Detection of confined placental trisomy 16 using non-invasive prenatal testing in a pregnancy associated with intrauterine growth restriction and normal karyotype

2019 ◽  
Vol 233 ◽  
pp. 81-83
Author(s):  
Jun-Hui Wan ◽  
Jin Han ◽  
Yan-Dong Yang ◽  
Dong-Zhi Li
Keyword(s):  
Intrauterine Growth Restriction ◽  
Prenatal Testing ◽  
Normal Karyotype ◽  
Growth Restriction ◽  
Trisomy 16 ◽  
Intrauterine Growth ◽  
Non Invasive

scholarly journals Alteration in 11 Beta-Hydroxysteroid Dehydrogenase Type-2 (HSD11B2) Gene as A Potential Candidate Parameter for Early Detection of Intrauterine Growth Restriction (IUGR) Events

2021 ◽  
Vol 5 (3) ◽  
pp. 98
Author(s):  
Louis Fabio Jonathan Jusni ◽  
Patricia Patricia ◽  
Brigitte Leonie Rosadi
Keyword(s):  
Early Detection ◽  
Doppler Ultrasound ◽  
Intrauterine Growth Restriction ◽  
Prenatal Testing ◽  
Hydroxysteroid Dehydrogenase ◽  
Growth Restriction ◽  
Diagnostic Parameter ◽  
Intrauterine Growth ◽  
Non Invasive

Intrauterine Growth Restriction (IUGR) incidence in Indonesia ranks in the top 10 of the highest in Asia. It is the main perinatal death cause. IUGR also impairs fetal neurodevelopment, which can affect the development of children until later ages. Lack of 11β-hydroxysteroid dehydrogenase type-2 (11β-HSD2) enzyme is influenced by changes in the coding gene, HSD11B2, one of IUGR's causes. The main diagnostic method of IUGR at this time is by using Doppler ultrasound. However, Doppler ultrasound has several limitations as many cases are not detected. Its clinical predictive value in various women is poor, as Doppler ultrasound is not recommended for use in the first trimester, detection of abnormalities in the second trimester seems to be too late for helpful interventions. The study aim is to present an overview concerning HSD11B2 gene alteration in an non-invasive prenatal testing (NIPT) as a possible diagnostic parameter for early detection in IUGR infants. This literature review is based on selected articles and studies taken from the Pubmed, Proquest, and EBSCO databases. A total of 4 studies reported the tendency for DNA methylation and decreased expression of the HSD11B2 gene in IUGR cases. Changes in the HSD11B2 gene have the potential to become a diagnostic parameter in the early detection of infants with IUGR. Further study and investigation of this possibility are needed.Keywords: intrauterine growth restriction, HSD11B2, early detection, diagnostic, non-invasive prenatal testing

Values of T/QRS ratio in pregnancies complicated by intrauterine growth restriction

2016 ◽  
Vol 44 (7) ◽  
Author(s):  
Tomasz Fuchs
Keyword(s):  
Intrauterine Growth Restriction ◽  
Well Being ◽  
Study Groups ◽  
Growth Restriction ◽  
Healthy Controls ◽  
Value Differences ◽  
Intrauterine Growth ◽  
Non Invasive ◽  
Invasive Method ◽  
Ratio Variables

AbstractAims:To evaluate values of T/QRS ratio in normal pregnancies and those complicated by intrauterine growth restriction (IUGR) using non-invasive method with transabdominal electrodes. Assessment of fetal well-being in IUGR pregnancies.Methods:Fetal electrocardiograms were recorded and analyzed by KOMPOREL software from ITAM (Zabrze, Poland) and T/QRS ratios were automatically calculated. Doppler velocimetry of the middle cerebral artery and umbilical artery was carried out. The study group consisted of IUGR pregnancies with normal cerebroplacental ratios (CPRs) (n=110), IUGR pregnancies with decreased CPRs (n=29), and healthy controls (n=549). Analyses were performed between the study groups and by gestational age. T/QRS ratio variables and CPRs were calculated. Analysis of variance and linear regression were performed.Results:Maximum values, maximum minimal value differences, and standard deviations of T/QRS ratio were significantly different between the IUGR group with reduced CPRs and normal CPRs (P=0.0009, P=0.0000, P=0.0034, respectively) as well as between the IUGR group with reduced CPRs and healthy controls (P=0.0000, P=0.0001, P=0.0009, respectively). Mean maximum values in the IUGR group with reduced CPRs exceeded normal values.Conclusions:T/QRS ratio may be useful in assessing fetal well-being in IUGR pregnancies; however, future studies are needed to determine typical ranges of T/QRS ratio in pregnancies complicated by IUGR.

