-
Archives of Gynecology and Obstetrics Aug 2016Cell free DNA (cfDNA) testing has evolved as an important tool in prenatal screening for trisomy 21. It can also be used in screening for monosomy X. We perform a... (Review)
Review
OBJECTIVE
Cell free DNA (cfDNA) testing has evolved as an important tool in prenatal screening for trisomy 21. It can also be used in screening for monosomy X. We perform a systemic review to determine the detection and false positive in screening for monosomy X and demonstrate a case that offers two possible explanations for the lower screening performance compared to trisomy 21.
CASE
A 31-year-old primigravida was referred to us due to an abnormal cfDNA test indicating monosomy X. However, the genitalia was male. An amniocentesis was done that indicated 46,X,idic(Y)(q11.21). SNP array analysis confirmed the Ypter-q11.21 duplication. A phenotypically normal male baby was born at 40 weeks. Postnatal karyotyping of several pregnancy tissues was carried out. While in most samples the karyotype was 46,X,idic(Y)(q11.21), in the four placenta samples and in the amniotic membranes there was mosaicism of 46,X,idic(Y)(q11.21) and 45,X.
DATA SOURCES
A search of the Medline and Embase database was done for articles about screening for monosomy X by cfDNA. We performed a systematic review to assess the detection and false-positive rate.
RESULTS
Seven studies fulfilled the inclusion criteria. In summary, there were 153 pregnancies with monosomy X and 4116 euploid ones. The detection and false-positive rate was 94.1 and 0.53 %.
CONCLUSION
Although the performance of cfDNA in prenatal screening for monosomy X is better than any other screening test, it is not comparable with invasive testing. One should be aware of the limitations especially if the ultrasound examination is contradictory with the cfDNA results.
Topics: Adult; Amniocentesis; DNA; Down Syndrome; Female; Humans; Karyotype; Karyotyping; Male; Mosaicism; Pregnancy; Prenatal Diagnosis; Turner Syndrome
PubMed: 27022934
DOI: 10.1007/s00404-016-4077-y -
Acta Obstetricia Et Gynecologica... Nov 2020Emergency cerclage is the most common active intervention in pregnant women with cervical insufficiency. This meta-analysis aimed to compare the effectiveness of... (Comparative Study)
Comparative Study Meta-Analysis
INTRODUCTION
Emergency cerclage is the most common active intervention in pregnant women with cervical insufficiency. This meta-analysis aimed to compare the effectiveness of emergency cerclage vs expectant management on maternal and perinatal outcomes, and to assess the current status of evidence.
MATERIAL AND METHODS
A search was conducted from 1 June 2019 until 1 September 2019 and eligible studies were identified in the MEDLINE, Scopus, Cochrane and US clinical trials registry without limitations concerning the publication dates and languages. Randomized controlled trials (RCTs), non-RCTs and observational studies comparing emergency cerclage with no cerclage/expectant management, in women presenting with painless cervical dilatation were included.
RESULTS
The electronic search yielded 3607 potential studies, of which 38 were fully reviewed and 12 observational studies (1021 participants) were included. Cerclage was superior to expectant management for the primary outcomes of preterm birth before 28 and 32 gestational weeks, OR 0.25 (95% CI 0.16-0.39, five studies, N = 392, I = 41%, low quality) and 0.08 (95% CI 0.02-0.29, four studies, N = 176, I = 51%, low quality), respectively. Cerclage was also superior to expectant management for the secondary outcomes of fetal loss OR 0.26 (95% CI 0.12-0.56, 8 studies, N = 455, I = 46%, very low-quality), pregnancy prolongation in days mean difference 47.45 (95% CI 39.89-55.0, 12 studies, N = 1027 I = 86%, very low quality), gestational age at birth in weeks mean difference 5.68 (95% CI 4.69-6.67, 9 studies, N = 892, I = 73%, very low quality), admission to neonatal intensive care OR 0.21 (95% CI 0.07-0.70, two studies, N = 79, I = 36%, very low quality) and neonatal death OR 0.12 (95% CI 0.04-0.34, five studies, N = 130, I = 0%, very low quality). There were no differences between cerclage and expectant management concerning premature rupture of membranes during or after the procedure OR 0.68 (95% CI 0.31-1.48, two studies, N = 155, I = 85%, very low quality) and chorioamnionitis OR 1.14 (95% CI 0.31-4.25, three studies, N = 88, I = 33%, very low quality).
