First-trimester Aneuploidy Screening Research Articles

Trends in Reporting of Nuchal Translucency Measurements After the Clinical Introduction of Cell-Free DNA Screening.

Nuchal translucency (NT) measurement in conjunction with serum analytes has been used for first-trimester aneuploidy screening in the United States since 2005. We sought to analyze the trends in reporting of NT measurements to the Nuchal Translucency Quality Review program in all pregnancies beginning after the clinical introduction of cell-free DNA (cfDNA) screening for fetal aneuploidy in 2011. Overall, reported NT measurements decreased 74.3% from 2012 to 2022. A similar decline was noted among individuals with pregnancies at increased risk for aneuploidy based on patient age and twin gestations. The decrease in reporting aligns temporally with the availability of cfDNA screening and the coronavirus disease 2019 (COVID-19) pandemic.

Associations between first-trimester screening biomarkers and maternal characteristics with gestational diabetes mellitus in Chinese women.

Gestational diabetes mellitus (GDM) can result in adverse maternal and neonatal outcomes. Predicting those at high risk of GDM and early interventions can reduce the development of GDM. The aim of this study was to examine the associations between first-trimester prenatal screening biomarkers and maternal characteristics in relation to GDM in Chinese women. We conducted a retrospective cohort study of singleton pregnant women who received first-trimester aneuploidy and preeclampsia screening between January 2019 and May 2021. First-trimester prenatal screening biomarkers, including pregnancy-associated plasma protein A (PAPP-A), free beta-human chorionic gonadotropin, and placental growth factor (PLGF), along with maternal characteristics, were collected for analysis in relation to GDM. Receiver operating characteristic (ROC) curve and logistic regression analyses were used to evaluate variables associated with GDM. Of the 1452 pregnant women enrolled, 96 developed GDM. PAPP-A (5.01 vs. 5.73 IU/L, P < 0.001) and PLGF (39.88 vs. 41.81 pg/mL, P = 0.044) were significantly lower in the GDM group than in the non-GDM group. The area under the ROC curve of combined maternal characteristics and biomarkers was 0.73 (95% confidence interval [CI] 0.68-0.79, P < 0.001). The formula for predicting GDM was as follows: P = 1/[1 + exp (-8.148 + 0.057 x age + 0.011 x pregestational body mass index + 1.752 x previous GDM history + 0.95 x previous preeclampsia history + 0.756 x family history of diabetes + 0.025 x chronic hypertension + 0.036 x mean arterial pressure - 0.09 x PAPP-A - 0.001 x PLGF)]. Logistic regression analysis revealed that higher pregestational body mass index (adjusted odds ratio [aOR] 1.03, 95% CI 1.01 - 1.06, P = 0.012), previous GDM history (aOR 9.97, 95% CI 3.92 - 25.37, P < 0.001), family history of diabetes (aOR 2.36, 95% CI 1.39 - 4.02, P = 0.001), higher mean arterial pressure (aOR 1.17, 95% CI 1.07 - 1.27, P < 0.001), and lower PAPP-A level (aOR 0.91, 95% CI 0.83 - 1.00, P= 0.040) were independently associated with the development of GDM. The Hosmer-Lemeshow test demonstrated that the model exhibited an excellent discrimination ability (chi-square = 3.089, df = 8, P = 0.929). Downregulation of first-trimester PAPP-A and PLGF was associated with the development of GDM. Combining first-trimester biomarkers with maternal characteristics could be valuable for predicting the risk of GDM.

Prenatal screening after preimplantation genetic testing for aneuploidy: time to evaluate old strategies

Research questionWhat is the performance of the first-trimester aneuploidy screening in pregnancies achieved after in vitro fertilization (IVF) and preimplantation genetic testing for aneuploidy (PGT-A) transferred embryos in our medical setting? DesignRetrospective cohort study in a single tertiary care centre between January 2013 and June 2022. A total of 20,237 women have had a prenatal follow-ups in our clinical centre and were included in our study. Three groups were included: singleton pregnancies conceived after the transfer of a PGT-A screened euploid-embryo (n=511), singleton pregnancies conceived after IVF without PGT-A (n= 3,291), and singleton naturally conceived pregnancies (n= 16,436). ResultsThe conventional combined test for PGT-A pregnancies had a specificity of 91% and the sensitivity could not be calculated since there were no cases of fetal aneuploidy in this group. In 89.1% of pregnancies conceived after IVF with PGT-A with a high-risk for T21, 18, or 13, the result was related to advanced maternal age. ConclusionsThe current screening strategy for T21, T18, and T13 can generate unnecessary tests in pregnancies achieved by IVF-PGT-A. A new protocol is needed for these patients with a greater weight on ultrasound markers.

