Best Second Trimester Sonographic Markers for the Detection of Trisomy 21

Save this PDF as:
 WORD  PNG  TXT  JPG

Size: px
Start display at page:

Download "Best Second Trimester Sonographic Markers for the Detection of Trisomy 21"

Transcription

1 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, PhD, Alessandro Ghidini, MD We analyzed all genetic sonograms obtained during a 6 year period to establish the independent ability of the following sonographic markers of aneuploidy in the diagnosis of trisomy 21: structural anomalies, cardiac abnormalities, nuchal fold thickness of 6 mm or greater, bowel echogenicity, choroid plexus cysts, and renal pyelectasis. With the exception of bowel echogenicity and choroid plexus cysts, the sonographic markers were more common in trisomy 21 than euploid fetuses (all P < 0.001). Logistic regression analysis demonstrated that cardiac anomalies (odds ratio = 255; 95% confidence interval, 25, 2592), other structural anomalies (odds ratio = 25; 95% confidence interval, 6, 97), and nuchal fold thickness of 6 mm S econd trimester genetic amniocentesis carries an unavoidable risk of procedurerelated loss of normal fetuses. Several ABBREVIATIONS NFT, Nuchal fold thickness; FL, Femur length; HL, Humerus length; BPD, Biparietal diameter; SD, Standard deviation; OR, Odds ratio; CI, Confidence interval; ANOVA, Analysis of variance Received February 1, 1999, from the Divisione di Ostetricia e Ginecologia, Istituto di Scienze Biomediche San Gerardo, Monza, Italy (P.V., A.L., M.G.P., P.C., E.M.); and the Department of Obstetrics and Gynecology, Georgetown University Medical Center, Washington, DC (J.C.P., A.G.). Revised manuscript accepted for publication April 4, Address correspondence and reprint requests to Patrizia Vergani, MD, Department of Obstetrics and Gynecology, ISBM San Gerardo, via Solferino 16, Monza, Italy. or greater (odds ratio = 13; 95% confidence interval, 3, 50) were the only independent predictors of trisomy 21. The false-positive rate and sensitivity were 5.3% (48 of 898) and 59.2% (13 of 22), respectively, when any of the sonographic markers significant at univariate analysis was considered, and 3.1% (28 of 898) and 54.5% (12 of 22), respectively, when any of the predictors at multivariate analysis was present. Because a considerable overlap of sonographic markers exists among trisomy 21 fetuses, use of those that are not independent predictors leads to an increase in false-positive rate without a gain in sensitivity. KEY WORDS: Trisomy 21; Fetus, echocardiography; Fetus, anomalies; Down syndrome. authors have proposed serologic tests, such as maternal serum triple screening, during the early second trimester to adjust the maternal age related risk of fetal aneuploidy. 1,2 Similarly, ultrasonography offers the opportunity to better select candidates for prenatal diagnosis by using a series of markers that are present more frequently in aneuploid than euploid fetuses. 3 5 The term genetic sonogram has thus been coined. 6 As the number of proposed markers grows, the false-positive rate of the genetic sonogram inevitably increases. The repercussions of this approach are particularly worrisome in women without prior risk for trisomy 21, in whom the higher false-positive rates translate into a greater proportion of procedurerelated losses of euploid fetuses. To obviate this problem, multivariate analysis offers the optimal mode for selecting the markers with independent predictive ability that should be included in a genetic sonogram by the American Institute of Ultrasound in Medicine J Ultrasound Med 18: , /99/$3.50