CONCLUSIONS
Emergency cerclage in pregnant women with painless cervical dilatation seems to decrease preterm births, prolong the pregnancy, and decrease the neonatal deaths and fetal losses, but does not increase the risk of chorioamnionitis and premature rupture of membranes. Despite the extremely favorable estimates for cerclage, the results should be viewed with caution because, as a result of the lack of randomized control trials, the quality of evidence is low to very low.
Topics: Cerclage, Cervical; Emergencies; Female; Humans; Infant; Infant Mortality; Infant, Newborn; Intensive Care, Neonatal; Pregnancy; Premature Birth; Treatment Outcome; Uterine Cervical Incompetence; Watchful Waiting
PubMed: 32757297
DOI: 10.1111/aogs.13968 -
PloS One 2021Congenital CMV infection is the first worldwide cause of congenital viral infection but systematic screening of pregnant women and newborns for CMV is still debated in...
Current practices of management of maternal and congenital Cytomegalovirus infection during pregnancy after a maternal primary infection occurring in first trimester of pregnancy: Systematic review.
INTRODUCTION
Congenital CMV infection is the first worldwide cause of congenital viral infection but systematic screening of pregnant women and newborns for CMV is still debated in many countries.
OBJECTIVES
This systematic review aims to provide the state of the art on current practices concerning management of maternal and congenital CMV infection during pregnancy, after maternal primary infection (PI) in first trimester of pregnancy.
DATA SOURCES
Electronically searches on databases and hand searches in grey literature.
STUDY ELIGIBILITY CRITERIA AND PARTICIPANTS
Primary outcome was listing biological, imaging, and therapeutic management interventions in two distinct populations: population 1 are pregnant women with PI, before or without amniocentesis; population 2 are pregnant women with congenitally infected fetuses (after positive amniocentesis). Secondary outcome was pregnancy outcome in population 2.
RESULTS
Out of 4,134 studies identified, a total of 31 studies were analyzed, with 3,325 pregnant women in population 1 and 1,021 pregnant women in population 2, from 7 countries (Belgium, France, Germany, Israel, Italy, Spain and USA). In population 1, ultrasound (US) examination frequency was 0.75/month, amniocentesis in 82% cases, maternal viremia in 14% and preventive treatment with hyperimmune globulins (HIG) or valaciclovir in respectively 14% and 4% women. In population 2, US examination frequency was 1.5/month, magnetic resonance imaging (MRI) in 44% cases at 32 weeks gestation (WG), fetal blood sampling (FBS) in 24% at 28 WG, and curative treatment with HIG or valaciclovir in respectively 9% and 8% patients.
CONCLUSIONS
This systematic review illustrates management of maternal and congenital CMV during pregnancy in published and non-published literature, in absence of international consensus.
SYSTEMATIC REVIEW REGISTRATION
PROSPERO CRD42019124342.
Topics: Amniocentesis; Cytomegalovirus; Cytomegalovirus Infections; Disease Management; Female; Fetal Diseases; Humans; Infant, Newborn; Infectious Disease Transmission, Vertical; Pregnancy; Pregnancy Complications, Infectious; Pregnancy Outcome; Prenatal Diagnosis
PubMed: 34860861
DOI: 10.1371/journal.pone.0261011 -
Journal of the Turkish German... 2016To perform a meta-analysis for an assessment of the risk of preeclampsia or gestational hypertension following chorionic villus sampling (CVS).
OBJECTIVE
To perform a meta-analysis for an assessment of the risk of preeclampsia or gestational hypertension following chorionic villus sampling (CVS).
DATA SOURCE
PubMed was systematically searched from its inception through January 2016.
MATERIAL AND METHODS
Nine reports were identified. A pre-specified scale was used to assess their quality.
TABULATION INTEGRATION AND RESULTS
We performed pooling into three subgroups with respect to the control group: A) Patients with no invasive prenatal diagnostic procedure served as a control group for comparison. The odds ratios for gestational hypertension (0.76, 95% CI 0.46-1.26), preeclampsia (0.83, 95% CI 0.42-1.67), and severe preeclampsia (0.49, 95% CI 0.04-5.78) or when hypertension categories were pooled (0.80, 95% CI 0.46-1.41) were not significantly different. B) Patients with midtrimester diagnostic amniocentesis and patients with no invasive prenatal diagnostic procedure were combined as a control group for comparison. The odds ratios for preeclampsia (1, 95% CI 0.46-2.18), severe preeclampsia (0.83, 95% CI 0.14-4.85), and pooled hypertension categories (1.07, 95% CI 0.63-1.84) were not significantly different. C) Patients with midtrimester diagnostic amniocentesis served as a control group. There was a significant difference in the odds ratio for preeclampsia between the CVS and amniocentesis groups (2.47, 95% CI 1.14-5.33). There was a marginal difference in the odds ratio for combined pregnancy-induced hypertension categories between the CVS and amniocentesis groups (1.61, 95% CI 1.02-2.53).