Is There a Relationship Between First-Trimester Aneuploidy Screening Serum Biomarker Values and Nuchal Translucency Measurements and the Development of Retinopathy of Prematurity (ROP) in Premature Infants?

Purpose The purpose of this study is the evaluation of serum biomarker and nuchal translucency (NT) values measured during first-trimester aneuploidy screening in terms of the development of retinopathy of prematurity (ROP) in premature infants and investigation of whether the development of ROP is associated with these parameters. Methods In this retrospective cohort study, 3,750 premature infants who underwent ROP screening from 2016 to 2021 were identified from the hospital medical record system. Among 2,130 premature babies screened for first-trimester aneuploidy, 166 babies whose mothers had single pregnancieswere screened by the same methodand showed the same clinical course in both eyes were included in the study. The infants were divided into two groups according to the presence of ROP, and those with ROP were further evaluated in two groups according to the presence of proliferation. The groups were compared in terms of the serum values of human chorionic gonadotropin and pregnancy-associated plasma protein A, among aneuploidy screening biomarkers, and NT measurements. Results There was no significant difference in the evaluated serum biomarker values and NT measurements between the ROP and non-ROP groups or between the proliferative ROP, non-proliferative ROP, and non-ROP groups. Conclusion Our results showed that first-trimester aneuploidy screening serum biomarker values and NT measurements were not associated with the development of ROP in premature infants.

Are Fetal Nuchal Translucency Thickness and Crown-rump Length Associated with Maternal Hematological and Biochemical Profile?

Background: Nuchal translucency (NT) and crown-rump length (CRL) measurements are useful fetal screening tests. The extent to which maternal hematological and biochemical profiles may impact these markers has not been evaluated. This study is designed to address this issue. Methods: Data from the first-trimester screening for aneuploidy and maternal laboratory results, including maternal fasting blood sugar (FBS), thyroid stimulating hormone (TSH), hemoglobin, hematocrit, vitamin D3, and ferritin, were collected at 11 - 13 weeks of gestational age. The association between NT/CRL and maternal laboratory tests was analyzed and reported. Results: 258 women with a mean ± SD age of 32.6 ± 5.2 years participated in the study. NT and CRL values were not correlated with maternal laboratory variables. Otherwise, CRL was positively correlated with increasing maternal age, and NT was associated with increasing gestational age. Conclusions: The results of this study indicate that NT and CRL values at 11 - 13 weeks of gestation are independent of maternal hemoglobin, FBS, vitamin D3, and ferritin status.

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.

Does endometrial thickness affect birth weight and serum levels of pregnancy-associated plasma protein-A in frozen cycles?

ObjectiveTo investigate whether endometrial thickness (EMT) affects birth weight and maternal serum pregnancy-associated plasma protein-A (PAPP-A) level in singleton pregnancies following frozen–thawed blastocyst transfer (FET). MethodsThis retrospective study included women who underwent first-trimester combined screening for aneuploidy after FET, and subsequently delivered a singleton live birth after 24 weeks of gestation at a private in-vitro fertilization centre. The subjects were stratified into three groups based on EMT percentiles: <7.7 mm (<10th percentile), 7.7–12 mm (10–90th percentile), and > 12 mm (>90th percentile). Multi-variable linear regression analysis was undertaken to identify the association between birth weight and EMT after adjusting for variables with p < 0.1 on univariate analysis. ResultsIn total, 560 women met the inclusion criteria. Mean (±standard deviation) birth weight was 3127 ± 783 g in those with EMT < 7.7 mm, 3225 ± 644 g in those with EMT 7.7–12 mm, and 3256 ± 599 g in those with EMT > 12 mm (p = 0.577). Mean PAPP-A and PAPP-A < 0.5 rates were similar in the three groups. On multi-variate analysis, maternal serum PAPP-A was found to be a significant predictor of birth weight (p = 0.013), but EMT was not found to be predictive of birth weight on univariate or multi-variate analysis. ConclusionThis study provided a new angle to evaluate the association between EMT and neonatal birth weight by analysing this association along with maternal serum PAPP-A as a marker for placental function, suggesting that EMT is not an independent factor for neonatal birth weight.

