Trimester Genetic Amniocentesis Research Articles

Assessment of Second Trimester Genetic Amniocentesis: A Review of 6 Years of Experience at Sanpatong Hospital, A Mid-level Secondary Hospital Setting

OBJECTIVE This study aims to assess the indications, complications, and outcomes of second-trimester genetic amniocentesis performed at Sanpatong Hospital, Chiang Mai, Thailand. METHODS A cross-sectional descriptive study analyzed data collected from high-risk pregnant women who underwent second-trimester genetic amniocentesis at Sanpatong Hospital between October 1st, 2016 and September 30th, 2022. The data include indications for the procedure, complications, and pregnancy outcomes. RESULTS A study of 451 women with high-risk pregnancies who underwent amniocentesis found that the most common indications for second trimester genetic amniocentesis were advanced maternal age (49.4%) and a high-risk Quad test (49.4%). Abnormal chromosomes were detected in 3.1% of cases, with aneuploidy the most common type (2.1%), primarily trisomy 21 (1.3%). The overall aspiration success rate was 100%. The only complications related to the procedure were pelvic pain (0.6%) and placental hematoma (0.2%). There were no fetal losses within 30 days after amniocentesis. The culture failure rate was 1.1%. Pregnancy outcomes included preterm delivery (12.3%) and normal term delivery (87.7%). CONCLUSIONS Performing second trimester genetic amniocentesis at Sanpatong Hospital, a mid-level secondary hospital, over a six-year period resulted in no fetal losses.

Reducing Pain after Second Trimester Genetic Amniocentesis by Postprocedural Cryotherapy: A Randomized Controlled Trial

Objective: To evaluate the effectiveness of cryotherapy on pain reducing after the second trimester genetic amniocentesis. Materials and Methods: A prospective randomized controlled trial was performed at Maternal-Fetal-Medicine (MFM) Unit at Thammasat University Hospital, Thailand between December 2019 and March 2020. The participants were pregnant women who underwent amniocentesis for genetic evaluation during the study period were divided into two groups, study and control. After finishing amniocentesis, study and control groups received jelly pack at temperature 4-degree Celsius and room temperature, respectively. The pain measurement was 10-cm visual analog scale (VAS) before, during, and 15 and 30 minutes after amniocentesis. Demographic characters and VAS score were recorded and evaluated. Results: Two hundred forty pregnant women between 15 and 22 weeks of gestation were recruited and equally allocated into two groups. There were no differences between the two group in demographic data, indication, anticipated, and actual pain scores (p=0.327 and 0.401, respectively). Median pain score at 15 and 30 minutes after the procedure in the study group were 1 and 0 (p=0.202) while in the control group it was 2 and 1 (0.039). Patients’ satisfaction after finishing the procedure was not significantly different. Conclusion: Cryotherapy was effective in decreasing maternal pain perception after amniocentesis. Keywords: Pregnancy; Amniocentesis; Cold pack; Cryotherapy; Pain

Subsequent gestational diabetes mellitus prediction in advanced maternal age using amniotic fluid glucose concentration during second trimester genetic amniocentesis

This prospective study aimed to present the reference range of amniotic fluid glucose (AFglu) among second trimester pregnant women in southern Thailand, to evaluate the possibility of predicting subsequent gestational diabetes mellitus (GDM) using AFglu, and to estimate AFglu cut-off levels for identifying pregnancies at high or low risk for subsequent GDM in singleton pregnancies undergoing genetic amniocentesis due to advanced maternal age. A total of 438 eligible pregnant women were analysed, among whom 58 were subsequently diagnosed as having GDM. The reference range that included the central 95% of AFglu values at 16, 17 and 18 weeks of gestation in women not subsequently developing GDM was determined from a linear regression model. Logistic regression was used to identify predictors of subsequent GDM. Odds ratio of subsequent diagnosed GDM participant increased by 7% for each 1 mg/dl increase in AFglu. Risk of subsequent GDM was also increased in women aged over 36 years and in 17–18 weeks compared to 16 weeks of gestation. Depending on gestational and maternal age, AFglu levels above 51 to 75 mg/dl were at elevated risk of subsequent GDM (likelihood ratio 2.38). We conclude that AFglu tended to decrease with increasing of gestational age. Gestational age and maternal age accompanied with elevated AFglu are predictive factors for subsequent GDM.