2 470 SONOGRAPHIC MARKERS FOR TRISOMY 21 J Ultrasound Med 18: , 1999 In the current prospective cohort study, we evaluated a series of eight sonographic markers of trisomy 21 in an attempt to establish which ones are independent predictors. MATERIALS AND METHODS During a 6 year period (January 1, 1990, to December 31, 1996), all women with singleton fetuses receiving genetic counseling because of maternal age 35 years or older at delivery underwent a genetic sonogram during the early second trimester (14 to 22 weeks gestation). Maternal serum biochemical screening was not used in the study population. All ultrasonographic examinations were performed by six physicians with expertise in prenatal diagnosis and without prior knowledge of fetal karyotype. After excluding voluntary terminations of pregnancy, for which cases karyotype analysis was not available (n = 3), in utero deaths without available karyotype (n = 5), preterm neonatal death without karyotype (n = 1), and chromosome anomalies other than trisomy 21 (n = 11), 920 cases were available for analysis. The second trimester ultrasonographic examination (Ultramark 9, Advanced Technology Laboratories, Bothell, WA) included evaluation of fetal biometry and anatomy for detection of structural anomalies. Particular attention was also paid to the following ultrasonographic markers of aneuploidy: fourchamber view of the heart and outflow tracts with the use of color flow mapping, 7 NFT of 6 mm or greater, renal pyelectasis (anteroposterior diameter of renal pelvis greater than 4 mm), choroid plexus cysts, and hyperechogenic bowel (echogenicity similar to that of bones). Nuchal cystic hygromas were considered structural anomalies. Consenting women with a normal genetic sonogram obtained earlier than 18 weeks gestation were invited to return at 20 weeks for a more complete evaluation of the heart. Cytogenetic examinations were performed either by amniocentesis in consenting patients or at birth in cases in which it was clinically indicated if amniocentesis had been declined. Neonatal follow-up evaluation was available in 100% of cases. Statistical Analysis Regression analysis was performed for FL and HL measurements as functions of the BPD. Based on the regression equations, expected values of FL and HL for a given BPD were calculated, and the ratios of observed to expected values were compared between euploid and trisomy 21 fetuses. Univariate analysis was performed using one-way ANOVA for continuous variables and chi-square or Fisher s exact test for dichotomous variables. Logistic regression analysis was employed to correct for confounding variables. A P value less than 0.05 was considered significant. RESULTS Of the 920 women enrolled in the study, 22 had fetuses with trisomy 21. Mean gestational age at ultrasonography was 17.0 weeks (SD ± 1.7; range, 14 to 22 weeks). Mean maternal age was 38.4 years (SD ± 2.2; range, 35 to 47 years). Amniocentesis was performed in 311 of 898 (35%) euploid and 13 of 22 (59%) aneuploid cases (P < 0.001). Nine women with aneuploid fetuses declined prenatal cytogenetic testing despite the presence of fetal abnormalities in three of them. We had no false-negative prenatal diagnoses of major structural abnormalities or cardiac anomalies among trisomy 21 cases. The follow-up ultrasonographic examination at 20 weeks did not lead to detection of additional cardiac malformations. The ultrasonographic markers found in fetuses with trisomy 21 are shown in Table 1, whereas the results of univariate analysis are displayed in Table 2. Mean ± SD NFT values were 3.2 ± 0.9 mm and 5.0 ± 1.7 mm in euploid and aneuploid fetuses, respectively (P < 0.001). The presence of any of the sonographic markers that were significantly different between euploid and trisomy 21 fetuses at univariate analysis yielded a false-positive rate of 5.3% (48 of 898) with a sensitivity of 59.2% (13 of 22). FL was available in 21 and HL in seven Down syndrome fetuses. Mean ± SD observed versus expected values of FL and HL were not significantly different between euploid and aneuploid fetuses (Table 2). Gestational age was significantly different between fetuses with normal versus abnormal heart at ultrasonography (17.0 ± 1.7 weeks versus 19.3 ± 2.7 weeks, P < 0.001). Similarly, a correlation was present between gestational age and NFT (R = 0.39, P < 0.001). Logistic regression analysis demonstrated that after controlling for gestational age, cardiac anomalies (OR, 255; 95% CI, 25, 2592), other structural anomalies (OR, 25; 95% CI, 6, 97), and NFT of 6 mm or greater (OR, 13; 95% CI, 3, 50) were the only independent predictors of trisomy 21. When any of these markers was present, the sensitivity for the diagnosis of trisomy 21 was 54.5% (12 of 22), and the false-positive rate was only 3.1% (28 of 898). To test if a negative genetic ultrasonogram was independent of maternal age, we performed a twoway ANOVA for maternal age, karyotype results, and presence of any ultrasonographic markers of

3 J Ultrasound Med 18: , 1999 VERGANI ET AL 471 Table 1: Ultrasonographic Findings in Trisomy 21 Cases. Maternal Gestational Structural Cardiac NFT Case Age (yr) Age (wk) Anomalies Anomalies Pyelectasis (mm) None None No None None Yes None None No None AVSD No None None No None None No Ventriculomegaly None No None None No None None No None None No None AVSD No None None No None None No Duodenal atresia None Yes None None No Ventriculomegaly None No None None No None None No None AVSD Yes None Ebstein anomaly Yes Duodenal atresia AVSD No Hydrocephaly None No 5 AVSD, Complete atrioventricular septal defect. aneuploidy. Whereas maternal age was significantly different between euploid and aneuploid cases, as expected (P = 0.04), it was not different between cases with any versus none of the independent sonographic predictors of trisomy 21 (P = 0.22). DISCUSSION We found that half of the sonographic markers for trisomy 21 that we examined were not significantly different between euploid and trisomy 21 fetuses in our population. Moreover, at logistic regression analysis an additional marker (pyelectasis) was found not to be an independent predictor of trisomy 21. In other words, although pyelectasis is significantly more common among trisomy 21 than euploid fetuses, as it has been reported previously, 8 most cases of pyelectasis in trisomy 21 fetuses occur among those with other markers, such as increased NFT or structural or cardiac anomalies. As a corollary, detection of pyelectasis in a fetus should prompt a more thorough evaluation in search of the markers that are independent predictors of trisomy 21 rather than providing counseling directed at calculating the pyelectasis-associated risk of Down syndrome. During the last 15 years, the number of genetic sonographic markers proposed has increased progressively. As a consequence, the complexity of genetic sonograms has grown, and the type of markers used varies from center to center. The components of each genetic sonogram are often chosen by prioritizing the ones that are more easily obtained and more familiar to the operator. As our analysis shows, inclusion of markers that are not independent predictors leads to an increase of 41.5% in the false-positive rate, with little improvement in sensitivity. A genetic sonogram should include visualization of the independent predictors, which are, on the basis of our results, NFT and cardiac outflow tracts, in addition to conducting the usual search for structural abnormalities. At variance with results of other series, 9 11 fetal HL was not a predictor of trisomy 21 in our study, possibly owing to the small number of cases in which this parameter was included. Three studies in addition to ours utilized multivariate analysis to evaluate the independent predictors of trisomy 21 (Table 3) Two of them originated from the same center and had considerable overlap in the study periods. 10,11 NFT is the only marker that has consistently been found to have independent predictive ability in all series. It should

