scholarly journals CHROMOSOMAL PATHOLOGY MARKERS IN FETUS AT THE AGE OF 10-13 WEEKS + 6 DAYS

2021 ◽  
Vol 19 (4) ◽  
Author(s):  
N.M. Prokopchuk ◽  
O.P. Antonyuk ◽  
Yu.A. Ivanov ◽  
M.I. Nikolenko
Keyword(s):  
High Risk ◽  
Pregnant Women ◽  
Chromosomal Abnormalities ◽  
Medical Center ◽  
Nasal Bone ◽  
Complete Information ◽  
First Trimester ◽  
Biochemical Testing ◽  
Β Hcg ◽  
Fetal Pathology

The most complete information about chromosomal pathology presence in fetuses of thefirst trimester of pregnancy is provided by the use of complex markers: PAPP-A (plasmaprotein-A associated with pregnancy) + free β-hCG (human β chorionic gonadotropin)ultrasound (CP - collar space + nasal bone) for the 10-14th week of development.Purpose of the work – determination of the risk of chromosomal pathology in fetuses inthe first trimester of pregnancy based on markers: biochemical testing of PAPP + freeβ-hCG from the 10-14th week of pregnancy; Ultrasound investigation (US): measurementof the collar space and nasal bone presence.Material and methods: 258 pregnant women with a high risk of chromosomalabnormalities in the first trimester were examined by means of markers: biochemicaltesting of PAPP + free β-hCG and measurements of the collar space. The values ofthe measured markers are expressed as a constituent of the expected median for thecorresponding gestational term. Medians, the 5th and 95th percentiles, percentage outsidethe expected 5th and 95th percentiles, as well as percentage outside the expected 5th /95th percentiles to establish fetal pathology. The study was performed on an ultrasoundscanner Voluson Expert 8 using a transducer with 3-4D transabdominal RAB 4-8D, RAB6-D, and transvaginal RIC 5-9D. Medical Center "EKHOMED" is engaged in expertultrasound envestigations, as well as invasive examinations, which are required for verification of fetal pathology, is the base of Danylo Halytsky Lviv Medical University,DPGE, Department of Radiation Diagnostics.Results. The analysis was carried out in 258 pregnant women with a high risk ofchromosomal abnormalities in the first trimester using markers: biochemical testing ofPAPP + free β-hCG from 10-14 weeks of pregnancy; measurement of the collar spacethickness and visualization or absence of the nasal bone. The pathology is increasedexponentially with the collar space from 0.2% for those fetuses whose thickness isbetween the 5th and 95th centiles, up to 65% for a thickness of 6.5 mm or more. Inthe group of fetuses with chromosomal abnormalities, about 50% have trisomies 21,25% have trisomies 18 or trisomies 13, 10% have Turner syndrome, 5% have triploidy,and 10% have other chromosomal abnormalities. The combination of collar size andPAPP-A and free ß-hCG testing results in a sensitivity of over 90% and a specificity ofover 95%. The rate of false positives is reduced from 3.0% to 2.5%.Conclusions. The thickness of the collar space in chromosomal abnormalities growsexponentially with the thickness of the collar space from 0.2% for those fetuses whosethickness is between the 5th and 95th centile, up to 65% with a collar space thicknessof 6.5 mm or more. In the group of fetuses with chromosomal abnormalities, about 50%have trisomies 21, 25% have trisomies 18 or 13, 10% have Turner's syndrome, 5% havetriploidy, and 10% have other chromosomal abnormalities. The combination of the sizeof the collar space and PAPP-A and free ß-hCG determinations showed a sensitivity ofmore than 90% and a specificity over 95%.

scholarly journals Ultrasound elastography capabilities in studying uterine cerviх state in pregnant women of high-risk group in the first trimester of pregnancy

2016 ◽  
Vol 97 (4) ◽  
pp. 656-661
Author(s):  
M G Tukhbatullin ◽  
K V Yanakova
Keyword(s):  
High Risk ◽  
Pregnant Women ◽  
Chromosomal Abnormality ◽  
Chromosomal Abnormalities ◽  
Ultrasound Examination ◽  
Risk Group ◽  
First Trimester ◽  
High Risk Group ◽  
Control Group ◽  
Significant Difference

