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Obstetrics and Gynecology May 2020To examine the relationship between prenatal diagnostics (ultrasound examination and amniotic fluid Zika virus testing) and postnatal congenital Zika syndrome...
OBJECTIVE
To examine the relationship between prenatal diagnostics (ultrasound examination and amniotic fluid Zika virus testing) and postnatal congenital Zika syndrome abnormalities.
DATA SOURCES
Systematic searches were performed in 27 databases, including ClinicalTrials.gov, from inception to July 1, 2019, for articles with the keywords "Zika," "prenatal," "ultrasound," and "amniocentesis."
METHODS OF STUDY SELECTION
A total of 3,049 unique records were identified. Two reviewers independently assessed titles, abstracts, and full texts for relevance; 84 articles met the inclusion criteria. These articles describe 402 mother-fetus or mother-neonate dyads; 385 were included in the review of prenatal ultrasound examination, and 56 in the review of amniocentesis (39 in both).
TABULATION, INTEGRATION, AND RESULTS
Among 195 fetuses with congenital Zika syndrome findings on prenatal ultrasound examination, postnatal congenital Zika syndrome abnormalities were reported for 153 (78%; 95% CI 7-84%). High proportions of microcephaly (76%; 95% CI 69-82%) and brain abnormalities (78%; 95% CI 69-86%) were confirmed postnatally. Among 190 fetuses without congenital Zika syndrome findings on prenatal ultrasound examination, 17% (95% CI 12-24%) had congenital Zika syndrome abnormalities identified postnatally. Structural congenital Zika syndrome abnormalities were identified postnatally in approximately equal proportions among dyads with and without Zika virus RNA detected in an amniotic fluid specimen (68% and 67%; 95% CI 52-82% and 95% CI 38-88%). In six pregnancies, Zika virus RNA was detected in amniotic fluid but not in a subsequent amniocentesis specimen.
CONCLUSION
Prenatal ultrasound examination frequently detects structural findings associated with Zika virus infection; however, not all abnormalities are detected, and some may represent transient findings. As with other congenital infections, prenatal detection may vary with timing of infection, timing of ultrasound examination, technical expertise, and severity of abnormalities. The detection of Zika virus RNA in amniotic fluid in the included studies did not predict the risk for congenital Zika syndrome abnormalities in these cases, and clearance of Zika virus RNA from amniotic fluid appears possible after maternal infection. Diagnostic testing for Zika virus infection remains a shared decision between patients and clinicians, and more data are needed to define clinical predictors that will inform these decisions.
SYSTEMATIC REVIEW REGISTRATION
PROSPERO, CRD42018080959.
Topics: Adult; Amniocentesis; Female; Fetal Diseases; Humans; Pregnancy; Ultrasonography, Prenatal; Young Adult; Zika Virus; Zika Virus Infection
PubMed: 32282593
DOI: 10.1097/AOG.0000000000003829 -
Taiwanese Journal of Obstetrics &... Jul 2021This study aimed to compare the risks of amniocentesis between anteriorly located placentas and placentas in other locations and assess the factors that cause... (Comparative Study)
Comparative Study
OBJECTIVE
This study aimed to compare the risks of amniocentesis between anteriorly located placentas and placentas in other locations and assess the factors that cause procedure-related complications.
MATERIALS AND METHODS
We prospectively studied women with singleton pregnancies who underwent amniocentesis between 2014 and 2020. The amniocentesis puncture sites were determined using ultrasonography. Women were classified into two groups according to their placental location. Medical records were retrospectively reviewed and characteristics and complications were compared between the groups of patients with different placental locations.
RESULTS
During the study period, 629 women underwent amniocentesis. Three cases (0.5%) of premature rupture of membranes and one case (0.3%) of fetal loss within four weeks of amniocentesis were found. Puncture failure was observed in 14 cases (2.2%). Puncture failure included procedures with failure to obtain an adequate sample and procedures requiring more than three needle insertions. There was no significant difference in the frequency of puncture failure between the two groups. Logistic regression analysis revealed that uterine myoma (odds ratio [OR] 11.92; 95% CI, 3.04-45.17) and tenting membrane (OR 33.57; 95% CI, 6.45-178.41) were associated with puncture failure.
CONCLUSION
Anteriorly located placenta is not a risk factor for amniocentesis-related adverse outcomes. Instead, puncture failure frequently occurs in case of uterine myoma and tenting membrane. If puncture failure occurs, or if the puncture is difficult to perform, then the procedure should be considered technically difficult and postponed until it can be more easily performed.