Prenatal screening for preeclampsia: the roles of placental growth factor and pregnancy–associated plasma protein A in the first trimester and placental growth factor and soluble fms-like tyrosine kinase 1–placental growth factor ratio in the early second trimester

Professional societies have recommended universal first trimester screening for preeclampsia and a second or third trimester soluble fms-like tyrosine kinase-1-placental growth factor ratio test to assess for preeclampsia and its severity. However, it may not be feasible to implement the most optimal screening protocol for preeclampsia in the first trimester which uses a combination of maternal characteristics, maternal biophysical and biochemical markers due to limitations in the access to uterine artery doppler ultrasound. There are inconsistent findings on how early in the second trimester the fms-like tyrosine kinase-1-placental growth factor ratio begins to provide useful information in preeclampsia prediction. This study aimed to assess the accuracy of (1) a combination of maternal characteristics, maternal serum pregnancy-associated plasma protein A, and placental growth factor in the screening for preeclampsia in the first trimester; and (2) placental growth factor or soluble fms-like tyrosine kinase-1-placental growth factor ratio in the prediction of preeclampsia in the early second trimester. This retrospective case-control study used frozen residual blood samples from women who had aneuploidy screening and delivered at a tertiary center. The case group included pregnancies with gestational hypertension or preeclampsia (further classified as early-onset [birth at <34 weeks' gestation] and preterm preeclampsia [birth at <37 weeks' gestation]). Each case was matched with 3 control pregnancies by date of blood sample draw, gestational age at first blood sample draw, maternal age, maternal ethnicity, type of multiple-marker screening, and amount of residual sample. Mann-Whitney U tests were used to assess the associations between serum markers and the risk of preeclampsia. Logistic regressions were used to assess if the risk of preeclampsia can be predicted using a combination of maternal characteristics and serum markers. The case group included 146 preeclampsia and 295 gestational hypertension cases. Compared with the controls, preeclampsia cases had significantly lower first-trimester pregnancy-associated plasma protein A and placental growth factor. At a 20% false-positive rate, 71% of early-onset and 58% of preterm preeclampsia cases can be predicted using maternal characteristics, pregnancy-associated plasma protein A, and placental growth factor. Preeclampsia cases had lower second-trimester placental growth factor and a higher soluble fms-like tyrosine kinase-1-placental growth factor ratio. At a 10% false-positive rate, 80% and 53% of early-onset preeclampsia can be predicted using maternal characteristics and placental growth factor or soluble fms-like tyrosine kinase-1-placental growth factor ratio, respectively. The current first-trimester aneuploidy screening programs may be expanded to identify women at increased risk of developing preeclampsia. Early in the second trimester, placental growth factor alone provided better prediction for preeclampsia compared with the soluble fms-like tyrosine kinase-1-placental growth factor ratio.

First-Trimester Evaluation of Cleft Lip and Palate by A Novel Two-Dimensional Sonographic Technique: A Prospective Study.

The study aims to evaluate the value of the mandible transection head-side shifting method (MTHSM) by 2-dimensional sonography in the screening of fetal cleft lip and palate (CLP) during the nuchal translucency scans. A total of 7,336 fetuses enrolled for first-trimester aneuploidy screening were included in this prospective study. A sequential scanning approach from the mandible transection toward the head was used for the assessment of the palate in the midsagittal, axial, and coronal sections. Observe the continuity of the palatal line, upper alveolar ridge, and primary palate. All fetuses were followed by second-trimester scans and postnatal evaluation. A total of 18 cases of CLP were identified in the first trimester based on this method. Out of 18, 9 (50.0%) were unilateral CLP, 4 (22.2%) were bilateral CLP, and 5 (27.8%) were median CLP. There were no false-positive results found. Three were missed but confirmed in the second-trimester anomaly scan, including 2 cases of isolated cleft palate (CP) and one of isolated cleft lip (CL). Firsttrimester diagnosis of CLP using MTHSM had a sensitivity of 85.7%, a specificity of 100%, a positive predictive value of 100%, and a negative predictive value of 99.9%. The mandible transection head-side shifting method is feasible in assessing CLP at the time of routine first-trimester sonographic screening.

