Risk Of Fetal Chromosomal Abnormalities Research Articles

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.

Ultrasound signs of fetal chromosomal abnormalities at 11–14 weeks of pregnancy and its value in the era of modern genetic testing

A steady increase in average maternity age at the time of first childbirth lead to a higher risk of fetal chromosomal abnormalities. The Order No. 1130n of the Ministry of Health of the Russian Federation establish the screening protocol at 11–14 weeks of gestation with assessing the followed criteria of fetal chromosomal pathology: the nuchal translucency thickness, nasal bone measurement, ductus venosus pulsatility index, tricuspid regurgitation, and heart rate. The value of non-invasive prenatal testing (NIPT) in the early prenatal diagnosis of the most common chromosomal abnormalities, as the trisomies 21, 18, 13, and monosomy X is also increasing. Additionally, numerous other fetal karyotype abnormalities can also be suspected at 11–14 weeks of gestation by revealing a number of other ultrasound signs. The article presents the literature review on additional ultrasound signs of various, both more and less common, chromosomal abnormalities. Pathological signs, abnormalities of fetal anatomy and extrafetal structures in the first trimester, which could be used as additional ultrasound signs of chromosomal pathology of various organs and systems (central nervous system and head, heart and blood vessels, urinary system, abdominal organs, fetal skeleton, as well as the placenta, umbilical cord, amniotic membranes) are described in the article. Despite the use of NIPT, including its extended panels, there remains a need to use ultrasound to detect the signs of rarer, but no less significant chromosomal pathologies, such as triploidies, mosaic trisomies, rare autosomal trisomies, duplications, and deletions.

Association of chromosomal abnormalities with prenatal exposure to heavy metals: A nested case-control study in high-risk pregnant women in China

Prenatal exposure to heavy metals causes multiple hazards to fetal growth and development. Epidemiological studies on the association between heavy metals and fetal chromosomal abnormalities (CAs) are lacking. We conducted a nested case-control study in a cohort of high-risk pregnant women in China from September 2018 to June 2021. A total of 387 participants were diagnosed with fetal CAs in the case group and 699 were diagnosed with a normal karyotype in the control group. Amniotic fluid concentrations of 10 metals (barium, cobalt, antimony, manganese, ferrum, copper, selenium, strontium, vanadium, and chromium) were measured using inductively coupled plasma-mass spectrometry. We applied quantile g-computation and weighted quantile sum regression to assess the overall effect of metal mixtures and identify metals with significant weight. Logistic and Poisson regression analyses were used to estimate the effects of metals on CAs and CAs subtypes. Our results showed that the metal mixture concentrations were positively associated with the risk of fetal CAs. In adjusted logistic models, Sb was associated with fetal CAs (OR=1.15, 95% CI: 1.02–1.30), and revealed a linear dose-response relationship between Sb level and the risk of fetal CAs. Additionally, the exploratory analysis revealed that Sb levels were associated with Klinefelter syndrome (OR=1.452, 95% CI: 1.063–1.984) and Turner syndrome (OR=1.698; 95% CI,1.048–2.751). Our study revealed that metal mixtures are associated with a higher risk of fetal CAs and that this association may be driven primarily by Sb. Moreover, we provide a genetic perspective on the effects of heavy metals on sexual development in humans.

Can uterine artery pulsatility index predict fetal chromosomal abnormality in early pregnancy loss? A retrospective cohort study.

