scholarly journals Prenatal detection and molecular cytogenetic characterization of 19q13.42 microduplication: three reported cases and literature review

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Xinyue Zhang ◽  
Fagui Yue ◽  
Qingyang Shi ◽  
Yuting Jiang ◽  
Jing He ◽  
...  
Keyword(s):  
Pregnant Women ◽  
Clinical Symptoms ◽  
Wide Spectrum ◽  
Nuchal Translucency ◽  
Maternal Serum ◽  
Causative Role ◽  
Healthy Children ◽  
Maternal Serum Screening ◽  
Long Term Follow Up ◽  
Cytogenetic Characterization

Abstract Background Trisomy 19q is a recognizable syndrome and associated with a wide spectrum of clinical phenotypes in clinic. The purpose of this study was to explore the prenatal phenotypes of 19q13.42 duplication, which was rarely reported in clinic. Case presentation Three pregnant women presenting diverse indications for prenatal diagnosis accepted amniocentesis: increased nuchal translucency and fetal pyelic separation (case 2) and high risk of maternal serum screening for Down syndrome (case 1 and case 3). Case 1 and case 2 shared similar duplicated locus in the region of 19q13.42, encompassing part NLRP12 gene. The latter inherited the chromosomal duplication from the mother with normal phenotypes. Case 3 carried a 1.445 Mb duplication in the 19q13.42q13.43 region. It was proposed that evolutionary duplication of NLRP12 gene could have a causative role in autoinflammatory diseases development. The genotype–phenotype correlation depends mainly on the duplicated size and functional genes involved, which is still yet to be determined. All pregnant women chose to continue the pregnancy and delivered healthy children with no apparent abnormalities. Conclusions The 19q13.42 microduplications in our study were the smallest fragments compared to previous literature. Our findings enriched the prenatal phenotypes for this chromosomal microscopic imbalance. It was proposed that long term follow up analysis should be guaranteed till adulthood to determine whether there will be other emerging clinical symptoms and developmental-behavioral disorders for such carriers.

scholarly journals Clinical findings and molecular cytogenetic characterization of 19q13.42 microduplication: three cases report and literature review

2020 ◽  
Author(s):  
Xinyue Zhang ◽  
Fagui Yue ◽  
Qingyang Shi ◽  
Yuting Jiang ◽  
Jing He ◽  
...  
Keyword(s):  
Pregnant Women ◽  
Clinical Symptoms ◽  
Wide Spectrum ◽  
Nuchal Translucency ◽  
Clinical Findings ◽  
Causative Role ◽  
Healthy Children ◽  
Long Term Follow Up ◽  
Cytogenetic Characterization ◽  
First Time

Abstract BackgroundTrisomy 19q is a recognizable syndrome and associated with a wide spectrum of clinical phenotypes in clinic. The purpose of this study was to explore the prenatal phenotypes of 19q13.42 duplication, which was rarely reported in clinic. Case presentationThree pregnant women presenting diverse indications for prenatal diagnosis accepted amniocentesis: increased nuchal translucency (case 2) and high risk of trisomy 21 (case 1 and case 3). Case 1 and case 2 shared similar duplicated locus in the region of 19q13.42, encompassing part NLRP12 gene. Case 2 inherited the chromosomal duplication from the mother with normal phenotypes. Case 3 carried a 1.445Mb duplication in the 19q13.42q13.43 region. It was proposed that evolutionary duplication of NLRP12 gene could have a causative role in autoinflammatory diseases development. The genotype-phenotype correlation depends mainly on the duplicated size and functional genes involved, which is still yet to be determined. All pregnant women chose to continue the pregnancy and delivered healthy children with no apparent abnormalities.ConclusionsThe 19q13.42 microduplications in our study are the smallest fragments compared to previous literature. We delineated 19q duplication cases without structural ultrasound anomalies for the first time, which enriched the prenatal phenotypes of this chromosomal aberration. It was proposed that long term follow up analysis should be guaranteed till adulthood to determine whether there will be other emerging clinical symptoms and developmental-behavioral disorders for such carriers.