Cost-effectiveness of ultrasound before non-invasive prenatal screening for fetal aneuploidy.

To determine the cost-effectiveness of first-trimester ultrasound before fetal aneuploidy screening with cell-free DNA (cfDNA) compared with screening by cfDNA alone. A decision analytic model was constructed for 400 000 pregnant individuals with advanced maternal age who desired first-trimester aneuploidy screening with cfDNA in the USA, to compare two screening strategies: (1) cfDNA only and (2) ultrasound performed within 4 weeks before cfDNA. Input parameters included probability of fetal aneuploidy, cfDNA performance, desire for diagnostic testing, pregnancy outcomes, and pregnancy and lifetime costs and utilities. The primary outcome measure was the incremental cost-effectiveness ratio (ICER), in terms of cost in 2020 US dollars (USD) per quality-adjusted life year (QALY) gained. Secondary outcomes included procedure-related loss, pregnancy termination, live birth with aneuploidy, live birth with structural anomaly and stillbirth. Discounting was performed at 3% per year with an estimated maternal lifespan of 81 years starting at the age of 35 years. One-way, multiway and Monte Carlo probabilistic sensitivity analyses were performed. All base-case estimates and ranges of uncertainty were derived from the literature. The willingness-to-pay threshold was set at 100 000 USD per QALY. In the base-case analysis, ultrasound before cfDNA screening was more cost-effective than cfDNA screening without pretest ultrasound, with an ICER of 12 588 USD and higher net monetary benefit (24 241 vs 20 466). The strategy involving ultrasound before cfDNA was more costly by 544 USD but also more effective (by 0.04 QALY) compared with cfDNA alone. Base-case results were robust in sensitivity analyses with the strategy involving ultrasound before cfDNA always remaining the most cost-effective approach with the highest net monetary benefit. First-trimester ultrasound before cfDNA is a more cost-effective strategy for non-invasive prenatal aneuploidy screening compared with cfDNA alone. © 2022 International Society of Ultrasound in Obstetrics and Gynecology.

The effects of dydrogesterone treatment on first-trimester aneuploidy screening markers and nuchal translucency in women with threatened miscarriage.

To evaluate the effects of dydrogesterone treatment on first-trimester aneuploidy screening markers and nuchal translucency (NT) in women with threatened miscarriage. This study is an prospective case-control study. One hundred seven pregnant women who applied for the first-trimester screening test at 11-14th weeks of gestation were included in the study. The study group consisted of 53 pregnant women using oral dydrogesterone due to the threat of miscarriage for at least 2 weeks and without vaginal bleeding for the last 72 h at the time of enrollment. The control group was composed of 54 healty pregnant women. Fetal Crown-rump length (CRL), NT, pregnancy-associated plasma protein-A (PAP-A) level, and free beta-human chorionic gonadotropin (free B-hCG) levels of the patients were measured. One hundred seven patients included in the study, 54 (50.46%) were in the control group, and 53 (49.54%) were in the study group using dydrogesterone. Age, body mass index, gravida, parity and abortion numbers, gestational weeks, and CRL values of the two groups were congruent. In the comparison-free B-hCG, PAPP-A and NT values of both groups, no statistically significant difference was found between the two groups in terms of first-trimester test results and NT (p<0.05). The use of dydrogesterone in first-trimester pregnancies does not affect first-trimester screening tests and nuchal translucency.

