Nuchal Translucency Values Research Articles

Identification of Putative Biomarkers in Cerebral Palsy: A Meta-Analysis and Meta-Regression

BackgroundCerebral palsy (CP) is a neurological disorder that impairs motor abilities. Identifying maternal biomarker derangements can facilitate further evaluation for early diagnosis, potentially leading to improved clinical outcomes. This study investigates the association between maternal biomarker derangements and CP development during the antenatal period. MethodsA systematic search was conducted in MEDLINE, EMBASE, and Cochrane databases, following MOOSE guidelines. Data on participants exceeding biomarker thresholds (95th and 5th percentiles) were extracted for combined odds ratio estimation. Geometric mean differences, reported as multiples of the median (MoMs), were used to analyze changes in marker levels. Trimesterwise subgroup analysis and metaregression assessed the impact of variables on outcomes. ResultsFive observational studies (1552 cases, 484,985 controls) revealed lower maternal pregnancy-associated plasma protein A levels were associated with CP (pooled odds ratio [OR] = 1.60, 95% confidence interval [CI] = 1.22 to 2.09; I = 0%), with a −0.04 MoM geometric mean difference. Lower maternal beta-human chorionic gonadotropin (HCG) levels in first and second trimesters indicated a pooled OR = 1.18 (95% CI = 0.85 to 1.63; I = 57%). Sensitivity analysis showed an OR = 1.40 (95% CI = 1.08 to 1.82; I = 0%), with a −0.07 MoM geometric mean difference. Metaregression identified primigravida status as negatively influencing beta-HCG levels. Elevated nuchal translucency values and CP presented a pooled OR = 1.06 (95% CI = 0.77 to 1.44; I = 0%). ConclusionLower maternal pregnancy-associated plasma protein A levels during the first trimester and lower beta-HCG levels in the first and second trimesters are associated with CP development in children. Future research should validate the predictive utility of these biomarkers and explore novel ones through large-scale cohort studies.

Selection of prenatal screening with nuchal translucency > 95th centile and below 99th centile: a 4-year observational study with real-world data.

We sought to analyze the genetic outcomes of fetuses with nuchal translucency (NT) > 95th centile, and determine whether prenatal genetic counseling, chromosomal microarray analysis (CMA) or non-invasive prenatal testing (NIPT) are truly beneficial for the outcomes of fetuses with increased NT > 95th centile and below 99th centile. A total of 535 pregnant women were included in this study, with a fetal NT > 95th centile at 11-13+6weeks of gestation from January 2017 to December 2020. 324 pregnant women with fetal NT > 95th centile and below 99th centile combined with other risk factors and NT > 99th centile received prenatal diagnostic karyotype analysis and CMA, and 211 pregnant women with fetal isolated increased NT > 95th centile and below 99th centile were selected to carry out NIPT. A total of 211 pregnant women who underwent NIPT were included in the study, NIPT results showed that 8 high-risk cases were confirmed by prenatal diagnosis. Overall, the detection rate of NIPT was 3.79%. A total of 324 pregnant women with fetal NT > 95th centile and below 99th centile, along with other risk factors, and those with fetal NT > 99th centile, received karyotype analysis and CMA for prenatal diagnosis. Among them, a total of 73 genetic abnormalities were detected, including 45 cases of chromosomal aneuploidy, 7 cases of structural abnormalities, and 21 cases of copy number variations (CNVs) with a size of less than 10Mb. In addition, the 73 women with genetic abnormalities are divided into three groups based on the NT measurement (Group 1: Fetuses with NT > 95th centile and below 99th centile, Group 2: Fetuses with NT > 99th centile, and Group 3: Fetuses with NT > 99th centile). 13.11% (8/61) of pathogenic genetic abnormalities (6 chromosomal aneuploidy, 1 structural abnormality, and 1 likely pathogenic CNV) will be missed if genetic counseling and prenatal genetic testing were not conducted in fetuses with increased NT > 95th centile and below 99th centile combined with other risks. Pathogenic CNVs were the most common abnormalities in group 3, and one likely pathogenic CNV was detected in group 1 and group 3, respectively, and a total of 14 CNVs of unknown clinical significance (VOUS) were detected. Through this study, we demonstrated that the critical value of NT > 95th centile for invasive detection or NIPT. Invasive testing combined with CMA may be recommended for fetuses with NT > 95th centile and below 99th centile and with other risks. But when isolated NT > 95th centile and below 99th centile, NIPT would be appropriate.