Early pregnancy loss (EPL) or spontaneous loss of an intrauterine pregnancy within the first trimester occurs commonly worldwide. It is useful to predict the possibility of fetal chromosomal abnormalities using other cheap and easily available markers. This study aimed to evaluate whether the uterine artery pulsatility index (UtA-PI) can predict fetal chromosomal abnormality in early pregnancy loss (EPL). This was a retrospective cohort study including 148 women who underwent dilation and curettage for missed abortion. The UtA-PI was measured and evaluated by transvaginal ultrasound. Abnormal UtA-PI was identified through the mean of left and right UA-PI ≥ 90th percentiles of the relevant values for the corresponding gestational age. Copy number variation sequencing (CNV-seq) was performed on EPL cases without maternal cell contamination. 107 (72.3%) cases were classified with normal UtA-PI, while 41 (27.7%) cases were classified with abnormal UtA-PI. The fetal chromosomal abnormality rate was significantly higher in cases with normal UtA-PI than in those with abnormal UtA-PI (67.3% vs 22.0%, P = 7.1 × 10-7). Compared to cases with abnormal UtA-PI, the risk of fetal chromosomal abnormalities in cases with normal UtA-PI increased with an odds ratio of 7.3 (95% confidence interval [CI]: 3.2‒17.0, P = 4 × 10-7). The predictive value of normal UtA-PI alone for fetal chromosomal abnormalities was shown to have an area under the curve of 0.67‒0.71 in our population. The UtA-PI seems to be lower and less likely to be elevated in EPL with fetal chromosomal abnormalities compared to those without aneuploidies. We suggest that UtA-PI should be examined in all EPL patients.

A Novel Paradigm for Non-Invasive Prenatal Genetic Screening: Trophoblast Retrieval and Isolation from the Cervix (TRIC).

As the prevalence of pregnancies with advanced maternal age increases, the risk of fetal chromosomal abnormalities is on the rise. Therefore, prenatal genetic screening and diagnosis have become essential elements in contemporary obstetrical care. Trophoblast retrieval and isolation from the cervix (TRIC) is a non-invasive procedure that can be utilized for prenatal genetic diagnosis. The method involves the isolation of fetal cells (extravillous trophoblasts) by transcervical sampling; along with its non-invasiveness, TRIC exhibits many other advantages such as its usefulness in early pregnancy at 5 weeks of gestation, and no interference by various fetal and maternal factors. Moreover, the trophoblast yields from TRIC can provide valuable information about obstetrical complications related to abnormal placentation even before clinical symptoms arise. The standardization of this clinical tool is still under investigation, and the upcoming advancements in TRIC are expected to meet the increasing need for a safe and accurate option for prenatal diagnosis.

First Trimester Screening Tests Pregnancy and Trisomy 13 Syndrome, Sex Chromosome Aneuploidy in Iran: A Cross-Sectional Study.

Trisomy 13 (T13) and sex chromosome aneuploidies (SCA) are the vital causes of congenital malformations. This study was performed to identify the T13 and SCA with screening tests in the first trimester of pregnancy. In this cross-sectional study, first-trimester combined screening was conducted on 2100 pregnant women referred to Narges Genetics Laboratory, Ahvaz, Iran. Evaluating the first trimester screening tests, including nuchal translucency (NT), crown-rump length (CRL) and pregnancy-associated plasma protein-A (PAPP-A), and free beta of human chorionic gonadotropin (fβhCG) was performed. For a definitive diagnosis of T13 and SCA syndrome, fetal karyotype was evaluated. The average NT and CRL in high-risk group for T13 were 5.96 mm and 61.7 mm respectively and in high-risk groups for SCA were 3.7 mm and 75.9 mm, respectively. Significant correlation was observed among NT, CRL and T13, SCA (P<0.05). The average serum fβhCG and PAAP-A levels in high-risk group for T13 were 0.42 and 0.31, respectively. Significant correlation was observed between decrease fβhCG, PAPP-A and T13 levels and increase fβhCG levels and SCA levels (P<0.05). No Significant correlation was observed between PAPP-A levels and SCA levels (P>0.05). Using special software and karyotype testing, the prenatal screening tests based on the maternal age and gestational age in the first trimester of pregnancy may determine the major risk of fetal chromosomal abnormalities.

Chromosomal Abnormality, fetal/neonatal Death and Socioeconomic Status: A Prospective Cohort Study.