Profound Intrauterine Growth Restriction (IUGR) Due to Donohue Syndrome: the Story of One Family

Ultrasound ◽  
2009 ◽  
Vol 17 (2) ◽  
pp. 99-102
Author(s):  
Samawal Alsammoua ◽  
Roisin McPherson ◽  
James Robins
Keyword(s):  
Intrauterine Growth Restriction ◽  
Autosomal Recessive ◽  
Prenatal Testing ◽  
Obstetric Care ◽  
Autosomal Recessive Disorder ◽  
Growth Restriction ◽  
Healthy Baby ◽  
Intrauterine Growth ◽  
Donohue Syndrome ◽  
Biochemical Features

We describe the obstetric care delivered to a woman over the course of three pregnancies during which time she and her partner were diagnosed as carriers of a rare autosomal recessive disorder: Donohue syndrome. She went on to deliver two affected children and one child who was unaffected. The first baby was growth restricted in utero and had many classical clinical and biochemical features of the syndrome. This infant died at the age of five months. The mother declined prenatal testing in her subsequent pregnancies. Fortunately, she was to deliver a healthy baby in her second pregnancy. However, her third pregnancy was again complicated by severe intrauterine growth restriction. She was delivered of the second affected baby who again demonstrated many of the features and abnormalities associated with Donohue syndrome. This baby died at thirteen months of age. The process leading to the diagnosis, the ultrasound growth charts related to affected and unaffected fetuses and the implications for subsequent management are described.

Pathological features of the sequence in pregnant women with delayed fetal growth

2019 ◽  
pp. 50-54
Author(s):  
V.O. Golyanovskiy ◽  
◽  
Ye.O. Didyk ◽  
Keyword(s):  
Pregnant Women ◽  
Intrauterine Growth Restriction ◽  
Normal Development ◽  
Intrauterine Infection ◽  
Normal Pregnancy ◽  
Growth Restriction ◽  
Control Group ◽  
Intrauterine Growth ◽  
Increased Risk ◽  
Infection And Inflammation

Pregnant women with intrauterine growth restriction (IUGR) have an increased risk of adverse perinatal and long-term complications compared with the birth of children with normal body weight. Thus, IUGR is one of the main challenges for the global health system, especially in poor and developing countries. Morpho-functional studies of the placentas help in determining the causes of IUGR, and therefore, timely prevent complications in pregnant women with IUGR. The objective: The purpose of this study is to investigate various morphometric and pathomorphological changes in the placenta, including inflammatory, in cases of IUGR, and to establish a correlation of these results with the etiology and complications for the fetus. Materials and methods. In the current study, 54 placentas of the fetuses with IUGR (the main group) were compared with 50 placentas of the fetuses with normal development (control group). The criteria for the inclusion of IUGR were gestational age more than 30 weeks and all fetuses with a weight less than 10th percentile for this period of pregnancy. The placenta material was studied pathomorphologically with laboratory screening for infection and inflammation. Similarly, the results were determined for placentas of the fetuses with normal development compared to placentas with IUGR. Results. The placenta study showed the presence of calcification in the case of IUGR, as well as in the case of prolonged pregnancy. However, calcification of the placenta in the case of IUGR was more progressive compared with placenta in the normal pregnancy. In addition, the presence of intrauterine infection and inflammation was observed, which could also lead to an adverse outcome for the further progression of pregnancy with IUGR. Conclusion. A comparative macro- and microscopic pathomorphological study of the placentas in the two groups has shown a significant increase in the pathological changes in all the anatomical structures of the fetuses with IUGR. Key words: Intrauterine growth restriction (IUGR), fetal weight, pathomorphological changes of the placenta.

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