4 472 SONOGRAPHIC MARKERS FOR TRISOMY 21 J Ultrasound Med 18: , 1999 Table 2: Univariate Analysis of the Sonographic Markers for Trisomy 21* Sonographic Marker Euploid (n = 898) Trisomy 21 (n = 22) P Value Cardiac anomalies 3 (0.3%) 5 (22.7%) < Structural anomalies 11 (1.2%) 5 (22.7%) < Nuchal fold thickness 6 mm 16 (1.8%) 6 (27.3%) < Pyelectasis 18 (2.0%) 4 (18.2%) Isolated choroid plexus cysts 24 (2.6%) 1 (4.5%) 0.45 Bowel echogenicity 7 (0.8%) Humerus length 1.00 ± ± Femur length 1.00 ± ± *Values given as number (%) or mean ± SD. Observed versus expected values based on biparietal diameter. be noted that the value of a detailed cardiac examination cannot be assessed from this review because only one study specified that cardiac outflow tracts were evaluated in addition to the four-chamber view of the heart. 9 Cardiac malformations were excluded from the analysis in two of the studies, 10,11 whereas the third study included cardiac anomalies among other structural abnormalities. 9 Whether visualization of the outflow tracts adds predictive ability to that offered by the four-chamber view alone cannot be assessed from our study. In our investigation, 22.7% of trisomy 21 fetuses had cardiac anomalies in the four-chamber view of the heart and outflow tracts with the use of color flow mapping. This rate compares favorably with those reported by Benacerraf and coworkers (21%) 12 and by DeVore and Alfi (18%). 7 A potential limitation of cardiac anomalies as a marker of trisomy 21 is that an adequate view of the heart may not be possible until 18 weeks or later. In support of the reliability of cardiac evaluation at low gestational ages comes the observation of De Vore and colleagues, who, using color flow mapping, correctly identified cardiac anomalies in 10 of 12 Down syndrome fetuses at or below 18 weeks of gestational age. 7 If fetal cardiac anatomy cannot be adequately assessed before 18 weeks gestation, and the patient declines a follow-up examination, counseling should take into account all the other sonographic markers that are independent predictors of trisomy 21. Multivariate analysis permits a more accurate counseling in the presence of multiple sonographic markers. The cumulative odds for trisomy 21 can be calculated by multiplying the individual odds ratios of the markers with independent predictive ability. In conclusion, multivariate analysis of the sonographic markers of trisomy 21 allows identification of the optimal components of a genetic sonogram. This may lead over time to a standardization of the contents of such examinations among different centers and populations, a shorter duration of the examination with no loss of sensitivity, and a decrease in the false-positive rate, with its associated risks for euploid fetuses undergoing invasive genetic testing. Table 3: Comparison of Sonographic Markers Found to be Independent Predictors of Trisomy 21 Markers Vintzileos et al (1997) 9 Deren et al (1998) 10 Bahado-Singh et al (1998) 11 Present Series Nuchal fold thickening Significant Significant Significant Significant Humerus shortening Significant Significant Significant NS Femur shortening NS NS NS NS Pyelectasis Significant NS NS Hyperechoic bowel NS Significant Significant NS Choroid plexus cysts NS NS Hypoplastic middle phalanx NS Significant Significant Sandal gap* NS Two-vessel umbilical cord NS NS Tibia shortening NS Ulna shortening NS NS, Not significant at multivariate analysis. The empty cells refer to markers not considered in the studies. Structural malformations were controlled for. *Increased space between first and second toe.

