to-be on noninvasive prenatal testing. your questions answered the reassurance of knowing A guide for parents-to-be on noninvasive prenatal testing. Accurate answers about your baby s health simply, safely, sooner. What is the verifi Prenatal

More information

Gutenberg Center in MALAGA

Gutenberg Center in MALAGA Introduction Gutenberg Center in MALAGA Gutenberg Center in Málaga opened in 1987 as a clinic to provide integral assisstance for women, divided into 6 Units, specialized in the different aspects of Obs

More information

journal of medicine The new england First-Trimester or Second-Trimester Screening, or Both, for Down s Syndrome abstract

journal of medicine The new england First-Trimester or Second-Trimester Screening, or Both, for Down s Syndrome abstract The new england journal of medicine established in 1812 november 10, 2005 vol. 353 no. 19 First-Trimester or Second-Trimester Screening, or Both, for Down s Syndrome Fergal D. Malone, M.D., Jacob A. Canick,

More information

An introduction to fetal neurosonography using three-dimensional ultrasound

An introduction to fetal neurosonography using three-dimensional ultrasound An introduction to fetal neurosonography using three-dimensional ultrasound Taddei F, Fratelli N, Prefumo F, Franceshetti L, Signorelli M and Frusca T Maternal Fetal Medicine Unit, Department of Obstetrics

More information

Multiple Pregnancies: Determining Chorionicity and Amnionicity

Multiple Pregnancies: Determining Chorionicity and Amnionicity Thomas Jefferson University Jefferson Digital Commons Department of Radiologic Sciences Faculty Papers Department of Radiologic Sciences January 2006 Multiple Pregnancies: Determining Chorionicity and

More information

Trisomy 13 (also called Patau s syndrome or T13)

Trisomy 13 (also called Patau s syndrome or T13) Screening Programmes Fetal Anomaly Trisomy 13 (also called Patau s syndrome or T13) Information for parents Publication date: April 2012 Review date: April 2013 Version 2 117 Information sheet to help

More information

Executive summary. Current prenatal screening

Executive summary. Current prenatal screening Executive summary Health Council of the Netherlands. NIPT: dynamics and ethics of prenatal screening. The Hague: Health Council of the Netherlands, 2013; publication no. 2013/34. In recent years, new tests

More information

Intrauterine sonographic assessments of embryonic heart diameter

Intrauterine sonographic assessments of embryonic heart diameter Human Reproduction vol.12 no.10 pp.2286 2291, 1997 Intrauterine sonographic assessments of embryonic heart diameter Toshiyuki Hata 1, Daisaku Senoh, Kohkichi Hata and Kohji Miyazaki Department of Obstetrics

More information

CONFIDENT CODING FOR OB/GYN CONFIDENT CODING FOR OB/GYN

CONFIDENT CODING FOR OB/GYN CONFIDENT CODING FOR OB/GYN Arlene J. Smith, CPC AAPC National Advisory Board 2007-2009 1 So when exactly does the global period start? Unraveling the confusion in antepartum care coding Correct coding for multiple gestations! Vaginal

More information

Incorporating DNA sequencing into current prenatal screening practice for Down s syndrome

Incorporating DNA sequencing into current prenatal screening practice for Down s syndrome 1 Incorporating DNA sequencing into current prenatal screening practice for Down s syndrome Nicholas J Wald FRS* Wolfson Institute of Preventive Medicine Barts and the London School of Medicine and Dentistry

More information

Sequencing-based Tests to Determine Trisomy 21 from Maternal Plasma DNA

Sequencing-based Tests to Determine Trisomy 21 from Maternal Plasma DNA Sequencing-based Tests to Determine Trisomy 21 from Maternal Plasma DNA Policy Number: Original Effective Date: MM.03.006 09/01/2013 Line(s) of Business: Current Effective Date: HMO; PPO; QUEST 09/01/2013

More information

Clinical Policy: Ultrasound in Pregnancy Reference Number: CP.MP.38

Clinical Policy: Ultrasound in Pregnancy Reference Number: CP.MP.38 Clinical Policy: Reference Number: CP.MP.38 Effective Date: 02/11 Last Review Date: 08/15 Revision Log Coding Implications See Important Reminder at the end of this policy for important regulatory and

More information

The First Trimester Screening program

The First Trimester Screening program The First Trimester Screening program The Fetal Medicine Foundation This guide has been designed to highlight the important clinical aspects of using the First Trimester Screening program. It is not intended

More information

Fetuses With Trisomy 21 Having Conflicting Findings on Antenatal Testing for Fetal Well-being