Long-term Outcome of Pregnancies with Increased Nuchal Translucency and Normal Karyotype

2009 ◽  
Vol 3 (3) ◽  
pp. 83-90 ◽  
Author(s):  
L Orosz ◽  
J Lukács ◽  
M Szabó ◽  
T Kovács ◽  
I Zsupán ◽  
...  
Keyword(s):  
First Trimester ◽  
Nuchal Translucency ◽  
Healthy Children ◽  
Cardiac Defects ◽  
Long Term Outcome ◽  
Long Term Follow Up ◽  
Minor Anomalies ◽  
Increased Nuchal Translucency

Abstract Objectives The aim of this study was to examine the prevalence of major and minor anomalies according to the increase of NT thickness. Methods This is a long-term retrospective study in which singleton gestations of euploid fetuses with increased NT were analyzed. NT measurement was performed in the first trimester examination according to the criteria of fetal medicine foundation (FMF) when the fetal crown-rump length (CRL) was 45 to 84 mm. The cases were followed up from 1 to 5 years postpartum to assess the presence of CHD and to point out other anomalies that could be associated with increased NT. Results The outcome of 133 cases could be analysed out of 198 pregnancies of which in 55 cases some congenital anomalies (minor or major) were revealed up to the 5 years of life (prevalence of 41.4%). The prevalence of CHDs, including the defects of the great vessels, stood out among the others. In the group with NT between 95th and 99th centiles four cases with minor heart problems were identified (11.1%, 4/36). The rate of major cardiac defects proved to be 13.3% (6/45) in the group with NT between 3.5-4.4 mm, and 17.3% (9/52) in the group with NT > 4.5 mm. Among the 35 healthy children with various minor health problems not related to the presence of increased nuchal translucency there were 7 cases with hydrocele. In 3 of them it was associated with unilateral inguinal hernia but in 3 it was isolated and one was part of a complex malformation (The rate of other organ-specific anomalies did not prove to be significant). In the whole study population only thirteen cases (9.8%) ended up in intrauterine death, or arteficial abortion. Conclusion The prevalence of major cardiac defects as well as other major anomalies increases with fetal nuchal thickness. Since the prevalence of CHD is 100 times higher in the population of fetuses with NT above 4.5 mm, specialist fetal echocardiography should be offered in the second trimester together with other follow-up investigations. Among the children without any major abnormalities, a high number of minor anomalies were revealed during the long-term follow-up. These anomalies do not have significant disadvantage to the quality of life, but some of them necessitates short or long-term medical treatment and this should also be leveled with the future parents. Despite the numerous investigations the exact etiology of increased NT remains unknown. The relatively high prevalence of hydrocele in the newborns in our material raises the question wheather it is related to the presence of NT in the fetal period because of abnormal lymphatic development or alterations in the extracellular matrix. Further long-term follow-up studies could probably contribute to find explanation on the etiology of increased NT in the first trimester. These data can be used when counseling parents of euploid fetuses with increased fetal NT.

scholarly journals The comparison of plasma fibronectin in term and preterm delivery: A cross-sectional, descriptive-analytical study

2020 ◽  
pp. 11-20
Author(s):  
Zahra Moradi ◽  
Parvin Moradi ◽  
Mohamad Hassan Meshkibaf ◽  
Mehrnoosh Aleosfoor ◽  
Mehdi Sharafi ◽  
...  
Keyword(s):  
Pregnant Women ◽  
Preterm Delivery ◽  
Maternal Plasma ◽  
Maternal Serum ◽  
Screening Tests ◽  
Plasma Fibronectin ◽  
Obese Women ◽  
Serum Samples ◽  
Maternal Serum Screening ◽  
Cross Sectional

Background: Preterm delivery is one of the main causes of infant death. Therefore, prediction of preterm delivery may eliminate a large number of prenatal complications. Objectives: The present study aimed to understand if preterm delivery can be predicted by assessing maternal plasma fibronectin concentration. Materials and Methods: Serum samples from 105 pregnant women participating in this study were collected. The plasma fibronectin were measured at 24-28 wk of gestation and again at 32-36 wk of gestation. Unfortunately, only 65 of the 105 pregnant women, returned for the second sampling. The plasma fibronectin was analyzed using ELISA method and its concentration in term and preterm deliveries was compared. The delivery dates of all the women were also recorded. Results: Out of 105 pregnant women, 28 delivered preterm (26.7%). The Plasma fibronectin concentrations in women with preterm delivery were higher than in those who delivered at term (p = 0.001). Accordingly, Plasma fibronectin concentrations were significantly higher in the second serum samples (p = 0.01). Plasma fibronectin concentrations was also higher in obese women and in those suffering from preeclampsia (p = 0.12) and gestational diabetes (p = 0.81). Conclusion: Plasma fibronectin concentrations test could be used as an optional screening test for preterm delivery at 28 to 34 wk of gestation in pregnant women who prefer to avoid vaginal sampling. Key words: Premature birth, Fibronectin, Maternal serum screening tests.

