Search

Aim: This study aimed to assess the utility of ultrasound screening for pregnancies with positive noninvasive prenatal testing results for trisomy 21, trisomy 18, and trisomy 13. Methods: We performed a retrospective analysis of positive noninvasive prenatal testing results and first‐trimester ultrasound screening at our department between 2013 and 2019. Invasive genetic testing was performed if the patient had positive noninvasive prenatal testing results. Fetal ultrasound and cytogenetic data were collected. Noninvasive prenatal testing was performed in the women for advanced maternal age, nuchal translucency thickness, or history of abnormality in the previous child or relative. Results: Forty‐one pregnant women had positive noninvasive prenatal testing results for trisomy 21, trisomy 18, and trisomy 13. Twenty‐three women had positive results for trisomy 21, 13 had positive results for trisomy 18, and 5 had positive results for trisomy 13 at 11 to 14 weeks of gestation. The positive predictive value of noninvasive prenatal testing was 100% for trisomy 21, 84.6% for trisomy 18, and 100% for trisomy 13. The positive predictive value of positive noninvasive prenatal testing results and fetal morphological abnormalities was 100% for trisomy 21, trisomy 18, and trisomy 13. Conclusion: Combining an ultrasound examination with noninvasive prenatal testing resulted in a higher positive predictive value for trisomy 18. Normal ultrasound examination results can help alleviate stress caused by false‐positive noninvasive prenatal testing results. In contrast, the positive predictive value and negative predictive value for trisomy 21 were not altered by adding an ultrasound examination to noninvasive prenatal testing. [ABSTRACT FROM AUTHOR]

Aim: To investigate the epidemiology of chromosomal abnormalities (CA) in fetuses of all pregnancies based on a provincial‐wide birth defects‐monitoring system, which could provide scientific basis for making relatively policy and research. Methods: Chromosomal abnormalities cases were collected from all hospitals in Hunan Province, China, between 2016 and 2019. The prevalence of CAs was calculated to examine associations among infant sex, maternal age and region. The rates of prenatal diagnosis and termination of pregnancy (TOP) involving CA or associated anomalies were calculated as rates or proportions. Results: From 2016 to 2019, a total of 2 883 890 perinatal infants (28 weeks of gestation to postpartum 7 days) underwent prenatal screening and diagnostic tests, and 3181 fetuses were diagnosed as CA, with the prevalence of 11.03/10 000. The average prevalence of CAs was higher for male than female fetuses (11.33/10 000 vs 10.06/10 000) (OR = 1.13, 95% CI: 1.05–1.21), which was higher in urban areas than rural areas (23.03/10 000 vs 7.13/10 000) (OR = 3.23, 95% CI: 3.02–3.47), and the prevalence increased linearly with maternal age (Xtrend2 = 1821.844, P = 0.000). Among the fetuses with CAs, 3097 (97.36%) were diagnosed prenatally, and 3046 (98.35%) underwent TOP. The majority of CA were numerical abnormalities (90.18%). The main types of numerical autosomal abnormalities were trisomy 21 (6.69/10 000, 59.57%), trisomy 18 (1.13/10 000, 10.04%) and trisomy 13 (0.21/10 000, 1.88%). The main types of numerical gonosomal abnormalities were Klinefelter syndrome (0.68/10 000, 6.02%), Turner syndrome (0.49/10 000, 4.39%), Triple X syndrome (0.26/10 000, 2.29%) and 47,XYY syndrome (0.21/10 000, 1.91%). The three associated anomalies with the highest proportions were congenital heart defects (CHD) (41.06%), cleft palate or/and cleft lip (10.89%) and congenital talipes equinovarus (8.94%). Conclusion: The prevalence of CA was lower than that reported. Chromosome detection should be further promoted including test contest and coverage, especially for urban areas, older mothers and fetuses with CHD, cleft palate or/and cleft lip or congenital talipes equinovarus. [ABSTRACT FROM AUTHOR]

