scholarly journals MEDICAL GENETIC COUNSELING OF WOMEN WITH CONGENITAL HEART DISEASES OF FETUS

2019 ◽  
Vol 1 ◽  
pp. 39-47 ◽  
Author(s):  
Yevheniya Sharhorodska ◽  
Nadiya Helner ◽  
Natalia Prokopchuk ◽  
Halyna Makukh
Keyword(s):  
Genetic Counseling ◽  
Prenatal Diagnosis ◽  
Pregnant Women ◽  
Biochemical Markers ◽  
Congenital Heart ◽  
Fetal Heart ◽  
Heart Diseases ◽  
First Trimester ◽  
Congenital Defects ◽  
Medical Genetic

Aim of the work. Determine the effectiveness of prenatal diagnosis of congenital heart defects in the fetus and the informativeness of different markers used in the medical-genetic counseling of pregnant women.. Materials and methods. The analysis of the results of medical genetic counseling of pregnant women with fetal heart diseases was carried out. The effectiveness of using different methods of prenatal diagnosis in 67 pregnant women is estimated. The data of somatic, genealogical and reproductive anamnesis, biochemical markers of chromosomal pathology of the 1st and 2nd trimester of pregnancy, and the spectrum of the detected fetal heart disease were studied. Results of the research. It was found that 46 (68.7 %) women had somatic diseases: pathology of the cardiovascular system (11.9 %); endocrine system - at 8 (11,9 %); respiratory disease – 3 (4.5 %) and urinary system – 2 (3.0 %). 13 (19.4 %) out of 67 women had acute respiratory viral infections in the first trimester of pregnancy. In 4 (6 %) cases - bad habits. The first time pregnant were 31 (46.3 %) women, 21 (31.3 %) – the second time, 10 (14.9 %) in the third, and 5 (7.5 %) in the fourth or more times. In history, 58 (86.6 %) women did not have reproductive function disorders, 8 (11.9 %) had unauthorized miscarriages and frozen pregnancy. The burden of gynecological anamnesis was observed in 12 (17.9 %) women, and hereditary - in 6 (9.0 %) women. In the structure of congenital defects of the heart, false anatomical anomalies were found more often: hypoplasia of the left heart organs – 14 (20.9 %), tetralogy of Fallot - 9 (13.3 %). Biochemical markers of chromosomal pathology in the first trimester in 11 (16.4 %) women recorded indicators that are characteristic of the risk of chromosomal pathology, and in the second trimester – in 9 (13.4 %). Two pregnant women used a NIPT (non-invasive prenatal test) test that did not detect chromosomal abnormalities in the fetus. In 8 cases, invasive prenatal diagnosis of the fetus was recommended, which was carried out by three women, and five refused. Conclusions. The peculiarities of somatic (in 46–68.7 % of women), reproductive (in 8-11.9 % of women) gynecological anamnesis (in 12–17.9 % of women), which can be the risk factors of congenital fetal heart disease, are revealed. In the structure of congenital defects of the heart of the fetus more often revealed hypoplasia of the left heart organs – 14 (20.9 %), tetralogy of Fallot – 9 (13.3 %). In 11 (16.4 %) women recorded indicators of biochemical markers, characteristic for the risk of chromosomal pathology, in the first trimester, and – in 9 (13.4 %) pregnant women – in the second trimester. Comparative data on prenatal diagnosis of congenital heart defects in the fetus of chromosomal, monogenic and multifactorial etiology are given. On the basis of the obtained results an algorithm of medical-genetic counseling of this contingent of patients was offered.

scholarly journals Impact of the expanded examination of fetal heart to the prenatal diagnosis of congenital heart diseases

2020 ◽  
Vol 17 (4) ◽  
pp. 285-291
Author(s):  
Pelin Koşger ◽  
Melih Velipaşaoğlu ◽  
Tuğçem Keskin ◽  
Hikmet Kıztanır ◽  
Birsen Uçar
Keyword(s):  
Prenatal Diagnosis ◽  
Congenital Heart ◽  
Fetal Heart ◽  
Heart Diseases ◽  
Congenital Heart Diseases

scholarly journals The Effect of Down Syndrome Biochemical Markers on Predicting Severity of Preeclampsia

2020 ◽  
Author(s):  
AYSE OZBAN
Keyword(s):  
Down Syndrome ◽  
Pregnant Women ◽  
Biochemical Markers ◽  
First Trimester ◽  
Maternal Serum ◽  
Screening Tests ◽  
Second Trimester ◽  
Study Results ◽  
Second Trimester Screening ◽  
Trimester Screening