Prenatal Screening for Down Syndrome in Australia

Ultrasound ◽  
2009 ◽  
Vol 17 (3) ◽  
pp. 167-171
Author(s):  
Debbie L Nisbet ◽  
Andrew McLennan
Keyword(s):  
Down Syndrome ◽  
Prenatal Screening ◽  
False Positive Rate ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Maternal Serum ◽  
Screening Tests ◽  
Maternal Serum Screening ◽  
Serum Screening ◽  
Maternal Preference

Prenatal screening for Down syndrome should be offered to all pregnant women. The screening option chosen will be influenced by maternal preference, local availability of tests, and the gestation at which the pregnant woman presents. Screening tests take into account the effect of maternal age on Down syndrome risk. The combined first trimester screen using nuchal translucency and first trimester maternal serum screening can achieve a detection rate for Down syndrome of 90% with a 5% false positive rate, when performed by appropriately trained individuals. Midtrimester maternal serum screening is a good screening option for women unable to undergo the combined first trimester screen.

Some Clinical Manifestations and Laboratory Findings of Human Gigantica Fascioliasis in Pregnant Women and Children in Central-Coastal Provinces, Vietnam, 2003-2017

2019 ◽  
Vol 4 (3) ◽  
Keyword(s):  
Pregnant Women ◽  
Clinical Symptoms ◽  
Wide Spectrum ◽  
Clinical Signs ◽  
Clinical Manifestations ◽  
Fasciola Gigantica ◽  
World Health ◽  
Laboratory Findings ◽  
Laboratory Parameters ◽  
Women And Children

Introduction: Fascioliasis is a disease of the hepatobiliary system, caused by Fasciola spp that are increasing and threating of public health in the tropic areas, including of Central coastal of Vietnam. World Health Organisation estimates that at least 2.4 million people are infected in more than 70 countries worldwide, with several million at risk, and particularly, no continent is free from fascioliasis. This study carried out to evaluate several typical clinical and paracinical aspects in the pregnant women and children groups with fascioliasis. Methods: With the descriptive cross-sectional study design, and sample size in line with hospital based data. Results: the data post-analysis showed that total of 94 pregnant women and 212 child with gigantica fascioliasis were enrolled:- In the pregnant women group: the major clinical symptoms of epigastric and Chauffard Rivet triangle pain (95.74%), subshoulder muscle pain (97.87%), gastrointestinal disturbances as abdominal pain plus constipation (14.89%), loosed stool (22.34%), nausea and/or vomit (29.78%), mild fever (68%), allergic reaction with pruritis and urticaria (64.89%), mild anemia (4.26%), rare symptoms may be hepatomegaly (6.38%), chest pain, dyspnoea (43.62%), jaundice (2.13%); Laboratory parameters were positive ELISA test with Fasciola gigantica antigen (95.74%), hepatobiliary lesions by ultrasound (97.87%), majority in right liver (90.32%), eosinophilia is the predominant indicator (90.42%), In the children group: the clinical manifestations included of epigastric and Chauffard-Rivet area pain (94.34%), flatuence, nausea and intermittent vomiting (76.41%), digestive disoders (40.57%), allergy (30.66%), fatigue plus weight loss (12.74%); laboratory findings included of hepatobiliary lesions by US (100%), positive ELISA with Fasciola gigantica antigen (96.70%), eosinophil of 93.39% and 1.90% positive copro-examination with Fasciolae eggs. Conclusions: In pregnant women, symptoms are indistinguishable from hepatobiliary, digestive tract diseases or overlap with gestation terrains, and clinical signs of paediatric fascioliasis may mimic a wide spectrum of hepatobiliary disorders laboratory parameters and imaging diagnostics, especially in FasELISA, hypereosinophilia and liver lesions by ultrasound were very useful in positive diagnosis.

scholarly journals Nuchal translucency screening and antenatal maternal serum screening for Down syndrome: results of a project

2001 ◽  
Vol 18 ◽  
pp. P23-P23
Author(s):  
C. E. Benavides ◽  
C. C. Garcia ◽  
N. C. Lagos ◽  
X. C. Melgarejo ◽  
M. I. C. Ferres
Keyword(s):  
Down Syndrome ◽  
Nuchal Translucency ◽  
Maternal Serum ◽  
Maternal Serum Screening ◽  
Serum Screening
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