Fetal Chromosomal Abnormalities Research Articles

Cell-free DNA versus sequential screening for fetal chromosomal abnormalities varied by age: a cost-effectiveness analysis

Cell-free DNA (cfDNA) and sequential screening (SS) are frequently used for prenatal genetic screening. Though cfDNA has higher detection rates for common aneuploidies, SS may better identify risk for other nontargeted aneuploidies. We compared the cost-effectiveness of cfDNA versus SS for detection of fetal chromosome abnormalities across varied age cohorts. A decision-analytic model compared cfDNA versus SS for diagnosis of chromosomal abnormalities across different maternal age cohorts stratified by 5-year increments of < 20, 20-24, 25-29, 30-34, 35-39, 40-44, and >45 years. Chromosomal abnormalities included trisomy 21 (T21), trisomy 18 (T18), trisomy 13 (T13), 45X syndrome, sex chromosome abnormalities (SCA), and other nontargeted chromosomal abnormalities . Probabilities, costs, and utilities were derived from literature and varied in sensitivity analysis. The primary outcome was incremental cost per quality-adjusted life year (QALY). We also considered affected neonates, missed prenatal diagnoses, procedure-related loss (PRL), pregnancy termination (TOP), stillbirth, and neonatal death (NND). The cost-effectiveness threshold was $100,000/QALY. SS was cost-effective for detection of all fetal chromosome abnormalities until age 39. Cell-free DNA was only cost-effective starting at age 40, with an Incremental Cost Effectiveness Ratio (ICER) of $51,919/QALY (40-44 years) and ICER $16,830/QALY ( >44 years). In all maternal age cohorts, cfDNA led to more frequent identification of T21, T18, T13, 45X and SCA but fewer other nontargeted chromosomal abnormalities. cfDNA was associated with more terminations and fewer stillbirths, NND, and PRL. The model was sensitive to the prevalence of T21. When varying the prevalence of T21 in the age 35-39 cohort cfDNA was cost effective when the prevalence of T21 was greater than 0.017 which corresponds with the prevalence of T21 at a maternal age of 39. Compared to cfDNA, SS is a cost-effective screening method for fetal chromosome abnormalities for pregnant persons under the age of 40 at a population-based level.View Large Image Figure ViewerDownload Hi-res image Download (PPT)

The Association between the Bisphenols Residues in Amniotic Fluid and Fetal Abnormalities in Polish Pregnant Women—Its Potential Clinical Application

The present study aimed to investigate the relationship between the concentrations of bisphenols residues in the amniotic fluid (AF) samples collected during amniocentesis and fetal chromosomal abnormalities in pregnant women. A total of 33 pregnant Polish women aged between 24 and 44 years, and screened to detect high risk for chromosomal defects in the first trimester, were included in this study. Samples were collected from these patients during routine diagnostic and treatment procedures at mid-gestation. The concentrations of various bisphenols residues in the samples were determined by liquid chromatography coupled with triple quadrupole tandem mass spectrometry (LC-ESI-QqQ-MS/MS). Residues of eight analytes (BPS, BPF, BPA, BPAF, BADGE, BADGE•2H2O, BADGE•H2O•HCl and BADGE•2HCl) were detected in amniotic fluid samples in the range 0.69 ng/mL to 3.38 ng/mL. Fetuses with chromosomal abnormalities showed a slightly higher frequency of occurrence of selected bisphenols residues in the AF samples collected between 15-26 weeks of pregnancies. Finally, the proposed method was applied in the simultaneous determination of several endocrine-disrupting chemicals from bisphenol group in 33 human AF samples. BADGE•H2O•HCl has been identified in the AF samples taken from women older than average in the examined group. The number of detected compounds has been significant for the following analytes: BPS, BPAF, BADGE•H2O•HCl and BADGE. The proposed method may be an attractive alternative for application in large-scale human biomonitoring studies.

Fetal chromosomal abnormality and risk to pregnancy

Fetal chromosomal abnormality and risk to pregnancy

Application of Complete Prenatal Diagnosis in Fetal Ultrasound Abnormalities.