Associations between genomic aberrations, increased nuchal translucency, and pregnancy outcomes: a comprehensive analysis of 2,272 singleton pregnancies in women under 35.

Regarding increased nuchal translucency (NT), the cutoff values used are heterogeneous in clinical practice, this study aims to assess the efficacy of prenatal detection for chromosomal abnormalities and pregnancy outcomes in fetuses with varying NT thicknesses, in order to provide data that supports informed prenatal diagnosis and genetic counseling for such cases. We included 2,272 pregnant women under 35 with singleton pregnancies who underwent invasive prenatal diagnosis between 2014 and 2022. The cohort comprised 2,010 fetuses with increased NT (≥2.5 mm) and 262 fetuses with normal NT but exhibiting a single soft marker. Prenatal diagnoses were supported by chromosomal microarray (CMA) and copy number variation sequencing (CNV-seq) analyses. The detection rates of numerical chromosomal abnormalities were 15.4% (309/2,010) and 17.3% (297/1,717) in the NT ≥2.5 and ≥ 3.0 groups, respectively. Pathogenic/likely pathogenic CNV incidence increased with NT thickness (χ2 = 8.60, p < 0.05), peaking at 8.7% (22/254) in the NT 4.5-5.4 mm group. Structural defects were found in 18.4% of fetuses with NT values between 2.5 mm and 2.9 mm. Chromosomal abnormality rates in the isolated increased NT groups of 2.5-2.9 mm and 3.0-3.4 mm were 6.7% (16/239) and 10.0% (47/470), respectively, with no statistical significance (χ2 = 2.14, p > 0.05). Fetuses with NT thickness between 2.5 and 2.9 mm combined with the presence of soft markers or non-lethal structural abnormalities exhibited a significantly higher chromosomal abnormality risk (19.0%) compared to fetuses with isolated increased NT ranging from 3.5 to 4.4 mm (13.0%). Pregnancy termination rates increased with NT thickness (χ2 = 435.18, p < 0.0001), ranging from 12.0% (30/249) in the NT 2.5-2.9 mm group to 87.0% (141/162) in the NT ≥ 6.5 mm group. CMA or CNV-seq exhibited good performance in identifying genomic aberrations in pregnancies with increased NT thickness. NT ranging from 2.5 mm to 2.9 mm elevated the risk of fetal chromosomal abnormalities, particularly when combined with other soft markers.

The role of the ratio of first trimester CRL (crown rump length) measurement to NT (nuchal translucency) measurements in predicting early-onset fetal growth restriction (FGR)

Objective: Our aim is to evaluate the role of the ratio of first-trimester CRL (crown rump length) measurement to NT (nuchal translucency) measurements in predicting early-onset fetal growth restriction (FGR) and to contribute to the existing literature.&#x0D; Methods: In the present case-control study, fetuses with early-onset FGR were compared to a frequency matched low risk control group. This study was conducted in the perinatology clinic of Ankara Bilkent City Hospital between 2020 and 2023. Maternal age, gravidity, parity, crown-rump length (CRL), and nuchal translucency (NT) measurements were compared between pregnant women with early onset FGR (n=39) and pregnant women without FGR (n=50).&#x0D; Results: The mean age of pregnant women with FGR who participated in the study was 27.1±0.8, and the mean age of pregnant women without FGR was 26.3±0.6, and no statistically significant difference was found between the two groups (p=0.4)). Mean CRL was 54.98±1.08 mm in the group with FGR and 56.99±1.11 mm in the group without FGR; there was no significant difference between the two groups (p=0.2). The NT value was 1.11 ± 0.04 mm in the FGR group and 1.13 ± 0.02 mm in the without FGR group, there was no significant difference between the two groups (p=0.73). The mean CRL/NT ratio was 52.00±2.33 in the group with early onset FGR and 51.46±1.48 in the group without FGR and there was no statistically significant difference between the two groups (p=0.83).&#x0D; When the early developing FGR group is evaluated within itself, the mean age at diagnosis was 31.7±0.3 weeks. EFW mean percentile at diagnosis was 4.5±0.6 and ac percentile was 2.9±0.4. The mean umbilical artery systole/diastole ratio (UA-SD) was 2.9±0.16 and the mean umbilical artery pulsatility index (UA-PI) was 1.02±0.05.&#x0D; Conclusion: Crown-rump length to nuchal translucency ratio is not clinically useful to predict early-onset FGR.