Aim. To study capabilities of quantitative elastographic study to assess the elasticity of the uterine cervix in women with a fetal chromosomal abnormality in the first trimester of pregnancy.Methods. 230 pregnant women of high-risk group at 11-13.6 weeks of pregnancy (parietal-coccygeal length 45-84 mm) were included in this study. The first group consisted of 213 women without fetal pathology. The second group included 17 women, in whose fetuses different chromosomal abnormalities were detected. In ultrasound examination of pregnant women in the I trimester of pregnancy, in addition to standard methods of examination, quantitative cervical elastography was performed.Results. According to results of quantitative elastography in 14 (82.35%) out of 17 pregnant women (second group) one or another degree of the cervical tissue softening was found, and 3 (17.64%) pregnant women with fetal chromosomal pathology had stiff cervix (all 3 cases with Down syndrome). In the control group in 10 (4.7%) of 213 pregnant women relatively soft cervix was identified, and in 203 (95.3%) women cervical density was higher than the myometrial density. A statistically significant difference between the indices of SWE-Ratio in groups was revealed. Quantitative elastography, as a diagnostic test predicting the risk of miscarriage due to chromosomal abnormalities, has a high sensitivity (84.38%) and even higher specificity (95.26%) of negative predictive value 97.57%.Conclusion. Quantitative elastography reveals a significant decrease in the cervical elasticity (softening) in pregnant women with fetal chromosomal abnormality in the I trimester of pregnancy, which allows us to recommend this method of ultrasound examination as an additional marker for early diagnosis of miscarriage due to fetal chromosomal abnormality.

scholarly journals Utility of fetal facial markers on a second trimester genetic sonogram in screening for Down syndrome in a high-risk Thai population

2022 ◽  
Vol 22 (1) ◽  
Author(s):  
Savitree Pranpanus ◽  
Kanokkarn Keatkongkaew ◽  
Manaphat Suksai
Keyword(s):  
Down Syndrome ◽  
High Risk ◽  
Pregnant Women ◽  
Chromosomal Abnormalities ◽  
Intraclass Correlation ◽  
Nasal Bone ◽  
Reference Ranges ◽  
Second Trimester ◽  
2D Ultrasound ◽  
Down Syndrome Screening

Abstract Background To establish the reference ranges and evaluate the efficacy of the fetal facial sonomarkers prenasal thickness (PT), nasal bone length (NBL), PT/NBL ratio and NBL/PT ratio for Down syndrome screening in the second trimester of high-risk pregnancies using two-dimensional (2D) ultrasound. Methods A prospective study was done in Thai pregnant women at high risk for structural and chromosomal abnormalities between May 2018 and May 2019. The main exclusion criteria were any fetal anatomical anomaly detected on ultrasonography or postpartum examination, abnormal chromosome or syndrome other than Down syndrome. Ultrasounds were performed in 375 pregnant women at 14 to 22 weeks’ gestation and the fetal facial parameters were analyzed. Down syndrome results were confirmed by karyotyping. The reference ranges of these facial ultrasound markers were constructed based on the data of our population. The Down syndrome screening performance using these facial ultrasound markers was evaluated. Results In total, 340 euploid fetuses and 11 fetuses with Down syndrome met the inclusion criteria. The PT, NBL, and PT/NBL ratios in the euploid fetuses gradually increased with gestation progression while the NBL/PT ratio gradually decreased between 14–22 weeks’ gestation. The NBL, PT/NBL ratio, and NBL/PT ratio all had 100% sensitivity and PT had 91% sensitivity. These facial markers had 100% negative predictive value for Down syndrome screening in the second trimester. The Bland–Altman analysis showed the intra- and inter-observer variations of PT and NBL had high intraclass correlation coefficients (ICC) in both operators, with ICCs of 0.98 and 0.99 and inter-observer ICCs of 0.99 for both operators. Conclusion The facial ultrasound markers are very useful for second trimester Down syndrome screening in our population. These facial ultrasound markers were easily identifiable and highly consistent either intra- or inter-operator by using widely-available 2D ultrasound. However, the reference ranges for these markers need to be constructed based on individual populations. Trial registration Registration number: REC 61–029-12–3. Date of registration: 18 May 2018.