To assess the risk gradient of chromosomal abnormalities and fetal or neonatal death across a socioeconomic spectrum of pregnant women. We used the data from the Korean Prenatal Diagnosis Study (KPDS), which included singleton pregnancies who were candidates for fetal aneuploidy screening enrolled from the Seoul Capital Area from December 2016 to April 2018. We analyzed chromosomal abnormalities which were diagnosed pre- or postnatally, and fetal or neonatal death. The highest level of education among the women and the average monthly household income were used as proxies for socioeconomic status. Among the 6,715 women, the majority of were 30-39 years old and university graduates, with a reported household income higher than the national median. Chromosomal abnormalities occurred in 45 women (6.7 per 1,000). Fetal or neonatal death occurred in 70 (11.3 per 1,000), excluding pregnancies affected by chromosomal abnormality diagnosis. The adjusted odds ratio for chromosomal abnormalities was higher when household income was < 4,484 USD per month. For fetal or neonatal death, the risk estimates for lower education and lower household income were generally positive but remained imprecise. We observed some evidence of an inverse association between the risk of fetal chromosomal abnormality and level of household income in a prospective cohort of pregnant women. Interventions to reduce socioeconomic disparities in perinatal health should focus on those with a low household income.

Assessment of Maternal Serum Biochemical Attributes and Fetal Ultrasound Scans in First-Trimester Low-Risk Noninvasive Prenatal-Tested Pregnant Women.

Introduction: The first trimester of pregnancy is marked by several important disrupting changes as a result of complex biological upshot of events required for the development of the fetus. These changes in the biological events result in changes in the maternal serum biomarkers that are associated with fetal growth. The aim of the present study was to evaluate the correlation between the maternal blood biochemical determinants such as pregnancy-associated plasma protein-A (PAPP-A) and alpha fetoprotein (AFP) with ultrasound scans during early pregnancy in the first trimester.Methods: The study included 139 women whose fetus was alive between 11±1 weeks of gestation. The risk of fetal chromosomal abnormalities at first trimester was analyzed by the VeriSeq NIPT Solution v2 platform (Illumina, San Diego, CA, USA) for noninvasive prenatal testing (NIPT) assay. The PAPP-A and AFP levels were evaluated by chemiluminescent immunoassays. The levels of PAPP-A and AFP were correlated with the fetal heart rate (HR), crown rump length (CRL), and nuchal translucency (NT) by Pearson’s correlation analysis.Results: The mean age of the participants was 28.35±3.87 years (minimum=21, maximum=35). The mean AFP and PAPP-A levels in the maternal plasma were 14.76±1.04 ng/mL and 4.37±0.86 mIU/ml respectively. The mean FHR, CRL, and NT were 138±7.62 bpm, 59±3.24 mm, and 2.3±0.61 mm respectively. PAPP-A and AFP significantly (p<0.05) correlated with fetal HR, CRL, and NT at 11±1 weeks of gestation. The mean ratio of AFP:PAPP-A in low-risk pregnancies was 3.37.Conclusions: The maternal serum biochemical attributes correlated well with the fetal ultrasound scans. The findings of the present study can prove to be clinically useful for clinical research, obstetrics, and gynaecology, especially for examinations of first-trimester pregnancies.

Prenatal cytogenetic diagnosis: results obtained in the specialized laboratory of Clínica Universitaria Colombia from 2013 to 2019

Objective Prenatal cytogenetic evaluation is a key tool for identifying alterations in pregnant women with high risk for fetal chromosomal abnormalities (CA). In Colombia, there are not large-scale reports about the prevalence and pattern of CA in prenatal cytogenetic analysis. Method A descriptive study was performed from registers of prenatal cytogenetic analysis on amniotic fluid (AF), chorionic villus biopsy (CVS), and fetal blood (FB) samples sent to the specialized laboratory of the Clínica Universitaria Colombia between 2013 and 2019. Results The prevalence of CA was 20.9%. The trisomies 21, 18, 13, and monosomy X were the most frequent aneuploidies, and the derivative chromosomes were the most frequent structural abnormalities. Although the rate of CA was higher in women over the age of 35 years old; monosomy X, unbalanced rearrangements, and microduplications were associated with the group of women under the age of 35 (p < .05). Trisomies 21 and 18 were the most common aneuploidies identified by FISH and were found to be altered in 52% of the aCGH studies. Ultrasonographic markers associated with CA were the most frequent clinical indication. Conclusion In Colombia, the invasive prenatal cytogenetic analysis continues being an important diagnostic tool available for pregnant women with high risk for fetal CA.