CONCLUSION
The available data do not indicate an increased risk of preeclampsia or gestational hypertension following first trimester CVS. The heterogeneity and retrospective design of existing studies are limiting factors for our analysis and findings.
PubMed: 27403071
DOI: 10.5152/jtgga.2016.16026 -
Prenatal Diagnosis Dec 2017To review the literature for survival and phenotypes of liveborns with autosomal monosomy to inform decisions regarding transfer of in vitro fertilization-derived... (Review)
Review
Should embryos with autosomal monosomy by preimplantation genetic testing for aneuploidy be transferred?: Implications for embryo selection from a systematic literature review of autosomal monosomy survivors.
OBJECTIVE
To review the literature for survival and phenotypes of liveborns with autosomal monosomy to inform decisions regarding transfer of in vitro fertilization-derived embryos reported as monosomic on preimplantation genetic testing for aneuploidy (PGT-A).
METHOD
Ovid-Medline and EMBASE were systematically searched to identify published case reports of liveborn individuals with autosomal monosomy, full or mosaic, for a whole chromosome.
RESULTS
Fifty-three reports describing 56 individuals with autosomal monosomy met the selection criteria: 1 case each of monosomy 14 and 16, 3 each for monosomy 15 and 18, 1 for group "E", 5 for monosomy 20, 24 for monosomy 21, 7 for monosomy 22, and eleven for a "G" group chromosome. There were no reports with monosomy for the larger chromosomes 1 through 13, nor for chromosomes 17 or 19, autosomes with highest gene density. Most reported individuals had severe handicaps and died in infancy with some surviving longer.
CONCLUSION
Given potential for survival of handicapped individuals with autosomal monosomy for chromosomes 14, 15, 16, 18, 20, 21, and 22, low priority should be given to transfer of embryos apparently monosomic for these chromosomes. Couples electing transfer of monosomic embryos should consider amniocentesis for ongoing pregnancies but should be informed of its limitations.
Topics: Contraindications, Procedure; Embryo Transfer; Humans; Live Birth; Monosomy; Mosaicism; Preimplantation Diagnosis
PubMed: 29164644
DOI: 10.1002/pd.5185 -
Ultrasound in Obstetrics & Gynecology :... Nov 2019To investigate the ultrasound characteristics and outcome of fetuses with non-visualization of the fetal gallbladder (NVFGB) followed in our tertiary university... (Meta-Analysis)
Meta-Analysis
OBJECTIVES
To investigate the ultrasound characteristics and outcome of fetuses with non-visualization of the fetal gallbladder (NVFGB) followed in our tertiary university hospital, and to provide a comprehensive review of the literature on prenatal findings and outcome of NVFGB.
METHODS
NVFGB was defined as non-visualization of the gallbladder on two targeted ultrasound examinations performed within a 1-week period. First, we reviewed the medical records of NVFGB cases managed in our center over a 9-year period. Then, we performed a systematic review of the literature to identify studies on NVFGB. The incidence of chromosomal anomalies, later visualization of the gallbladder, gallbladder agenesis, cystic fibrosis and biliary atresia was assessed in fetuses with isolated and non-isolated NVFGB. The role of hepatic enzyme measurements in the diagnosis of cystic fibrosis and biliary atresia in fetuses with NVFGB was also reviewed.
RESULTS
Sixteen cases of NVFGB were followed in our center, in 10 (62.5%) of which it was an isolated finding. The incidence of biliary atresia was 12.5% and that of gallbladder agenesis was 12.5%, while no case of cystic fibrosis was reported. The gallbladder was visualized later in pregnancy or postnatally in 43.8% and 25.0% of cases, respectively. A total of seven studies, including our cohort, involving a total of 280 NVFGB cases, met the inclusion criteria for the systematic review. Overall, 20.5% of fetuses had an associated ultrasound anomaly, and the incidence of chromosomal anomaly in this group was 20.4%. In cases with isolated NVFGB, the incidence of chromosomal anomaly was 1.9%. In fetuses with normal karyotype and isolated NVFGB, the gallbladder was later visualized in 70.4% of cases, while the incidence of gallbladder agenesis, cystic fibrosis and biliary atresia was 25.2%, 3.1% and 4.8%, respectively. In fetuses with non-isolated NVFGB, the incidence of cystic fibrosis and biliary atresia was 23.1% and 18.2%, respectively. The negative predictive value of amniotic fluid enzyme levels for the prediction of severe disease (including biliary atresia or cystic fibrosis) ranged between 94% and 100% when evaluated before 22 weeks' gestation, and dropped to 88% after 22 weeks.