5 J Ultrasound Med 18: , 1999 VERGANI ET AL 473 REFERENCES 1. Haddow JE, Palomaki GE, Knight GJ, et al: Reducing the need for amniocentesis in women 35 years of age or older with serum markers for screening. N Engl J Med 330:1114, Wenstrom KD, Desai R, Owen J, et al: Comparison of multiple-marker screening with amniocentesis for the detection of fetal aneuploidy in women > 35 years old. Am J Obstet Gynecol 173:1287, Vintzileos AM, Egan JFX: Adjusting the risk for trisomy 21 on the basis of second trimester ultrasonography. Am J Obstet Gynecol 172:837, Nadel AS, Bromley B, Frigoletto FD, et al: Can the presumed risk of autosomal trisomy be decreased in fetuses of older women following a normal sonogram? J Ultrasound Med 14:297, Bahado-Singh RO, Özgür D, Tan A, et al: Ultrasonographically adjusted midtrimester risk of trisomy 21 and significant chromosomal defects in advanced maternal age. Am J Obstet Gynecol 175:1563, Vintzileos AM, Campbell WA, Rodis JF, et al: The use of second-trimester genetic sonogram in guiding clinical management of patients at increased risk for fetal trisomy 21. Obstet Gynecol 87:948, DeVore GR, Alfi O: The use of color Doppler ultrasound to identify fetuses at increased risk for trisomy 21: An alternative for high risk patients who decline genetic amniocentesis. Obstet Gynecol 85:378, Benacerraf BR, Mandell J, Estroff JA, et al: Fetal pyelectasis: A possible association with Down syndrome. Obstet Gynecol 76:58, Vintzileos AM, Campbell WA, Guzman ER, et al: Secondtrimester ultrasound markers for detection of trisomy 21: Which markers are best? Obstet Gynecol 89:941, Deren O, Mahoney MJ, Copel JA, et al: Subtle ultrasonographic anomalies: Do they improve the Down syndrome detection rate? Am J Obstet Gynecol 178:441, Bahado-Singh R, Deren O, U Oz, et al: An alternative for women initially declining genetic amniocentesis: Individual Down syndrome odds on basis of maternal age and multiple ultrasonographic markers. Am J Obstet Gynecol 179:514, Benacerraf BR, Neuberg D, Bromley B, et al: Sonographic scoring index for prenatal detection of chromosomal abnormalities. J Ultrasound Med 11:449, 1992

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

2 nd trimester Ultrasound markers and Down s Syndrome. Patricia Boyd National Perinatal Epidemiology Unit, Oxford, UK

2 nd trimester Ultrasound markers and Down s Syndrome. Patricia Boyd National Perinatal Epidemiology Unit, Oxford, UK 2 nd trimester Ultrasound markers and Down s Syndrome Patricia Boyd National Perinatal Epidemiology Unit, Oxford, UK John Langdon Down 1828 1896 1 st to describe features of Down s syndrome Some examples

More information

Prenatal Testing Nuchal Translucency and Beyond What Does is Mean?

Prenatal Testing Nuchal Translucency and Beyond What Does is Mean? Prenatal Testing Nuchal Translucency and What Does is Mean? William J. Polzin, M.D. Co-Director, Fetal Care Center of Cincinnati Director, Division of Maternal-Fetal Medicine Good Samaritan Hospital Cincinnati,

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

Aneuploidy Screening Program for Saskatchewan. Information for Health Care Providers

Aneuploidy Screening Program for Saskatchewan. Information for Health Care Providers Aneuploidy Screening Program for Saskatchewan Information for Health Care Providers Acknowledgements Special recognition goes to the following physicians who helped develop this information booklet: Dr.

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

Sonographic Markers of Fetal Trisomies

Sonographic Markers of Fetal Trisomies Review Article Sonographic Markers of Fetal Trisomies Second Trimester David A. Nyberg, MD, Vivienne L. Souter, MD, MRCOG Objective. Second-trimester sonographic findings of fetal trisomy may include structural

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

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

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

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

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

Estimation of Fetal Weight: Mean Value from Multiple Formulas

Estimation of Fetal Weight: Mean Value from Multiple Formulas Estimation of Fetal Weight: Mean Value from Multiple Formulas Michael G. Pinette, MD, Yuqun Pan, MD, Sheila G. Pinette, RPA-C, Jacquelyn Blackstone, DO, John Garrett, Angelina Cartin Mean fetal weight

More information

Prenatal Screening for Trisomy 21: Recent Advances and Guidelines

Prenatal Screening for Trisomy 21: Recent Advances and Guidelines Prenatal Screening for Trisomy 21: Recent Advances and Guidelines Jacob Canick, PhD Alpert Medical School of Brown University Women & Infants Hospital Providence, RI, USA 2 nd IFCC-Ortho Clinical Diagnostics

