scholarly journals Epidemiological Aspects, Prenatal Screening and Diagnosis of Congenital Heart Defects in Beijing

2021 ◽  
Vol 8 ◽  
Author(s):  
Yanchun Zhang ◽  
Wen Zhang ◽  
Hongyan Xu ◽  
Kaibo Liu
Keyword(s):  
Risk Factors ◽  
Prenatal Diagnosis ◽  
Birth Defect ◽  
Maternal Age ◽  
Congenital Heart ◽  
Prenatal Screening ◽  
Chromosomal Abnormalities ◽  
Prenatal Ultrasound ◽  
Ultrasound Screening ◽  
High Risk Factors

Background: In China, congenital heart disease (CHD) is the most common birth defect type, with approximately 13,000 new cases annually. This study aimed to investigate high-risk factors, prenatal screening and prenatal diagnosis as a basis for clinical decisions.Methods: All CHD cases identified from 2018 to 2020 were obtained from the Beijing city birth defect surveillance system and prenatal diagnosis institutions. The prenatal CHD diagnosis was confirmed by fetal echocardiography and amniotic fluid or cord blood genetic examination. Chi-square, odds ratio (OR), 95% confidence interval (CI), and univariate and multivariate logistic analyses were used to explore the high-risk factors, prenatal screening and prenatal diagnosis of CHD. Results: In total, 6,786/594,860 fetuses with CHD were diagnosed by prenatal echocardiography. The average incidence of CHD was 11.4 per 1,000 births, with an increase of 30.7 per 1,000 births from 2018 to 2020 (P < 0.05); the average incidence of complex CHD (CCHD) was 2.02 per 1,000 births, with no significant change from 2018 to 2020 (P > 0.05). Women age ≥35 years (OR 1.06, 95% CI 0.77–1.46) was at higher risk of having babies with CHD than women aged 21–34 years. Overall, CHD incidence increased with maternal age (OR1.03, 95% CI 1.02–1.03). Additionally, women who had a non-local household registration (OR 1.16, 95% CI 1.10–1.22) or had diabetes mellitus (DM) (OR 1.16, 95% CI 0.96–1.25) were at higher risk of CHD. As an independent factor, CCHD was related to maternal age, DM, fetal gender, and maternal education level (all P < 0.05). The prenatal ultrasound screening detection rate of CCHD was 97.59%, which was far higher than that of total CHD (51.67%) (P < 0.001). The prenatal ultrasound diagnosis rate of CCHD was higher than that of simple CHD (P < 0.001), but the coincidence rate in the ultrasound diagnosis of CCHD was lower than that of simple CHD (P < 0.001). Prenatal genetic testing revealed chromosomal abnormalities in 25.62% (279/1089) of CHD cases with indications for a prenatal diagnosis.Conclusions: Maternal age, household registration and DM were related to CHD occurrence. Prenatal ultrasound screening is a highly effective method for CCHD diagnosis, and CHD fetuses should be closely evaluated to exclude chromosomal abnormalities.

scholarly journals Ultrasound screening program for chromosomal abnormalities: The first 2000 women

2007 ◽  
Vol 60 (1-2) ◽  
pp. 66-70 ◽  
Author(s):  
Aleksandra Novakov-Mikic ◽  
Zoran Potic ◽  
Aleksandra Pjevic
Keyword(s):  
Trisomy 21 ◽  
Maternal Age ◽  
Prenatal Screening ◽  
Chromosomal Abnormalities ◽  
Screening Program ◽  
False Negative ◽  
Nuchal Translucency ◽  
External Control ◽  
Ultrasound Screening ◽  
Novi Sad

Introduction Screening for chromosomal abnormalities identifies the group of women at higher risk for having a fetus with chromosomal abnormalities and the need for fetal karyotyping. In order to provide high quality screening, strict criteria for certification of operators are introduced, issued by the Fetal Medicine Foundation (FMF), which enables annual external control of results. The aim of this study was to review the results of five-year prenatal screening for chromosomal abnormalities in Novi Sad, Serbia. Material and methods Ultrasound screening at 11-15 weeks gestation was performed, assessing fetal morphology, crowner-rump length and nuchal translucency (NT) according to the FMF guidelines. Risk for chromosomal abnormalities included the initial risk, based on maternal age, gestational age and anamnestic data, and corrected risk, which took into account the initial risk and the value of the nuchal translucency. The corrected risk was issued by the computer program issued by the FMF. Results During the period 1999 - 2004, 4580 pregnant women were scanned. The risk for chromosomal abnormality was calculated using the FMF program in 2245 cases and the outcome was known in 1406 cases. The majority of women were between 25 and 29 years of age (37%), and 12% were older than 35 years. NT was below the median in 43% of cases and above in 57%, 3.7% of cases were above the 95th centile. 89% of women were younger than 35, and the risk was reduced in 97% of cases. There were three false negative cases. In 3% of women from this group the risk was increased, out of which there were five cases of trisomy 21 and two terminations were done due to major anomalies. In the group of women over 35 years, the risk was reduced in 95% of cases and in all of them but two the karyotype was normal. In one of the two cases there was a large omphalocele and the karyotype was trisomy 18, and in the other fetus appeared normal, but after amniocentesis due to maternal anxiety, karyotype was 47, XYY. In 5% of women at higher risk there was one trisomy 21, bilateral multicystic kidneys were found in one case as well as one hydrocephalus. Conclusion Combined screening by maternal age and nuchal translucency is superior to screening by maternal age only - (sensitivity 66% vs 20%, false postive results 3% vs 15%, area under ROC 0.90 vs 0.69).