İkinci trimester genetik amniyosentezde işlem süresine etki eden faktörler

İkinci trimester genetik amniyosentezde işlem süresine etki eden faktörler

Comparison of the effectiveness of different counseling methods before second trimester genetic amniocentesis in Thailand

The objective of this study is to compare the effectiveness of counseling methods before second trimester genetic amniocentesis. The design of this study is a randomized controlled study comparing the improvement in patients' knowledge satisfaction anxiety and perceived pain between computer-assisted instruction (CAI) and leaflet self-reading (LSR) and subsequent individual counseling among pregnant women scheduled for second trimester genetic amniocentesis in a developing country. There were 164 and 157 participants in the LSR and CAI groups, respectively. In both groups, knowledge improved significantly after LSR/CAI (p < 0.001) and increased further after individual counseling (p < 0.001). After combined counseling, knowledge was significantly higher in the LSR than in the CAI group (p = 0.032). Knowledge was associated with higher level of education and previous exposure to genetic counseling. Pain decreased more in the CAI than in the LSR group after completion of counseling (p = 0.021). Reduction in anxiety and increase in satisfaction did not differ between the groups. Counseling method did not affect the final decision of patients to accept amniocentesis. Both counseling methods improved patients' knowledge and satisfaction and reduced pain and anxiety. In combination with individual counseling, LSR was more effective than CAI in improving patients' knowledge before second trimester genetic amniocentesis.

Efficacy of cryoanalgesia in decreasing pain during second trimester genetic amniocentesis: a randomized trial

To evaluate the effectiveness of cryoanalgesia in decreasing the degree of pain sensation during second trimester genetic amniocentesis. We performed a prospective randomized study comparing the anticipated and actual pain before and after second trimester genetic amniocentesis between pregnant women who received and did not receive cryoanalgesia. The pain was measured using the visual analog score (VAS), ranging from 0 to 10. Three hundred and seventy-two pregnant women participated in our study. One hundred and eighty-four and 188 pregnant women were randomized to cryoanalgesia received and non-cryoanalgesia received groups, respectively. The pre-procedure anxiety mean VAS scores and the anticipated pain mean VAS scores between the groups were not significantly different (P=0.25 and 0.18, respectively). The pre-procedure anxiety and the anticipated pain mean±SD VAS scores in the cryoanalgesia and non-cryoanalgesia groups were 5.7±0.37 vs. 8.0±0.82 and 5.4±1.34 vs. 5.6±1.42, respectively. The post-procedure pain and anxiety mean VAS scores in the cryoanalgesia group were statistically less significant than those from the non-cryoanalgesia group (mean±SD=3.2±1.60 and 3.8±1.58, respectively, P=0.004). Most pregnant women claimed to have experienced moderate pain and accepted to undergo a second trimester genetic amniocentesis again if indicated. Cryoanalgesia is effective in decreasing the pain sensation and could be routinely applied to all pregnant women before the second trimester genetic amniocentesis.

