Trimester Aneuploidy Screening Research Articles

Prevalence and detection rate of major congenital heart disease in twin pregnancies in Denmark.

To investigate the national prevalence and prenatal detection rate (DR) of major congenital heart disease (mCHD) in twin pregnancies without twin-to-twin transfusion syndrome (TTTS)-associated CHD in a Danish population following a standardized prenatal screening program. This was a national registry-based study of data collected prospectively over a 10-year period. In Denmark, all women with a twin pregnancy are offered standardized screening and surveillance programs in addition to first- and second-trimester screening for aneuploidies and malformation, respectively: monochorionic (MC) twins every 2 weeks from gestational week 15 and dichorionic (DC) twins every 4 weeks from week 18. The data were retrieved from the Danish Fetal Medicine Database and included all twin pregnancies from 2009-2018, in which at least one fetus had a pre- and/or postnatal mCHD diagnosis. mCHD was defined as CHD requiring surgery within the first year of life, excluding ventricular septal defects. All pregnancy data were pre- and postnatally validated in the local patient files at the four tertiary centers covering the entire country. A total of 60 cases from 59 twin pregnancies were included. The prevalence of mCHD was 4.6 (95% CI, 3.5-6.0) per 1000 twin pregnancies (1.9 (95% CI, 1.3-2.5) per 1000 live births). The prevalences for DC and MC were 3.6 (95%CI, 2.6-5.0) and 9.2 (95%CI, 5.8-13.7) per 1000 twin pregnancies, respectively. The national prenatal DR of mCHD in twin pregnancies for the entire period was 68.3%. The highest DRs were in cases with univentricular hearts (100%) and the lowest with aortopulmonary window, total anomalous pulmonary venous return, Ebstein's anomaly, aortic valve stenosis and coarctation of the aorta (0-25%). Mothers of children with prenatally undetected mCHD had a significantly higher body mass index (BMI) compared to mothers of children with a prenatally detected mCHD (median, 27 kg/m2 and 23 kg/m2 , respectively; P = 0.02). The prevalence of mCHD in twins was 4.6 per 1000 pregnancies and was higher in MC than DC pregnancies. The prenatal DR of mCHD in twin pregnancies was 68.3%. Maternal BMI was higher in cases of prenatally undetected mCHD. © 2023 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

EP13.24: Maternal and fetal findings and Doppler indices in false high‐risk first trimester aneuploidy screening

EP13.24: Maternal and fetal findings and Doppler indices in false high‐risk first trimester aneuploidy screening

Risk of adverse pregnancy outcome in isolated single umbilical artery diagnosed at the mid-trimester anomaly scan: a large Danish retrospective cohort study

Objective To examine the association of isolated single umbilical artery (iSUA) confirmed at the mid-trimester anomaly scan and adverse pregnancy outcome and congenital malformations with up to 10 years postnatal follow up. Methods This retrospective cohort study included 116,501 singleton pregnancies consecutively enrolled in first trimester screening for aneuploidies and mid-trimester anomaly scan at three University Hospitals in the Capital Region of Copenhagen, Denmark. Data from the Danish Fetal Medicine Database (2008–2017) were verified by manually scrutinizing pre- and postnatal records. The main outcomes of interest were intrauterine fetal demise (IUFD), small for gestational age (SGA), preterm delivery, cesarean section and unrecognized pre- and postnatal congenital malformations. Results In total, 775 pregnancies with iSUA were identified. Isolated SUA were associated with a significantly increased risk of IUFD (OR 4.16, 95% CI 2.06–8.44), SGA < 3rd centile (aOR 2.41, 95% 1.85–3.14) and SGA < 10th centile (aOR 1.84, 95% CI 1.53–2.21), but not with preterm delivery or cesarean section. The laterality of the missing artery was not associated with SGA. In total, 4.3% of pregnancies with iSUA had unrecognized congenital malformations. 1.5% with iSUA had congenital cardiovascular malformations, which were considered minor. Conclusion Isolated SUA is associated with IUFD and SGA, supporting surveillance during third trimester. If, during the mid-trimester scan, the sonographer achieves thorough, extended cardiac views and finds no additional malformation other than SUA, fetal echocardiography seems not to be needed.