Fetuses With Trisomy 21 Having Conflicting Findings on Antenatal Testing for Fetal Well-being Case Series Fetuses With Trisomy 21 Having Conflicting Findings on Antenatal Testing for Fetal Well-being Geoffrey Wong, MD, Deborah Levine, MD Objective. This series reports 3 cases with conflicting antenatal

More information

Genetics in Family Medicine: The Australian Handbook for General Practitioners Testing and pregnancy

Genetics in Family Medicine: The Australian Handbook for General Practitioners Testing and pregnancy Genetics in Family Medicine: The Australian Handbook for General Practitioners Testing and pregnancy Testing and pregnancy GP s role 3 Counselling before and during pregnancy 3 Collecting the family history

More information

What is the diagnostic value of ultrasound for determining a viable intrauterine pregnancy?

What is the diagnostic value of ultrasound for determining a viable intrauterine pregnancy? What is the diagnostic value of ultrasound for determining a viable intrauterine pregnancy? Full citation Sample size Tests Methods Results Limitations Steinkampf,M.P., Guzick,D.S., Hammond,K.R., Blackwell,R.E.,

More information

a new era in prenatal testing

a new era in prenatal testing TM a new era in prenatal testing TM What is? Non-Invasive Prenatal Testing (NIPT) represents a major advance in screening and risk assessment for chromosomal abnormalities. In January 2016, the UK National

More information

MASSIVELY PARALLEL SEQUENCING OF MATE RNAL PLASMA DNA IN 113 CASES OF FETAL NUCHAL CYSTIC HYGROMA

MASSIVELY PARALLEL SEQUENCING OF MATE RNAL PLASMA DNA IN 113 CASES OF FETAL NUCHAL CYSTIC HYGROMA Scuola di specializzazione in Genetica Medica Journal Club 14 gennaio 2014 MASSIVELY PARALLEL SEQUENCING OF MATE RNAL PLASMA DNA IN 113 CASES OF FETAL NUCHAL CYSTIC HYGROMA Bianchi, Diana W. MD; Prosen,

More information

Fetal loss following ultrasound diagnosis of a live fetus at 6 10 weeks of gestation

Fetal loss following ultrasound diagnosis of a live fetus at 6 10 weeks of gestation Ultrasound Obstet Gynecol 23; 22: 368 372 Published online 2 September 23 in Wiley InterScience (www.interscience.wiley.com). DOI: 1.12/uog.24 Fetal loss following ultrasound diagnosis of a live fetus

More information

Analytical goal setting in aneuploidy screening: within person biological variability of first trimester biochemical markers

Analytical goal setting in aneuploidy screening: within person biological variability of first trimester biochemical markers DOI: 10.1002/pd.4019 ORIGINAL ARTICLE Analytical goal setting in aneuploidy screening: within person biological variability of first trimester biochemical markers Kevin Spencer* and Nicholas J. Cowans

More information

Department of Obstetrics and Gynecology, Kayseri Military Hospital, Kayseri, Turkey

Department of Obstetrics and Gynecology, Kayseri Military Hospital, Kayseri, Turkey Orıgınal Article Obstetrics & Gynecology North Clin Istanbul 2015;2(2):92-100 doi: 10.14744/nci.2015.08370 A prospective study to assess the clinical impact of interobserver reliability of sonographic

More information

Noninvasive Prenatal Screening for Fetal Aneuploidies and Microdeletions Using Cell-Free Fetal DNA

Noninvasive Prenatal Screening for Fetal Aneuploidies and Microdeletions Using Cell-Free Fetal DNA MEDICAL POLICY POLICY RELATED POLICIES POLICY GUIDELINES DESCRIPTION SCOPE BENEFIT APPLICATION RATIONALE REFERENCES CODING APPENDIX HISTORY Noninvasive Prenatal Screening for Fetal Aneuploidies and Microdeletions

More information

Trisomy 13 detection in the first trimester of pregnancy using a chromosome-selective cell-free DNA analysis method

Trisomy 13 detection in the first trimester of pregnancy using a chromosome-selective cell-free DNA analysis method Trisomy 13 detection in the first trimester of pregnancy using a chromosome-selective cell-free DNA analysis method Ghalia ASHOOR 1, Argyro SYNGELAKI 1, Eric WANG 2, Craig STRUBLE 2, Arnold OLIPHANT 2,

More information

Effect of incorrect gestational dating on Down s syndrome and neural tube risk assessment

Effect of incorrect gestational dating on Down s syndrome and neural tube risk assessment Original Article Ann Clin Biochem 2001; 38: 230±234 Effect of incorrect gestational dating on Down s syndrome and neural tube risk assessment S N Millner From the Department of Pathology, University of