Abstract Objective: This study aims to determine whether it is possible to predict preeclampsia by comparing postpartum results and test results of the pregnant women diagnosed with preeclampsia, whose first and/or second trimester screening tests were accessible, and to demonstrate the predictability of severity and week of onset.Background: 204 patients underwent renal transplantation in our center and 84 of them were female. Five of our patients (one of them had two births) gave birth to a total of 6 pregnancies.Method: 135 patients were diagnosed with preeclampsia and their first and/or second trimester screening tests were accessible, and 366 control participants gave birth to a healthy baby between 37-41 weeks after standard follow-up period for pregnancy and their screening tests were also accessible.Results: The study results show that the first trimester maternal serum PAPP-A level is significantly low in preeclamptic pregnant women, and that the second trimester maternal serum AFP and hCG levels are significantly high and uE3 levels are significantly low The results also suggest that the first and second trimester Down syndrome biochemical markers can be used in preeclampsia screening.Conclusion: Among these markers, uE3 is the parameter which affects the possibility of preeclampsia the most. However, the first and second trimester Down syndrome biochemical markers are not effective in predicting the severity and onset week of preeclampsia.

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.

Does prenatal diagnosis of critical congenital heart diseases influence the prereferral mortality in a center without surgical intervention?

2018 ◽  
Vol 32 (20) ◽  
pp. 3431-3434
Author(s):  
Buse Özer Bekmez ◽  
Evrim Alyamaç Dizdar ◽  
Nilüfer Okur ◽  
Mehmet Büyüktiryaki ◽  
Nurdan Uraş ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Congenital Heart ◽  
Surgical Intervention ◽  
Heart Diseases ◽  
Congenital Heart Diseases

Assessment of the quality of fetal heart standard views using the FAST, STAR, and FINE four‐dimensional ultrasound techniques in the screening of congenital heart diseases

2019 ◽  
Vol 37 (1) ◽  
pp. 114-123
Author(s):  
Milene Carvalho Carrilho ◽  
Liliam Cristine Rolo ◽  
Gabriele Tonni ◽  
Edward Araujo Júnior
Keyword(s):  
Congenital Heart ◽  
Fetal Heart ◽  
Heart Diseases ◽  
Congenital Heart Diseases

Prenatal diagnosis of congenital heart diseases in a tertiary hospital over two years

2020 ◽  
Vol 154 (3) ◽  
pp. 108-109
Author(s):  
Lidia Cardiel Valiente ◽  
Ariadna Ayerza Casas ◽  
Pilar Samper Villagrasa
Keyword(s):  
Prenatal Diagnosis ◽  
Congenital Heart ◽  
Heart Diseases ◽  
Tertiary Hospital ◽  
Congenital Heart Diseases

scholarly journals Parental reactions, distress, and sense of coherence after prenatal versus postnatal diagnosis of complex congenital heart disease

2019 ◽  
Vol 29 (11) ◽  
pp. 1328-1334 ◽  
Author(s):  
Ewa-Lena Bratt ◽  
Stina Järvholm ◽  
Britt-Marie Ekman-Joelsson ◽  
Antje Johannsmeyer ◽  
Sven-Åke Carlsson ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Life Satisfaction ◽  
Heart Disease ◽  
Prenatal Diagnosis ◽  
Pregnant Women ◽  
Sense Of Coherence ◽  
Congenital Heart ◽  
Depression Scale ◽  
Complex Congenital Heart Disease ◽  
Postnatal Diagnosis

AbstractIntroduction:A diagnosis of congenital heart disease (CHD) in offspring triggers psychological distress in parents. Results of previous studies have been inconsistent regarding the psychological impact of a prenatal versus a postnatal diagnosis. The aim of this study was to evaluate the influence of the time of diagnosis on levels of parental distress.Methods:Pregnant women and their partners with a fetus diagnosed with complex CHD, parents of children with postnatally diagnosed CHD, and pregnant women and their partners with uncomplicated pregnancies were invited to participate. Data were collected during pregnancy and 2–6 months after delivery using the Hospital Anxiety and Depression Scale, sense of coherence, life satisfaction, and Dyadic Adjustment Scale.Results:During pregnancy, the prenatal group scored lower sense of coherence compared to controls (p=0.044). Postnatally the prenatal group scored lower on sense of coherence compared to the postnatal group and controls (p=0.001; p=0.001). Postnatally, the prenatal and postnatal groups had higher levels of anxiety compared to controls (p=0.025; p=0.0003). Life satisfaction was lower in the prenatal group compared to that in the postnatal group and in controls (p=0.000; p=0.0004).Conclusion:Parents with a prenatal diagnosis of CHD in offspring report a low sense of coherence already during pregnancy which decreased further at follow-up. The same group reported a lower satisfaction with life compared to parents of a child with postnatal diagnosis of CHD and parents of a healthy child. This motivates further efforts to improve counselling and support during pregnancy and for parents after a prenatal diagnosis.

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