To investigate the value of prenatal diagnosis in fetal ultrasound abnormalities. Amniotic fluid samples of pregnant women who underwent invasive amniocentesis for ultrasound examination suggestive of fetal ultrasound structural abnormalities and soft markers of abnormalities during pregnancy from January 2016 to June 2021 at the Prenatal Diagnostic Center of Putian College Hospital were collected for amniotic fluid cell culture and G manifest band karyotype analysis. (1) Most pregnant women with ultrasound abnormalities were delivered at the age of 23 to 32 years. (2) There were 66 cases of abnormal karyotype with an abnormal incidence of 9.64% (66/685), with chromosomal number abnormalities predominating. (3) Fetal ultrasound abnormalities are mainly soft markers of abnormalities. (4) The comparison of ultrasound abnormalities in the low and high maternal-fetal age groups was not statis-tically significant. (1) Fetal ultrasound abnormalities are mainly soft markers of abnormalities. (2) The rate of fetal chromosomal abnormalities was the highest among the soft ultrasound indicators with NT thickening. (3) The incidence of fetal ultrasound abnormalities did not increase with increasing age. There was no statistical difference in the incidence of chromosomal abnormalities between the low age group and the high age group. (4) Fetal ultrasound testing provides a scientific and accurate basis for clinical heritage counseling and rebirth counseling, especially for chromosomal aneuploidy number abnormalities.

The role of non-invasive prenatal testing and ultrasound in prenatal screening of fetal chromosomal abnormalities in singleton: a retrospective study.

Non-invasive prenatal testing (NIPT) has good screening performance for common chromosomes, but it may have false positive (FP) and false negative (FN) results for various reasons. For abnormal NIPT results, the combination of fetal ultrasound phenotypes will provide more fetal information for prenatal diagnosis. The aim of this study was to combine NIPT and ultrasound phenotypes to analyze their complementary roles in prenatal screening of fetal chromosome abnormalities. From January 2018 to December 2021, 12,803 pregnant women with singleton who successfully underwent NIPT/expanded NIPT (NIPT-Plus) at Xiangya Hospital of Central South University, of which 111 cases were positive results and one case was FN result. We retrospectively collected the clinical features, ultrasonographic findings, prenatal diagnosis, and pregnancy outcomes of these 112 pregnant women and analyzed the ultrasonic manifestations of different chromosomal abnormalities in detail. The positive predictive values (PPVs) of NIPT/NIPT-Plus for trisomy (T)21, T18, sex chromosome abnormality (SCA), microdeletion/microduplication syndrome (MMS), T13, and rare autosomal trisomy (RAT) were 100.0%, 85.7%, 57.1%, 44.4%, 40.0%, and 7.7%, respectively. The total termination rates of pregnancy for T21, T18, T13, SCA, pathogenic MMS, and RAT were 93.5%, 100.0%, 100.0%, 66.7%, 100.0%, and 100.0%, respectively. From the karyotypes of SCA live-born fetuses, 47,XYY and 47,XXX were more likely to be selected for continued pregnancy. The ultrasound phenotypes of T21 were diverse, including normal, soft marker, and structural malformation. Both T18 and T13 had structural malformations as the main phenotypes. Most ultrasound phenotypes of FP T21, T18, and T13 were normal but occasionally manifested as fetal growth restriction (FGR). The ultrasound phenotypes of SCA, MMS, and RAT were relatively mild and manifested as normal, soft marker, FGR, or polyhydramnios, and the ultrasound phenotypes were similar between FP and true positive (TP) cases. Ultrasound phenotypes are helpful in identifying FP NIPT/NIPT-Plus results, especially for T18 and T13. Given its mild ultrasound phenotypes, NIPT-Plus has important clinical significance in reducing the missed diagnosis of SCA, MMS, and RAT, but its screening performance needs to be further improved.

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.