More information

Knowledge and Perception of the Role of Targeted Ultrasound in Detecting Down Syndrome Among a High Risk Population

Knowledge and Perception of the Role of Targeted Ultrasound in Detecting Down Syndrome Among a High Risk Population Texas Medical Center Library DigitalCommons@The Texas Medical Center UT GSBS Dissertations and Theses (Open Access) Graduate School of Biomedical Sciences 5-2011 Knowledge and Perception of the Role of

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

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

Non-Invasive Prenatal Testing Information for medical practitioners

Non-Invasive Prenatal Testing Information for medical practitioners Non-Invasive Prenatal Testing Information for medical practitioners Harmony Prenatal Test evaluates the risk for trisomies 21, 18 and 13 in women of any age or risk category Since non-invasive prenatal

More information

Greenbrier Obstetrics and Gynecology, P.C.

Greenbrier Obstetrics and Gynecology, P.C. Carrier Screening in Pregnancy for Common Genetic Diseases Cystic Fibrosis, Spinal Muscular Atrophy, and Fragile X are a few common serious disorders that can occur even without a family history. These

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

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

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

Ultrasound Screening for Down Syndrome

Ultrasound Screening for Down Syndrome September 2003 Ultrasound Screening for Down Syndrome Joshua U. Klein Harvard Medical School Year III Patient EH 35 y/o G0P0 IVF treatment; now pregnant with di/di twins, GA by LMP = 13 weeks, 0 days Presents

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

BRIAR HILL MIDWIVES PRENATAL TESTING OPTIONS

BRIAR HILL MIDWIVES PRENATAL TESTING OPTIONS BRIAR HILL MIDWIVES PRENATAL TESTING OPTIONS Women face many choices in their pregnancy and want to make decisions that are best for themselves, their baby and their family. The decision to proceed with

More information

Trisomies 21, 18, and 13 are the most frequently

Trisomies 21, 18, and 13 are the most frequently No. 277, May 2012 Counselling Considerations for Prenatal Genetic Screening This committee opinion has been prepared by the Genetics Committee and approved by the Executive of the Society of Obstetricians

More information

Effect of Increased Body Mass Index on the Accuracy of Estimated Fetal Weight by Sonography in Twins

Effect of Increased Body Mass Index on the Accuracy of Estimated Fetal Weight by Sonography in Twins Article Effect of Increased Body Mass Index on the Accuracy of Estimated Fetal Weight by Sonography in Twins Manisha Gandhi, MD, Lauren Ferrara, MD, Victoria Belogolovkin, MD, Erin Moshier, MS, Andrei

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

New Genetic Testing in Pregnancy

New Genetic Testing in Pregnancy Oklahoma Academy of Family Physicians New Genetic Testing in Pregnancy J. Stephen Jones. MD Maternal Fetal Medicine Saint Francis Tulsa Oklahoma 16 June, 2016 1 Prenatal Testing for Fetal Aneuploidy Noninvasive

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

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

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

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 Management of Monochorionic-Diamniotic Twins

The Management of Monochorionic-Diamniotic Twins The Management of Monochorionic-Diamniotic Twins Part 2: Prenatal diagnosis and antenatal management Carla Ransom, MD Vanderbilt University November 30, 2012 none Disclosures PRENATAL DIAGNOSIS & ANEUPLOIDY

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

ABSTRACT Background Screening for trisomy 21 (Down s syndrome) by measuring maternal serum alphafetoprotein,

ABSTRACT Background Screening for trisomy 21 (Down s syndrome) by measuring maternal serum alphafetoprotein, INCREASED NUCHAL TRANSLUCENCY AS A MARKER FOR FETAL CHROMOSOMAL DEFECTS PEKKA TAIPALE, M.D., VILHO HIILESMAA, M.D., PH.D., RIITTA SALONEN, M.D., PH.D., AND PEKKA YLÖSTALO, M.D., PH.D. ABSTRACT Background

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

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

Universal Fetal Cardiac Ultrasound At the Heart of Newborn Well-being

Universal Fetal Cardiac Ultrasound At the Heart of Newborn Well-being Universal Fetal Cardiac Ultrasound At the Heart of Newborn Well-being Optimizes detection of congenital heart disease (chd) in the general low risk obstetrical population Daniel J. Cohen, M.D. danjcohen@optonline.net

More information

PRACTICE BULLETIN ACOG

PRACTICE BULLETIN ACOG ACOG PRACTICE BULLETIN CLINICAL MANAGEMENT GUIDELINES FOR OBSTETRICIAN GYNECOLOGISTS NUMBER 77, JANUARY 2007 Replaces Practice Bulletin Number 27, May 2001, and Committee Opinion Number 296, July 2004