CONCLUSIONS
In cases with persistent NVFGB, the risk of a severe postnatal condition should be considered. A detailed ultrasound scan should be offered and parents tested for cystic fibrosis gene mutation. An invasive procedure for karyotyping and measurement of liver enzyme concentrations before 22 weeks constitutes a reasonable work-up. Copyright © 2019 ISUOG. Published by John Wiley & Sons Ltd.
Topics: Amniocentesis; Biliary Atresia; Chromosome Aberrations; Cystic Fibrosis; Female; Gallbladder; Humans; Pregnancy; Pregnancy Trimester, Second; Prospective Studies; Retrospective Studies; Ultrasonography, Prenatal
PubMed: 30809885
DOI: 10.1002/uog.20252 -
The Journal of Maternal-fetal &... Dec 2022To perform a systematic review of the literature available on the association between the presence of microbial invasion of the amniotic cavity (MIAC) and/or...
OBJECTIVE
To perform a systematic review of the literature available on the association between the presence of microbial invasion of the amniotic cavity (MIAC) and/or intra-amniotic inflammation and long-term neurodevelopmental outcomes of infants from pregnancies complicated by preterm prelabor rupture of membranes (PPROM).
METHODS
A literature search, from their earliest entries to May 2020, was performed by employing three electronic databases (Web of Science, PubMed, and Scopus). The selection criteria were as follows: (1) singleton pregnancies with PPROM; (2) available information regarding MIAC and/or intra-amniotic inflammation; (3) long-term (at least one year of the corrected age) neurodevelopmental outcomes of respective infants.
RESULTS
The initial search identified 10,953 articles, of which 8 were selected for full-text reading; however, none were included in the review owing to the following reasons: (i) spontaneous preterm labor with intact membranes and/or indicated (iatrogenic) preterm delivery were included in the studies without providing separate data for PPROM ( = 5); (ii) long-term, at least one year of the corrected age, neurodevelopmental outcomes of infants were not assessed ( = 1); (iii) the presence of both the abovementioned reasons ( = 1); (iv) amniotic fluid was not assessed, and a long-term neurodevelopmental outcome was not evaluated ( = 1).
CONCLUSION
The literature search provides evidence of a knowledge gap in the association between the presence of MIAC and/or intra-amniotic inflammation and long-term neurodevelopmental outcomes in infants with PPROM.
Topics: Pregnancy; Infant, Newborn; Female; Humans; Chorioamnionitis; Fetal Membranes, Premature Rupture; Amniotic Fluid; Inflammation; Gestational Age
PubMed: 33781152
DOI: 10.1080/14767058.2021.1903859 -
Experimental and Therapeutic Medicine Sep 2020Fetal goitrous hypothyroidism is a rare condition associated with important obstetrical, neonatal complications, and neurodevelopmental impairments. Prenatal treatment...
Fetal goitrous hypothyroidism is a rare condition associated with important obstetrical, neonatal complications, and neurodevelopmental impairments. Prenatal treatment remains controversial, and the risk to benefit ratio must be accurately assessed and considered for individualized management. The objective of this review was to evaluate the feasibility, safety, and effectiveness of the conservative treatment of fetal goitrous hypothyroidism. In total, 25 reports that met our inclusion criteria were selected and the management of 38 cases was analyzed. Prenatal diagnosis consisted mainly of ultrasonographic findings. Fetal thyroid status was assessed by cordocentesis. Prenatal treatment varied widely in terms of levothyroxine (LT4) route of administration, dosage, number of injections, and frequency. Although different regimens and routes of administration were proposed, they seem to have similar results regarding fetal goiter reduction and thyroid status at birth. At birth, most babies had hypothyroidism, but the long-term follow-up indicated a normal psycho-neuromotor development. Our data confirm the feasibility of conservative treatment with LT4 for fetal goitrous hypothyroidism. Further studies are needed to determine the optimal management of this disorder.
PubMed: 32765729
DOI: 10.3892/etm.2020.8794