Reasons for declining prenatal diagnostic tests and analysis of factors impacting the decision

Abstract&#x0D; Objective: To identify the factors impacting the decision of declining to have prenatal diagnostic tests and to determine the reasons for declining in cases with high trisomy risk in prenatal screening tests and those who refuse to undergo prenatal diagnostic tests.&#x0D; Materials and methods: Cases with positive test results in first and second trimester aneuploidy screening tests were included in the study. The patients were divided into two groups those who accepted prenatal diagnostic tests (Group 1) and those who refused prenatal diagnostic tests (Group 2). The patients that refused prenatal diagnostic tests were evaluated with a questionnaire to determine the reasons for refusal.&#x0D; Results: 204 cases were included in the study. 44 (21.6%) of these cases wanted to have prenatal diagnostic tests, while 160 (78.4%) refused to have prenatal diagnosis tests. A significant correlation was found between the decision to refuse the prenatal diagnostic test and the mother's educational status level (p=0.035), whereas no significant correlation was found between the personalized risk ratios and the number of abortions in previous pregnancies. Among the reasons for refusal of prenatal diagnosis test, the main reason was determined to be "Termination of pregnancy is not an option".&#x0D; Conclusion: Pregnant women should be offered all options, including not having a prenatal screening test or a prenatal diagnostic test, by providing accurate and understandable information about the purpose and potential outcomes of prenatal screening tests. Hence, pregnant women can be provided with the opportunity to make an informed choice.

Perinatal morbidity in gestations with pathological combined first trimester screening for aneuploidies and normal karyotype

Perinatal morbidity in gestations with pathological combined first trimester screening for aneuploidies and normal karyotype

Low first trimester maternal serum PAPP-A concentrations in women with non-cavity-distorting intramural uterine fibroids.

Reliable aneuploidy risk estimation in first trimester is prominently interconnected with accurate assessment of maternal serum biomarkers. Some maternal factors like insulin-dependent diabetes, weight, and rhesus status are known to alter levels of these biomarkers. Adjustment of biomarker values for specific factor is crucial to avoid excessive invasive procedures or missed diagnoses. We aimed to investigate the effects of noncavity distorting intramural uterine fibroids on first trimester aneuploidy screening test maternal serum biomarkers. Pregnant women who underwent first trimester aneuploidy screening test in a single tertiary center between 2011 and 2020 were retrospectively assessed. One hundred ninety-eight women were found to have at least one noncavity distorting intramural uterine leiomyoma (Figo type 3-6) of at least 2cm diameter and remaining women were assigned as controls. First trimester aneuploidy screening test parameters were compared. Pregnancy associated plasma protein-A (PAPP-A) MoMs were found significantly lower in leiomyoma group in comparison to control group (1.19 ± 0.60 MoM vs. 1.40 ± 0.73 MoM, p=0.002). PAPP-A MoMs in women with leiomyomas larger than 5.5cm were significantly lower in comparison to both control group and women with ≤5.5cm leiomyomas (0.82 ± 0.376 vs. 1.40 ± 0.73, p < 0.001; 0.82 ± 0.376 vs. 1.33 ± 0.61 p < 0.001, respectively). PAPP-A MoM and size of leiomyoma were found inversely correlated when fibroid size exceeds 5.5cm (r=-0.467, p < 0.001). Noncavity distorting intramural uterine leiomyomas >5.5cm are associated with low first trimester PAPP-A MoMs (<0.5). PAPP-A concentrations are inversely correlated with fibroid size in women with >5.5cm intramural uterine leiomyomas. Fibroids ≤5.5cm are not associated with alterations in first trimester aneuploidy screening test parameters.

Reassurance from second trimester sonographic placental scan for pregnancies complicated by abnormal first trimester biomarkers

Objective Enhanced first trimester aneuploidy screening (eFTS) combines serum biomarkers and ultrasound. Abnormal biomarkers are associated with placental complications, such as fetal growth restriction (FGR). We aimed to evaluate whether a Midtrimester placental scan can provide reassurance regarding FGR in women with abnormal eFTS biomarkers. Methods We conducted a retrospective cohort study of women who had eFTS and delivered at a single referral center. Women with abnormal biomarkers had a mid-trimester scan of the placenta (morphologic assessment, fetal biometry and uterine artery pulsatility index). We compared pregnancies with abnormal eFTS biomarkers and normal placental scans (study group) with those who had normal eFTS biomarkers (control group). Results A total of 6,514 women were included, of whom 343 (5.3%) comprised the study group. Women in the study group had an increased risk of hypertensive disorders of pregnancy [(aOR)1.96(95%CI 1.21–3.16)], and preterm birth <37 weeks [aOR1.98(95%CI 1.33–2.95)] compared to the control group. Yet, their neonates were not at higher risk for FGR <3rd, 5th, or 10th percentile [aOR1.16(95%CI 0.83–1.63), 1.14(95%CI 0.70–1.87), and 0.47(95%CI 0.17–1.27), respectively]. Conclusion A normal second trimester placental scan provided reassurance regarding the risk of FGR in women at high risk based on abnormal eFTS biomarkers.