PRENATAL DIAGNOSIS FOR TRISOMY 21, 18 AND 13 BY QUANTITATIVE FLUORESCENT POLYMERASE CHAIN REACTION AMONG PREGNANT WOMEN WITH HIGH RISK

2018 ◽  
Vol 8 (4) ◽  
pp. 88-95
Author(s):  
Thi Ha Thi Minh ◽  
Nghia Le Trung ◽  
Nhan Nguyen Viet ◽  
Duc Vo Van ◽  
Uyen Le Thanh Nha ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
High Risk ◽  
Pregnant Women ◽  
Trisomy 21 ◽  
Maternal Age ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Trisomy 18 ◽  
Trisomy 13 ◽  
Β Hcg

Introduction: Prenatal diagnosis of trisomy 21, 18 and 13 plays a very important role in the improving population quality. This study was aimed at (1) Identifying the prevalence of trisomy 21, 18 and 13 by QFPCR from amniotic cells of high-risk pregnancies; and (2) Evaluating the association between diagnosed trisomies and some characteristics of mother and fetus. Objectives and methods: 170 pregnant women with high risk of having trisomy 21, 18 or 13 fetuses during first trimester screening (gestation age from 11 weeks to 13 weeks 6 days). DNA was extracted from amniocytes for prenatal diagnosis using QF-PCR. Results: The prevalence of trisomies was 9.4%, among which trisomy 21 and trisomy 18 accounted for 68.8% and 31.2%, respectively; none of them was trisomy 13. There was the significant association between diagnosed trisomies and maternal age (cut-off 30.5 years old) and nuchal translucency thickness (cut-off 1.95 mm). MoM median of free β-hCG increased in trisomy 21 group (4.35, p = 0.021) and decreased in trisomy 18 group (0.13, p < 0.001) as compared to the non-trisomy group (2.28). MoM median of serum PAPP-A decreased in trisomy 18 group (0.14, p = 0.004) as compared to the non-trisomy group (0.54). Conclusion: Prenatal diagnosis by QF-PCR detected remarkable prevalence of fetuses with trisomy 21 và 18. There was the significant association between diagnosed trisomies and maternal age, nuchal translucency thickness, free β-hCG and serum PAPP-A. Key words: prenatal diagnosis, trisomy, QF-PCR

Significance of the routine first-trimester antenatal screening program for aneuploidy in the assessment of the risk of placenta accreta spectrum disorders

2019 ◽  
Vol 48 (1) ◽  
pp. 21-26
Author(s):  
Grigory A. Penzhoyan ◽  
Tatiana B. Makukhina
Keyword(s):  
High Risk ◽  
Blood Loss ◽  
Pregnant Women ◽  
Placenta Accreta ◽  
Screening Program ◽  
First Trimester ◽  
Significant Difference ◽  
Placenta Accreta Spectrum ◽  
Spectrum Disorders ◽  
Β Hcg

AbstractObjectiveTo select a group at high risk of placenta accreta spectrum disorders (PAS) based on the data of serum screening in the first trimester.MethodsA retrospective analysis of 48 patients with abnormal placental location (AP), including placenta previa (PP) only (n = 23) and PP and PAS (n = 25), was performed. Additionally, the AP group was divided depending on the blood loss volume: not higher than 1000 mL (LBL) (n = 29) and higher than 1000 mL (HBL) (n = 19); diagnostic term of PAS by ultrasound, data pregnancy-associated plasma protein-A (РAРР-A) and free β subunit of human chorionic gonadotropin (free β-hCG) multiple of median (MоM) at 11+0–13+6 weeks of gestation were evaluated. Serological markers were compared with the data of 39 healthy pregnant women with scar after previous cesarean section and normal placental location (control).ResultsThe mean gestation at diagnostic term of PAS was 29 weeks. PAPP-Р MоM [mean (M) ± standard deviation (SD)] was: in controls, 1.07 ± 0.47; in the AP group, 1.59 ± 0.24; in PP, 1.91 ± 1.52; in PAS, 1.30 ± 0.85; in LBL, 1.37 ± 1.20; in HBL, 1.91 ± 1.24. The difference between control/AP, control/PP, control/PAS, PP/PAS, control/LBL, control/HBL and LBL/HBL was Р = 0.256, 0.145, 0.640, 0.311, 0.954, 0.025 and 0.09, respectively. Free β-hCG MoM (M ± SD) was: in controls, 1.08 ± 0.69, in AP, 1.31 ± 0.96; in PP, 1.46 ± 0.19; in PAS, 1.16 ± 0.65; in LBL, 1.30 ± 0.06; in HBL, 1.32 ± 0.78. Comparison of free β-hCG AP with controls and between subgroups did not reveal a significant difference.ConclusionUnderestimation of PAS risk factors in pregnant women with AP leads to late diagnostics of pathology only in the third trimester. The assessment of the РAРР-A level in the first trimester may be helpful for the early prognosis of pathological blood loss at delivery for pregnant women with AP and for forming the high-risk group for PAS.

