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Current Opinion in Obstetrics &... Apr 2000Invasive prenatal diagnosis continues to be the gold standard for pregnancies at increased risk of chromosomal aneuploidy or other genetic disease. Chorionic villus... (Review)
Review
Invasive prenatal diagnosis continues to be the gold standard for pregnancies at increased risk of chromosomal aneuploidy or other genetic disease. Chorionic villus sampling is the procedure of choice for the first trimester. Early amniocentesis has been shown to carry increased risks of pregnancy loss, amniotic fluid leakage and talipes equinovarus. Mid-trimester amniocentesis continues to be the most common form of invasive prenatal diagnosis, with post-procedural loss rates of between 0.5 and 1%. This present review summarizes information on technique risks, looks at new technology applied to invasive prenatal diagnosis testing, and reports on new diagnoses that could be made either by amniocentesis or chorionic villus sampling.
Topics: Amniocentesis; Chorionic Villi Sampling; Female; Humans; Pregnancy
PubMed: 10813568
DOI: 10.1097/00001703-200004000-00005 -
Clinics in Obstetrics and Gynaecology Dec 1980
Review
Topics: Adult; Amniocentesis; Female; Fetoscopy; Genetic Counseling; Humans; Middle Aged; Pregnancy; Prenatal Diagnosis
PubMed: 7011645
DOI: No ID Found -
Current Opinion in Obstetrics &... Apr 2005The advantages and disadvantages of common invasive methods for prenatal diagnosis are presented in light of new investigations. (Review)
Review
PURPOSE OF REVIEW
The advantages and disadvantages of common invasive methods for prenatal diagnosis are presented in light of new investigations.
RECENT FINDINGS
Several aspects of first-trimester chorionic villus sampling and mid-trimester amniocentesis remain controversial, especially fetal loss rate, feto-maternal complications, and the extension of both sampling methods to less traditional gestational ages (early amniocentesis, late chorionic villus sampling), all of which complicate genetic counseling. A recent randomized trial involving early amniocentesis and late chorionic villus sampling has confirmed previous studies, leading to the unquestionable conclusion that transabdominal chorionic villus sampling is safer. The old dispute over whether limb reduction defects are caused by chorionic villus sampling gains new vigor, with a paper suggesting that this technique has distinctive teratogenic effects. The large experience involving maternal and fetal complications following mid-trimester amniocentesis allows a better estimate of risk for comparison with chorionic villus sampling.
SUMMARY
Transabdominal chorionic villus sampling, which appears to be the gold standard sampling method for genetic investigations between 10 and 15 completed weeks, permits rapid diagnosis in high-risk cases detected by first-trimester screening of aneuploidies. Sampling efficiency and karyotyping reliability are as high as in mid-trimester amniocentesis with fewer complications, provided the operator has the required training, skill and experience.
Topics: Amniocentesis; Chorionic Villi Sampling; Female; Fetal Movement; Humans; Pregnancy; Pregnancy Outcome; Pregnancy Trimesters; Randomized Controlled Trials as Topic; Reproducibility of Results; Time Factors
PubMed: 15758614
DOI: 10.1097/01.gco.0000162191.22091.e9 -
Seminars in Perinatology Dec 1990
Review
Topics: Amniocentesis; Female; Humans; Predictive Value of Tests; Pregnancy
PubMed: 2077666
DOI: No ID Found -
Journal of Perinatal Medicine 1995Literature concerning early genetic amniocentesis, obtained before 14-15 weeks of gestation, has been examined and compared. Key figures of post-procedural spontaneous... (Review)
Review
Literature concerning early genetic amniocentesis, obtained before 14-15 weeks of gestation, has been examined and compared. Key figures of post-procedural spontaneous fetal losses have been compared as well as cytogenetic data from the published series. Cytogenetically more samples fail to grow in the early weeks, but the diagnostic accuracy seems to be comparable with that of amniocentesis obtained in the later weeks. A sampling method, improving the cell yield by means of filtration, has been developed in order to lower the risk of culture failure and reduce the reporting time in the gestational weeks 11 to 13. The filter technique is under evaluation in a randomized trial. Detection of neural tube defects with early amniotic fluid sampling is possible, but whether the detection rate is comparable to that of standard amniocentesis remains to be seen. Although the safety of early amniocentesis has not yet been evaluated in a randomised study, data from almost 5,000 cases suggest that the procedure related loss rate is approximately 1%, and thus the same as for standard amniocentesis and chorionic villus sampling.