Serum biochemical parameters in pregnant women with and without fetal chromosomal abnornalities

Aim. To analyse the levels of serum beta-human chorionic gonadotropin (β-hCG) and pregnancy-associated plasma protein A (PAPP-A) in pregnant women without fetal chromosomal abnormalities and with fetal trisomy 21 (Down syndrome) or 18 (Edwards syndrome).Materials and Methods. We performed a retrospective analysis of serum biochemical parameters of 1214 women who had previously undergone karyotyping as a part of prenatal or postnatal screening. Patients were stratified into those with a normal fetal karyotype, those carrying a fetus with trisomy 21, and those carrying a fetus with trisomy 18. Levels of serum β-hCG and PAPP-A were estimated using the AutoDELFIA automatic immunoassay system.Results. In most of the women carrying a fetus with trisomy 21, serum β-hCG has been increased as compared to the reference range. In contrast, women carrying a fetus with trisomy 18 generally had reduced serum β-hCG. In both cases, the level of serum PAPP-A has been decreased in comparison with a reference range. The proportion of women with a 2-fold reduced serum PAPP-A was 52.4% and 88.6% if carrying fetuses with trisomy 21 and trisomy 18, respectively.Conclusion. Serum b -hCG has been increased as compared to the reference range. In contrast, women carrying a fetus with trisomy 18 generally had reduced serum β-hCG. In both cases, the level of serum PAPP-A has been decreased in comparison with a reference range. The proportion of women with a 2-fold reduced serum PAPP-A was 52.4% and 88.6% if carrying fetuses with trisomy 21 and trisomy 18, respectively.Conclusion. Serum b-hCG and PAPP-A are sensitive markers of fetal trisomy 21 and trisomy 18 in pregnant women.

Efficiency of intravenous therapy with Intralipid fat emulsion in patients with early reproductive loss

BACKGROUND: Immune mechanisms play a leading role in the pathogenesis of early reproductive loss. Modern methods of regulating disorders of immune homeostasis to overcome infertility and recurrent miscarriage include immune-efferent therapies such as immunocytotherapy, plasmapheresis, and intravenous administration of immunoglobulins and fat emulsions. Intralipid is the gold standard of the first generation parenteral fat emulsion that reduces the cytotoxicity of NK cells. In the literature, there are opposite data on the effectiveness of Intralipid fat emulsion in repeated implantation failure. This may be due to indications for its appointment and the choice of criteria for evaluating the effectiveness of this therapy.&#x0D; AIM: The aim of this study was to evaluate the effect of Intralipid therapy on the onset of pregnancy in patients with a history of early reproductive loss.&#x0D; MATERIALS AND METHODS: This prospective cohort study was conducted in Saint Petersburg, Russia in 20182021 and included 97 patients with a history of early reproductive loss (recurrent pregnancy loss or repeated In Vitro Fertilization failures). Patients were randomized into two study groups. The first group consisted of 41 women with Intralipid therapy, and the second group comprised 56 women without this therapy. Patients of the first group received 200 ml of Intralipid 20% (intravenous fat emulsion) once a month for three consecutive months before pregnancy. Inclusion criteria were ages 18 to 40 years, two cases of reproductive failure (pregnancy loss up to 12 weeks and / or unsuccessful In Vitro Fertilization attempts), and normal spouse karyotypes. Exclusion criteria were miscarriage due to fetal chromosomal abnormalities diagnosed by curettage and histopathological examination of products of conception from miscarriages, anatomical anomalies in the development of the genital apparatus, abnormal spouse karyotypes, and soy protein allergy. We evaluated anamnesis data and immunological parameters (functional activity of NK cells in peripheral blood before and after treatment). The efficacy of therapy was judged by the onset of pregnancy.&#x0D; RESULTS: The Mann Whitney U-test showed the difference in the levels of NKT cells before and after treatment with fat emulsions (p = 0.0076), this parameter decreasing 1.846 times compared to control. Clinical pregnancy in patients treated with Intralipid occurred twice as often compared to patients who did not receive fat emulsion therapy: 59.3% (n = 19) vs. 27.6% (n = 13), respectively (p = 0.0048).&#x0D; CONCLUSIONS: Intralipid fat emulsion increases pregnancy rates by decreasing NKT cells in women with early reproductive loss.