Body Stalk Anomaly Complicated by Ectopia Cordis: First-Trimester Diagnosis of Two Cases Using 2- and 3-Dimensional Sonography

Body stalk anomaly is a severe defect of the abdominal wall, characterized by the evisceration of abdominal organs and, in more severe cases, thoracic organs as well. The most serious condition in a body stalk anomaly may be complicated by ectopia cordis, an abnormal location of the heart outside the thorax. The aim of this scientific work is to describe our experience with the prenatal diagnosis of ectopia cordis as part of the first-trimester sonographic screening for aneuploidy. We report two cases of body stalk anomalies complicated by ectopia cordis. The first case was identified during a first ultrasound examination at 9 weeks of gestation. The second was identified during an ultrasound examination at 13 weeks of gestation. Both of these cases were diagnosed using high-quality 2- and 3-dimensional ultrasonographic images obtained by the Realistic Vue and Crystal Vue techniques. The chorionic villus sampling showed that the fetal karyotype and CGH-array were both normal. In our clinical case reports, the patients, immediately after the diagnosis of a body stalk anomaly complicated by ectopia cordis, opted for the termination of pregnancies. Performing an early diagnosis of a body stalk anomaly that is complicated by ectopia cordis is desirable, considering their poor prognoses. Most of the reported cases in the literature suggest that an early diagnosis can be made between 10 and 14 weeks of gestation. A combination of 2- and 3-dimensional sonography could allow an early diagnosis of body stalk anomalies complicated by ectopia cordis, particularly using new ultrasonographic techniques, the Realistic Vue and the Crystal Vue.

Oral supplementation of α-lipoic acid (ALA), magnesium, vitamin B6 and vitamin D stabilizes cervical changes in women presenting risk factors for preterm birth.

Recently, the PTB risk has been related to the objective measurement of cervical length (CL), since a CL of less than 25 mm is an accurate predictor of increased risk of PTB. Primary prevention of preterm labor is based on the early identification of symptoms and on pharmacological treatments with tocolytic drugs for inhibition of uterine contractions that are associated with a shortening of the cervix. Unfortunately, most of these drugs have important side effects. This study aimed to evaluate whether the administration of a combination of oral α-lipoic acid (ALA), magnesium, vitamin B6 and vitamin D to pregnant women presenting risk factors for PTB could reduce the rate of cervical shortening at 19-22 weeks of gestational age. A total of 122 women attending the first-trimester aneuploidy screening at 11-14 weeks of pregnancy and presenting risk factors for PTB were included in the study. Cervical length significantly decreased in the control group compared with the treatment group (-3.86 ± 1.97 vs. 1.50 ± 1.26; p=0.02). Although the rate of preterm birth did not significantly decrease (9.5% vs. 5.1%), admission for threatened PTB was statistically reduced in the treatment group compared with the control group (3.4% vs. 14.3%). Oral supplementation of ALA, magnesium, vitamin B6 and vitamin D significantly counteracted cervix shortening in pregnant women presenting risk factors for PTB.

Ethical Aspects of Prenatal DNA Testing.

Cell-free DNA (cfDNA) first-trimester screening for fetal aneuploidies, as a non-invasive, safe, and rather accurate method, has changed prenatal screening policies all over the world. Owing to aggressive marketing, cfDNA screening tests exhibit global popularity and a rapid spread in routine prenatal care. However, wide availability of the tests, together with observed difficulties in the test's interpretation, bring to light several serious ethical concerns. To date it is vital to identify and address the most important ethical, legal, and social issues regarding prenatal screening tests. Furthermore, guidelines and restrictions in certain cfDNA screening advancements that may provide information regarding fetal genetic traits of unknown clinical significance, conditions with variable penetrance, or late-onset conditions, should be considered.

