scholarly journals THE EFFICIENCY OF DIAGNOSIS AND TREATMENT OF CONGENITAL MALFORMATIONS IN ST. PETERSBURG OVER 2006-2015

2019 ◽  
Vol 20 (4) ◽  
pp. 214-217 ◽  
Author(s):  
Anatoliy S. Simakhodskiy ◽  
O. P. Romanenko
Keyword(s):  
Quality Control ◽  
Genetic Counseling ◽  
Prenatal Diagnosis ◽  
Mortality Rate ◽  
Congenital Malformations ◽  
Prenatal Screening ◽  
Diagnosis And Treatment ◽  
Causal Factors ◽  
Infant And Child Mortality ◽  
Child Mortality Rate

The dynamics of indices of diagnosis and treatment of congenital malformations (CM) in St. Petersburg for 2006-2015 is presented. CM were reveal to retain a high specific gravity and rank structure as causal factors of the infant and child mortality rate, which requires the inclusion of prenatal diagnosis in the quality control of medical care provided by insurance medical organizations. CM were established to account of about 30% in the structure of infant mortality. The authors believe that preventive education of future parents, preconceptional genetic counseling, full coverage of prenatal screening of pregnant women and active work of ethical commissions, will reduce the frequency of births of children with CM.

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.

Congenital malformations in 10,000 consecutive births in a university hospital: Need for genetic counseling and prenatal diagnosis

1984 ◽  
Vol 104 (3) ◽  
pp. 386-390 ◽  
Author(s):  
N. Van Regemorter ◽  
J. Dodion ◽  
C. Druart ◽  
F. Hayez ◽  
E. Vamos ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Prenatal Diagnosis ◽  
Congenital Malformations ◽  
University Hospital

scholarly journals Knowledge, attitudes and beliefs of women in the reproductive age towards prenatal screening for congenital malformations, Alexandria-Egypt

2017 ◽  
Vol 6 (5) ◽  
pp. 1707
Author(s):  
Rehab Elsaid Nour Eldin Youssef ◽  
Heba Taha El-Weshahi ◽  
Mona Hamdy Ashry
Keyword(s):  
Prenatal Diagnosis ◽  
Congenital Malformations ◽  
Positive Attitude ◽  
Prenatal Screening ◽  
Termination Of Pregnancy ◽  
Reproductive Age ◽  
Screening Tests ◽  
Knowledge And Beliefs ◽  
Positive Attitudes ◽  
Perceived Seriousness

Background: The study was conducted to explore the Egyptian women’s attitudes toward the prenatal screening (PNS) for congenital malformations and termination of pregnancy if medically indicated and assessing their knowledge and beliefs regarding prenatal screening.Methods: A total of 351 Egyptian women in the reproductive age giving birth to at least one child completed a structured questionnaire to assess their knowledge of prenatal diagnosis and their willingness to undergo prenatal screening as well as their opinions on termination of pregnancy if medically indicated. Women's beliefs were also assessed.Results: More than half of studied women (52.71%) are lacking knowledge about the availability of the accurate tests for prenatal screening of congenital malformations. After giving information about PNS, more than three quarters (77.5%) of the studied women held positive attitudes toward the prenatal screening for congenital malformations. The other one quarter was either refusing or not sure about their opinion (4.6% and 17.9% respectively). Only 58.7% accepting termination of pregnancy if medically indicated. Positive attitude towards PNS was significantly higher among females with older age (P=0.019) as well as those of higher social class as indicated by higher level of education (p=0.026), urban residency (p=0.046) and working women (p=0.005). Perceived seriousness of congenital malformations and believing in the importance of early detection of such condition were the significant motives to undergo PNS.Conclusions: There is marked lack of knowledge about the prenatal screening tests among the studied women. After giving information about PNS, most of them shows a positive attitude towards carrying out these tests and about half of them reported their acceptance for termination of pregnancy if medically indicated based on prenatal diagnosis of sever congenital malformations. Emphasis national needs for health education programs about PNS importance and development of well-structured national program for PNS.

scholarly journals Mother’s Health-seeking Behaviour and Childhood Mortality in Pakistan

1996 ◽  
Vol 35 (4II) ◽  
pp. 719-731 ◽  
Author(s):  
Ghulam Mustafa Zahid
Keyword(s):  
Health Care ◽  
Mortality Rate ◽  
Child Mortality ◽  
Child Survival ◽  
Educational Status ◽  
Childhood Mortality ◽  
Health Seeking Behaviour ◽  
Health Seeking ◽  
Infant And Child Mortality ◽  
Child Mortality Rate

The paper examines the Mother’s Health-seeking Behaviour and Childhood Mortality in Pakistan. This is based on the 1990-91 Pakistan Demographic and Health Survey (PDHS), a nationally representative survey covering all four provinces of the country. It was found that neonatal, infant, and child mortality rate is the highest among children of mothers aged less than 20 years. Infant and Child mortality rate is likewise higher among first and higher order births than among births of second or third order. It has further found that mortality declines as the length of the birth interval increases. The results reveal that the education of mother has significant effect on the neonatal, infant and child survival, as mother’s education increases the chances of survival of neonatal, infant and child also increases. Health care factors such as antenatal care, place of delivery, assistance at delivery and immunisation also influenced neonatal, infant and child mortality. The paper suggests that for the improvement of the health conditions of children in Pakistan, first, it is necessary that the educational status of the population in general, and of mothers in particular, should be improved, and second, the health services should be accessible and available for the promotion of health care practices.

Trends in early prenatal screening for chromosomal abnormalities and congenital malformations in Russia in 2018

2020 ◽  
pp. 76-78
Author(s):  
Е.А. Калашникова ◽  
Е.Н. Андреева ◽  
П.А. Голошубов ◽  
Н.О. Одегова ◽  
Е.В. Юдина ◽  
...  
Keyword(s):  
Reference Values ◽  
Congenital Malformations ◽  
Prenatal Screening ◽  
Chromosomal Abnormalities ◽  
First Trimester ◽  
First Trimester Screening ◽  
Trimester Screening ◽  
Overall Effectiveness ◽  
Regions Of Russia

В ходе анализа результатов раннего пренатального скрининга (РПС) в России за 2018 г. (Аудит-2019) дана оценка качества мероприятий, общей эффективности и тенденций развития системы РПС в субъектах РФ посредством сравнения рассчитанных основных организационных, методологических и интегральных показателей с международными референтными значениями. In the course of analyzing the results of early prenatal combined first-trimester screening (FTS) in Russia for 2018 (Audit-2019) the assessment of the quality of measures, the overall effectiveness and trends in the development of the FTS system in the regions of Russia. They are presented by comparing the calculated main organizational, methodological and integral indicators with international reference values.

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