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Journal of Assisted Reproduction and... Jun 2018To determine whether a history of conception by assisted reproductive technology (ART) is associated with occurrence of one or more imprinting disorders of either... (Meta-Analysis)
Meta-Analysis Review
PURPOSE
To determine whether a history of conception by assisted reproductive technology (ART) is associated with occurrence of one or more imprinting disorders of either maternal or paternal origin.
METHODS
We implemented a systematic review of scholarly literature followed by comprehensive meta-analysis to quantitatively synthesize data from reports relating to use of ART to occurrence of any imprinting disorder of humans, including Beckwith-Wiedemann (BWS), Angelman (AS), Prader-Willi (PWS), and Silver-Russell (SRS) syndromes, as well as transient neonatal diabetes mellitus (TNDB) and sporadic retinoblasoma (RB).
RESULTS
The systematic review identified 13 reports presenting unique data from 23 studies that related conception following ART to occurrence of imprinting disorders. Multiple studies of four disorder were identified, for which meta-analysis yielded the following summary estimates of associations with a history of ART: AS, summary odds ratio (sOR) = 4.7 (95% confidence interval (CI) 2.6-8.5, 4 studies); BWS, sOR = 5.8 (95% CI 3.1-11.1, 8 studies); PWS, sOR = 2.2 (95% CI 1.6-3.0, 6 studies); SRS, sOR = 11.3 (95% CI 4.5-28.5, 3 studies). Only one study reported on each of TNDB and RB.
CONCLUSION
Published data reveal positive associations between history of ART conception and each of four imprinting disorders. Reasons for these associations warrant further investigation.
Topics: Chromosome Disorders; Female; Fertilization; Genomic Imprinting; Humans; Reproductive Techniques, Assisted; Risk Factors
PubMed: 29696471
DOI: 10.1007/s10815-018-1173-x -
Anales de Pediatria (Barcelona, Spain :... Apr 2008Pediatric Hepatic Malignancies (PHMs) are the result of the interaction between constitutional and environmental risk factors (RFs). We review the evidence on the main... (Review)
Review
OBJECTIVE
Pediatric Hepatic Malignancies (PHMs) are the result of the interaction between constitutional and environmental risk factors (RFs). We review the evidence on the main RFs associated to PHMs.
METHOD
Systematic review of the literature published in the last 25 years on Medline, Embase, Cancerlit, Lilacs and SciElo using the following key words: "etiology/risk factor/epidemiology" and "malignant liver tumors/hepatic cancer" or "hepatoblastoma/hepatocarcionoma".
RESULTS
PHMs account for 1 % of all pediatric malignancies. The main types, hepatoblastoma (HB) and hepatocarcionma (HCC) make up 98-99 % of PHM. The main constitutional RFs are: a) Beckwith-Wiedemann (BW) syndrome; b) isolated hemihyperplasia syndrome (IHS); c) adenomatous polyps of the colon; d) hemochromatosis; e) Hereditary Tyrosinemia Type 1; f) a -1-antitrypsin deficiency; g) porphyrias; h) cirrhosis; i) nonalcoholic steatosis; and j) primary sclerosing cholangitis. The main environmental RFs are: a) hepatitis B virus (HBV) and C virus (HCV); b) B1 aflatoxin (B1AF); c) ionizing radiation; d) alcohol; e) hormonal treatments; f) occupational exposure to pesticides, solvents, vinyl chloride and metals; g) smoking; h) arsenic; i) prematury and very low birth weight; and j) trematodes.
CONCLUSIONS
The clinical, analytical and ultrasound screening facilitate the early diagnosis of HB in the previously mentioned genetic syndromes, particularly BW and IHS during the first years of life. HBV universal vaccination of newborns provides the biggest opportunity to prevent a substantial proportion of PHMs. Also systematic monitoring of HBV and HCV in blood, hemoderivates, donated organs and drug addicts, are very useful. Other effective measures are: the reduction/elimination of B(1)AF in food, zero alcohol intake during childhood and adolescence as well decreasing prenatal exposure to the tobacco, solvents, pesticides, vinyl chloride, metals, ionizing radiation and hormonal treatments.
Topics: Child; Hepatoblastoma; Humans; Liver Neoplasms; Risk Factors
PubMed: 18394385
DOI: 10.1157/13117711 -
Ultrasound in Obstetrics & Gynecology :... Apr 2013To describe the sonographic features and pregnancy outcomes of placental mesenchymal dysplasia (PMD), an entity often misdiagnosed as molar pregnancy. (Review)
Review
OBJECTIVE
To describe the sonographic features and pregnancy outcomes of placental mesenchymal dysplasia (PMD), an entity often misdiagnosed as molar pregnancy.
METHODS
We reviewed PMD cases from our institution and performed a systematic review of the existing literature. Inclusion criteria for the review were diagnosis of PMD as defined by placental pathology, description of placental morphology on antenatal ultrasound and reporting of pregnancy outcomes.
RESULTS
We found three cases of PMD at our institution. Patient 1 had elevated human chorionic gonadotropin (hCG) and an enlarged, hydropic placenta at 13 weeks, suggestive of a molar pregnancy. Patient 2 also had elevated hCG with large, vascular placental lakes on ultrasound suggesting placenta accreta or molar pregnancy. Case 3 involved placentomegaly and fetal anomalies suggestive of Beckwith-Wiedemann syndrome. From the literature review, 61 cases met the inclusion criteria. The most common sonographic features included enlarged (50%) and cystic (80%) placenta with dilated chorionic vessels. Biochemical aneuploidy screening abnormalities were relatively common as were fetal anomalies, Beckwith-Wiedemann syndrome and other genetic abnormalities. Pregnancy complications included intrauterine growth restriction (IUGR; 33%), intrauterine fetal death (IUFD; 13%), and preterm labor (33%). Pregnancies without fetal anomalies, IUGR, IUFD or preterm labor had normal neonatal outcomes despite PMD (9%).
CONCLUSIONS
The differential diagnosis of PMD includes molar pregnancy and other placental vascular anomalies. PMD is associated with adverse pregnancy outcome, so heightened surveillance with genetic evaluation, serial growth scans and third-trimester assessment of wellbeing should be considered. PMD must be differentiated from gestational trophoblastic disease because management and outcomes differ.
Topics: Beckwith-Wiedemann Syndrome; Diagnosis, Differential; Female; Fetal Death; Fetal Diseases; Humans; Hydatidiform Mole; Infant, Newborn; Placenta; Placenta Diseases; Pregnancy; Risk Factors; Ultrasonography, Prenatal
PubMed: 23239538
DOI: 10.1002/uog.12359