Abstract: Aim: Detection of cell‐free fetal DNA in maternal blood is a type of noninvasive prenatal diagnosis test (NIPT), which has already been known for some time but has not yet been introduced in most of public hospitals in Spain. How the implementation of cell‐free fetal DNA (cffDNA) in a contingent protocol has influenced the aneuploidy screening in our hospital is described. Methods: Two cohorts of patients with positive combined screening were compared: the first one (years 2012–2013, 5747 patients) from a period of time in which the protocol valid until March 2016 – that included the use of invasive procedures – was applied; and the second one in which the current protocol – that included NIPT versus invasive procedures – was applied (first 7 months after protocol implementation, 898 patients). Results: Comparison of both periods resulted in a 60.5% reduction of invasive procedures (P < 0,001) preserving the same chromosomopathy detection rate. The ratio of positive invasive procedures–indicated invasive procedures was improved by 15% in the first period to 50% in the second period (P = 0.01). Conclusion: NIPT introduction has caused a significant reduction of 60.5% of IP in high chromosomopathy risk patients after combined screening without modifying detection rate. [ABSTRACT FROM AUTHOR]

Abstract: Aim: Methylated DNA immunoprecipitation real‐time quantitative polymerase chain reaction (MeDIP‐real‐time qPCR) has been introduced as noninvasive prenatal test that has shown absolute detection rate in the screening of Down syndrome. Herein, we aimed to propose a novel modification of MeDIP‐qPCR and assess its potential to alleviate the overall cost of the test, being used in very early weeks of pregnancy, and develop it to a noninvasive prenatal diagnosis biosensor in future researches. Methods: Cell‐free fetal DNA (cffDNA) isolated from 60 pregnant women, including 29 normal and 31 trisomy 21 pregnancies, were analyzed using proposed MeDIP protocol. Enriched methylated DNA sequences were amplified through real‐time qPCR using eight fetal‐specific primer pairs. The status of samples was determined through the calculation of D‐value with the cutoff point of zero. Results: The sensitivity and specificity of the MeDIP protocols using nanoparticles were 100% and 100%, respectively. Conclusion: Remarkable decrease in the price of MeDIP test per each patient would be a reasonable factor to confirm it on larger sample size. Moreover, the high detection rate of screening and the availability of the required instruments around the world make satisfactory reasons to be tested in earlier weeks of pregnancy, thanks to the high sensitivity of gold shell nanoparticles. [ABSTRACT FROM AUTHOR]

Aim The aim of this study was to document the clinical and cytogenetic results of a large series of amniocentesis ( AS) cases from Turkey. Material and Methods Second-trimester amniocentesis cases performed in Suleymaniye Maternity Hospital for Research and Training between January 2007 and December 2011 were included. Results During this period, 6124 AS were performed. Indications were increased risk in maternal serum screening ( MSS) (56%), advanced maternal age (29%) and pathologic ultrasound finding (11.5%). Most frequent MSS abnormality was abnormal triple test result (58%). Overall culture success rate was 98.8%. Chromosomal abnormality was detected in 215 (3.6%) of the 6052 cytogenetic results (74.9% numerical, 25.1% structural). Most frequent numerical chromosomal abnormality was trisomy 21 (61.9%). Clinically insignificant polymorphisms were the most frequent structural changes ( n = 571). Most frequent polymorphism was increase in heterochromatin region in the 1st chromosome ( n = 158). Advanced maternal age had a positive predictive value of 5.2%. Among the MSS tests, the combined test had the highest positive predictive value (5.2%). Conclusions In our study, abnormal MSS (and among these, abnormal triple test result) was the most frequent indication for amniocentesis. Our overall culture success rate was 98.8%. Frequency of major chromosomal abnormality was 3.2% and trisomy 21 was the most frequent abnormality. [ABSTRACT FROM AUTHOR]