More information

Small for gestational age

Small for gestational age Chapter 13 Small for gestational age SMALL FOR GESTATIONAL AGE Small for gestational age fetuses are defined by the finding that the abdominal circumference is below the 5th centile for gestation. About

More information

Screening for Down syndrome

Screening for Down syndrome J Obstet Gynecol India Vol. 56, No. 3 : May/June 2006 Pg 205-211 REVIEW ARTICLE The Journal of Obstetrics and Gynecology of India Screening for Down syndrome Asma Khalil, Pranav Pandya University College

More information

Nuchal Translucency in First-Trimester Ultrasound Screening for Trisomy 21

Nuchal Translucency in First-Trimester Ultrasound Screening for Trisomy 21 Nuchal Translucency in First-Trimester Ultrasound Screening for Trisomy 21 Jane Serene, MS3 Core Radiology Clerkship Beth Israel Deaconess Medical Center Nuchal translucency-based screening for fetal abnormalities

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

IN THIS ISSUE. Sponsored by Perinatal Quality Foundation

IN THIS ISSUE. Sponsored by Perinatal Quality Foundation Sponsored by Perinatal Quality Foundation The ExaminerFall 2014 The overall frequency of the common aneuploidies (Trisomy 21, 18, 13) screened for by NIPT is approximately two per thousand pregnancies

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

NUCHAL TRANSLUCENCY GENETIC SCREENING

NUCHAL TRANSLUCENCY GENETIC SCREENING NUCHAL TRANSLUCENCY GENETIC SCREENING Background 1. Definition: o Fetal nuchal edema, posterior area, synonymous with nuchal translucency or NT o Nuchal fold thickness best ultrasonographic predictor of

More information

A simple, safe blood test that offers highly sensitive results

A simple, safe blood test that offers highly sensitive results A simple, safe blood test that offers highly sensitive results A non-invasive test that assesses the risk for chromosome conditions such as Down syndrome and includes an optional analysis of fetal sex

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

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

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

Antenatal Ultrasound Screening

Antenatal Ultrasound Screening Antenatal Ultrasound Screening Ultrasound Survey of England : 2002 April 2005 Commissioned by the UK National Screening Committee 02 2002 Ultrasound Survey UK National Screening Committee UK National Screening

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

Corporate Medical Policy Noninvasive Prenatal Testing for Fetal Aneuploidies Using Cell- Free Fetal DNA

Corporate Medical Policy Noninvasive Prenatal Testing for Fetal Aneuploidies Using Cell- Free Fetal DNA Corporate Medical Policy Noninvasive Prenatal Testing for Fetal Aneuploidies Using Cell- File Name: Origination: Last CAP Review: Next CAP Review: Last Review: noninvasive_prenatal_testing_for_fetal_aneuploidies_using_cell-free_fetal_dna

More information

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

Subject Medical necessity criteria and authorization procedures for standard ultrasounds during pregnancy

Subject Medical necessity criteria and authorization procedures for standard ultrasounds during pregnancy PAGE: 1 of 12 IMPORTANT REMINDER This Clinical Policy has been developed by appropriately experienced and licensed health care professionals based on a thorough review and consideration of generally accepted

More information

Genetic Screening and Testing During Pregnancy

Genetic Screening and Testing During Pregnancy Genetic Screening and Testing During Pregnancy While most babies are born healthy and without birth defects, approximately 3-5% of all babies are born with a birth defect. Some of these babies will have

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

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

MEDICAL POLICY FIRST-TRIMESTER PRENATAL SCREENING FOR GENETIC DEFECTS MP POLICY TITLE POLICY NUMBER

MEDICAL POLICY FIRST-TRIMESTER PRENATAL SCREENING FOR GENETIC DEFECTS MP POLICY TITLE POLICY NUMBER Original Issue Date (Created): February 23, 2004 Most Recent Review Date (Revised): Effective Date: May 15, 2007 January 31, 2008- RETIRED I. DESCRIPTION/BACKGROUND Over the years many types of biologic

More information

A single center experience with 1000 consecutive cases of multifetal pregnancy reduction

A single center experience with 1000 consecutive cases of multifetal pregnancy reduction A single center experience with 1000 consecutive cases of multifetal pregnancy reduction Joanne Stone, MD, Keith Eddleman, MD, Lauren Lynch, MD, and Richard L. Berkowitz, MD New York, NY, and San Juan,

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

Prenatal Detection of Fetal Trisomy 18 Through Abnormal Sonographic Features

Prenatal Detection of Fetal Trisomy 18 Through Abnormal Sonographic Features Article Prenatal Detection of Fetal Trisomy 18 Through Abnormal Sonographic Features Lami Yeo, MD, Edwin R. Guzman, MD, Debra Day-Salvatore MD, PhD, Christine Walters, RDMS, Donna Chavez, MS, Anthony M.