Risk Factors of Spontaneous Abortion

Spontaneous abortion is defined as a pregnancy loss at the gestational age of under 20 weeks or within the first trimester, which is usually marked by intravaginal bleeding and expulsion of conceptus through the cervix. In 20% of pregnancies, vaginal bleeding occurs prior to 20 weeks of gestational age, and 50% of these cases develop into spontaneous abortion. More than 80% of spontaneous abortion occurs before 12 weeks of gestational age. There are many factors contributing to the incidence of spontaneous abortion such as prior miscarriage and maternal age. Several chronic diseases are also known to trigger spontaneous abortion, such as diabetes and autoimmune diseases. Immediate postpartum conception and infections, such as cervicitis, vaginitis, HIV, syphilis and malaria are also common risk factors. In some cases, fetal chromosomal abnormalities may also cause spontaneous abortion. Environmental contaminants such as arsenic, lead, and organic solvents are thought to be factors that may induce spontaneous abortion.

EVALUATION OF THE MEDICAL AND ECONOMIC EFFICIENCY OF NON-INVASIVE PRENATAL TESTING IN MOSCOW

to evaluate the medical and economic efficiency of prenatal diagnostics of fetal chromosomal abnormalities (CA) in pregnant women in Moscow using a non-invasive prenatal test (NIPT) as a second-line model. A comparative analysis of the medical and economic efficiency of standard prenatal screening and prenatal screening with NIPT in groups of pregnant women, registered in Moscow, with high and medium fetal CA risk was carried out. Analysis was based on the number of children born with CA and the costs of medical care (direct costs) and social payments (indirect costs), calculated for both scenarios. Following standard prenatal screening 111 children with CA would be born, following prenatal screening with NIPT - only 26. Including NIPT in prenatal diagnostics increases direct costs by 299.97 million rubles and reduces annual indirect costs from 61.19 to 28.95 million rubles. Starting from the 13th year of using NIPT the estimated effect of reducing indirect costs would exceed direct costs. NIPT in prenatal diagnostics can increase the detection of fetal CA and reduce indirect costs. Assessing the indirect costs in economic efficiency enhances the accuracy of the estimate.

Application of chromosomal microarray analysis for fetuses with choroid plexus cysts

To assess the value of chromosomal microarray analysis (CMA) for fetuses with choroid plexus cysts (CPC) detected by prenatal ultrasonography. Amniotic fluid chromosomal karyotype was analyzed in 104 fetuses with CPC, and copy number variations (CNVs) among the fetuses were detected by using CMA. Ten fetuses (9.62%) were found to have an abnormal karyotype, and 14 additional CNVs were detected in those with a normal karyotype. The fetuses were divided into isolated CPC group (n = 87) and non-isolated CPC group (n = 17) based on the presence of additional ultrasonographic abnormalities. The detection rates for karyotypic abnormalities of the two groups were 4.6% and 35.3%, respectively, whilst those for the CMA were 4.6% and 47.1%, respectively. The detection rates for karyotypic abnormalities and CMA of the non-isolated CPC group were significantly higher than those of the isolated CPC group (P < 0.05). The detection rate for CMA in the non-isolated group was significantly higher than chromosomal karyotype abnormalities (P < 0.05). Among the 8 fetuses with abnormal CMA, 4 had single umbilical artery, 3 had abnormal cardiac structure, and 2 had enhanced intestinal echo. CPC is closely associated with chromosomal abnormalities. Chromosome karyotype analysis in combination with CMA can effectively detect fetal chromosomal abnormalities and provide a basis for genetic counseling.

Combined use of karyotyping and copy number variation sequencing technology in prenatal diagnosis.