Fetal loss associated with second trimester amniocentesis

To evaluate the fetal loss rate associated with second trimester amniocentesis. All cases of pregnant women ≥35 years old with gestational age beyond 16 weeks between 1997 and 2006 were included in this study. The study group consisted of all cases that the patients decided to have second trimester genetic amniocentesis. The control group was a randomized selection of pregnant women who refused any procedures. The ratio of the study case to the control case was 2:1. The fetal loss rates after amniocentesis before 24, and 28 complete weeks and the pregnancy outcome were analyzed. 2,990 cases in the study group and 1,495 cases in the control group were used for this analysis. The mean maternal age in the study group and control group were 36.89 ± 1.63 and 36.78 ± 1.59 years old, respectively (P = 0.239). The procedure-related fetal loss before 24 and 28 complete weeks were 0.17 and 0.50%, respectively. The most common presenting symptom before fetal loss in the study cases was abdominal pain. Almost all of the cases leading to abortion had symptoms initiated after 48 h post procedure. Significantly higher chances of abortion occurred in pregnant women ≥41 years old (P = 0.008). The procedure-related fetal loss rates in pregnant women ≥35 years old after amniocentesis before 24 and 28 complete weeks were 0.17 and 0.50%, respectively. The certain factors influencing the risk of fetal loss might be independent of the amniocentesis procedure.

474: Prospective investigation of second trimester thrombin activation and preterm birth

474: Prospective investigation of second trimester thrombin activation and preterm birth

Perinatal outcomes after second trimester detection of amniotic fluid viral genome in asymptomatic patients

Symptomatic fetal viral infection can affect placental and fetal development and may lead to non-immune hydrops or fetal death. All infections are not detectable by clinical history or ultrasound and a background positivity rate exists in asymptomatic patients. We investigated if intraamniotic presence of viral genome at the time of genetic amniocentesis in asypmtomatic patients affects perinatal outcome. Six-hundred and eighty-six pregnancies referred for second trimester genetic amniocentesis with a normal ultrasound and fetal karyotype had amniotic fluid multiplex polymerase chain reaction for adeno-, cytomegalo-, Ebstein-Barr-, entero- and parvovirus. Forty asymptomatic patients that were positive for viral genome were matched 2:1 with negative controls. Perinatal outcomes were compared between these groups. Pregnancy complications and perinatal outcomes were similar in the two groups. Asymptomatic fetal viral infection at the time of second trimester amniocentesis does not increase the risk for adverse perinatal outcome.

626: Clinical utility of third trimester genetic amniocentesis

626: Clinical utility of third trimester genetic amniocentesis

P34.05: Complete chorion‐amnion separation as a complication of second trimester genetic amniocentesis: Case series and review of the literature

P34.05: Complete chorion‐amnion separation as a complication of second trimester genetic amniocentesis: Case series and review of the literature

OC123: Another look at fetal loss rate (FLR) following second trimester genetic amniocentesis (AMNIO): a single center's 16 year‐experience

OC123: Another look at fetal loss rate (FLR) following second trimester genetic amniocentesis (AMNIO): a single center's 16 year‐experience

Reducing pain with genetic amniocentesis—A randomized trial of subfreezing versus room temperature needles

Objective. To determine whether pain associated with second trimester genetic amniocentesis is decreased by using subfreezing rather than room temperature needles.Methods. Subjects were randomized to a −14°C or room temperature (20–22°C) 22-gauge spinal needle. Patients, blinded to allocation, recorded anticipated and actual pain before and after the procedure, respectively, using a 0–10 visual analog scale with 0 = no pain and 10 = excruciating pain.Results. Thirty-three subjects were randomized to room temperature and 29 subjects to subfreezing needles. Anticipated pain was similar in room temperature, 5.1 ± 1.7, and subfreezing groups, 4.9 ± 2.0, respectively (p = 0.6). Actual pain was also similar in the room temperature, 3.6 ± 2.0, and subfreezing groups, 2.8 ± 2.0, respectively (p = 0.14). Similar numbers of subjects in the room temperature and subfreezing groups reported less actual pain (20 vs. 18), greater actual pain (4 vs. 4) or no difference in pain (9 vs. 5) than anticipated (p = 0.6).Conclusion. A subfreezing 22-gauge spinal needle does not decrease perceived pain associated with second trimester genetic amniocentesis.