Nuchal Translucency and Congenital Heart Defects.

Nuchal translucency comprises a temporary accumulation of fluid in the subcutaneous tissue on the back of a fetus's neck, which accompanies the crown-rump length and is observed through an ultrasound performed between 11 and 13 weeks + 6 days gestation. Nuchal translucency is considered to be above normal when values are higher than the 95th/99th percentile or equal to or higher than 2.5/3.5 mm. The first connection between increased nuchal translucency and the presence of congenital heart defects is described in the study of Hyett et al., who observed that they are directly proportional. Since that time, several studies have been conducted to understand if nuchal translucency measurements can be used for congenital heart defect screening in euploid fetuses. However, there is great variability in the estimated nuchal translucency cutoff values for congenital heart defect detection. The purpose of this review was to understand how increased nuchal translucency values and congenital heart defects are related and to identify which of these defects are more frequently associated with an increase in these values.

Prenatal Screening Characteristics of Edward’s and Patau’s Syndrome in the First Trimester at the National Hospital of Obstetrics and Gynecology

Edward and Patau syndromes are severe genetic abnormalities. The consequences of these syndromes are often fatal in the fetus and neonate. Prenatal screening for these syndromes is important for early detection of birth defects. 212 medical records of pregnant women with normal pregnancies were selected using convenience sampling. Selection of 34 cases of Edward or Patau pregnancy using a total sampling technique. We conducted a descriptive retrospective study to describe and compare various markers related to prenatal screening to establish the most appropriate diagnostic criteria. A history of spontaneous abortion is associated with an increased risk of subsequent pregnancies with Edward's or Patau's syndrome. The nuchal translucency value was mainly concentrated below 2 mm, lower than the values observed in Trisomy 18 and 13 cases, predominantly in the 2-3 mm range. A threshold of 2.5 mm for nuchal translucency measurement had the highest detection rate for Edwards and Patau syndromes, and abnormal fetal heart rate was most commonly observed in trisomy cases on ultrasound examination. The MoM fβ-hCG concentration in the Edwards and Patau groups was predominantly concentrated in the low range (≤1), while the normal group showed a higher concentration in the range of 1-3. The MoM PAPP-A concentration in the normal group was commonly found in the range of 0.5-1, which was higher compared to the trisomy group.&#x0D; &#x0D; &#x0D; &#x0D;

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.

Erken Gebelikte Vajinal Kanamanın İlk Trimester Tarama Testi, Uterin Arter Doppler İndeksleri ve Perinatal Sonuçlara Etkisi