Karyotyping and genome copy number variation sequencing (CNV-seq) are two techniques frequently used in prenatal diagnosis. This study aimed to explore the diagnostic potential of using a combination of these two methods in order to provide a more accurate clinical basis for prenatal diagnosis. We selected 822 pregnant women undergoing amniocentesis and separated them into six groups according to different risk indicators. Karyotyping and CNV-seq were performed simultaneously to compare the diagnostic performance of the two methods. Among the different amniocentesis indicators, abnormal fetal ultrasounds accounted for 39.29% of the total number of examinees and made up the largest group. The abnormal detection rate of non-invasive prenatal testing (NIPT) high risk was 37.93% and significantly higher than the other five groups (P<0.05). The abnormal detection rate of mixed indicators was significantly higher than the history of the adverse reproductive outcomes group (P = 0.0151). The two methods combined found a total of 119 abnormal cases (14.48%). Karyotyping detected 57 cases (6.93%) of abnormal karyotypes, 30 numerical aberrations, and 27 structural aberrations. CNV-seq identified 99 cases (12.04%) with altered CNVs, 30 cases of chromosome aneuploidies, and 69 structural aberrations (28 pathogenic, eight that were likely pathogenic, and 33 microdeletion/duplication variants of uncertain significance (VUS)). Thirty-seven cases were found abnormal by both methods, 20 cases were detected abnormally by karyotyping (mainly mutual translocation and mostly balanced), and 62 cases of microdeletion/duplication were detected by CNV-seq. Steroid sulfatase gene (STS) deletion was identified at chromosome Xp22.31 in three cases. Postnatal follow-up confirmed that babies manifested skin abnormalities one week after birth. Six fetuses had Xp22.31 duplications ranging from 1.5 Kb to 1.7 Mb that were detected by CNV-seq. Follow-up showed that five babies presented no abnormalities during follow-up, except for one terminated pregnancy due to a history of adverse reproductive outcomes. The combination of using CNV-seq and karyotyping significantly improved the detection rate of fetal pathogenic chromosomal abnormalities. CNV-seq is an effective complement to karyotyping and improves the accuracy of prenatal diagnosis.

Dilemma of belimumab therapy (dis)continuation during pregnancy: Results of a retrospective study in eudravigilance.

The first biologic authorized for systemic lupus erythematosus (SLE) up to this date, belimumab, is currently not recommended for use during pregnancy due to lack of data. Provided that the health of the child begins with the health of the mother, pregnant patients face the dilemma of cessation or continuation of belimumab. If belimumab is stopped, there will be a risk of SLE flare and its consequences for the mother and the foetus. Continuation is also not optimal because of the lack of knowledge on safety for use during pregnancy. To compare the reported foetal outcomes in SLE patients who stopped scheduled belimumab within the first trimester (group A) and those who continued scheduled belimumab during the first trimester or thereafter (group B). All belimumab-exposed pregnancy-related reports were extracted from the EudraVigilance (EV) database until March 11th, 2021. After case review, repeated cases, uninformative reports, non-medical elective abortions and foetal chromosomal abnormalities were excluded. Included pregnancies were divided into two groups (group A and B, as described above). Foetal outcomes were divided into live birth or foetal death (due to miscarriage or stillbirth) and were compared between both groups. Furthermore, neonatal outcomes, such as reporting rates of preterm birth, low birth weight and major congenital malformations were compared. No statistical difference in foetal death was observed between group A and B (reported numbers (%) = 32 (46.4) and 11 (52.4), respectively). Odds ratio (OR, [95% Confidence Intervals (CIs)]) of foetal death in group B compared to group A was 1.27 [0.48, 3.32]. Reporting rates of preterm birth and low birth weight were higher - though not statistically different - in group A. The positive results of our study are supportive for the continuation of belimumab during pregnancy. Since the analysis is based on spontaneous reports/retrospective data, additional studies are needed to confirm the results.