The impact of counseling indications in the decision-making process regarding second trimester prenatal genetic testing of pregnant women

Objective: The reasons for prenatal genetic test counseling were changed over the years due to the introducing new and complex screening protocols into clinical use to determine the risk of fetal chromosomal abnormalities. The aim of this study is to investigate the effects of changing new counseling reasons on the decisions about having invasive testing of patients who are given genetic diagnosis counseling in the second trimester. &#x0D; Method: This retrospective study, in one-year period, was conducted on patients who received consultancy on second trimester prenatal diagnostic testing in the fetal-maternal medicine department of Ankara City Hospital, Turkey. Counselling indications for genetic testing and patients' attitudes regarding invasive procedure after counseling were evaluated.&#x0D; Results: During the study period, 1338 patients were given prenatal genetic test counseling in the second trimester, and amniocentesis was performed for 297 of them (22.2%). The most common indications for genetic testing were abnormal ultrasound scan results (26.5%) and aneuploidy soft markers (23.8%). The highest acceptance rate was found in patients who received counseling due to abnormal screening test results in the first trimester (44.1%). While 211 (30.8%) of high-risk pregnancies underwent amniocentesis, the rate of having amniocentesis in low-risk pregnancies was 13.2% and the difference between amniocentesis acceptance rates was significant&#x0D; Conclusion: The differences in the risk criteria and risk level that require prenatal genetic diagnosis may affect the decision-making processes regarding the acceptance of genetic testing in patients who receive prenatal genetic counseling in the second trimester.

Application of Copy Number Variation Detection to Fetal Diagnosis of Echogenic Intracardiac Focus During Pregnancy.

Echogenic intracardiac focus (EIF) is one of the most common ultrasound soft markers (USMs) in prenatal screening. However, the association of EIF with chromosomal abnormalities is still controversial. From January 2018 to April 2020, a total of 571 fetuses with USMs in our center were enrolled, among which 150 (26.27%) presented EIFs. We analyzed the karyotype anomalies and copy number variations (CNVs) in fetuses who presented EIFs by comparing their ultrasound indications, maternal ages and gestational stages. There were no statistically significant differences in the incidence of chromosomal abnormalities between fetuses with EIFs and the fetuses with USMs (4.00 vs. 7.71%, p = 0.112). Additionally, the incidence of chromosomal abnormalities was not related to maternal age (4.10% in maternal age below 35 yeas vs. 3.57% in maternal age above 35, p = 1.000). Interestingly, after 28 weeks of gestation, fetuses with EIFs showed more chromosomal abnormalities (20.00%) than that in the group before 28 weeks of gestation (2.22%, p = 0.014), and this result was attributed to the detection of pathogenic CNVs. After birth, 25 of children conducted cardiac development re-examination. Among them, 9 (36%, 9/25) were diagnosed with congenital heart disease, primarily patent foramen oval and ventricular septal defects (7/9, 77.77%). We concluded that the appearance of EIFs in early or mid-trimester would not indicate an increased risk of fetal chromosomal abnormalities. However, the persistence of EIFs in late trimester was associated with a higher risk of pathology-related CNVs and its persistent appearance may indicate heart development defects after birth. Thus, our results suggest that CNV detection has its advantages in prenatal diagnosis, especially for those with EIFs that persist in the third trimester.

Predictive value of aberrant right subclavian artery for fetal chromosome aneuploidy in women of advanced maternal age

BackgroundIn the entire population, an aberrant right subclavian artery (ARSA) is closely associated with chromosomal abnormalities. ARSA with additional ultrasonic findings would increase risk of chromosomal abnormalities. The risk of fetal chromosomal abnormalities increased exponentially with the maternal age. These risks in the advanced maternal age (AMA) group are uncertain. This study aimed to determine the incidence of ARSA in Chinese AMA and non-AMA women and the frequency of aneuploidy among AMA and non-AMA women with ARSA.MethodsThis retrospective study included 13,690 singleton pregnancies, were divided into AMA and non-AMA groups. Integrated obstetric ultrasonic screening, biochemical screening, noninvasive prenatal screening, and fetal karyotype analysis were analyzed.ResultsThe overall incidence of ARSA was 0.69%, with no difference between age groups. The incidence of chromosomal abnormalities in the AMA group (37 / 2860) was much higher than that of the non-AMA group. The risk of chromosomal abnormalities significantly increased with both ARSA detected and additional ultrasound findings. With combined ARSA and AMA, the likelihood of the incidence of chromosomal abnormalities increased. Chimerism (45X / 46XX) was found with isolated ARSA in AMA pregnancies.ConclusionThere is a high prevalence of chromosomal abnormalities in fetuses of AMA women. ARSA increases the risk of chromosomal abnormalities in both age groups, especially combined with ARSA. When ARSA occurs in AMA women, it confers a high likelihood of chromosomal abnormalities.