Aim: We aimed to prospectively investigate the effect of first trimester vaginal bleeding on first trimester screening test, uterine artery (UtA) Doppler results and perinatal outcomes. Material and Methods: Fifty cases that presented with vaginal bleeding in the first trimester between 2019 and 2020 constituted the early vaginal bleeding (abortus imminens-threatened abortion) group and fifty cases without a history of vaginal bleeding in pregnancy constituted the control group. Demographic datas were noted at the first visit. Both groups were followed up until birth. First trimester screening test (double screening test) between 11-14 weeks and UtA Doppler examination between 20-24 weeks of gestation was performed. Perinatal outcomes and values of nuchal translucency (NT), free β human chorionic gonadotropin (f β-hCG), pregnancy-associated plasma protein A (PAPP-A), and UtA Doppler were compared between the two groups. Results: There was no statistically significant difference was found between the two groups in terms of NT and PAPP-A among the first trimester screening test results (p=0.741 and p=0.937, respectively). In the group with threatened miscarriage, f β-hCG value was numerically higher, but there was no statistically significant difference (1.24±0.59 vs. 1.1±0.93, p=0.057). In the Doppler examination of the UtA, there was no statistically significant difference between the groups in terms of systolic/diastolic ratio, pulsatility index, resistive index and the presence of a notch (p=0.713, p=0.528, p=424, p=0.538, respectively). Perinatal complication rate was statistically significantly higher in the study group (p=0.013; Odds Ratio:3.2, 95% CI 1.2-8.3). Conclusion: Contrary to some different studies, we believe that first trimester screening test parameters or uterine artery Doppler flow indices do not have a place in predicting perinatal outcomes of pregnant women with a history of vaginal bleeding in the first trimester. In addition, early vaginal bleeding does not significantly affect screening parameters. Perinatal complication rate was found to be statistically significantly higher in the group with a history of threatened miscarriage.

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.

The Association between Intertwin Difference in First Trimester Crown-Rump Length, Nuchal Translucency, and Birth Weight Discordance in Twin Pregnancies: A Retrospective Cohort Study.

Discordant birth weight in twins is linked to poor outcomes and predicting this discrepancy may lead to enhanced screening and surveillance. Our purpose was to quantify the relationship between intertwin nuchal translucency (NT) and crown-rump length (CRL) discordance with birth weight discrepancies ≥ 20%. We conducted a retrospective cohort study of 887 live twin births delivering at a Canadian tertiary care center over a 7-year period who opted for integrated prenatal screening. Categorical data are presented as numbers and percentages, and continuous data are expressed as means and standard deviations. Chi-square tests, Fisher's Exact tests, or T-test were performed as appropriate. We then used published data and receiver operating curves to determine the optimal thresholds for predicting birth weight discordance based on first trimester intertwin NT differences. These values were used in multivariate logistic regression models accounting for known confounders. Roughly 16% of twin pairs exhibited ≥ 20% difference in birth weight. Twin pairs with a CRL discordance greater than 10% have nearly a 4 times greater likelihood of having a birth weight discordance greater than 20% (OR 3.71, CI 2.24-6.14) while controlling for chorionicity, maternal age, gestational age at delivery, maternal body mass index (BMI), and parity. In these models, intertwin NT discordance ≥ 20% (OR 1.16, CI 0.77-1.77) and NT discordance ≥ 14% (OR 1.08, CI 0.73-1.60) were not statistically significant predictors of twin birth weight differences. However, when evaluating the effect of the larger intertwin NT value corresponding to the 95th percentile, an NT difference ≥ 0.9 mm was predictive of birth weight discordance ≥ 20% (OR 2.53, CI 1.21-5.29). Although intertwin CRL and NT discordance measured via ultrasound between 11-14 weeks gestation are related to birth weight discordance, there is uncertainty as to whether twin birth weight differences are related to adverse pregnancy outcomes in this population.

Analysis of the Effectiveness of First Trimester Nucal Translucence, Free Beta-Human Chorionic Gonadotropin, and Pregnancy-Related Plasma Protein-A in Prediction of Pregnancy Complications

In this study, we aimed to investigate whether there was an association between fetal nuchal translucency (NT) and the serum markers plasma protein-A (PAPP-A) and free beta-human chorionic gonadotropin (β-hCG) measured by the first-trimester screening test, as well as birth weight and hypertension. 454 pregnant women who had undergone the first-trimester screening test for Down syndrome were included in the study. All measurements and values of NT, PAPP-A and β-hCG levels were performed between gestational weeks 11-14. Values of PAPP-A and β-hCG converted to multiples of the corrected median (MoM) were obtained using the PRISCA software package. Regarding the prediction of SGA infants, when the PAPP-A value &lt; was 0.99MoM as a threshold, and when the free β-hCG value &lt; was 0.69 MoM, SGA cases could be detected with a sensitivity of 83% and a specificity of 71.9%. Regarding the prediction of hypertension, at a threshold PAPP-A value of

Role of first trimester screening test in predicting the perinatal outcomes in low risk term pregnancies