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

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

Prenatal Diagnosis Program

Prenatal Diagnosis Program Prenatal Diagnosis Program Prenatal Screenings and Diagnosis What is prenatal diagnosis? Prenatal diagnosis refers to the use of one or more tests to determine if a developing baby has a problem before

More information

Distribution of nuchal translucency in antenatal screening for Down s syndrome. JPBestwick,WJHuttlyandNJWald... METHODS

Distribution of nuchal translucency in antenatal screening for Down s syndrome. JPBestwick,WJHuttlyandNJWald... METHODS 8 ORIGINAL ARTICLE Distribution of nuchal translucency in antenatal screening for JPBestwick,WJHuttlyandNJWald... J Med Screen 2010;17:8 12 DOI: 10.1258/jms.2010.009107 See end of article for authors affiliations...

More information

MEASUREMENT OF FETAL HEART DIMENSIONS AT DIFFERENT STAGES OF DEVELOPMENT IN INDIAN POPULATION OF MAHARASHTRA REGION

MEASUREMENT OF FETAL HEART DIMENSIONS AT DIFFERENT STAGES OF DEVELOPMENT IN INDIAN POPULATION OF MAHARASHTRA REGION 607 MEASUREMENT OF FETAL HEART DIMENSIONS AT DIFFERENT STAGES OF DEVELOPMENT IN INDIAN POPULATION OF MAHARASHTRA REGION MRS.HARITHA KUMARI.N *, DR.ARUNA MUKHERJEE, DR.B.K.MATHUR 1 Lecturer in Anatomy,

More information

Editorial. Genetic sonography: the historical and clinical role of fetal echocardiography G. R. DEVORE INTRODUCTION

Editorial. Genetic sonography: the historical and clinical role of fetal echocardiography G. R. DEVORE INTRODUCTION Ultrasound Obstet Gynecol 2010; 35: 509 521 Published online in Wiley InterScience (www.interscience.wiley.com). DOI: 10.1002/uog.7652 Editorial Genetic sonography: the historical and clinical role of

More information

Second-trimester maternal serum alpha-fetoprotein elevation and its association with adverse maternal/fetal outcome: ten years experience

Second-trimester maternal serum alpha-fetoprotein elevation and its association with adverse maternal/fetal outcome: ten years experience ACTA BIOMED 2007; 78: 214-219 Mattioli 1885 O R I G I N A L A R T I C L E Second-trimester maternal serum alpha-fetoprotein elevation and its association with adverse maternal/fetal outcome: ten years

More information

Prenatal screening for Down syndrome in England and Wales and population-based birth outcomes

Prenatal screening for Down syndrome in England and Wales and population-based birth outcomes Prenatal screening for Down syndrome in England and Wales and population-based birth outcomes Rebecca Smith-Bindman, MD, a,b Philip Chu, MS, a Peter Bacchetti, PhD, b Jonathan J. Waters, PhD, MRC Path,

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

Prenatal screening and testing

Prenatal screening and testing Prenatal screening and testing Pregnancy is often a joyful time and most births result in healthy babies; however, 3 to 5 percent of all babies born have a birth defect or genetic condition. Many of these

More information

Article. Anthony O. Odibo, MD, Christopher Riddick, Emmanuelle Pare, MD, David M. Stamilio, MD, MSCE, George A. Macones, MD, MSCE

Article. Anthony O. Odibo, MD, Christopher Riddick, Emmanuelle Pare, MD, David M. Stamilio, MD, MSCE, George A. Macones, MD, MSCE Article Cerebroplacental Doppler Ratio and Adverse Perinatal Outcomes in Intrauterine Growth Restriction Evaluating the Impact of Using Gestational Age Specific Reference Values Anthony O. Odibo, MD, Christopher

More information

FIRST-TRIMESTER DOWN S SYNDROME SCREENING

FIRST-TRIMESTER DOWN S SYNDROME SCREENING FIRST-TRIMESTER DOWN S SYNDROME SCREENING BY FETAL NUCHAL TRANSLUCENCY MEASUREMENT IN TAIWAN Hei-Jen Jou, 1,2 Jin-Chung Shih, 2 Shiao-Chi Wu, 3 Te-Cheng Li, 1 Chau-Yang Tzeng, 1 and Fon-Jou Hsieh 2 Background:

More information

Chapter 2 Selected Genetics Topics

Chapter 2 Selected Genetics Topics Chapter 2 Selected Genetics Topics Robertsonian Translocation and Other Travel Options for Your Genes: How Your Genes Can do a Little Sightseeing on the Genome Some chromosome problems have to do with