Topics: Abortion, Spontaneous; Adult; Amniocentesis; Female; Fetal Membranes, Premature Rupture; Humans; Leiomyoma; Logistic Models; Odds Ratio; Placenta; Placenta Diseases; Pregnancy; Pregnancy Complications, Neoplastic; Prospective Studies; Retrospective Studies; Risk Factors; Uterine Neoplasms
PubMed: 34247808
DOI: 10.1016/j.tjog.2021.05.018 -
Taiwanese Journal of Obstetrics &... Mar 2014The aim of this study is to present the incidence, prenatal and postnatal findings, and modes of ascertainment in chromosomal deletions detected at amniocentesis.
OBJECTIVE
The aim of this study is to present the incidence, prenatal and postnatal findings, and modes of ascertainment in chromosomal deletions detected at amniocentesis.
MATERIALS AND METHODS
We reviewed all the cases with chromosomal deletions, which were detected by amniocentesis in Mackay Memorial Hospital, Taipei, Taiwan, between January 1987 and December 2012. Data on the locations and types of deletion, reasons for performing amniocentesis, maternal age, gestational age at amniocentesis, fetal karyotypes, inheritance of deletions, and relative prenatal findings were collected.
RESULTS
Amniocentesis was performed in 33,305 cases within this period of time. Among these, 31 cases of chromosomal deletions were considered for the study. The mean gestational age at amniocentesis was 21.0 weeks (range from 15 weeks to 32 weeks) and the mean maternal age at amniocentesis was 32.1 years (range from 26 years to 37 years). Nineteen cases (61.3%) manifested fetal structural abnormalities on ultrasound, nine (29.0%) presented no ultrasound abnormalities, and three had an unknown status. The main modes of ascertainment included abnormal ultrasound findings in 10 cases (32.2%), advanced maternal age in 11 cases (35.5%), abnormal maternal serum screening results in six cases (19.6%), and other reasons in four cases (13.0%). Of the 27 cases with known inheritance, the deletion was inherited in two (6.6%) and de novo in 25 (92.6%). Males accounted for 11 (35.5%) and females for 20 (64.5%) cases. Chromosomal deletions are more often to occur in chromosomal 5(4 cases, 12.9%), chromosomal 18 (4 cases, 12.9%), chromosomal 4 (3 cases, 9.7%), chromosomal 7 (3 cases, 9.7%), chromosomal 10 (3 cases, 9.7%), chromosomal 11 (3 cases, 9.7%), and chromosomal 1 (2 cases, 6.5%). There were four cases of chromosomal mosaicism: two involved chromosome 5, one involved chromosome 10, and one involved chromosome 18. Twenty-three cases (74.2%) had terminal deletions and the other eight cases (26.7%) had interstitial-type deletions.
CONCLUSION
In summary, we have presented the results of prenatal diagnosis for chromosomal deletions using amniocentesis. Chromosomal deletions are more likely to occur in females and more often in chromosomal 5p and 18q. Prenatal diagnosis at amniocentesis is frequently associated with advanced maternal age, abnormal ultrasound findings, and abnormal maternal serum screening. The frequency of ascertainment in chromosome deletion seems to be directly correlated with advanced maternal age and abnormal ultrasound findings. In cases with terminal deletions, prenatal ultrasound plays a more important role for prenatal diagnosis.
Topics: Abnormal Karyotype; Adult; Amniocentesis; Chromosome Deletion; Chromosome Disorders; Female; Fetal Diseases; Humans; Incidence; Male; Maternal Age; Mosaicism; Pregnancy; Taiwan
PubMed: 24767649
DOI: 10.1016/j.tjog.2013.02.003 -
Taiwanese Journal of Obstetrics &... Aug 2015To present prenatal diagnosis of mosaic trisomy 15 at amniocentesis. (Review)
Review
OBJECTIVE
To present prenatal diagnosis of mosaic trisomy 15 at amniocentesis.
MATERIALS AND METHODS
A 37-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Cytogenetic analysis of cultured amniocytes revealed a karyotype of 47,XY,+15[2]/46,XY[17]. She was referred for repeated amniocentesis at 19 weeks of gestation. Array comparative genomic hybridization (aCGH), interphase fluorescence in situ hybridization (FISH) and quantitative fluorescent polymerase chain reaction assays on uncultured amniocytes, conventional cytogenetic analysis and aCGH on cultured amniocytes, and FISH on uncultured urinary cells after birth were applied. Cordocentesis revealed a karyotype of 46,XY.