Topics: Amniocentesis; Chorionic Villi Sampling; Female; Humans; In Situ Hybridization; Pregnancy; Pregnancy Trimester, First; Prenatal Diagnosis; Safety; Time Factors
PubMed: 8568606
DOI: 10.1515/jpme.1995.23.3.149 -
American Journal of Obstetrics and... Aug 2004Genetic mid-trimester amniocentesis is a common invasive procedure. The origin of the commonly quoted 0.5% rate of procedure-related pregnancy loss after amniocentesis... (Review)
Review
OBJECTIVE
Genetic mid-trimester amniocentesis is a common invasive procedure. The origin of the commonly quoted 0.5% rate of procedure-related pregnancy loss after amniocentesis is obscure and is in conflict with the only randomized prospective study that reported a procedure-related rate of loss of 1.0%. This review was performed to establish an estimate of procedure-related pregnancy loss after mid-trimester amniocentesis. The impact of placental puncture on the rate of loss and the risk of direct needle injury to the fetus were also examined.
STUDY DESIGN
The National Library of Medicine database was used to identify English language reports of >1000 amniocenteses with sufficient detail and follow up data to allow the calculation of the rate of spontaneous pregnancy loss after amniocentesis but before 28 completed weeks. These reports were divided into 2 groups to assess the impact of the ultrasound technique. Group I described only preamniocentesis ultrasound evaluation; group II described primarily concurrent ultrasound needle guidance. Pregnancy loss between the 2 groups was compared. The impact of placental puncture and reported direct fetal trauma were examined. The significance of differences was tested using chi-square analysis, with significance at a probability value of < or =.05.
RESULTS
Twenty-nine reports that totaled 68,119 amniocenteses were examined. In a comparison of all studies in group I with all studies in group II, there was a lower rate of loss after amniocenteses with the use of concurrent guidance (1.4%) compared with the use of preamniocentesis ultrasound evaluation (2.1%) that was significant ( P <.001). Among only the 5 controlled studies that used preamniocentesis ultrasound evaluation, the difference in rate of loss between amniocentesis patients and control subjects was 0.6% ( P =.0042; 95% CI, 0.19, 1.03), which was identical to the difference in the rate of loss of 0.6% between amniocentesis patients and control subjects from the 5 controlled studies that used concurrent ultrasound needle guidance ( P <.0001; 95% CI, 0.31, 0.90). Multiple case reports and small series of presumed fetal needle trauma were reviewed, but most of these attributed causation to the amniocentesis needle based only on circumstantial association. Two cases with direct evidence of fetal needle trauma are discussed. Finally, the rate of loss after placental puncture from among 9 reports that provided this detail was 1.4% and not different from the overall rate of loss that was noted in group II.
CONCLUSION
This examination of experience with 68,119 amniocenteses from both controlled and uncontrolled studies provides a substantive basis for several conclusions: (1) Contemporary amniocentesis with concurrent ultrasound guidance in controlled studies appears to be associated with a procedure-related rate of excess pregnancy loss of 0.6% (95% CI, 0.31, 0.90). To determine the total rate of loss, this must be added to the reported natural rate of loss without amniocentesis among control patients of 1.08%. (2) The use of concurrent ultrasound guidance appears to reduce the number of punctures and the incidence of bloody fluid. Concurrent ultrasound guidance was associated with a reduced rate of loss when all studies were compared, but not among controlled studies. (3) Direct fetal needle trauma is rare, and rarely proved, but may occur more frequently than is reported because of a failure to diagnose and a failure of the consistent production of sequelae. (4) This experience does not substantiate an increased rate of pregnancy loss if placental puncture is required.
Topics: Abortion, Spontaneous; Amniocentesis; Female; Humans; Intraoperative Complications; Placenta; Pregnancy; Pregnancy Trimester, Second; Prenatal Injuries; Ultrasonography, Prenatal
PubMed: 15343248
DOI: 10.1016/j.ajog.2004.05.078 -
Archives of Gynecology and Obstetrics Aug 2023Several congenital abnormalities present late in pregnancy necessitating invasive testing to rule out genetic/infectious causes at late gestation. Not many studies have...
INTRODUCTION
Several congenital abnormalities present late in pregnancy necessitating invasive testing to rule out genetic/infectious causes at late gestation. Not many studies have described the indications/safety of a late gestation amniocentesis.
METHODS
All records of amniocentesis performed beyond 24 weeks were reviewed and evaluated for indications, positive yield and complications.
RESULTS
About 187 women had an amniocentesis after 24 weeks for various indications with CNS abnormalities being the commonest. The total yield of positive findings was 14.60% (22/150; excluding 2 VOUS). CNS, multiple system involvement and skeletal system anormalities yielded maximum results. About 32.05% abnormalities could have potentially been detected at the time of a routine anomaly scan. Amongst all the deliveries, 2.1% delivered spontaneously within a week of the procedure and about 5.4% delivered spontaneously within a month of the procedure.