More information

Prenatal Testing and Genetic Counseling

Prenatal Testing and Genetic Counseling (503) 652-8076 www.vivantemidwifery.com Prenatal Testing and Genetic Counseling Every parent hopes to have a healthy child. The good news is that most babies are born healthy. However, there are occasions

More information

First-trimester ultrasound (nuchal translucency measurement)

First-trimester ultrasound (nuchal translucency measurement) Patient Information First-trimester ultrasound (nuchal translucency measurement) Dear expectant mother, You have attended our practice today to undergo measurement of the nuchal translucency of your unborn

More information

FACTORS INFLUENCING DECISION-MAKING IN PRENATAL SCREENING FOR DOWN SYNDROME. Anna Bauer

FACTORS INFLUENCING DECISION-MAKING IN PRENATAL SCREENING FOR DOWN SYNDROME. Anna Bauer FACTORS INFLUENCING DECISION-MAKING IN PRENATAL SCREENING FOR DOWN SYNDROME by Anna Bauer A paper presented to the faculty of The University of North Carolina at Chapel Hill in partial fulfillment of the

More information

The Who? What? When? And How? Of it. Director FATC. Coordinator Prenatal Screening and Diagnosis

The Who? What? When? And How? Of it. Director FATC. Coordinator Prenatal Screening and Diagnosis Prenatal Screening and Diagnosis The Who? What? When? And How? Of it Lynne McLeod Head, Maternal Fetal Medicine IWK Director FATC Claire Blight Coordinator Prenatal Screening and Diagnosis Welcome Thank

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 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

Reference Ranges for the Fetal Cardiac Circumference Derived by Cardio Spatiotemporal Image Correlation From 14 to 40 Weeks Gestation

Reference Ranges for the Fetal Cardiac Circumference Derived by Cardio Spatiotemporal Image Correlation From 14 to 40 Weeks Gestation ORIGINAL RESEARCH Reference Ranges for the Fetal Cardiac Circumference Derived by Cardio Spatiotemporal Image Correlation From 14 to 40 Weeks Gestation Kuntharee Traisrisilp, MD, Fuanglada Tongprasert,

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

Testing for Chromosome Abnormalities

Testing for Chromosome Abnormalities Testing for Chromosome Abnormalities Congratulations on your pregnancy! While most babies are born healthy, approximately 3-5% will be affected with certain birth defects or genetic conditions. In all

More information

THE NEW GENETICS: PARADIGM SHIFTS IN PRENATAL DIAGNOSIS

THE NEW GENETICS: PARADIGM SHIFTS IN PRENATAL DIAGNOSIS THE NEW GENETICS: PARADIGM SHIFTS IN PRENATAL DIAGNOSIS Jennifer Hoskovec, MS, CGC Assistant Professor Director, Prenatal Genetic Counseling Services Department of Ob/Gyn and Reproductive Sciences UT Health

More information

An OB US protocol book is available in the reading room to help you learn what is needed for problem cases.

An OB US protocol book is available in the reading room to help you learn what is needed for problem cases. HIGH RISK OBSTETRIC ULTRASOUND GUIDELINES Dolores H. Pretorius, M.D., Mary K. O Boyle M.D. and Lori Romine M.D. The obstetric ultrasound rotation is designed to emphasize an experience that relies on a

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

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 test your patients can trust. A company you know and trust.

A test your patients can trust. A company you know and trust. A test your patients can trust. A company you know and trust. informaseq Prenatal Test an advanced, non-invasive, prenatal screening for T21, T18, and T13 chromosomal aneuploidies using next generation

More information

CAGC Certification Logbook of Clinical Experience INSTRUCTIONS

CAGC Certification Logbook of Clinical Experience INSTRUCTIONS CAGC Certification Logbook of Clinical Experience INSTRUCTIONS The purpose of the logbook is to show that the applicant has been significantly involved in the evaluation and counselling of patients seeking

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

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

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

Obstetrical Ultrasound and Prenatal Diagnostic Center

Obstetrical Ultrasound and Prenatal Diagnostic Center Obstetrical Ultrasound and Prenatal Diagnostic Center Prenatal Diagnosis: Options and Opportunities Learn about various screening options including Early Risk Assessment (ERA), now available to women of

More information

FOR WOMEN AND THEIR FAMILIES

FOR WOMEN AND THEIR FAMILIES FOR WOMEN AND THEIR FAMILIES A guide to understanding prenatal screening tests for: Down Syndrome Trisomy 18 Open Neural Tube Defects New prenatal screening tests are now available for all women. Early

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

9/18/2014. How has the presentation of NIPS changed in recent years? How do we make sense of the different statistical terms?

9/18/2014. How has the presentation of NIPS changed in recent years? How do we make sense of the different statistical terms? It is a common misconception among patients that NIPT is diagnostic in value. These beliefs are often based on the misconceptions formed by seeing advertised testing sensitivity and specificity reported

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

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