scholarly journals Sonography Markers of Chromosomal Abnormality in Second Trimester

2010 ◽  
Vol 4 (4) ◽  
pp. 337-347
Author(s):  
Jayprakash Shah
Keyword(s):  
Diagnostic Tool ◽  
Chromosomal Abnormality ◽  
Biochemical Markers ◽  
Maternal Age ◽  
Chromosomal Abnormalities ◽  
Invasive Procedure ◽  
Prenatal Period ◽  
Second Trimester ◽  
Good Tool

ABSTRACT Maternal age is increasing in today's world of professional carrier of women. As we know with aging of ova chromosomal abnormalities in fetus are rising. Karyotype is the final diagnostic tool for the confirmation, but it is associated with risk of abortion with the invasive procedure required for it. Sonography markers can be a good tool along with biochemical markers to reduce this risk with better pick rate of chromosomal abnormalities during prenatal period.

5-Year review on amniocentesis and its maternal fetal complications

2019 ◽  
Vol 40 (2) ◽  
Author(s):  
Fauziah Jummaat ◽  
Shuhaila Ahmad ◽  
Nor Azlin Mohamed Ismail
Keyword(s):  
Retrospective Study ◽  
Maternal Age ◽  
Invasive Procedure ◽  
Intrauterine Death ◽  
Safe Procedure ◽  
Second Trimester ◽  
Fetal Ultrasonography ◽  
Patau Syndrome ◽  
Increased Risk ◽  
Fetal Complications

Abstract Background Amniocentesis is a well-known invasive procedure which is commonly carried out in the second trimester. The indication for amniocentesis varies throughout countries and centers. Despite providing significant prenatal diagnosis; many maternal and fetal complications have been reported from previous studies. Materials and methods This retrospective study aimed to determine the maternal and fetal complications following amniocentesis. This study involved all patients who underwent amniocentesis from January 2012 until June 2017 in a tertiary centre. Maternal age, parity, premorbid medical conditions, amniocentesis indications, gestational age during amniocentesis, karyotyping results, complications during and post procedure and the fetal outcomes were reviewed and analyzed. Results One hundred and fourteen patients’ medical records were reviewed and the majority of patients (50.9%) ranged in age from age 30 to 39 years old with mean age of 34.29 years. Amniocentesis was performed during the second trimester in the majority of patients (71.1%). The indications for amniocentesis in this study were polyhydramnios (7.9%), advanced maternal age (9.6%), risk of Down’s syndrome (31.6%), increased risk of Patau syndrome (6.1%), increased risk of Edward’s syndrome (4.4%) and abnormal fetal ultrasonography (70.2%). Cytogenetics results of amniocentesis were normal in 82 patients (71.9%). The majority of patients (86.0%) had no complications. Two patients (12.5%) had intrauterine death presumed to be procedural related. Conclusion This 5-year retrospective study on amniocentesis procedure showed that the majority of amniocentesis were safe as 86.0% of the patients were free from any complications. Anticipating its complication is important as there is always a risk even though it is a safe procedure in general.

The Relationship between Prenatal Diagnosis Indications and Abnormal Chromosomal Karyotypes: A retrospective cohort of 4646 cases in Beijing from 2012-2019

2021 ◽  
Vol 21 ◽  
Author(s):  
Xiaoting Liu ◽  
Wenling Zhang ◽  
Liwen Zhang ◽  
Ying Ma ◽  
Zhiying Gao ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Pregnant Women ◽  
Chromosomal Abnormality ◽  
Maternal Age ◽  
Chromosomal Abnormalities ◽  
Medical Center ◽  
Maternal Serum Screening ◽  
Abnormal Karyotype ◽  
Significant Difference ◽  
The Relationship

Background and Objective: Chromosomal abnormalities are genetic disorders caused by abnormal chromosome number or structure and can endanger multiple organs, morphology, and function of the systems. This study aims to investigate the relationship between prenatal diagnosis indications and abnormal karyotypes to improve prenatal screening. Methods: The karyotype analyses were carried out on 4646 pregnant women with prenatal diagnosis indications referred to the first medical center of Chinese PLA General Hospital from 2012 to 2019. The incidence, distribution, and statistical features of chromosomal abnormality of different prenatal diagnosis indications were analyzed, and the relationships with the prenatal diagnosis indications were assessed. Results: A total of 351 fetal chromosomal abnormalities were detected in 4646 karyotypes analysis, with an incidence of 7.6%. The chromosomal abnormality incidence in the single indication group, two indications group, and three indications group was respectively 5.8%, 16.1%, and 70.0%, indicating a statistically significant difference (p<0.05). Advanced maternal age (AMA), high-risk maternal serum screening (MSS), and noninvasive prenatal DNA testing (NIPT) were the important indications for predicting abnormal karyotype. The number of prenatal diagnosis indications was highly correlated with fetal chromosomal abnormalities. The overall incidence of chromosomal abnormalities showed a tendency to increase with age. The incidence of Trisomy 21 was 3.2%, accounting for 42.5% of all chromosomal abnormalities, and the incidence tended to increase with maternal age. Conclusion: Prenatal karyotype analysis of pregnant women with prenatal diagnosis indications can effectively prevent the birth of defective children. AMA, MSS and NIPT were the important indications for predicting abnormal karyotype. In addition, the number of prenatal diagnosis indications is high correlated with chromosomal abnormalities.