More information

Patient Education. intermountainhealthcare.org. A Guide to Prenatal Testing LIVING AND LEARNING TOGETHER

Patient Education. intermountainhealthcare.org. A Guide to Prenatal Testing LIVING AND LEARNING TOGETHER Patient Education intermountainhealthcare.org A Guide to Prenatal Testing LIVING AND LEARNING TOGETHER Most news is good news. Most babies are born without major birth defects. Early in your pregnancy,

More information

FIGO Good Practice Advice

FIGO Good Practice Advice FIGO Good Practice Advice 1. Screening for chromosomal abnormalities and non invasive prenatal diagnosis and testing Universal screening is a strategy applied to all individuals of a certain category to

More information

Noninvasive Prenatal Testing for Fetal Aneuploidies Using Cell- Free Fetal DNA

Noninvasive Prenatal Testing for Fetal Aneuploidies Using Cell- Free Fetal DNA Noninvasive Prenatal Testing for Fetal Aneuploidies Using Cell- Free Fetal DNA Policy Number: Original Effective Date: MM.03.006 09/01/2013 Line(s) of Business: Current Effective Date: HMO; PPO; QUEST

More information

The first 3,000 Non-Invasive Prenatal Tests (NIPT) with the Harmony test in Belgium and the Netherlands

The first 3,000 Non-Invasive Prenatal Tests (NIPT) with the Harmony test in Belgium and the Netherlands FVV in ObGyn, 2014, 6 (1): 7-12 Preliminary report The first 3,000 Non-Invasive Prenatal Tests (NIPT) with the Harmony test in Belgium and the Netherlands P.J. Willems 1, H. Dierickx 1, ES. Vandenakker

More information

REPRODUCTIVE ENDOCRINOLOGY

REPRODUCTIVE ENDOCRINOLOGY FERTILITY AND STERILITY VOL. 82, NO. 5, NOVEMBER 2004 Copyright 2004 American Society for Reproductive Medicine Published by Elsevier Inc. Printed on acid-free paper in U.S.A. REPRODUCTIVE ENDOCRINOLOGY

More information

A. Evidence for an individually adjustable standard to assess birth weight:

A. Evidence for an individually adjustable standard to assess birth weight: Customised antenatal growth charts are designed to facilitate better supervision of fetal growth. The chart is printed out in early pregnancy, after confirmation of pregnancy dates, and allows serial plotting

More information

Diagnostic Medical Sonography

Diagnostic Medical Sonography H. Councill Trenholm State Technical College 151 Location: Trenholm Campus Program Information Sonography, or ultrasonography, is the use of sound waves to generate an image for the assessment and diagnosis

More information

Clinical Policy Title: Array comparative genomic hybridization testing

Clinical Policy Title: Array comparative genomic hybridization testing Clinical Policy Title: Array comparative genomic hybridization testing Clinical Policy Number: 02.01.03 Effective Date: Sept 1, 2015 Initial Review Date: May 13, 2013 Most Recent Review Date: August 19,

More information

SIXTY-THIRD WORLD HEALTH ASSEMBLY A63/10 Provisional agenda item April Birth defects. Report by the Secretariat

SIXTY-THIRD WORLD HEALTH ASSEMBLY A63/10 Provisional agenda item April Birth defects. Report by the Secretariat SIXTY-THIRD WORLD HEALTH ASSEMBLY A63/10 Provisional agenda item 11.7 1 April 2010 Birth defects Report by the Secretariat 1. The report aims to inform the discussion on birth defects, including definition,

More information

Birth defects. Report by the Secretariat

Birth defects. Report by the Secretariat EXECUTIVE BOARD EB126/10 126th Session 3 December 2009 Provisional agenda item 4.7 Birth defects Report by the Secretariat 1. In May 2009 the Executive Board at its 125th session considered an agenda item

More information

1. PRENATAL DIAGNOSIS OF CHROMOSOMAL DISORDERS - molecular aspects

1. PRENATAL DIAGNOSIS OF CHROMOSOMAL DISORDERS - molecular aspects 1. PRENATAL DIAGNOSIS OF CHROMOSOMAL DISORDERS - molecular aspects Ana Stavljenić-Rukavina Zagreb University School of Medicine, Croatia The standard measures for population health outcomes is based on

More information

Sonographic Accuracy of Estimated Fetal Weight in Twins

Sonographic Accuracy of Estimated Fetal Weight in Twins ORIGINAL RESEARCH Sonographic Accuracy of Estimated Fetal Weight in Twins Lorie M. Harper, MD, MSCI, Kimberly A. Roehl, MPH, Methodius G. Tuuli, MD, MPH, Anthony O. Odibo, MD, MSCE, Alison G. Cahill, MD,

More information