Objective: This study aims to investigate the relationship between the nuchal translucency (NT) values measured in the first trimester and the well-being of the newborn. Methods: The study was planned as a retrospective cross-sectional study and was conducted between January 2018 and January 2020. A total of 2394 patients who had a combined test and delivered at our university hospital were included in the study. The demographic data of the pregnant women were recorded. NT MoM values, PAPP-A and β-hCG MoM values, birth weight, gender, need for neonatal intensive care (NICU), and Apgar scores were evaluated. Results: It was found that NT (MoM) values were similar among the SGA, AGA, and LGA groups (p=0.159). PAPP-A (MoM) values were similar in the SGA group compared to AGA and LGA infant groups (p=0.947). It was also found that β-hCG (MoM) values were similar in the AGA group compared to SGA and the LGA infant groups (p=0.694). When compared with those with NICU and non-NICU, the NT, PAPP-A, β-hCG, and birth weight values were again not found to be statistically significant (p&gt;0.05). The NT, PAPP-A, β-hCG, and male gender factors were evaluated in the Binary Logistic Regression Analysis, in which being an SGA baby was considered as a risk. It was found that a 1 mm increase in NT values increased the risk of having an SGA baby 2.63 times at a statistically significant level (OR=2.636, p=0.009, 95% CI: 1.277–5.440). PAPP-A, β-hCG levels, and having a male gender were not related to the risk of having an SGA baby. Furthermore, NT, PAPP-A, β-hCG levels, and having a male gender were not associated with the risk of NICU hospitalization. Conclusion: In conclusion, we could not predict the birth weight with increased NT MoM values that were detected in the first trimester combined test in this study; however, we found that the risk of having an SGA fetus increases with a weak rise in NT value.

What are the predominant parameters for Down syndrome risk estimation in first-trimester screening: a data mining study

Abstract Objectives This study aimed to evaluate the effect size of each parameter used in the first trimester Down syndrome (DS) risk analyses by using multiple regression analysis techniques. Methods This data mining study included data of 44,260 pregnant women screened at the Acibadem Labmed laboratories from 2010 to 2019. In this study, risk was calculated using the PRISCA software on the basis of nuchal translucency (NT), crown-rump length measurement, in vitro fertilization application, diabetes mellitus, Down syndrome story, smoking, maternal age, and the level of maternal serum biochemistry markers including pregnancy-associated plasma protein-A (PAPP-A) and free beta-human chorionic gonadotropin (hCGβ). Results Forty-four thousand two hundred sixty risk analysis patients result data were re-investigate, and 851 (1.93%) risk analysis results were found as positive. PAPP-A 747 (CI%, 476–1,170) times, NT value 512 (CI%, 343–764) times, DS story 21 times (CI%, 6.7–63.2) and hCGβ value 7.01 (CI%, 6.31–7.79) times affect the combined first-trimester risk analysis results. Conclusions We have suggested that those accurate PAPP-A levels and NT levels evaluation are the most critical point of combined risk analysis and that the risk of free hCGβ levels after PAPP-A is essential as a biochemical test.

Комбінований пренатальний скринінг І триместру вагітності як прогностичний маркер розвитку «великих акушерських синдромів»