A first trimester prediction model for large for gestational age infants: a preliminary study

BackgroundLarge for gestational age infants (LGA) have increased risk of adverse short-term perinatal outcomes. This study aims to develop a multivariable prediction model for the risk of giving birth to a LGA baby, by using biochemical, biophysical, anamnestic, and clinical maternal characteristics available at first trimester.MethodsProspective study that included all singleton pregnancies attending the first trimester aneuploidy screening at the Obstetric Unit of the University Hospital of Modena, in Northern Italy, between June 2018 and December 2019.ResultsA total of 503 consecutive women were included in the analysis. The final prediction model for LGA, included multiparity (OR = 2.8, 95% CI: 1.6–4.9, p = 0.001), pre-pregnancy BMI (OR = 1.08, 95% CI: 1.03–1.14, p = 0.002) and PAPP-A MoM (OR = 1.43, 95% CI: 1.08–1.90, p = 0.013). The area under the ROC curve was 70.5%, indicating a satisfactory predictive accuracy. The best predictive cut-off for this score was equal to − 1.378, which corresponds to a 20.1% probability of having a LGA infant. By using such a cut-off, the risk of LGA can be predicted in our sample with sensitivity of 55.2% and specificity of 79.0%.ConclusionAt first trimester, a model including multiparity, pre-pregnancy BMI and PAPP-A satisfactorily predicted the risk of giving birth to a LGA infant. This promising tool, once applied early in pregnancy, would identify women deserving targeted interventions.Trial registrationClinicalTrials.gov NCT04838431, 09/04/2021.

Association between low first trimester maternal serum PAPP-A levels and presence of unilateral or bilateral uterine artery diastolic notches

Objective Uterine artery impedance is known to have an effect on first trimester aneuploidy screening biomarkers. In this study we aim to compare first trimester screening parameters in women with and without uterine artery diastolic notches. Methods This retrospective case control study was conducted in a single tertiary center by obtaining medical records of women that admitted for first trimester pregnancy follow-up. Singleton pregnancies without structural anomalies, chromosomal anomalies and obstetric complications were included in the study. 268 women with first trimester unilateral uterine artery diastolic notches are constituted study group 1, 149 women with bilateral uterine artery diastolic notches constituted study group 2. 200 women were randomly selected as control group. Results Significantly decreased PAPP-A levels were found in both study groups. PAPP-A levels were even lower in women with bilateral notches in comparison to unilateral notches. Fetal birth weights and gestational ages at birth were also found significantly lower in study groups. Beta human chorionic gonadotropin levels and nuchal translucency measurements were found similar. Prevalence of false positive first trimester aneuploidy screening test results were significantly higher in women with bilateral uterine artery diastolic notches. Conclusion Presence of first trimester uterine artery diastolic notches, particularly the presence of bilateral diastolic notches, is related with decreased PAPP-A levels in first trimester aneuploidy screening and lead to higher false positive rates in first trimester aneuploidy screening and consequently more unnecessary invasive procedures.

Perinatal outcomes in women affected by different types of headache disorders: A prospective cohort study.