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

P-769 Endometrial thickness is not associated with birthweight as well as serum levels of pregnancy-associated plasma protein-A: a retrospective analysis of 560 newborns following frozen cycles

Abstract Study question Does endometrial thickness (EMT) affect birthweight and maternal serum evels of pregnancy-associated plasma protein-A (PAPP-A) in singleton pregnancies following frozen-thawed blastocyst transfer (FET)? Summary answer EMT does not significantly affect birthweight and maternal serum evels of PAPP-A in singleton pregnancies following FET. What is known already Several studies have shown an association between EMT and low birth weight in pregnancies resulting from fresh embryo transfers. Supraphyiological levels of steroid hormone during ovarian stimulation may be responsible for poor fetal growth. Few studies have investigated the relationship between EMT and fetal growth potential in frozen-thawed embryo transfers. Study design, size, duration This retrospective study included women who underwent first-trimester combined screening for aneuploidy after frozen-thawed blastocyst transfer and subsequently delivered a singleton live birth after 24 weeks of gestations between January 2016 and July 2020 in a private IVF center. Participants/materials, setting, methods A total of 560 women met the inclusion criteria and were stratified into three groups based on the EMT percentiles: &amp;lt;7.7 mm (&amp;lt;10th percentile), 7.7–12 mm (10-90th percentile), and &amp;gt;12 mm (&amp;gt;90th percentile). The primary outcome measures were mean birth weight and mean PAPP-A level. A multivariable linear regression analysis was carried out to identify the association between birth weight and EMT after adjusting for variables found at &amp;lt; 0.1 level in the univariate analysis. Main results and the role of chance The mean birth weight was 3127 ± 783 g in those with EMT &amp;lt;7.7 mm 3225 ± 644 g in those with EMT 7.7-12 mm, and 3256 ± 599 g in those with EMT &amp;gt;12 mm (p = 0.577). The mean PAPP-A levels and PAPP-A&amp;lt;0.5 rates were similar in the groups, as well. In multivariate analysis, the number of previous ART attempts and maternal serum levvels of PAPP-A were found to be significant predictors of birth weight (p = 0.001 and p = 0.013, respectively). EMT was not a predictor of birth weight in both univariate and multivariate analyses. The multivariate logistic regression analysis indicated that the number of previous ART attempts was an independent factor for low birth weight (OR:1.39, 95%CI:1.09-1.76, p = 0.006). Limitations, reasons for caution The study has inheret limitations due to its retrospective nature. Further studies are needed to investigate the relationship between EMT and birth weight along with maternal serum levels of PAPP-A. Wider implications of the findings Our study provided a new angle of view for evaluating the association between EMT and neonatal birth weight by analyzing this association along with maternal serum levels of PAPP-A as a marker for placental function, suggesting that EMT is not an independent factor for neonatal birth weight. Trial registration number NA

First-trimester prediction model for placental vascular disorders: An observational prospective study.

This study aims to develop a multivariable predictive model for the risk of placental vascular complications (PVC), by using biochemical, biophysical, anamnestic and clinical maternal features available at the first trimester. PVC include gestational hypertension, preeclampsia, placenta abruption, intrauterine growth restriction (IUGR), and stillbirth. Prospective study that included all singleton pregnancies attending the first-trimester aneuploidy screening (11+0-12+6weeks) at Obstetrics Unit of the University Hospital of Modena, in Northern Italy, between June 2018 and December 2019. In a total of 503 women included in the analysis, 40 patients were in the PVC group. The final prediction model for PVC included the following independent variables: pre-pregnancy BMI≥30 (OR=2.65, 95% CI=1.04; 6.75, p=0.0415), increasing values of mean arterial pressure (OR=1.06, 95% CI=1.02; 1.10, p=0.0008), PAPP-A<2.40465 U/L (OR=0.43, 95% CI=0.19; 0.96, p=0.0388) and decreasing values of PlGf (MoM) (OR=0.28, 95% CI=0.10; 0.79, p=0.0153). The area under the ROC curve was 79.4% indicating a satisfactory predictive accuracy. The best predictive cut-off for this score was equal to -2.562, which corresponds to a 7.2 % probability of having PVC. By using such a cut-off, the risk of PVC can be predicted in our sample with sensitivity equal to 82,4 % and specificity equal to 69,9 %. This model for early prediction of PVC is a promising tool to early identify women at greater risk for placenta vascular complications.