Aim Second-trimester maternal serum screening ( MSS) is the predominant form of prenatal screening in Japan. We hypothesize that patient education and physician knowledge of Down syndrome ( DS) screening are insufficient to provide adequate information regarding prenatal screening in Japan. Material and Methods In-person or telephone interviews with medical personnel were conducted at 25 medical facilities utilizing Afp4 ( Esoterix Genetic Laboratories, LLC, a wholly-owned subsidiary of Laboratory Corporation of America Holdings) second trimester screening. We explored how medical facilities provided information about the MSS process to pregnant women. Results Before prenatal testing, 60% of medical facilities spent an average of less than 5 min per patient explaining the MSS process. The option of amniocentesis for chromosomal aneuploidy was explained at nearly all facilities, but only 60% explained the risk of amniocentesis. Ultrasound examination for open neural tube defects was explained only at half the facilities. Only five of 25 (20%) medical practitioners explained the possibility of having congenital disorders fetus. Conclusion This study revealed that most obstetricians in Japan do not provide their patients with sufficient information about MSS. [ABSTRACT FROM AUTHOR]

Aim To establish reference values for the nuchal translucency ( NT) thickness in Japanese fetuses. Material and Methods Ultrasonographic measurements of the crown-rump length ( CRL) and NT were performed from 11 to 13 + 6 weeks of gestation in consecutive Japanese fetuses examined during prenatal visits between February 2011 and January 2012. The median, 5th and 95th percentiles of the NT thickness with 5 mm intervals of the CRL were confirmed. Results A total of 970 cases were enrolled in the study. The median NT thickness for a CRL between 45 and 80 mm ranged from 1.2 mm to 1.9 mm, and the 95th percentile of these values ranged from 2.1 mm to 3.2 mm, respectively. Conclusion The reference values for the NT thickness in Japanese fetuses were determined. These values should be useful for fetal biometry, morphological assessment and first trimester screening for chromosomal abnormalities in Japan. [ABSTRACT FROM AUTHOR]

Aims: The purpose of this study was to define the most suitable cut-off point for fetal nuchal translucency thickness in a screening program for aneuploidy and trisomy 21 in the south of Vietnam. Material & Methods: Two thousand and five hundred cases of singleton pregnancies were followed prospectively from the first trimester to the delivery. The rate of aneuploidy was calculated by seeking a relationship to increased fetal nuchal translucency thickness then calculating the sensitivity and specificity of different cut-off points in thickness measurement to find the most suitable point for screening. Results: The prevalence of fetal abnormality was 1.5% (95% CI 1.1-2.1), and 1.2% (95% CI 0.8-1.7) of aneuploidy cases found and the commonest was trisomy 21. A cut-off point at 2.4 mm showed the highest level of sensitivity and specificity for the detection of aneuploidy (65.5 and 95.7%) and trisomy 21 (75.0 and 95.1%), with a false-positive rate of 4.3 and 4.9%, respectively. Conclusion: Using a cut-off point of nuchal translucency at 2.4 mm has potential for aneuploidy and trisomy 21 screening in the south of Vietnam. [ABSTRACT FROM AUTHOR]

To establish the normal range of frontonasal angle (FNA) at 11+0 to 13+6 weeks of gestation and the feasibility of FNA measurement, evaluate the correlation of such a parameter with crown-rump length (CRL) and nuchal translucency (NT) and assess the potential of FNA in improving the performance of first trimester sonographic and biochemical screening for trisomy 21. We conducted a prospective study in 400 singleton uncomplicated pregnancies. FNA was obtained during maternal screening for trisomy 21. NT thickness and FNA were measured by 2D ultrasound in a midsagittal plane of the fetal profile. FNA was measured between the line along the upper surface of the frontal bone and the superior edge of the nasal profile until the echogenic tip. Determination of maternal serum free β-human chorionic gonadotropin (β-hCG) and pregnancy-associated plasma protein-A (PAPP-A) was committed and concomitantly evaluated by blood sample. Patient-specific risk was calculated using Fetal Medicine Foundation software (Astraia Software GMBH, Munich, Germany). Mean FNA increased with CRL from 119.80° at CRL 45 mm to 125.85° at CRL 84 mm. A significant association between the FNA and NT thickness was detected, while no significant association was found between FNA and serum PAPP-A or β-hCG. At 11+0 to 13+6 weeks FNA increases with fetal CRL and NT thickness. Such an increase is not related to serum biochemistry. [ABSTRACT FROM AUTHOR]