RESULTS
At repeated amniocentesis, cultured amniocytes revealed a karyotypes of 46,XY [22 colonies], FISH on uncultured amniocytes revealed 21.2% (22/104 cells) mosaicism for trisomy 15, aCGH on uncultured amniocytes revealed a genomic gain (log2 ratio = 0.3) in chromosome 15, quantitative fluorescent polymerase chain reaction on uncultured amniocytes excluded uniparental disomy 15 (UPD 15), and aCGH on culture amniocytes revealed no genomic imbalance in chromosome 15. A healthy 3700 g male baby was delivered at 38 weeks of gestation with no phenotypic abnormalities at age 6 months. FISH on uncultured urinary cells at birth and at age 6 months revealed mosaic trisomy 15 levels of 20% (13/65 cells) and 12.2% (6/49 cells), respectively.
CONCLUSION
Prenatal diagnosis of mosaic trisomy 15 at amniocentesis should alert doctors about the occurrence of UPD 15 and a clinically significant phenotype. The present case provides evidence for cytogenetic discrepancy between uncultured and cultured amniocytes in mosaic trisomy 15 at amniocentesis. It is possible that the abnormal cell lines of amniocytes with trisomy 15 disappear after long-term cell culture.
Topics: Adult; Amniocentesis; Chromosomes, Human, Pair 15; Cytogenetic Analysis; Female; Fetal Development; Humans; In Situ Hybridization, Fluorescence; Infant, Newborn; Karyotyping; Male; Maternal Age; Mosaicism; Pregnancy; Pregnancy Outcome; Pregnancy Trimester, Second; Prenatal Diagnosis; Reference Values; Risk Assessment; Trisomy; Uniparental Disomy
PubMed: 26384064
DOI: 10.1016/j.tjog.2015.06.002 -
Taiwanese Journal of Obstetrics &... Nov 2023We present 45,X/46,XX at the first amniocentesis, and 45,X/47,XXX/46,XX at the repeat amniocentesis and at birth in a pregnancy associated with a favorable fetal...
45,X/46,XX at the first amniocentesis, and 45,X/47,XXX/46,XX at the repeat amniocentesis and at birth in a pregnancy associated with a favorable fetal outcome, perinatal progressive decrease of the 45,X cell line and cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes.
OBJECTIVE
We present 45,X/46,XX at the first amniocentesis, and 45,X/47,XXX/46,XX at the repeat amniocentesis and at birth in a pregnancy associated with a favorable fetal outcome, perinatal progressive decrease of the 45,X cell line and cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes.
CASE REPORT
A 43-year-old, gravida 3, para 1, woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 45,X[4]/46,XX[20]. Simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes revealed arr (X) × 3 [0.24], consistent with 24% mosaicism for triple X. Repeat amniocentesis at 20 weeks of gestation revealed the result of 45,X[17]/47,XXX[8]/46,XX[121]. She was referred for genetic counseling, and the third amniocentesis performed at 30 weeks of gestation revealed the result of 45,X[3]/47,XXX[2]/46,XX[16]. The mother had a karyotype of 46,XX. aCGH analysis on the DNA extracted from uncultured amniocytes showed arr Xp22.33q28 × 2.2 (log ratio = 0.15), consistent with 20% mosaicism for triple X. Interphase fluorescence in situ hybridization (FISH) analysis on 100 uncultured amniocytes showed that 11 cells (11%) were monosomy X, seven cells (7%) were triple X, and the others were disomy X. At 39 weeks of gestation, a 3,620-g phenotypically normal female baby was delivered without any phenotypic abnormality. The karyotypes of cord blood, umbilical cord and placenta were 47,XXX[7]/45,X[1]/46,XX[32], 47,XXX[13]/46,XX[27] and 47,XXX[2]/46,XX[38], respectively. When follow-up at age one month, the neonate was phenotypically normal, and FISH analysis on 106 buccal mucosal cells showed that eight cells (7.5%) were monosomy X, seven cells (6.6%) were triple X, and the others were disomy X.
CONCLUSION
Mosaic 45,X/46,XX at amniocentesis may be in fact mosaic 45,X/47,XXX/46,XX and can be associated with a favorable fetal outcome and perinatal progressive decrease of the 45,X cell line.