Patient attitudes toward prenatal diagnostic testing during antenatal care in an urban population.

Investigate factors that influence the decision to accept or decline diagnostic testing for pregnant women referred for genetic counseling. Cross sectional anonymous survey of pregnant women undergoing genetic counseling at a tertiary care referral center. Subjects' perceived risk of procedure related loss and fetal chromosomal problem were obtained via survey where patients rated risk from 0 (no risk) to 10 (highest risk). There were no differences in sociodemographic factors between women undergoing a diagnostic procedure compared to those not undergoing a procedure. As the perceived risk for having a baby with genetic problem increased by one point, the estimated odds of having the diagnostic procedure increased by 43% controlling for the perceived risk of procedure related loss (p<.0001). Similarly, as the perceived risk of miscarriage increased by one point, the odds of having the diagnostic procedure decreased by 40%, controlling for the perceived risk of having a baby with a genetic problem (p<.0001). The main reason women cited for not undergoing a procedure was fear of procedure related loss. Pregnant women that decline diagnostic testing have a higher perceived risk of procedure related loss and lower perceived risk of fetal chromosomal abnormality than those who accept.

Evaluation of Amniocentesis Results in Patients With High-Risk Cell-Free Fetal DNA

Objectives: The present research was conducted to evaluate the accuracy of cell-free fetal DNA (cffDNA) in diagnosing chromosomal abnormalities and measure consistency in diagnostic results between this assay and amniocentesis. Materials and Methods: This retrospective observational study recruited pregnant women presenting for Down’s syndrome screening. These women underwent the nuchal translucency ultrasound and their serum levels of pregnancy-associated plasma protein A and free beta-human chorionic gonadotropin were measured based on the aim of the study. Amniocentesis was administered in subjects with high or uncertain risk for fetal chromosomal abnormalities and cffDNA testing or the quadruple screen test in those with moderate risk. The women diagnosed as high-risk cases in cffDNA testing also underwent amniocentesis to confirm their diagnosis. Results: Amniocentesis showed trisomy 21 as the most prevalent chromosomal abnormality in 66 (67.3%) cases, followed by trisomy 18 in 12 (12.2%) and trisomy 13 in 7 (7.1%). False-positive cffDNA results were obtained in 8 (8.2%) cases. The coefficient of agreement between these two tests was, however, obtained as 0.845 (P&lt;0.0001), and their results were significantly correlated with each other (χ2=369, P&lt;0.0001). Moreover, cffDNA was found to diagnose prenatal chromosomal abnormalities with a sensitivity of 100%, a specificity of 50%, a positive predictive value of 91.8%, and a negative predictive value of 100%. Conclusions: Given the high sensitivity of cffDNA observed in diagnosing chromosomal abnormalities, this assay can play a key role as a non-invasive procedure in prenatal diagnoses.

Screening for Fetal Chromosomal Abnormalities: ACOG Practice Bulletin Summary, Number 226.