Purpose - to conduct an analysis of the combined prenatal screening of the trimester I of pregnancy in women who had complications from the group of great obstetric syndromes. Materials and methods. A retrospective statistical analysis of the combined prenatal screening of the trimester I was carried out. Of the 239 pregnant women (Group I - main) who had complications from the group of great obstetric syndromes, according to the data of the pregnancy monitoring exchange cards, combined prenatal screening of the trimester I was carried out in 65.3% of pregnant women, which amounted to 156 pregnant women who were divided into three subgroups: Ia (n=74) pregnant women with severe preeclampsia, Ib (n=40) pregnant women with placental insufficiency, clinically verified fetal growth retardation; Ic (n=42) of pregnant women with spontaneous premature birth in the gestation period of 22-36 weeks. The control group (CG) was 56 practically healthy pregnant women with a healthy reproductive history and an uncomplicated course of this pregnancy. Statistical processing of the research results was carried out using standard Microsoft Excel 5.0 and Statistica 6.0 programs. Results. In the Group I, the average term of trimester I screening was 12 weeks 3±4 days, in the CG - 12 weeks 1±3 days, the difference in the gestational term of the trimester I combined screening was statistically insignificant. The lowest level of PAPP-A was determined in subgroups Ia and subgroup Ic. In the Group I, the level of PAPP-A was on average 2.16 (1.35-3.24) IU/l and 0.836 (0.571-1.14) MoM, and in CG - 2.62 (1.82-4, 12) MO/l and 1.16 (0.786-1.7) MoM. According to the relative number of patients with a level of PAPP-A &lt;0.5 MoM, no significant differences were found between the Group I and CG, but in subgroup Ib the percent of such patients was the highest, which is significantly more than in CG. More significant differences were found at the level of PAPP-A &lt;0.3 MoM: in Group I there were 11 (7.05%) patients with a level of PAPP-A &lt;0.3 MoM, in CG - 1 (1.78%). The number of patients with a level of PAPP-A &gt;1.5 MoM, on the contrary, turned out to be the largest in CG - 15 (26.8%) compared to 23 (14.7%) in the Group I and with subgroup Ia - 9 (12.2%). The level of β-hCG in the studied groups was not statistically significant. There was no statistically significant difference in the thickness of the nuchal translucency, but in the Group I this indicator was slightly higher. The largest nuchal translucency value was in subgroup 1b. There were no statistically significant differences in the frequency of the absence of imaging of the nasal bone during ultrasound screening. According to the frequency of detection of reverse blood flow in the ductus venosus, it was not possible to detect statistically significant differences. This sign occurred only in 3 (1.92%) patients of the Group 1 (1 patient in each subgroup) and in 1 (1.78%) patient of CG. Conclusions. In patients who later developed pregnancy complications belonging to the group of great obstetric syndromes, in the trimester I, a number of prenatal screening indicators differ from those in patients with a physiological course of pregnancy. When conducting a standard set of prenatal diagnostics, the most significant differences were found in the level of PAPP-A (MoM). The results obtained during the analysis of PAPP-A are promising from the point of view of using this parameter as an element of the prognostic model of great obstetric syndromes for the successful course of pregnancy and the birth of a child with a normal body weight. The research was carried out in accordance with the principles of the Declaration of Helsinki. The research protocol was approved by the Local Ethics Committee of the institution mentioned in the work. Women’s informed consent was obtained for the study. No conflict of interests was declared by the author.

Value of Nuchal Translucency in Detection of Chromosomal Aberration in Vietnam Population

Objective: To examine the sensitivity and specificity of different thresholds of nuchal translucency in diagnosis of chromosomal defects. Study Design: This is a longitudinal study of pregnant women have first trimester screening and ultrasound in center of diagnostic antenatal of national hospital of obstetrics and gynecology. A follow-up was made to identify, in all singleton pregnancies in both group of which fetal karyotyping was made and group of normal fetuses. The threshold for nuchal translucency was divided in to above the 95th percentile, the 99th percentile, the 3.0mm and 2.5 MoM of nuchal translucency. The sensitivity and specificity ware calculated in order to diagnosis the chromosomal abbreviation. Results: The research identified 2645 fetuses, 743 amniocentesis (28%). There is 32.4% fetus has NT ≥ the 95th percentile, 28.6% ≥ 2.5mm percentile, 22.3% ≥ 3.0mm, 16.6% above 2.5 MoM. The fetal karyotype was abnormal in 157 (5.8%) pregnancies. The popular conditions were found including trisomy 21(52.2%). Then structural rearrangements occupied 31.2%. Other chromosomes like 13,18,21 occupied 12.7%. The abnormal of sex chromosome was smallest proportion with only 3.8%. At the 95th percentile of nuchal translucency has the highest sensitivity in detection of chromosomal defects (99.4%) but the threshold 2.5mm has a better detection rate (20.4%). The cut off 3.0mm has a better positive prediction rate (22.3%) but could detect less defects (only 132/157 abbreviation). The threshold 2.5xMoM had the highest specificity (86.4%) but lowest sensitivity (only 65%). Conclusion: In fetuses with increased nuchal translucency, more than a half of the chromosomally abnormal group is affected by defects other than trisomy 21 (52.2%). Using threshold 2.5mm helps detect more 23 chromosomal defects in comparison with the threshold 3.0mm and it had the highest average of sensitivity and specificity (87.25%).

