The effect of extended pre-analytical time on reported chance as part of the foetal anomaly screening programme.

Chromosomal abnormalities are major causes of perinatal death and childhood handicap. Consequently, the detection of chromosomal disorders constitutes the most frequent indication for invasive prenatal diagnosis. However, invasive testing, by amniocentesis, chorionic villus sampling (CVS) or cordocentesis, is associated with a risk of miscarriage of about 1% and therefore these tests are carried out only in pregnancies considered to be at high-risk for chromosomal defects. The methods of screening to identify the high-risk group are maternal age, ultrasound findings at 11–14 weeks and/or in the second trimester and maternal serum biochemical testing at 11–14 weeks and/or in the second trimester.

BackgroundCongenital heart disease (CHD) is the most common form of congenital anomalyand is a leading cause of neonatal morbidity and mortality. Major congenital heart disease (CHD) is defined as any...

Role of second‐trimester ultrasound in screening for Down syndrome

Miscarriage is a major concern in early pregnancy among women having conceived with assisted reproductive treatments. This study aimed to examine potential miscarriage-related biophysical and biochemical markers at 6 weeks' gestation among women with confirmed clinical pregnancy following in vitro fertilization (IVF)/embryo transfer (ET) and evaluate the performance of a model combining maternal factors, biophysical and biochemical markers at 6 weeks' gestation in the prediction of first trimester miscarriage among singleton pregnancies following IVF/ET. A prospective cohort study was conducted in a teaching hospital between December 2017 and January 2020 including women who conceived through IVF/ET. Maternal mean arterial pressure, ultrasound markers including mean gestational sac diameter, fetal heart activity, crown rump length and mean uterine artery pulsatility index (mUTPI) and biochemical biomarkers including maternal serum soluble fms-like tyrosine kinase-1 (sFlt-1), placental growth factor (PlGF), kisspeptin and glycodelin-A were measured at 6 weeks' gestation. Logistic regression analysis was carried out to determine significant predictors of miscarriage prior to 13 weeks' gestation and performance of screening was estimated by receiver-operating characteristics curve analysis. Among 169 included pregnancies, 145 (85.8%) pregnancies progressed to beyond 13 weeks' gestation and had live births whereas 24 (14.2%) pregnancies resulted in a miscarriage during the first trimester. In the miscarriage group, compared to the live birth group, maternal age, body mass index, and mean arterial pressure were significantly increased; mean gestational sac diameter, crown rump length, mUTPI, serum sFlt-1, glycodelin-A, and the rate of positive fetal heart activity were significantly decreased, while no significant differences were detected in PlGF and kisspeptin. Significant prediction for miscarriage before 13 weeks' gestation was provided by maternal age, fetal heart activity, mUTPI, and serum glycodelin-A. The combination of maternal age, ultrasound (fetal heart activity and mUTPI), and biochemical (glycodelin-A) markers achieved the highest area under the curve (AUC: 0.918, 95% CI 0.866-0.955), with estimated detection rates of 54.2% and 70.8% for miscarriage before 13 weeks' gestation, at fixed false positive rates of 5% and 10%, respectively. A combination of maternal age, fetal heart activity, mUTPI, and serum glycodelin-A at 6 weeks' gestation could effectively identify IVF/ET pregnancies at risk of first trimester miscarriage.

To evaluate the performance of first trimester screening program for fetal anomalies by combination of maternal serum markers, maternal age and nuchal translucency. Retrospective analysis of 964 first trimester screening tests performed in the Institute for the Care of Mother and Child in the period from 1999 to 2003. The risk of T21 was calculated by combination of maternal age, weight, maternal serum markers (free-b-HCG and PAPP-A) and nuchal translucency at 11 + 6 − 14 + 0. Screening-positive women was offered genetic consultation. The follow up of the outcome of all pregnancies was carried out. Data were reviewed from a computer based system at Institute, some women were called by telephone to ask after their pregnancy outcome. 964 women were included between 1999–2003. Karyotyping was performed at 307 (31.8%) women from this group, 13 women declined invasive procedure. Indications to karyotyping were: 1st and 2nd trimester positive screening test, maternal age, increased nuchal translucency, ultrasound findings in the second trimester, risk anamnesis and others (like psychological reasons, infertility etc.). First trimester screening test was positive at 43 (4.46%) cases. There were found 5 pregnancies affected by T21 by invasive procedures, 4 of them were first trimester screening-positive (80%). In addition this screening identified 1 case of T18, 1 case of T13, 2 other pathological karyotypes and 2 congenital fetal defects causing termination of pregnancy. One case of T21, that wasn't identified by first trimester screening test, was screening-positive in the second trimester and karyotyping was performed. No chromosomally affected child was born in the screened population. In the group of 964 women screened in the Institute for the Care of Mother and Child the prospective detection rate of the first trimester screening test was 80% with 3.96% false positive rate. Supported by CEZ MZOL 340000001.