Prenatal testing for chromosomal abnormalities is designed to provide an accurate assessment of a patient's risk of carrying a fetus with a chromosomal disorder. A wide variety of prenatal screening and diagnostic tests are available; each offers varying levels of information and performance, and each has relative advantages and limitations. When considering screening test characteristics, no one test is superior in all circumstances, which results in the need for nuanced, patient-centered counseling from the obstetric care professional and complex decision making by the patient. Each patient should be counseled in each pregnancy about options for testing for fetal chromosomal abnormalities. It is important that obstetric care professionals be prepared to discuss not only the risk of fetal chromosomal abnormalities but also the relative benefits and limitations of the available screening and diagnostic tests. Testing for chromosomal abnormalities should be an informed patient choice based on provision of adequate and accurate information, the patient's clinical context, accessible health care resources, values, interests, and goals. All patients should be offered both screening and diagnostic tests, and all patients have the right to accept or decline testing after counseling.The purpose of this Practice Bulletin is to provide current information regarding the available screening test options available for fetal chromosomal abnormalities and to review their benefits, performance characteristics, and limitations. For information regarding prenatal diagnostic testing for genetic disorders, refer to Practice Bulletin No. 162, Prenatal Diagnostic Testing for Genetic Disorders. For additional information regarding counseling about genetic testing and communicating test results, refer to Committee Opinion No. 693, Counseling About Genetic Testing and Communication of Genetic Test Results. For information regarding carrier screening for genetic conditions, refer to Committee Opinion No. 690, Carrier Screening in the Age of Genomic Medicine, and Committee Opinion No. 691, Carrier Screening for Genetic Conditions. This Practice Bulletin has been revised to further clarify methods of screening for fetal chromosomal abnormalities, including expanded information regarding the use of cell-free DNA in all patients regardless of maternal age or baseline risk, and to add guidance related to patient counseling.

Screening for Fetal Chromosomal Abnormalities: ACOG Practice Bulletin, Number 226.

Prenatal testing for chromosomal abnormalities is designed to provide an accurate assessment of a patient's risk of carrying a fetus with a chromosomal disorder. A wide variety of prenatal screening and diagnostic tests are available; each offers varying levels of information and performance, and each has relative advantages and limitations. When considering screening test characteristics, no one test is superior in all circumstances, which results in the need for nuanced, patient-centered counseling from the obstetric care professional and complex decision making by the patient. Each patient should be counseled in each pregnancy about options for testing for fetal chromosomal abnormalities. It is important that obstetric care professionals be prepared to discuss not only the risk of fetal chromosomal abnormalities but also the relative benefits and limitations of the available screening and diagnostic tests. Testing for chromosomal abnormalities should be an informed patient choice based on provision of adequate and accurate information, the patient's clinical context, accessible health care resources, values, interests, and goals. All patients should be offered both screening and diagnostic tests, and all patients have the right to accept or decline testing after counseling.The purpose of this Practice Bulletin is to provide current information regarding the available screening test options available for fetal chromosomal abnormalities and to review their benefits, performance characteristics, and limitations. For information regarding prenatal diagnostic testing for genetic disorders, refer to Practice Bulletin No. 162, Prenatal Diagnostic Testing for Genetic Disorders. For additional information regarding counseling about genetic testing and communicating test results, refer to Committee Opinion No. 693, Counseling About Genetic Testing and Communication of Genetic Test Results. For information regarding carrier screening for genetic conditions, refer to Committee Opinion No. 690, Carrier Screening in the Age of Genomic Medicine and Committee Opinion No. 691, Carrier Screening for Genetic Conditions. This Practice Bulletin has been revised to further clarify methods of screening for fetal chromosomal abnormalities, including expanded information regarding the use of cell-free DNA in all patients regardless of maternal age or baseline risk, and to add guidance related to patient counseling.