ASSESSMENT OF ANATOMICAL & FUNCTIONAL SUCCESS IN EXTERNAL DACRYOCYSTORHINOSTOMY BY AIR BUBBLE TEST

2019 ◽  
Vol 3 (9) ◽  
Author(s):  
Dr. Vikas Tantuway
Keyword(s):  
Case Series ◽  
Invasive Procedure ◽  
Nasolacrimal Duct ◽  
Good Tool ◽  
Predictive Values ◽  
Reliability Indices ◽  
Air Bubble ◽  
Bubble Test ◽  
External Dacryocystorhinostomy ◽  
Anatomical Success

Aim: To assess reliability indices of Air Bubble Test (ABT) for anatomical and functional success in external Dacryocystorhinostomy (DCR). Methods: Prospective case series of nasolacrimal duct obstruction underwent DCR. Functional success defined as Munk score 0 & 1 & anatomical success as free irrigation at followup.ABT performed by putting antibiotic drops into eye& asking patient to exhale while keeping nose & mouth closed. Formation of bubbles at punctum considered as positive test. Specificity, sensitivity, positive & negative predictive values calculated. Results: There were 103 DCR in 97 patients(23 male,74 female)with mean age 45.56 yr. Anatomical and functional success was 99.02% & 98.05%, respectively.ABT showed sensitivity 96.07%, specificity 100% for anatomical success after DCR. Sensitivity and specificity were 97.02% & 100% for functional success. Conclusion: As non-invasive procedure ABT is a good tool to assess success of DCR, though lacrimal syringing remains the gold standard. Keywords: Anatomical, Dacryocystorhinostomy & Air Bubble Test.

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.

Does Active Smoking Influence the Second Trimester Biochemical Markers Concentrations?

2017 ◽  
Vol 68 (10) ◽  
pp. 2234-2236
Author(s):  
Dan Navolan ◽  
Florin Birsasteanu ◽  
Adrian Carabineanu ◽  
Octavian Cretu ◽  
Diana Liana Badiu ◽  
...  
Keyword(s):  
Pregnant Woman ◽  
Pregnant Women ◽  
Cigarette Smoke ◽  
Chorionic Gonadotropin ◽  
Reference Values ◽  
Biochemical Markers ◽  
Smoking Status ◽  
Active Smoking ◽  
Second Trimester ◽  
Harmful Effects

Cigarette smoke contains over 7000 different substances some of them exerting harmful effects on embryo and pregnant woman. Nowadays 15 % of adult people and around 10-15% of pregnant women smoke. Previous studies showed that cigarette smoke compounds could exert pharmacodinamic effects and influence some of the second trimester biochemical markers concentration. Therefore there is a need to adjust the reference values of second trimester markers depending of the smoker status. The aim of our study was to analyse which of the markers are influenced by smoking and whether the software used to calculate the risk for aneuploidies is able to counterbalance this influence. Alpha-fetoprotein (AFP), chorionic gonadotropin hormone (hCG) and free estriol (uE3) values were measured in second trimester sera of 1242 pregnant women: 1089 non-smokers and 153 smokers. Only hCG second trimester values were influenced by smoking whereas AFP and uE3 values were not. The correction of medians according to the smoking status was able to counterbalance this effect.

Is there a Need for Own Median Calculation in the Second Trimester Biochemical Markers Screening?

2017 ◽  
Vol 68 (5) ◽  
pp. 1070-1072
Author(s):  
Dan Navolan ◽  
Mirela Nicolov ◽  
Simona Vladareanu ◽  
Ioana Ciohat ◽  
Marius Craina ◽  
...  
Keyword(s):  
Pregnant Women ◽  
Gestational Age ◽  
Biochemical Markers ◽  
Biochemical Marker ◽  
Second Trimester ◽  
Established Method ◽  
Crown Rump Length ◽  
The Difference ◽  
Fetal Aneuploidies ◽  
Singleton Pregnancies