Topics: Pregnancy; Infant, Newborn; Female; Humans; Adult; Amniocentesis; Comparative Genomic Hybridization; In Situ Hybridization, Fluorescence; Turner Syndrome; Trisomy; Karyotyping; Mosaicism; Cell Line; DNA
PubMed: 38008512
DOI: 10.1016/j.tjog.2023.09.004 -
Taiwanese Journal of Obstetrics &... Dec 2012An increase in the proportion of male-to-female live births has raised concerns in Taiwan. Disclosure of fetal sex during prenatal screening is not allowed by the Taiwan...
OBJECTIVES
An increase in the proportion of male-to-female live births has raised concerns in Taiwan. Disclosure of fetal sex during prenatal screening is not allowed by the Taiwan government. Fetal sex annotation in clinical genetic reports is also prohibited. This study tested the hypothesis that the male-to-female sex ratio at amniocentesis should be lower than the sex ratio at birth, if a certain percentage of female fetuses are being selectively aborted after amniocentesis. Therefore, we examined the differences between fetal sex ratio at amniocentesis at a tertiary medical center in southern Taiwan and the nationwide sex ratio at birth in Taiwan from 1992 to 2011.
MATERIALS AND METHODS
Data of normal male and female karyotypes during the study period were collected from the cytogenetic laboratory of the National Cheng Kung University Hospital (NCKUH) in southern Taiwan. Data of sex ratio at birth nationwide in Taiwan were obtained from the Department of Statistics, Ministry of the Interior, Taiwan. We calculated 95% binominal confidence intervals for the sex ratios and differences between fetal sex ratio at amniocentesis, and nationwide sex ratio at birth were tested by the χ(2) test and Bonferroni correction.
RESULTS
The nationwide sex ratio at birth ranged from 1.07 to 1.11 during the period from 1992 to 2011 in Taiwan, with the highest in 2004 and the lowest in 1993. The fetal sex ratio at amniocentesis at NCKUH ranged more widely (0.82-1.28), with the lowest in 1993 and the highest in 2007. After regression analysis, both trends of sex ratio at amniocentesis during midtrimester and at birth were not significantly increased by years. Furthermore, the sex distribution at amniocentesis during midtrimester did not differ significantly from the nationwide sex ratio at birth (1.113 vs. 1.092, p = 0.151).
CONCLUSIONS
The results showed that sex ratio was already skewed toward male at midtrimester. Our data imply that artificial sex selection, if it were present, might have already emerged prior to the timing of amniocentesis. However, more large nationwide studies on sex ratios in Taiwan are warranted.
Topics: Amniocentesis; Chi-Square Distribution; Confidence Intervals; Female; Humans; Live Birth; Male; Regression Analysis; Sex Determination Analysis; Sex Ratio; Taiwan; Vital Statistics
PubMed: 23276560
DOI: 10.1016/j.tjog.2012.09.012 -
Taiwanese Journal of Obstetrics &... Oct 2016We present prenatal diagnosis and molecular genetic analysis of mosaic trisomy 17 and a review of the literature of mosaic trisomy 17 at amniocentesis. (Review)
Review
OBJECTIVE
We present prenatal diagnosis and molecular genetic analysis of mosaic trisomy 17 and a review of the literature of mosaic trisomy 17 at amniocentesis.
MATERIALS AND METHODS
A 42-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age, which revealed a karyotype of 47,XX,+17[4]/46,XX[17]. Prenatal ultrasound findings were unremarkable. She underwent repeat amniocentesis at 20 weeks of gestation. Interphase fluorescence in situ hybridization (FISH), array comparative genomic hybridization, and quantitative fluorescent polymerase chain reaction assays were applied to uncultured amniocytes. Conventional cytogenetic analysis was applied to cultured amniocytes and cord blood. Interphase FISH was applied to uncultured urinary cells postnatally.
RESULTS
At repeat amniocentesis, molecular genetic analysis of uncultured amniocytes revealed no genomic imbalance in array comparative genomic hybridization, no uniparental disomy 17 in quantitative fluorescent polymerase chain reaction, and 4.7% (5/105 cells) mosaic trisomy 17 in interphase FISH analysis. Conventional cytogenetic analysis of cultured amniocytes revealed a karyotype of 46,XX (17/17 colonies). A phenotypically normal baby was delivered at 38 weeks of gestation. The cord blood had a karyotype of 46,XX. Interphase FISH analysis of uncultured urinary cells revealed 5.6% (5/90 cells) mosaic trisomy 17. The neonate manifested normal growth and psychomotor development during follow-ups.