Анализ показателя риска трисомии 21 при раннем пренатальном скрининге

Важную роль в профилактике врожденной и наследственной патологии играет ранний пренатальный скрининг (РПС), включающий УЗИ, исследование сывороточных маркеров РАРР-А и β-ХГЧ, аудит. Обработка результатов обследования проводилась с помощью программы «Astraia». Анализ результатов РПС в Ивановской области за период 2013-2019 г.г. показал, что при охвате скринингом, в среднем, 85,3% беременных, вставших на учет до 14 недель гестации, выявлено 157 случаев хромосомной патологии и 126 случаев врожденных пороков развития. Однако в 55 случаях хромосомная патология плода не была заподозрена при скрининге, пациентки не попали в группу риска и родили больных детей (все дети имели трисомию 21). При этом в трети случаев (у 19 пациенток - 34,5%) риск трисомии 21 оценивался как промежуточный и находился в интервале от 1:100 до 1:1000, в том числе у 3 женщин (5,5%) - в интервале от 1:100 до 1:300. Мы полагаем, что пациентки с промежуточным значением риска хромосомной патологии плода нуждаются в дальнейшем обследовании с целью верификации диагноза, и их необходимо информировать о возможностях неинвазивного пренатального теста. Early prenatal screening that includes ultrasound diagnostics, study of serum markers of PAPP-A and β-HCG, audit plays an important role in the prevention of congenital and hereditary diseases. The results of the study were processed with «Astraia». Analysis of the results of early prenatal screening in the Ivanovo region for the period 2013-2019 showed that when screening coverage, on average, 85.3% of pregnant women registered before 14 weeks of gestation, 157 cases of chromosomal pathology and 126 cases of congenital malformations were detected. However, in 55 cases, the diagnosis of fetal chromosomal pathology was not suspected during screening, and the patients were not at risk and gave birth to sick children (all children had trisomy 21). At the same time, in 1/3 of cases (in 19 patients - 34.5%), the risk of trisomy 21 was estimated as intermediate and was in the range from 1:100 to 1:1000, including in 3 women (5.5%) - in the range from 1:100 to 1:300. We suppose that patients with an intermediate risk of fetal chromosomal abnormalities need further examination to verify the diagnosis, and they should be informed about the possibilities of a non-invasive prenatal test.

Совершенствование тактики ведения беременности у пациенток с ложноположительным риском хромосомных аномалий плода

Совершенствование тактики ведения беременности у пациенток с ложноположительным риском хромосомных аномалий плода

Пренатальный скрининг как предиктор гестационных осложнений

Objective.To analyze the course and outcomes of pregnancies in women at high risk of fetal chro-mosomal abnormalities, preeclampsia, fetal growth retardation, and preterm birth according to the results of prenatal screening. Patients and methods. This prospective study included 443 women with singleton pregnancies. Study participants were divided into two groups: Group 1 included women at high risk of complica-tions (n = 235), while Group 2 (control) comprised women at low risk of gestational complications (n = 208). Patients in Group 1 were further subdivided into 4 subgroups: subgroup 1A included women at risk of fetal chromosomal abnormalities (CA) (n = 69); subgroup 1B included women at risk of preeclampsia (PE) (n = 66); subgroup 1C included women at risk of fetal growth retardation (FGR) (n = 48); and subgroup 1D included women at risk of preterm birth (PB) (n = 52). Confirmed chromosomal abnormalities were considered as an exclusion criterion. Results. Threatened miscarriage (TM) and bleeding in the first trimester were significantly more common in patients from Group 1. In the second trimester, the risk of TM was increased among women from subgroups 1A, 1B, 1C, and particularly 1D. In the third trimester, we observed sig-nificant differences in the frequency of FGR between group 1 (subgroups 1A, 1С, 1D) and controls. In subgroups 1A, 1B, 1C, and 1D, the incidence of PE and FGR was higher in patients who did not receive aspirin. The frequency of threatened PB was higher in subgroups 1B, 1C, and 1D compared to Group 2 (p &lt; 0.05). Conclusion. High prenatal risk of fetal CA should be considered as a risk factor for PB, TM, FGR, and PE. Key words: prenatal screening, chromosomal abnormalities, preeclampsia, fetal growth retarda-tion, preterm birth, pregnancy, perinatal risk

Correlation of thickened nuchal fold with fetal chromosomal abnormalities among 919 cases

To explore the correlation between fetal nuchal fold (NF) thickening and fetal chromosomal abnormality. In total 919 pregnant women undergoing ultrasound examination were selected for interventional prenatal diagnosis in order to detect fetal chromosomal abnormality. The detection rate of chromosomal abnormality has significantly increased with NF thickness, advanced maternal age, presence of other ultrasound abnormalities (P<0.05). Trisomy 21 was the most common abnormality, and there was a prepondance for male fetuses. Increased NF thickness is strongly associated with the risk of fetal chromosomal abnormalities, advanced maternal age and presence of additional ultrasound abnormalities.