CONCLUSION
The study emphasises the need for additional accreditation (FMF, ISUOG) of sonographers to ensure the detection of anomalies at the routine 18-20 weeks scan. Inspite of a normal mid-trimester scan, central nervous system and gastrointestinal abnormalities presented more commonly after 24 weeks. The high positive yield in our study highlights the importance of testing even in late pregnancy beyond the legal age of termination. The test could clearly stratify the pregnancies with a poor outcome whilst reassuring the others. The procedure itself did not lead to a neonatal death due to prematurity.
Topics: Adult; Humans; Infant, Newborn; Pregnancy; Abnormalities, Multiple; Amniocentesis; Delivery, Obstetric; Gestational Age; Pregnancy Trimester, Third; Premature Birth; Risk Factors; Female
PubMed: 35939110
DOI: 10.1007/s00404-022-06662-6 -
The Journal of Reproductive Medicine May 1992Early amniocentesis (EA) refers to any genetic amniocentesis performed prior to 15 weeks, 0 days' gestation. Because of technical problems, most practitioners stopped...
Early amniocentesis (EA) refers to any genetic amniocentesis performed prior to 15 weeks, 0 days' gestation. Because of technical problems, most practitioners stopped doing amniocenteses prior to 15 weeks' gestation in the late 1970s. The development of ultrasound-monitored needle insertion has allowed improved success and safety of sampling at earlier gestations, and improvements in laboratory techniques have allowed a high degree of success in culturing and processing low-volume samples. We present information on 1,805 early amniocenteses, of which 35% were performed prior to 14 weeks, 0 days' gestation. Our data indicate that with operator experience the success rate of the procedure can be similar to that seen with routine amniocentesis and that laboratory experience is not different from that with routine amniocentesis (RA) as measured by culture success, time to completion and accuracy. Pregnancy outcome, as measured by the gestational age at delivery, mode of delivery, birth weight and Apgar score, is indistinguishable between RA and EA patients. Although a randomized study is needed to accurately evaluate the fetal loss rate, the rate of birth defects and incidence of neonatal complications associated with EA procedures and examination of the crude rates for the above three parameters show that they compare favorably to the rates reported for patients who have undergone chorionic villus sampling or RA.
Topics: Abortion, Spontaneous; Amniocentesis; Apgar Score; Birth Weight; Cesarean Section; Chromosome Aberrations; Chromosome Disorders; Colorado; Evaluation Studies as Topic; Female; Gestational Age; Humans; Incidence; Massachusetts; Pregnancy; Pregnancy Outcome; Pregnancy Trimester, First; Time Factors; Ultrasonography, Prenatal
PubMed: 1507188
DOI: No ID Found -
Kinderarztliche Praxis Oct 1975
Review
Topics: Abdominal Muscles; Abortion, Spontaneous; Amniocentesis; Female; Genetic Diseases, Inborn; Gestational Age; Hematoma; Humans; Pregnancy; Prenatal Diagnosis; Uterus
PubMed: 127880
DOI: No ID Found -
Hormone Molecular Biology and Clinical... Sep 2019Background Amniocentesis is a well-known invasive procedure which is commonly carried out in the second trimester. The indication for amniocentesis varies throughout...
Background Amniocentesis is a well-known invasive procedure which is commonly carried out in the second trimester. The indication for amniocentesis varies throughout countries and centers. Despite providing significant prenatal diagnosis; many maternal and fetal complications have been reported from previous studies. Materials and methods This retrospective study aimed to determine the maternal and fetal complications following amniocentesis. This study involved all patients who underwent amniocentesis from January 2012 until June 2017 in a tertiary centre. Maternal age, parity, premorbid medical conditions, amniocentesis indications, gestational age during amniocentesis, karyotyping results, complications during and post procedure and the fetal outcomes were reviewed and analyzed. Results One hundred and fourteen patients' medical records were reviewed and the majority of patients (50.9%) ranged in age from age 30 to 39 years old with mean age of 34.29 years. Amniocentesis was performed during the second trimester in the majority of patients (71.1%). The indications for amniocentesis in this study were polyhydramnios (7.9%), advanced maternal age (9.6%), risk of Down's syndrome (31.6%), increased risk of Patau syndrome (6.1%), increased risk of Edward's syndrome (4.4%) and abnormal fetal ultrasonography (70.2%). Cytogenetics results of amniocentesis were normal in 82 patients (71.9%). The majority of patients (86.0%) had no complications. Two patients (12.5%) had intrauterine death presumed to be procedural related. Conclusion This 5-year retrospective study on amniocentesis procedure showed that the majority of amniocentesis were safe as 86.0% of the patients were free from any complications. Anticipating its complication is important as there is always a risk even though it is a safe procedure in general.
Topics: Adult; Amniocentesis; Female; Gestational Age; Humans; Maternal Age; Parity; Pregnancy; Pregnancy Outcome; Retrospective Studies; Young Adult
PubMed: 31539354
DOI: 10.1515/hmbci-2019-0006