CONCLUSION
Low-level mosaicism for trisomy 17 detected by amniocentesis without ultrasound abnormality can be associated with a favorable outcome. Molecular genetic analysis of uncultured amniocytes at repeat amniocentesis is useful for genetic counseling. A review of the literature shows a correlation between an adverse fetal outcome and a higher trisomy 17 mosaicism level at amniocentesis associated with ultrasound abnormality.
Topics: Adult; Amniocentesis; Chromosomes, Human, Pair 17; Cytogenetic Analysis; Female; Humans; Infant, Newborn; Karyotyping; Maternal Age; Mosaicism; Pregnancy; Prenatal Diagnosis; Trisomy
PubMed: 27751421
DOI: 10.1016/j.tjog.2016.07.006 -
Archives of Gynecology and Obstetrics Mar 2022
Topics: Amniocentesis; COVID-19; Female; Humans; Pandemics; Pregnancy; Prenatal Diagnosis; SARS-CoV-2
PubMed: 34618213
DOI: 10.1007/s00404-021-06276-4 -
Ultrasound in Obstetrics & Gynecology :... Oct 2019To estimate the procedure-related risks of miscarriage following chorionic villus sampling (CVS) and amniocentesis in a large unselected screened population, and to... (Comparative Study)
Comparative Study
OBJECTIVES
To estimate the procedure-related risks of miscarriage following chorionic villus sampling (CVS) and amniocentesis in a large unselected screened population, and to determine whether these risks are consistent with those reported in systematic reviews and meta-analyses.
METHODS
This was a retrospective cohort study carried out on data obtained from a large fetal medicine unit in the UK between January 2009 and May 2018. We included all women with singleton pregnancy who booked for pregnancy care at our unit before 20 weeks' gestation, after excluding those with multiple pregnancy, major fetal defect, pregnancy termination and loss to follow-up. We estimated the risk of miscarriage in women who underwent a CVS or amniocentesis as well as in those who did not have an invasive procedure. The procedure-related risk of miscarriage was estimated as risk difference (95% CI) between the two groups. Univariate and multivariate regression analyses were used to derive odds ratios (95% CI) and determine which maternal and pregnancy characteristics provided a significant contribution in the prediction of miscarriage and whether CVS or amniocentesis provided a significant independent contribution.
RESULTS
During the study period, 45 120 singleton pregnancies were booked for pregnancy care at our hospital, of which 1546 had an invasive procedure. We excluded 1429 (3.2%) pregnancies due to fetal defects, termination of pregnancy or missing outcomes. Of the 43 691 pregnancies included in the study population, 861 underwent CVS and 375 amniocentesis. In pregnancies that underwent CVS, the risk of miscarriage was 1.5% (13/861), compared with 1.2% (476/39 152) in pregnancies that had first-trimester combined screening and did not have an invasive procedure (P = 0.437). In pregnancies that underwent an amniocentesis, the risk of miscarriage was 0.8% (3/375), compared with 1.2% (491/42 463) in those that did not undergo an invasive procedure (P = 0.520). Univariate and multivariate regression analysis demonstrated that there was no significant contribution in the prediction of the risk of miscarriage from CVS (P = 0.399 and P = 0.592, respectively) or amniocentesis (P = 0.543 and P = 0.550, respectively). The risk of procedure-related loss attributed to CVS was 0.29% (95% CI, -0.53 to 1.12%) and that following amniocentesis was -0.36% (95% CI, -1.26 to 0.55%), which was not significantly different from the risk in women who did not have any procedure.
CONCLUSIONS
The procedure-related risks of miscarriage following CVS and amniocentesis in our study are considerably lower than those currently quoted and are consistent with the estimates of such risks reported by systematic reviews and meta-analyses. Copyright © 2019 ISUOG. Published by John Wiley & Sons Ltd.
Topics: Abortion, Spontaneous; Adult; Amniocentesis; Aneuploidy; Chorionic Villi Sampling; Female; Gestational Age; Humans; Pregnancy; Pregnancy Outcome; Pregnancy Trimester, First; Pregnancy Trimester, Second; Prenatal Care; Retrospective Studies; Risk Assessment; Risk Factors; United Kingdom
PubMed: 30977213
DOI: 10.1002/uog.20293 -
British Medical Journal Dec 1978
Topics: Adult; Amniocentesis; Female; Fetal Death; Humans; Infant, Newborn; Joints; Pregnancy; Pregnancy Complications; Risk Assessment
PubMed: 737430
DOI: No ID Found