This study aims to investigate pregnancy and perinatal outcomes in women with tension-type headache, migraine without aura and migraine with aura by comparing them to women without any headache disorders. Prospective cohort study including singleton pregnancies attending the first trimester aneuploidy screening at the University Hospital of Modena, in Northern Italy, between June 2018 and December 2019. A total of 515 consecutive women were included and headache disorders were reported in 43.5% of them (224/515). Tension-type headache was diagnosed in 24.3% of the cases, while 14% suffered from migraine without aura and 5.2% from migraine with aura. Birthweight was significantly lower in women affected by migraine with aura respective to other groups, and a significantly higher rate of small for gestational age infants was found in tension-type headache (10.4%) and in migraine with aura (24.9%) groups respective to the others (p < 0.001). Moreover, the admission to the neonatal intensive care unit was significantly higher in all the headache groups (p = 0.012). Multivariate analysis showed that women presenting tension-type headache (OR 4.19, p = 0.004), migraine with aura (OR 5.37, p = 0.02), a uterine artery pulsatility index >90th centile (OR 3.66, p = 0.01), low multiple of the median (MoM) of Pregnancy-associated plasma protein-A (PAPP-A) (OR 0.48, p = 0.05) and high MoM of Inhibin-A (OR 3.24, p = 0.03) at first trimester, are independently associated with the delivery of small for gestational age infants when compared to women without headache disorders. Migraine with aura and tension type headache expose women to an increased risk of delivering small for gestational age infants, in association with some utero-placenta markers evaluated at first trimester. These women with headache disorders have an additional indication to undergo first trimester aneuploidy screening and would possibly benefit from specific interventions.

First trimester screening for aneuploidy: may combined test and fetal DNA work together?

Introduction The purpose of the study was to evaluate the screening performance of combined test (based on the measurement of nuchal translucency, pregnancy-associated plasma protein A, free β-human chorionic gonadotropin, and maternal age) and fetal DNA screening (NIPS) for trisomies 21 (T21), 18 (T18), and 13 (T13). Material and methods Women who accepted screening had a first-trimester combined test (pregnancy-associated plasma protein A, free β-human chorionic gonadotropin, nuchal translucency interpreted with maternal age) and fetal DNA. Results Among 302 women screened (including 4 with affected pregnancies), our study demonstrated that DNA screening for trisomies 21, 18, and 13 achieved a detection rate of 100% with a false-positive rate of 0.02%, overcoming the traditional combined test with 75% of sensitivity and 4.7% of false-positive rate. In particular, fetal DNA may be useful in case of intermediate risk, in order to avoid invasive diagnostic procedures such villocentesis and amniocentesis. Because of fetal DNA costs, it can be used in clinical practice as a second step screening in case of intermediate or high risk at combined test. Conclusion Fetal DNA screening may be successfully implemented in routine care, achieving a high detection rate, low false-positive rate, and, consequently, greater safety with fewer invasive diagnostic tests than other methods of screening.

Prediction of preeclampsia using first trimester placental protein 13 and uterine artery Doppler

Objective To determine the predictive value for preeclampsia by using serum placental protein 13 (PP13) levels and uterine artery pulsatility index (PI) in the first trimester. Methods This is a prospective observational study that was conducted in pregnant women with gestational age 11–13+6 weeks. Transabdominal uterine artery Doppler and serum PP13 level were performed at the first trimester aneuploidy screening visit. The predictive values of these tests were calculated. Results Data from 353 pregnant women were analyzed. Twenty-nine cases developed preeclampsia. The sensitivity, specificity, positive predictive value and negative predictive value of serum PP13 levels in predicting preeclampsia were 51.7, 65.7, 11.9, and 93.8%, respectively. The sensitivity, specificity, positive predictive value and negative predictive value of the uterine artery PI in predicting preeclampsia were 10.3, 95.7, 17.7, and 92.3%, respectively. When a combination of serum PP13 levels and uterine artery PI were used to predict preeclampsia, the sensitivity, specificity, positive predictive value and negative predictive value were 58.6, 62.9, 12.4 and 94.4%, respectively. Conclusion This study demonstrated that the combination of serum PP13 level and uterine artery Doppler in the first trimester was increased the sensitivity for predicting preeclampsia.

Comparative Evaluation Between First and Second Trimester Aneuploidy Screening Tests with Amnio Synthesis Results

Comparative Evaluation Between First and Second Trimester Aneuploidy Screening Tests with Amnio Synthesis Results

VP03.04: First trimester aneuploidy screening using maternal characteristics, serum biochemical markers and nuchal translucency in a low‐risk population