In the Netherlands, since 1 July 2011, both antenatal anti‐D immunoprophylaxis (1000 IU in the 30th week of gestation) and postnatal prophylaxis (1000 IU) is administered to only those women for whom a fetal RHD typing, performed in week 27 of pregnancy, predicts the presence of a D‐positive child. The fetal RHD screening is part of the antenatal Screening Programme for Infectious diseases and Erythrocyte immunisation (PSIE), offered to all pregnant women early in pregnancy at their first antenatal visit, preferably before 12 weeks of gestation.Currently, the compliance to the fetal RHD screening programme and the performance of the fetal RHD typing test is evaluated in a nation‐wide study. At the start of the programme, it was determined that the number of false negative test results should be below 0·25%.In the first seven months after introduction of the fetal RHD screening programme, the number of false‐negative results was below the critical threshold and the number of false positives around 1·1%. The compliance to the programme was in this period >95%.Our first analysis confirms that, in a centralised setting, it is possible to guide both antenatal and postnatal anti‐D immunoprophylaxis by fetal RHD screening in maternal blood obtained at 27 week of gestation. The current analysis, however, is based on the cord blood samples received by Sanquin only. A longer period of nation‐wide evaluation of the fetal RHD screening programme, including all (also locally typed) cord blood serology results obtained in a one‐year time period, will provide insight in the robustness of the fetal RHD screening programme.

British Journal of MidwiferyVol. 19, No. 12 CommentScreening choices in pregnancy: Guidance in offering testsAlissa DelbarreAlissa DelbarreSearch for more papers by this authorAlissa DelbarrePublished Online:16 Aug 2013https://doi.org/10.12968/bjom.2011.19.12.821AboutSectionsView articleView Full TextPDF/EPUB ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareShare onFacebookTwitterLinked InEmail View article References Kirwan D, NHS Fetal Anomaly Screening Programme (2010) 18+0 to 20+6 Weeks Fetal Anomaly Scan - National Standards and Guidance for England 2010. NHS FASP, Exeter Google ScholarNHS Fetal Anomaly Screening Programme (2011a) Consent Standards and Guidance. Screening Choices in Pregnancy. Guidance Around the Offer of Screening Tests for Down's syndrome and Fetal Anomaly. NHS FASP, Exeter Google ScholarNHS Fetal Anomaly Screening Programme (2011b) Pathway: Screening choices in pregnancy-Guidance around the offer of screening tests for Down's syndrome and Fetal Anomaly. NHS FASP, Exeter Google ScholarNHS Fetal Anomaly Screening Programme (2011c) Pathway: NHS FASP information available for health professionals. NHS FASP, Exeter Google ScholarNHS Fetal Anomaly Screening Programme (2011d) Pathway: NHS FASP information available to parents. NHS FASP, Exeter Google ScholarNHS Fetal Anomaly Screening Programme (2011e) Consent for Fetal Anomaly screening, supporting guidance for health professionals. NHS FASP, Exeter Google ScholarNHS FASP (2011f) NHS FASP Annual report 2010-2011. NHS FASP, Exeter Google Scholar FiguresReferencesRelatedDetails 1 December 2011Volume 19Issue 12ISSN (print): 0969-4900ISSN (online): 2052-4307 Metrics History Published online 16 August 2013 Published in print 1 December 2011 Information© MA Healthcare LimitedPDF download