Combination of PLGF and PAPPA as a biochemical markers to the first trimester maternal screening

Screening of fetal chromosomal abnormalities is an essential part of antenatal care. Effective first trimester screening involves PAPP-A (pregnancy associated plasma protein A) and free HCG (human chorionic gonadotropin) levels in the maternal serum along with ultrasound examination. The objective of this study is to investigate whether the measurement of PLGF (Placental Growth Factor) can improve the performance of first trimester combined screening for Trisomy 21, 18 and 13. A total of 350 samples were collected from pregnant women during the first trimester between 10 to 14 weeks of gestation. The ultrasound (US) data were collected from all cases which include US gestational age, NT value, CRL, and fetus number, if any. Blood samples were collected and tested for PAPP-A and free HCG tests. The combined risk of trisomy 21, 18 and 13 were calculated using PRISCA software. The screen positive cases (more than a defined cutoff rate) were stored at -20oC for PLGF testing. A total of 97 cases, including low and high risk patients were analyzed for PLGF. A significant reduction was observed among the risk group p ≤ 0.005 when compared to the negative control group. A positive correlation between PLGF and PAPPA was identified (r=0.69) p ≤0.001. In conclusion the study provide data indicating that inclusion of serum PLGF improve the performance of first trimester combined test for screening of Trisomy 21, 18 and 13 risk

Residual risk of noninvasive prenatal screening in pregnancies with ultrasound anomalies

ObjectivesTo discuss the residual risk (RR) of noninvasive prenatal screening (NIPS) for the mothers with fetal ultrasound abnormalities. Methods880 pregnant women with fetal ultrasound abnormalities accepted prenatal diagnosis by chromosomal microarray analysis (CMA) after amniocentesis. Furthermore, the detection efficiency of NIPS was evaluated and calculated based on our previous studies and other literatures. The RR of the chromosome abnormality results was then analyzed. ResultsA total of 103 cases were confirmed as fetal chromosome abnormalities, including 65 (63.1%) of aneuploidies and 38 (36.9%) of clinical significant copy number variations (CNVs). Of which, based on the estimated NIPS efficacy, 87 cases could also be detected by NIPS. The detection rate (DR) was 84.5%, while 16 cases would be missed. The total of RR of NIPS in the fetuses with ultrasound anomalies was 2.0% (16/793), approximately one in 51. The top three RR of fetal ultrasound abnormalities were echogenic bowel (5.9%), multiple systems of structural anomalies (4.5%), and nervous system anomalies (4.2%). ConclusionThe overall residual risk of NIPS in the fetuses with ultrasound anomalies was approximately 2.0%, especially in echogenic bowel, multiple systems of structural anomalies and nervous system anomalies.

Non-Invasive Prenatal Testing: the International Experience of Medical and Economic NIPT Efficiency Evaluation

Non-invasive prenatal testing (NIPT) is a molecular genetic method of cell-free fetal DNA fetal chromosomal abnormalities risks assessing. Currently, NIPT is quite widespread throughout the world, and its clinical efficacy high sensitivity and specificity has been repeatedly proven. At the same time, the decision to include NIPT in the algorithm of prenatal diagnostics carried out with public funds depends on its cost-effectiveness, which should be assessed separately for each country or territory due to different costs and different models of inclusion. This article presents the different countries approaches to the assessment of the medical and economic efficiency of NIPT.

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.

Sonographic Dimension of Fetal Nuchal Translucency in Kano Metropolis: A single Center Study

Background: Nuchal Translucency Thickness (NTT) is a hypo-echoic region of subcutaneous fluid accumulation in the posterior neck region at the level of the cervical spine between the skin and soft tissues and is mostly found at 11–13 weeks of fetal gestation. It is visualised with a mid-sagittal ultrasound view of the fetus in a neutral position. The NTT provides a risk assessment for chromosomal abnormalities which has been used as a marker of possible fetal abnormalities. Hence, the justification to conduct the present study.&#x0D; Aim: To establish the mean fetal nuchal translucency thickness with corresponding gestational age (GA) and to assess the correlation between Crown Rump Length (CRL), GA, and NTT among apparently healthy pregnant women.&#x0D; Methods: A cross-sectional study was conducted among 150 apparently normal consenting pregnant women in their late first trimester in the Radiology department of Muhammad Abdullahi Wase Teaching Hospital, Kano from February 2021 to May 2021. Ultrasonographic measurements of the crown-rump length (CRL), gestational age (GA), and NTT were performed on pregnancies within 11 to 13 weeks of gestation. Their 2.5th, 25th, median and 97.5th percentiles of the NTT, GA, and CRL were determined using SPSS version 23 (IBM, 2017). Indicate correlation… as part of the analysis.&#x0D; Results: Median NTT at 11-13+6 weeks of gestation was found as 3.0±0.10mm. The NT thickness increased with increasing CRL and gestational week in the first trimester. The correlation coefficient between NTT and CRL as well as GA were 0.472 and 0.451, respectively.&#x0D; Conclusion: The overall mean NTT in Kano fetuses was determined. These should be useful for first-trimester screening in ruling out potential fetal chromosomal abnormalities in Kano, Nigeria.