To evaluate the performance of a first trimester screening for aneuploidy in detecting Trisomy 21, 18 and 13 using maternal charateristics, serum biochemical markers and fetal nuchal translucency measurement in a low-risk population. It also aims to determine the maternal variables associated with risk of Trisomy 21, 18 and 13. The FTS aneuploidy program was introduced in our institution on January 2014. This is a retrospective review of patients referred for FTS between January 2014 to June 2018 to determine the performance of our FTS program. The final risk for aneuploidy was obtained using the LifecycleTM prenatal screening software (Perkin Elmer, USA), with a cut-off value of 1:250. Pregnancy variables and outcomes were determined by reviewing delivery records. The incidence of aneuploidy in our institution was 3 per 1,000 livebirths. 134 women were included with age range 21–44 years (mean 34.79 years). Pre-pregnancy BMI showed 48 (35.8%) overweight and 14 (10.4%) obese mothers. 55 (41.0%) had associated comorbidities including DM, hypothyroidism, hypertension, APAS, pre-eclampsia. 14 (10.4%) women screened high risk for T21 and all neonates were karyotype negative. 120 (89.6%) women screened low risk and all neonates were karyotype negative. One woman screened high risk for T18 and T13 and the neonate was karyotype negative. Multivariate analysis showed that maternal age and NT MoM were significantly associated with risk for T21 (p < 0.05). For every increase in age, there is 1.35x increase risk for T21 (OR = 1.35; 95% CI:1.10–1.67; p = 0.005). For every increase in NT MoM, there is 13x increased risk for T21 (OR = 12.99; 95% CI:1.82–92.76; p = 0.01). The first trimester screening for Trisomy 21 in this low-risk population has a specificity of 89% and negative predictive value of 100% at a false-positive rate of 10%. Maternal age, nuchal translucency MoM and nasal bone were significantly associated with risk for Trisomy 21.

The effects of exogenous oral micronized progesterone on first trimester aneuploidy screening markers in women with threatened miscarriage: a matched case control study

Objectives To evaluate the effect of using progesterone due to early vaginal bleeding on aneuploidy screening markers in the first trimester. Material and methods This case control study includes the pregnant women who applied to our clinic in order to have a screening test for Down syndrome in the weeks of 11°/7−136/7. The patients were divided into three groups. Self reported vaginal bleeding with progesterone therapy (Bl+, Prg+, n:70), Self reported vaginal bleeding without progesterone therapy (Bl+, Prg−, n:70) and as a control group pregnant women who had no vaginal bleeding. (NoBl, NoPrg, n:70). In all patients, free beta-human chorionic gonadotrophin (β-hCG), pregnancy associated plasma protein-A (PAPP-A) levels and nuchal translucency (NT) thickness were analyzed. Mean MoMs of the markers were compared between three groups. Results In the two groups with vaginal bleeding (Bl+, Prg + and Bl+, Prg−) the free β-Hcg MoM values were statistically higher (1.22 ± 0.72, 0.98 ± 0.45, respectively) compared to the No Bleeding/No Progesterone group (0.81 ± 0.52) (p ≤ 0.001, p ≤ .01, respectively). However, no significant difference was found between the free β-hCG MoM value of women with Bl+, Prg + group (1.22 ± 0.72) and Bl+, Prg − group (0.98 ± 0.45). (p: .053, significance level limitation with Bonferroni correction p: .017). PAPP-A and NT thickness did not differ significantly between the groups. Conclusion Our data did not find an association between the use of oral progesterone and any alternations in first trimester screening parameters. Regardless of the progesterone usage, vaginal bleeding in the first trimester pregnancies increased the free β-hCG MoM values compared to pregnancies without vaginal bleeding during pregnancy.

Can We Use Non Invasive Prenatal Testing to Determine Adverse Obstetrics Outcomes? [07K

INTRODUCTION: The purpose of this study was to determine if an increased fetal fraction of cell free DNA (cfDNA) in maternal plasma collected during first and second trimester aneuploidy screening is predictive of adverse obstetric complications related to placental dysfunction including preeclampsia, IUGR, preterm birth, PIH and GDM. Therefore possibly implementing early interventions which may reduce the mortality and morbidity associated. METHODS: Retrospective study on women with singleton pregnancies who underwent first/second trimester noninvasive Prenatal Testing between 2017 and 2019 at Brooklyn Hospital Center. The fetal fraction of each sample, gestational age and maternal weight was obtained. EMR was used to obtain maternal characteristics/obstetric records such as age, BMI, ethnicity, parity, significant past medical history, social history, antepartum course and gestational age at delivery. Obstetric complications, if any, were identified. Data was transcribed to Microsoft Excel, eliminating any definitive patient identifiers to maintain confidentiality during analysis. Statistical analysis utilized descriptive statistics, the Students t-test for equality of means and linear regression. Probability outcomes &lt;0.05, were statistically significant. RESULTS: Patients with preeclampsia had a mean CfDNA fetal fraction of 8.86% +3% which was statistically significant (P=.040) as compared to 11.61% + 5% for the non-preeclampsia group. The BHCG from sequential part 1 was higher in the preeclampsia group (P&lt;.05). CONCLUSION: Our results indicated fetal fraction and BHCG (from Sequential Part 1) are predictive of preeclampsia. No other obstetric complications correlated to fetal fraction CfDNA. However there was a narrow sample size of obstetric complications and complete serum marker profiles for sequential screens.