Prenatal Diagnosis Nomograms: A Novel Tool to Predict Fetal Chromosomal Abnormalities in High-Risk Patients

BackgroundAmniocentesis is an invasive prenatal diagnostic technique that can provide genetic information of fetus for pregnant women and give them a choice. A straightforward predictive tool can show pregnant women the need for amniocentesis prior to the procedure.MethodsThe information of patients who underwent amniocentesis from 2014 to 2019 at the Obstetrics Clinic, Shengjing Hospital of China Medical University was extracted, and important independent prognostic factors were determined by univariate and multivariate logistic regression analysis to construct nomograms with total abnormalities (TA) and chromosome number abnormalities (CNA).ResultsA total of 19,683 patients undergoing amniocentesis were included in this study. Among 1761 patients with abnormal results, 917 had abnormal chromosome numbers, 439 had abnormal chromosome structures, and 405 had polymorphic results. Nomograms of TA and CNA were created using data such as age, nuchal translucency value, ultrasound results, Oscar’s testing and/or non-invasive prenatal testing abnormalities, parental chromosomes, and information whether they were twins. The nomogram has good predictive power and clinical practicality through the analysis of area under curve and decision curve analysis. Internal verification was performed for nomograms of TA and CNA, suggesting that the nomogram’s predicted probability and actual probability of the two are consistent.ConclusionThe nomogram constructed is a good predictor of TA and CNA, which can be used in clinical practice to screen high-risk patients of chromosomal abnormalities.

A prospective cohort study on association of first-trimester serum biomarkers and risk of isolated foetal congenital heart defects

Background This study aims to assess the association between first-trimester biomarkers in foetuses with a non-chromosomal congenital heart defect (CHD) and compares it to the matched healthy foetuses. Method Nuchal Translucency (NT), Pregnancy-Associated Plasma Protein-A (PAPP-A) and free beta-human Chorionic Gonadotropin (β-hCG) were evaluated in 56 isolated foetal heart defects and 224 controls. The CHDs were further divided into Critical CHD (C-CHD) and Non-critical CHD (N-CHD) groups. Results The multiple of the median (MoM) values for PAPP-A were significantly lower (0.87 MoM vs. 0.92 MoM; p = 0.008) in the total CHD group than in controls. The median of foetal NT values was significantly higher in the total CHDs than in controls (1.16 MoM vs. 1.03 MoM; p < 0.001), especially for C-CHDs (1.28 MoM; P < 0.001). There were no significant differences in terms of PAPP-A (p = 0.779) and foetal NT values (p = 0.760) between the N-CHDs and control groups. There were no significant differences within the groups based on free β-hCG, except for a lower β-hCG in C-CHD group than in the control group (0.95 MoM vs. 1.11 MoM; p = 0.022). Conclusion Lower PAPP-A levels and increased NT thickness were associated with an increased risk of CHDs, especially the critical type of CHDs. Clinical significance Maternal serum PAPP-A, measured in the first trimester, is significantly lower in CHD. Foetal NT is significantly thicker in foetuses with CHD, especially those with critical CHD. Maternal serum β-hCG was only decreased among critical CHD group.