Assessing the value of second-trimester nasal bone hypoplasia in predicting chromosomal abnormalities: a retrospective chromosomal microarray analysis of 351 fetuses.

To evaluate the value of fetal nasal bone hypoplasia and other prenatal risk factors in predicting chromosomal abnormalities. In this retrospective cohort study, we collected data on singleton pregnancies diagnosed with fetal nasal bone hypoplasia during second-trimester ultrasound. Fetal karyotyping and chromosomal microarray analysis (CMA) were performed, and pregnancy outcomes were assessed. The association between fetal nasal bone hypoplasia and chromosomal abnormalities was evaluated according to whether other prenatal risk factors were observed. Our final analysis included 351 pregnancies, of which 62 (17.7%) fetuses had chromosomal abnormalities, including 36 cases of trisomy-21, six cases of trisomy-18, one case each of trisomy-13, and 47, XYY syndrome, and 18 cases of copy number variations (CNVs). Among the 243 cases of isolated nasal bone hypoplasia, 28 (11.5%) cases of chromosomal aberrations were identified. The incidence was significantly higher if other soft markers or structural abnormalities were simultaneously detected. Pregnancy was terminated in 43 aneuploid fetuses and nine fetuses detected with CNVs. The parents of the fetuses diagnosed with 47, XYY syndrome and the other nine CNVs chose to continue the pregnancy, and no abnormalities were detected in the newborns. Furthermore, we found that other prenatal risk factors should be considered in evaluating the likelihood of chromosomal abnormalities in fetuses with nasal bone hypoplasia. Nasal bone hypoplasia is a highly specific soft marker that is associated with multiple chromosomal abnormalities. The risk of chromosomal abnormalities increases when combined with structural abnormalities or increased nuchal translucency (NT). Chromosomal microarray analysis is a powerful prenatal test for chromosomal abnormalities, which may be warranted in fetuses with nasal bone hypoplasia.

Genome-Wide Cell-Free DNA Test for Fetal Chromosomal Abnormalities and Variants: Unrestricted Versus Restricted Reporting.

This study aimed to compare the screening performance of genome-wide cfDNA testing for chromosomal abnormalities between two periods where additional findings were reported and not reported. Data were obtained from consecutive pregnant women with a singleton pregnancy at ≥10 weeks who requested cfDNA testing during 2015–2019. The performance of screening of the cfDNA test was determined by calculating the concordance rate, detection rate, and false-positive rate. Data from 3981 women were included. The no-result rates were similar between the two reporting periods (2.04% vs. 2.08%). Concordance rates for trisomy 21 and 18 were 100% and 100%, respectively. There were two cases tested high risk for trisomy 13, with a concordance rate of 0%. In total, 12 cases were high risk for any sex chromosome aneuploidy with an overall concordance of 75%, and 15 cases tested high risk for any rare autosomal trisomy, with a 13.3% concordance rate. The detection rates for trisomy 21 and 18 were 100% and 100%, respectively. For any SCA, the detection rate was 90%. For the two reporting periods, the combined false-positive rates were 0.93% and 0.17%, which were significantly different (p = 0.002). Restricting the reporting of additional findings from genome-wide cfDNA analysis has reduced the false-positive rate but without a reduction in the no-result rate.