Aim: The present study aims to assign the reference values for nasal bone length (NBL) screened at 11-14 weeks of pregnancy in the Turkish population, determining whether the NBLs specified for Caucasians can be validated for Turkish people. Materials & Methods: The values of NBL were investigated in a total of 415 singleton fetuses that had Turkish parents and normal neonatal outcome. Sonographic measurements of NBL were done on a transabdominal midsagittal plane at 11-14 weeks' gestation. Regression analysis was used to assess the relationship between NBL and crown-rump length (CRL). Reference values, including the 5 [ABSTRACT FROM AUTHOR]

Aim: To determine the knowledge and attitudes of pregnant Thai women towards Down syndrome screening. Methods: A total of 714 pregnant women were recruited attending antenatal clinics in Songklanagarind Hospital from February through June 2007. Their knowledge and attitudes concerning Down syndrome screening were evaluated through self-administered questionnaires. The data were analyzed using SPSS version 12.0. Results: The mean age of the respondents was 29.9 ± 6.4 years. Regarding their knowledge of Down syndrome and its screening test, the mean scores were 43.6% and 20.6%, respectively. Most pregnant women (77.6%) had a positive attitude to Down syndrome screening. In addition, 92.2% of cases would accept a Down syndrome screening test. Multivariate logistic regression analysis showed that levels of education and types of health insurance were factors associated with knowledge of Down syndrome screening. Maternal age was the only factor affecting attitudes. Conclusion: Most pregnant women had inadequate knowledge of Down syndrome and the screening test. However, they did have a positive attitude and were willing to accept the test. Providing knowledge on Down syndrome and the screening test for pregnant women should be implemented in our antenatal care services and community. [ABSTRACT FROM AUTHOR]

Objective: The purpose of the present study was to build a database of reference ranges of fetal nasal bone length (NBL) in a Chinese population. The accuracy rate of detecting Down syndrome was also analyzed using fetal NBL as a marker. Methods: The control group of fetuses included 342 normal singleton pregnancies with no chromosomal or congenital anomalies. The present study was a cross-section study and the control group was used to construct percentile values of NBL from 13 to 29 gestational weeks of age. Two-dimensional ultrasonography was used for the nasal bone studies. Measurements of NBL were collected and each fetus contributed a single value to the reference sample. During the study period, 14 fetuses with Down syndrome were examined. Measurement of fetal NBL was made during amniocentesis, with gestational age ranging from 13 to 19 weeks. Results: From 342 normal fetuses with gestational age ranging from 13 to 29 weeks, reference ranges of NBL were constructed. The reference ranges were constructed from the 100(1 − p)% reference range: , where Ŷ = 25 − exp(3.58 − 0.044 × t + 0.0006 × t2), with Ŷ being the fitted mean of regression model and t being gestational age (weeks). Using fetal NBL, the regression model was Pr(Down syndrome) = exp( W)/[1 + exp( W)], where W = 0.62–4.80 × NBL (multiples of the median) in predicting Down syndrome. Fetal NBL was found to have a sensitivity and specificity of 0.78 and 0.78, respectively, in predicting Down syndrome in the second trimester of pregnancy. Conclusions: Fetal NBL measurement can provide a simple and useful algorithm to predict Down syndrome during the second trimester of pregnancy. [ABSTRACT FROM AUTHOR]

A 32-year-old woman at 17 weeks of gestation had a high possibility (1:82) of having a child with Down syndrome. Fetal chromosome according to amniocentesis revealed 46,XX,del(7)(q11.23q21.2). The fetus' chromosomal defect was not inherent because the chromosome analysis of the parents did not have any abnormal findings. We were regularly monitoring the pregnant woman by routine prenatal schedule and she had a normal spontaneous delivery. The baby showed a typical facial malformation, epicanthal fold, decreased muscle tone, and cardiac abnormalities. This is the first patient prenatally diagnosed with de novo 7q deletion by positive triple marker screening test. We consider the triple test, which is the most popular examination used to clarify the risk of chromosome abnormality in obstetrics, will be used not only for trisomy 21 and 18, but also for any other chromosome abnormalities. [ABSTRACT FROM AUTHOR]