To examine the distribution of fetal nuchal translucency thickness in normal and chromosomally abnormal fetuses in Sardinia and to determine the effectiveness of screening by a combination of fetal nuchal translucency and maternal age. Fetal nuchal translucency thickness and crown-rump length were measured at 10-14 weeks of gestation in 12 495 pregnancies. A reference range of fetal nuchal translucency thickness for crown-rump length was determined from the 10 001 singleton pregnancies with known normal pregnancy outcome. The median nuchal translucency thickness for crown-rump length was determined by regression analysis of the calculated median values of nuchal translucency thickness for each 0.1 mm interval in crown-rump length. The proportions of unaffected fetuses and those with trisomy 21 or other chromosomal defects with nuchal translucency thickness > 1.5 and 2.0 multiples of the regressed normal median for crown-rump length were calculated. The distribution of estimated risks based on maternal age and fetal nuchal translucency thickness according to The Fetal Medicine Foundation software were also determined and the sensitivity and false-positive rates were calculated. In the 10 001 normal pregnancies, the median fetal nuchal translucency thickness increased with crown-rump length (median nuchal translucency thickness = 0.3496 + 0.018 x crown-rump length) (r2 = 0.4411). In the singleton pregnancies, there were 64 fetuses with trisomy 21 and 46 with other chromosomal defects. The fetal nuchal translucency thickness was > 1.5 multiples of the median in 510 (5%) of the normal fetuses, in 52 (81%) of the trisomy 21 fetuses and in 33 (72%) of those with other chromosomal defects. The respective values for nuchal translucency thickness > 2.0 multiples of the median were 195 (2%), 41 (64%) and 32 (70%). In 184 multiple pregnancies, there were four fetuses with chromosomal abnormalities and in three of these the nuchal translucency thickness was > 1.5 multiples of the median. Screening by a combination of maternal age and fetal nuchal translucency thickness with a risk cut-off of 1 in 300 identified 90% of trisomy 21 pregnancies and 85% of all other chromosomal defects for a false-positive rate of 9%. Screening for chromosomal defects by measurement of nuchal translucency thickness identifies 80% of fetuses with trisomy 21 for a false-positive rate of 5%. In our population with a median maternal age of 33 years, screening by a combination of maternal age and fetal nuchal translucency thickness with a risk cut-off of 1 in 300 identified 90% of trisomy 21 pregnancies for a false-positive rate of 9%.

The NHS Fetal Anomaly Screening Programme (FASP) is a national screening guideline for the United Kingdom to detect fetal anomalies (1). In 2010 the national guidance was updated to include...

Prenatal screening and diagnosis—An introduction

Dépistage biologique et echographique de la trisomie 21: Progrès ou piège médical ?

Fetal anomaly screening programme

An experiment was conducted in which subjects could earn either a high (14/15) or a low (1/15) chance of winning a McDonald's Big Mac hamburger by successfully performing a difficult or very difficult memorization task. During the morning hours prior to the experimental session, half the subjects did not eat (high need) whereas the rest did (low need). As predicted, anticipatory ratings of the attractiveness of the hamburger increased across task difficulty for subjects in high need given the high chance and decreased across task difficulty for subjects in low need given the high chance. Furthermore, ratings were low and unaffected by task difficulty for the low-need subjects given the low chance. An unexpected increase in attractiveness ratings among subjects in high need given the low chance provided the impetus for a second experiment. In this study, subjects, all of whom were in high need, were given either an extremely high (79/80) or an extremely low 0/80) chance of winning the hamburger given success on the difficult or very difficult task. With this stronger manipulation, the attractiveness ratings of the hamburger increased as a function of task difficulty for subjects given the high' chance and, unlike the first experiment, decreased modestly as a function of task difficulty for subjects given the low chance. Results of the two experiments are discussed in terms of the energization theory of motivation.

To bring conformity at a national level, the UK National Screening Committee integrated different screening programmes into three main domains, each reflecting the stages of the health screening lifecycle. These domains are the fetal, maternal and child health group, the adult screening and cancer screening programmes. High-quality guidance, specifically policy and programme standards, is a necessity for trusts offering a screening service and, for easy access. There is much commonality between the Down syndrome screening and fetal anomaly screening programme standards, in that good screening programmes need a central coordinating group. In understanding the complexities of the woman's journey through the Down syndrome and ultrasound screening system, a number of care pathways have been produced. Since 2001, a succession of national audits has been undertaken that have proved fruitful in terms of improving services. The past 30 years have seen astonishing advances in antenatal screening.

Absence of nasal bone in fetuses with trisomy 21 at 11–14 weeks of gestation: an observational study