Relationship between extreme values of first trimester maternal pregnancy associated plasma Protein-A, free-β-human chorionic gonadotropin, nuchal translucency and adverse pregnancy outcomes

ObjectiveThe aim of our study was to investigate the relationship between extreme values of first trimester screening markers and adverse obstetric outcomes. Materials and methodsOur study was conducted by examining the prenatal and postnatal perinatal records of 786 singleton gestations between the ages of 18–40, who applied to Prof. Dr. Cemil Taşçıoğlu City Hospital outpatient clinics for first-trimester screening for aneuploidy, between January 1, 2017 and December 31, 2019. ResultsThe presence of small for gestational age (SGA) was found to be statistically significant for the <5 percentile (<0.37) pregnancy-associated plasma protein A (PAPP-A) group (p = 0.016). For <5 percentile β-hCG group, the presence of gestational diabetes mellitus (GDM), premature rupture of membrane (PROM) and preterm premature rupture of membrane (PPROM) was determined as a statistically significant risk (p = 0.015, p = 0.005, p = 0.02 respectively) In the univariate test, fetal death rate was found to be high for ≥90 percentile at nuchal translucency (NT), but the presence of fetal death was found to be statistically insignificant in logistic regression analysis. (p: 0.057). ConclusionFirst trimester screening test can be used in predicting pregnancy complications. In this study we found that serum levels of PAPP-A are associated with developing SGA, while GDM, PROM and PPROM are more common in low serum free β-hCG.

The Relationship Between First-Trimester Aneuploidy Markers and Birth Weight

OBJECTIVE: We aimed to determine the relationship between the first-trimester aneuploidy screeningma and the predicted weight at birth: Small for gestational age and large for gestational age. STUDY DESIGN: 594 low-risk pregnant women with a singleton pregnancy, who underwent first-trimester aneuploidy screening by measuring nuchal translucency, maternal serum free beta-human chorionic gonadotropin, and pregnancy-associated plasma protein-A were included in the study. Those weighing above the 3rd percentile and below the 10th percentile were defined as small for gestational age, and those over the 90th percentile were defined as large for gestational age. RESULTS: A total of 594 pregnant women were enrolled. The mean maternal age of the studied group was 28.8±5.5 years. Low maternal serum pregnancy-associated plasma protein-A levels and decreased nuchal translucency measurements were associated with the small for gestational age newborn (p&lt;0.001 and p=0.001, respectively). There is a significant correlation with large for gestational age for newborns only with an increase in maternal serum pregnancy-associated plasma protein-A levels (p=0.001). beta-human chorionic gonadotropin levels were not associated with the birth weight (p=0.735). CONCLUSION: Maternal serum pregnancy-associated plasma protein-A levels, one of the markers in first-trimester aneuploidy screening, can be used in the prediction of small for gestational age and large for gestational age However, due to its low correlation, it is not a suitable screening test for clinical practice.

PREIMPLANTATION GENETIC TESTING: Non-invasive prenatal testing for aneuploidy, copy-number variants and single-gene disorders.

The discovery of cell-free fetal DNA (cffDNA) in maternal plasma has enabled a paradigm shift in prenatal testing, allowing for safer, earlier detection of genetic conditions of the fetus. Non-invasive prenatal testing (NIPT) for fetal aneuploidies has provided an alternative, highly efficient approach to first-trimester aneuploidy screening, and since its inception has been rapidly adopted worldwide. Due to the genome-wide nature of some NIPT protocols, the commercial sector has widened the scope of cell-free DNA (cfDNA) screening to include sex chromosome aneuploidies, rare autosomal trisomies and sub-microscopic copy-number variants. These developments may be marketed as 'expanded NIPT' or 'NIPT Plus' and bring with them a plethora of ethical and practical considerations. Concurrently, cfDNA tests for single-gene disorders, termed non-invasive prenatal diagnosis (NIPD), have been developed for an increasing array of conditions but are less widely available. Despite the fact that all these tests utilise the same biomarker, cfDNA, there is considerable variation in key parameters such as sensitivity, specificity and positive predictive value depending on what the test is for. The distinction between diagnostics and screening has become blurred, and there is a clear need for the education of physicians and patients regarding the technical capabilities and limitations of these different forms of testing. Furthermore, there is a requirement for consistent guidelines that apply across health sectors, both public and commercial, to ensure that tests are validated and robust and that careful and appropriate pre-test and post-test counselling is provided by professionals who understand the tests offered.