Dual and multiple trisomies: analysis of 38 cases from 13 thousand karyotyped embryos and fetuses

2017 ◽  
pp. 109-115
Author(s):  
N.P. Veropotvelyan ◽  
Keyword(s):  
Prenatal Diagnosis ◽  
High Risk ◽  
Pregnant Women ◽  
Maternal Age ◽  
Chromosomal Abnormalities ◽  
Chorionic Villus ◽  
Primary Group ◽  
Chorionic Villus Sampling ◽  
Missed Abortion ◽  
Reproductive Losses

The study presents data of different authors, as well as its own data on the frequency of multiple trisomies among the early reproductive losses in the I trimester of pregnancy and live fetuses in pregnant women at high risk of chromosomal abnormalities (CA) in I and II trimesters of gestation. The objective: determining the frequency of occurrence of double (DT) and multiple trisomies (MT) among the early reproductive losses in the I trimester of pregnancy and live fetuses in pregnant women at high risk of occurrence of HA in I and II trimesters of gestation; establishment of the most common combinations of diesel fuel and the timing of their deaths compared with single regular trisomy; comparative assessment materinskogo age with single, double and multiple trisomies. Patients and methods. During the period from 1997 to 2016, the first (primary) group of products in 1808 the concept of missed abortion (ST) of I trimester was formed from women who live in Dnepropetrovsk, Zaporozhye, Kirovograd, Cherkasy, Kherson, Mykolaiv regions. The average term of the ST was 8±3 weeks. The average age of women was 29±2 years. The second group (control) consisted of 1572 sample product concepts received during medical abortion in women (mostly residents of Krivoy Rog) in the period of 5-11 weeks of pregnancy, the average age was 32 years. The third group was made prenatally karyotyped fruits (n = 9689) pregnant women with high risk of HA of the above regions of Ukraine, directed the Centre to invasive prenatal diagnosis for individual indications: maternal age, changes in the fetus by ultrasound (characteristic malformations and echo markers HA) and high risk of HA on the results of the combined prenatal screening I and II trimesters. From 11 th to 14 th week of pregnancy, chorionic villus sampling was performed (n=1329), with the 16th week – platsentotsentez (n=2240), 18 th and 24 th week – amniocentesis (n=6120). Results. A comparative evaluation of maternal age and the prevalence anembriony among multiple trisomies. Analyzed 13,069 karyotyped embryonic and fetal I-II trimester of which have found 40 cases of multiple trisomies – 31 cases in the group in 1808 missed abortion (2.84% of total HA), 3 cases including 1 572 induced medabortov and 7 cases during 9689 prenatal research (0.51% of HA). Determined to share the double trisomies preembrionalny, fetal, early, middle and late periods of fetal development. Conclusion. There were no significant differences either in terms of destruction of single and multiple trisomies or in maternal age or in fractions anembrionalnyh pregnancies in these groups. Key words: multiple trisomies, double trisomy, missed abortion, prenatal diagnosis.

scholarly journals Cohort profile: targeted antenatal screening for haemoglobinopathies in Basel

BMJ Open ◽  
2020 ◽  
Vol 10 (7) ◽  
pp. e035735
Author(s):  
Gabriela Amstad Bencaiova ◽  
Franziska Geissler ◽  
Irene Hoesli
Keyword(s):  
High Risk ◽  
Pregnant Women ◽  
Risk Group ◽  
Iron Status ◽  
First Trimester ◽  
High Risk Group ◽  
University Hospital ◽  
Pregnancy Cohort ◽  
Haemoglobin Variant ◽  
Adverse Pregnancy

PurposeThe pregnancy cohort was established to examine the prevalence and variety of haemoglobinopathies in a high-risk group of pregnant women.ParticipantsThe pregnancy cohort is located in the Department of Obstetrics and Antenatal Care, University Hospital of Basel. The pregnant women were recruited in the first trimester between June 2015 and May 2019. Family origin questionnaires were used to screen pregnant women for the risk of a haemoglobin variant. Based on the questionnaire, pregnant women were divided into two groups: women with a high risk and women with a low risk of a haemoglobin variant. In women with a high risk, red blood cell indices, iron status and chromatography were conducted.Findings to date1785 pregnant women were recruited. Out of the 1785 women, 929 were identified as a part of the high-risk group. Due to the missing data of 74 pregnant women with a high risk, the final analysis was conducted in the remaining 855 women. The prevalence of haemoglobinopathies in the high-risk group was 14.5% (124/855).Future plansThis cohort will be used to: (1) implement the screening in prenatal care in Basel; (2) recommend the screening among pregnant women with a high risk of a haemoglobin variant in Switzerland; (3) improve prenatal and neonatal care in patients with a haemoglobin variant; (4) examine adverse pregnancy outcomes in women with a haemoglobin variant and (5) reduce maternal and neonatal morbidity and mortality in the future.Trial registration numberClinicalTrials.gov Registry (NCT04029142).