Pregnancy associated plasma protein A: An indicator of adverse obstetric outcomes in a South India population.

Objective:First trimester aneuploidy screening (FTAS) has become an integral part of antenatal care in most of centers in India. The serum markers used for FTAS are pregnancy-associated plasma protein A (PAPP-A) and beta human chorionic gonadotropin. In the present study, we aimed to assess the role of PAPP-A in specific adverse fetal maternal events. To analyze pregnancy outcomes with low maternal PAPP-A (≤5th percentile) at the FTAS screening test in southern India, and them compared with a control group of >5th percentile value.Materials and Methods:A total of 1800 consecutive pregnancies in the first trimester were followed up with PAPP-A levels. The study group consisted 108 subjects, which was compared with a matched control group of 288 subjects. The outcomes considered were spontaneous abortions, fetal anomalies, preterm delivery (PTD), hypertension in pregnancy, intrauterine growth restriction, gestational diabetes, mode of delivery, and birthweight.Results:For our grouped data, the 5th percentile value for PAPP-A was 0.49 multiple of medians, (incidence-6%). The incidence of fetal major anomalies was higher in the study group [odds ratio (OR): 1.87]. The incidence of minor anomalies, gestational diabetes, and hypertensive disorders was higher in the study group but not statistically significant. The total rate of PTDs (OR:2.1), small-for-gestation-age fetuses (OR:2.3), and low birthweight babies (OR- 2.12) was significantly higher in the study group. We found positive likelihood ratio of 1.4 for PTD, 2 for <5th percentile birthweight, and 1.7 for <10th centile birthweight.Conclusion:Low PAPP-A pregnancies are at risk of various obstetric complications. Hence, such a pregnancy should have closer surveillance. Further research work on intervention strategy is needed.

643: A survey of subjective experience toward the first trimester aneuploidy screening ultrasound

643: A survey of subjective experience toward the first trimester aneuploidy screening ultrasound

EP04.27: First trimester Trisomy 21 screening in Peru

Improving our performance in first trimester Down screening. All pregnant women between 11 and 13 weeks were offered first trimester aneuploidy screening in our clinic. Fetal Medicine Foundation (FMF) first trimester soft markers quality published criteria were followed. All the scans were performed by FMF accredited physicians. Pregnant women with basal risk ≥ 1/200 were called high basal risk group (HBRG). Biochemical test (PAPP-a + free beta CGh = BCT) was offered to pregnant women in the HBRG. Cut points for adjusted risk (AR) stratification were ≥ 1/50 (high adjusted risk = HAR) and ≤ 1/1000 (low adjusted risk = LAR) for ultrasound assessment. BCT was offered to pregnant women with AR between 1/50 and 1/1000. An AR ≥ 1/100 in the combined screening test (CST) was considered HAR. Fetuses with nuchal translucency thicker than 3.5mm and those with anomalies were also qualified as HAR. EP04.27: Table 1. BCT sample taken 1499 (57%) 10644 pregnancies were scanned. 757 were excluded (363 inappropriate CRL, 334 twins, 7 not alive, 3 acranea and 51 bleeding controls). 9886 fetuses have risk assessment. There were 35 trisomy 21 and 17 other aneuploidies. More than 25% of the pregnant women were asked for blood testing, but less than 60% of them had them done. Nuchal translucency thicker than 3.5mm help to identify two additional T21 fetuses and 10 with other aneuploidies. DR was estimated in 77% for a False positive rate of 2%. 52 euploid fetuses with mayor anomalies were also identified. Self-financing of health expense limits the quality of aneuploidy screening. Contingent protocols could help to improve it.

The sudden death of the combined first trimester aneuploidy screening, a single centre experience in Belgium

Article The sudden death of the combined first trimester aneuploidy screening, a single centre experience in Belgium was published on November 1, 2019 in the journal Clinical Chemistry and Laboratory Medicine (CCLM) (volume 57, issue 11).