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 Study of Risk Factors for Conegnital Heart Defect in a Tertiary Level Hospital

2018 ◽  
Vol 27 (1) ◽  
pp. 51-56
Author(s):  
Ferdousi Hossain Poly ◽  
Syeda Afroza ◽  
Hasanur Rahman ◽  
Md Imran Hassan
Keyword(s):  
Diabetes Mellitus ◽  
Risk Factors ◽  
Gestational Diabetes ◽  
Gestational Diabetes Mellitus ◽  
Maternal Age ◽  
Congenital Heart ◽  
Heart Defects ◽  
Medical College ◽  
History Of ◽  
The Difference

A congenital heart defect is a heart problem which is present at birth, caused by improper development of the heart during fetal development. In majority of cases there is no known reason for the heart to develop improperly. Some type of congenital heart defects are related to chromosomal abnormality(5-6%), some are to single gene defect(3-5%) or environmental factors(2%). In 85-90% of cases there is no identifiable cause and are generally considered to be caused by multifactorial inheritance. There are some maternal factors which have some role in cardiovascular malformations. These include high maternal age(above 30 years), maternal obesity, consanguinity among the parents, fever during pregnancy, gestational diabetes mellitus, smoking, alcohol consumption, ingestion of any teratogenic drug including homeopathy and herbal medicine. Objective of the study: To evaluate the risk factors associated with congenital heart disease. Methodology: A case control study was conducted at paediatric department of Sir Salimullah Medical College & Mitford Hospital following approval of the protocol from 1st January 2013 to 30th June 2014. Children fulfilling the inclusion criteria-(0-5 year old children of both sexes admitted in paediatric units of Mitford Hospital with any type of congenital heart disease confirmed by echocardiography) were considered as cases. A similar number of age and sex matched children admitted in Mitford Hospital without any cardiac defect were considered as controls. Data were collected by questionnaire. Results: The results show that majority of the cases are male. Maternal age (27.09 ± 4.63) and BMI (24.10 ± 2.28) both are significantly higher in cases than those of controls. Among the cases 31.8% mothers had consanguineous marriage (p=0.001) and 27.1% mothers had history of fever during pregnancy whereas it was present in 9.3% mothers of controls, the difference is significant statistically (p=0.001). Among the cases 34.6% mothers had history of gestational diabetes mellitus and only 18.9% controls had so and the difference is significant statistically (p=0.014). Conclusion: Relatively old age and more weight during pregnancy, consanguinity between parents, fever during pregnancy, history of gestational diabetes mellitus are the main risk factors of congenital heart defects in children J Dhaka Medical College, Vol. 27, No.1, April, 2018, Page 51-56

scholarly journals Follow-up in Patients With Non-invasive Prenatal Screening Failures: A Reflection on the Choice of Further Prenatal Diagnosis

2021 ◽  
Vol 12 ◽  
Author(s):  
Sha Liu ◽  
Hongqian Liu ◽  
Jianlong Liu ◽  
Ting Bai ◽  
Xiaosha Jing ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Prenatal Diagnosis ◽  
Pregnant Women ◽  
Prenatal Screening ◽  
Chromosomal Abnormalities ◽  
Detection Methods ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Non Invasive

BackgroundOur aim was to provide a theoretical basis for clinicians to conduct genetic counseling and choose further prenatal diagnosis methods for pregnant women who failed non-invasive prenatal screening (NIPS).MethodsA retrospective analysis was performed on pregnant women who had failed NIPS tests.ResultsAmong the 123,291 samples, 394 pregnant women did not obtain valid results due to test failures. A total of 378 pregnant women were available for follow-up, while 16 patients were lost to follow-up. Of these 378, 135 pregnant women chose further prenatal diagnosis through amniocentesis, and one case of dysplasia was recalled for postpartum chromosome testing. The incidence rate of congenital chromosomal abnormalities in those who failed the NIPS was 3.97% (15/378), which was higher than that of the chromosomal abnormalities in the common population (1.8%). Among the pregnant women who received prenatal diagnosis, the positive rates of chromosomal abnormalities in the chromosomal microarray analysis/copy number variation sequencing (CMA/CNV-seq) group and in the karyotyping group were 15.28 and 4.76%, respectively.ConclusionPrenatal diagnosis should be strongly recommended in posttest genetic counseling for pregnant women with NIPS failures. Further, high-resolution detection methods should be recommended for additional prenatal diagnoses.

Fetal analysis with invasive method (FA-I) and fetal analysis with non-invasive method (FA-NI): replacing current, deceptively imprecise clinical nomenclature

2017 ◽  
Vol 45 (8) ◽  
Author(s):  
Frank A. Chervenak ◽  
Laurence B. McCullough ◽  
Joachim Dudenhausen
Keyword(s):  
Prenatal Diagnosis ◽  
Informed Consent ◽  
Prenatal Screening ◽  
Prenatal Testing ◽  
Informed Consent Process ◽  
Ease Of Use ◽  
Ultrasound Screening ◽  
Non Invasive ◽  
Invasive Method ◽  
Ultrasound Testing

AbstractThere is a problem with the current nomenclature of prenatal evaluation. The current nomenclature of “prenatal testing” and “prenatal screening” – along with their subsets of “ultrasound testing,” “ultrasound screening,” “non-invasive prenatal testing,” “non-invasive prenatal screening,” and “prenatal diagnosis” – has become so imprecise that clinical misinterpretation and distortion of the informed consent process are increasingly difficult to avoid. To remedy this problem, we propose a new, precise nomenclature: “fetal analysis with invasive method” (FA-I) and “fetal analysis with non-invasive method,” (FANI) using various techniques. This new nomenclature is designed to be precise and therefore facilitate effective communication among physicians and with pregnant women. For ease of use the new nomenclature can be formulated as an abbreviation: FA-I and FA-NI.

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