Karyotype analysis of amniotic fluid cells and report of chromosomal abnormalities in 15,401 cases of Iranian women

The aim of present study was to assess the karyotypes of amniotic fluid cells and find the frequency of chromosomal abnormalities and their significance in clinical setting. A total of 15,401 pregnant women were assessed from March 2016 to May 2019, and 14,968 amniotic fluid samples were successfully cultured. These fetuses were grouped according to different indications including advanced maternal age, abnormal nuchal translucency (NT) values, positive first/second trimester screening results, high risk NIPT results, very low PAPP-A and free β-hCG multiples of the normal median (MoM) results, abnormal ultrasound findings or previous history of chromosomal abnormalities. Results indicated the presence of normal karyotype in 90.2% (13,497/14,968) of fetuses. Totally, 46.4% (6945/14,968) of fetuses were 46,XX and 43.8% (6552/14,968) had 46,XY chromosome pattern. A total of 1077 abnormal karyotypes were found among 14,968 fetuses, thus the rate of abnormal fetuses was calculated to be 7.2% (1072/14,968). Meanwhile, a total of 394 cases (2.8%) had a normal polymorphism in their karyotype. In other words, abnormal karyotypes were detected in one of 13.9 cases of patients underwent amniocentesis. Down syndrome, Edward’s syndrome, abnormal mosaicisms and Patau’s syndrome were detected in 4.4% (659/14,968), 0.57% (85/14,968), 0.49% (74/14,968) and 0.24% (36/14,968) of cases, respectively. Sex chromosomal abnormalities including Klinefelter syndrome, Turner syndrome and 47,XXX karyotype were detected in 64 cases (0.43%). In this article, the rates of chromosomal abnormalities are compared between different groups of patients based on the advanced maternal age, abnormal NT values, very low PAPP-A and free β-hCG MoMs results, and positive FTS results. The current investigation provides insight into the most appropriate indications for amniocentesis in Iran.

A Chinese multicenter retrospective study of isolated increased nuchal translucency associated chromosome anomaly and prenatal diagnostic suggestions

Extensive researches involving fetuses with multiple ultrasound anomalies have been conducted over the years, but only few were focused on the isolated increased nuchal translucency (NT). On top of that, these limited number of researches were all designed as single-arm studies and the control group was missing. In this study, we conducted a multicenter, retrospective study using amniotic fluid samples collected from 1197 pregnant women having fetuses with isolated increased NT (INT group) or normal NT values (NNT group). Copy number variation sequencing (CNV-seq) was performed to determine their chromosome status and pathogenic variations were validated using SNP array. Overall, 59 chromosome aneuploidies, 34 pathogenic CNVs and 23 copy number variants of unknown significance (VOUS CNVs) were discovered. the INT group had a significantly higher proportion of aneuploidy (19.44%) and pathogenic CNV (8.33%) than the control group (3.49% and 2.30% respectively), and 88.89% of the pathogenic CNVs were related to heart defects. Additionally, more male fetuses were presented in the INT group (68.51%), but they did not have a higher risk (Relative Risk = 1.03) of carrying pathogenic chromosome variations than female fetuses. Our results demonstrated that fetuses with isolated increased NT had a distinct pattern of chromosome abnormality and majority of detected pathogenic CNVs could be linked to the congenital heart disease. Furthermore, because a considerable proportion of pathogenic CNVs were detected, we strongly recommend to perform a joint test of karyotyping and CNV analysis in prenatal diagnosis for fetuses with isolated increased NT in order to decrease the incident of missed diagnosis.

Association of first trimester fetal heart rate and nuchal translucency with preterm birth

Objective To evaluate whether first trimester fetal heart rate (FHR) and nuchal translucency (NT) associate with preterm birth (PTB). Methods This was a comparative case–control study of 518 normal pregnancies with no history of PTB, of which 272 delivered at term (TB) and 246 progressed to spontaneous PTB prior to 37, 34, 32, and 28 weeks. Fetal heart rate (FHR) and NT values at the first-trimester scan were compared by means of univariable (Mann–Whitney) and multivariable logistic regression analysis considering hourglass membranes (HM) as the most severe PTB subgroup. Finally, severity trends for both parameters were investigated using correlations with gestational age (GA) at delivery and Kruskal–Walls tests. Results Regardless of GA at delivery, pregnancies affected with PTB showed higher FHR and thicker NT at the first trimester scan. The association was confirmed by the multivariable analysis and the severity trends, which paired the highest FHR and NT values with the most severe cases of PTB (p < .001) (p < .0001). Conclusion Fetuses with subsequent late, early and very early PTB show higher values of NT and FHR at the first-trimester scan.