Screening of fetal aneuploidies in early pregnancy is a well-established method in the materno-fetal medicine. The aim of our study was to analyze if the medians recommended by the manufacturers are adequate to perform an accurate screening or if there is a need for own laboratory medians calculation in second trimester biochemical marker screening.Sera were collected between 14 wp and 22 wp from 3374 singleton pregnancies. We analyzed three second trimester biochemical markers (AFP, hCG and free Estriol) concentration in all pregnant women and in a subgroup of pregnant women in which gestational age was determined based on crown-rump length. Our results showed that for all biochemical markers the difference between the manufacturer and the own calculated median was lower than 10% excepting the hCG value in the group of pregnant women in which the gestational age was determined on basis of crown-rump-length. Our results show it is recommended to replace the values of the median for hCG measurement with the own laboratory calculated medians. This does not seem to be necessary in the case of AFP and free Estriol measurement.

scholarly journals Extended embryo culture is effective for patients of an advanced maternal age

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
R. Sainte-Rose ◽  
C. Petit ◽  
L. Dijols ◽  
C. Frapsauce ◽  
F. Guerif
Keyword(s):  
Live Birth ◽  
Embryo Culture ◽  
Maternal Age ◽  
Chromosomal Abnormalities ◽  
Inner Cell Mass ◽  
Cell Mass ◽  
Advanced Maternal Age ◽  
Birth Rates ◽  
Younger Women ◽  
Live Birth Rates

AbstractThe aim of this study was to determine the effectiveness of extended embryo culture in advanced maternal age (AMA) patients (37–43 years). In this retrospective analysis, 21,301 normally fertilized zygotes from 4952 couples were cultured until the blastocyst stage. Blastocyst development, including kinetics and morphology, transfer rate, implantation and live birth rates, were measured. In AMA patients, the blastocyst rate was significantly decreased as compared to that in younger women. On day 5, blastocysts underwent growth retardation in AMA patients, which was highlighted by a decreased rate of full/expanded blastocysts. Organization of the cells (trophectoderm and inner cell mass) was unaffected by age. However, in AMA patients, a ‘good’ morphology blastocyst had a decreased probability to implant compared with an ‘average’ morphology blastocyst in younger women. While the rates of blastocyst transfer and useful blastocysts were similar to younger patients, in AMA patients, both implantation and live birth rates were significantly reduced. Our results support the idea that extended embryo culture is not harmful for AMA patients. However, embryo selection allowed by such culture is not powerful enough to avoid chromosomal abnormalities in the developed blastocysts and therefore cannot compensate for the effect of a woman’s age.

scholarly journals The correlation between maternal age, parity, cardiac diastolic function and occurrence rate of pre-eclampsia

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Dan Zhu ◽  
Weiyu Chen ◽  
Yuchen Pan ◽  
Tingcui Li ◽  
Ming Cui ◽  
...  
Keyword(s):  
Pregnant Women ◽  
Diastolic Function ◽  
Maternal Age ◽  
Left Ventricular ◽  
Occurrence Rate ◽  
Left Ventricular Ejection ◽  
Second Trimester ◽  
Ventricular Ejection Fraction ◽  
Primiparous Women ◽  
Effect Of Age

AbstractTo evaluate the effect of age and parity on maternal cardiac diastolic function in second trimester among pregnant women with normal left ventricular ejection fraction. To analyze the correlation between impaired diastolic function and pre-eclampsia. It had been suggested that maternal cardiac adaptations during pregnancy differed between nulliparous and primiparous women and also varied according to age. Impaired cardiac function may precede pre-eclampsia. Therefore, we examined the effects of parity and age on cardiac diastolic function during pregnancy and whether impaired diastolic function during the second trimester correlates with pre-eclampsia. Women with singleton pregnancies at 13 + 0 to 27 + 6 weeks’ gestation and left ventricular ejection fraction (LVEF) ≥ 50% were retrospectively identified. Diastolic function parameters were assessed using transthoracic echocardiography. Pre-eclampsia was identified from medical records. The effect of age and parity on maternal cardiac diastolic function as well as the correlation between impaired diastolic function and occurrence rate of pre-eclampsia were examined. 376 pregnant women were included (median age: 30 years; median gestational age: 14 weeks; 171 primiparous women). LVEF was 66%. Impaired cardiac diastolic function was seen in 7.8% of pregnant women < 35 years compared with 28.6% of those ≥ 35 years (p = 0.000). ROC curve showed women with maternal age over 32 began to have a higher rate of impaired cardiac diastolic function (AUC = 0.704, p = 0.000, sensitivity = 54.5%, specificity = 75.3%). There was no difference in diastolic function indices between maternal women grouped by parity. Higher maternal age was an independent risk factor of declining Em (p < 0.05). Em < 13 cm/s was significantly associated with pre-eclampsia occurrence (HR 8.56; 95% CI 3.40–21.57) after being adjusted for confounders. Maternal age is an independent risk factor for diastolic function decline. There is no difference in cardiac diastolic function between nulliparous women and primiparous women. Pre-eclampsia occurrence is significantly higher in patients with impaired diastolic function at mid-gestation. The application of risk grading using diastolic function at mid-gestation may improve the survival outcomes of pregnant women.

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