Features of the sexual life during pregnancy

2012 ◽  
Vol 19 (2) ◽  
pp. 67-74 ◽  
Author(s):  
Jelena ISAJEVA ◽  
Mindaugas ŠILKŪNAS ◽  
Gražina Stanislava DRĄSUTIENĖ ◽  
Daiva BARTKEVIČIENĖ
Keyword(s):  
High Risk ◽  
Adverse Effects ◽  
Pregnant Women ◽  
Sexual Intercourse ◽  
Pregnancy Outcomes ◽  
First Trimester ◽  
Education Level ◽  
Active Group ◽  
Sexual Life ◽  
Sexually Active

Background. The aim of our study was to evaluate Vilnius and Vilnius Region women’s knowledge about sexual intercourse during pregnancy. Materials and methods. The study included 94 women who were in the Center Affiliate of VUH Santariskiu Clinics after delivery. The women were interviewed using a questionnaire. They were divided in three groups by levels of education. Results. The study showed that 83% of pregnant women had sexual intercourse during pregnancy. 55.1% had coitus several times a month. The first trimester was the most frequent period of sexual intercourse (52.6%). 22.6% of pregnant women were at high risk of miscarriage and 61.9% of them have had sexual intercourse. The frequency of miscarriage in the sexually active group was 17.9% and in the non-active group it was 50% (p < 0.05). All women who reported frequent sexual intercourse were not at threat for miscarriage compared to incidence of miscarriage of those 13 (22%) women who reported infrequent intercourse (p = 0.019). 79.8% of pregnant women were concerned about the adverse effects of sexual intercourse on pregnancy outcomes. 20.2% of the women thought that intercourse during pregnancy was safe. 63.8% of pregnant women were not asked by doctors during pregnancy about their sexual life. Conclusions. The majority (79.8%) of pregnant women were concerned about the adverse effects of sexual intercourse on pregnancy outcomes but even 83% of pregnant women had sexual intercourse during pregnancy. There were no statistical differences between women with different education level. Pregnant women were rarely asked by doctors about their sexual life.

Performance of free β-human chorionic gonadotrophin (free β-hCG) and pregnancy associated plasma protein-A (PAPP-A) analysis between Delfia Xpress and AutoDelfia systems in The Netherlands

2009 ◽  
Vol 47 (2) ◽  
Author(s):  
Ingeborg H. Linskens ◽  
Marieke Levitus ◽  
Anneke Frans ◽  
Peter C.J.I. Schielen ◽  
John M.G. van Vugt ◽  
...  
Keyword(s):  
The Netherlands ◽  
Plasma Protein ◽  
Screening Program ◽  
Medical Center ◽  
Protein A ◽  
First Trimester ◽  
Chorionic Gonadotrophin ◽  
Human Chorionic Gonadotrophin ◽  
Serum Samples ◽  
Β Hcg

Abstract: The VU University Medical Center (VUmc) was the first hospital in the Netherlands to introduce the Delfia Xpress for the analysis of free β-human chorionic gonadotrophin (β-hCG) and pregnancy associated plasma protein-A (PAPP-A) in the first trimester screening program for Down syndrome. Since then, others have implemented this system. In this study, we tested the equality of measurements for free β-hCG and PAPP-A between Delfia Xpress systems and one AutoDelfia system.: A total of 40 serum samples were aliquoted and stored at –20°C. Samples were analyzed by six Delfia Xpress systems and one AutoDelfia system over a time period of 2 years.: The relationships between free β-hCG and PAPP-A were excellent for the different Delfia Xpress systems (r>0.99, p<0.0001). For PAPP-A, the agreement between the main system at VUmc and five other systems was linear with slopes between 0.99 and 1.06. Similarly, agreement for free β-hCG was linear with slopes between 0.99 and 1.09. Likewise, agreement for PAPP-A and free β-hCG was excellent for the AutoDelfia vs. the main Delfia Xpress at the VUmc (r>0.99, p<0.0001). For both PAPP-A and free β-hCG, the relationships were linear with slopes of 1.08 and 1.07.: We demonstrate an excellent agreement for the analysis of PAPP-A and free β-hCG between Delfia Xpress systems and one AutoDelfia system.Clin Chem Lab Med 2009;47:222–6.

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