P14.70: Routine assessment of amniotic fluid alpha‐fetoprotein in second trimester genetic amniocentesis to detect fetal neural tube defects

The main aim of the study was to evaluate the clinical usefulness of routine assessment of amniotic fluid alpha-fetoprotein (AF-AFP) in second trimester genetic amniocentesis, to detect fetal neural tube defects (NTD). A secondary aim was to survey the routine for analyses of AF-AFP in obstetric clinics in Sweden today. This is a retrospective study. The studied population included all 1919 pregnant women, from the county hospitals of Norrköping and Jönköping, who underwent second trimester genetic amniocentesis, during the years 1993–2003. Indications for the genetic amniocentesis were elevated maternal age (> 35 years old) or increased anxiety for chromosomal defects of the expected baby. A questionnaire concerning policy and experience of AF-AFP analyses was sent to all obstetric clinics in Sweden who performed genetic amniocentesis in 2003. Of the 1811 analysis of AF-AFP, eight cases had increased values (0.4%) and five of them were false positive (63%). Of the three true positive cases, one had clinical relevance. In the other two cases the detection of NTD was of subordinate importance; one fetus had trisomy 18 and the other pregnancy was a missed abortion at the ultrasound check-up. In Sweden 91% (39/43) of the obstetric clinics perform routine assessment of AF-AFP at second trimester genetic amniocentesis, but according to the answers in the questionnaire only 8% of the clinics regarded the analyses useful in clinical practice. During 2003 about 8000 genetic amniocentesis were made in Sweden. We concluded that routine assessment of AF-AFP in second trimester genetic amniocentesis does not appear to be justified. The clinical usefulness seems to be limited, and the result of AF-AFP more often creates parental anxiety.

Genetic amniocentesis: a risk factor for preterm delivery?

Objective: To determine whether genetic amniocentesis performed in the second trimester of pregnancy is associated with the risk of preterm delivery. Study design: Case–control study performed in several departments of obstetrics and gynaecology of nine European countries. Three thousand and ninety-one preterm births and 5298 controls randomly selected from singleton births born at term during 1994–1997 were analysed. Logistic regression models were used to compare preterm births altogether and, separately, spontaneous preterm delivery and induced preterm delivery. Results: An increased risk of preterm delivery was found in women having second trimester genetic amniocentesis after taking account of other risk factors and confounding variables (odds ratios (OR)=1.59, 95% confidence intervals (95% CI): 1.31–1.92). The association was statistically significant and similar for spontaneous preterm delivery and induced preterm delivery. Conclusion: The study shows an association between preterm delivery and genetic amniocentesis. In view of the wide use of amniocentesis, further research on the etiologic role of this prenatal diagnostic technique is needed.

Pregnancy loss rates following second trimester genetic amniocentesis.

Data from 3,953 consecutive second trimester genetic amniocenteses were analysed to determine pregnancy loss rates up to 6 weeks after the procedure. Information was prospectively collected on a cohort of 3,685 women in 3,896 singleton and 50 twin pregnancies, from 2 operating sites in Perth, Western Australia, using 9 operators over the 6-year period, 1989 to 1995. Complete information regarding pregnancy outcome was obtained for 3,643 of the 3,685 women (98.9%). There were 27 identified singletons and 1 set of twins lost within 6 weeks following amniocentesis. The overall pregnancy loss rate in this cohort was 29 of 3,911 (0.74%). The pregnancy loss rate associated with genetic amniocentesis is not excessive in comparison to the calculated background pregnancy loss rate of 1%, and it is suggested that each prenatal diagnostic team should determine their own complication rates for the purpose of counselling prior to amniocentesis.

Intrauterine Viral Infection at the Time of Second Trimester Genetic Amniocentesis

Intrauterine Viral Infection at the Time of Second Trimester Genetic Amniocentesis

Intrauterine viral infection at the time of second trimester genetic amniocentesis

Objective: To determine whether preexisting intrauterine viral infection is associated with postamniocentesis pregnancy loss. Methods: We accessed our bank of second-trimester amniotic fluid (AF) samples obtained aseptically and stored at −20C from all 11,971 women who underwent genetic amniocentesis between 1988 and 1995. Samples were retrieved from every case of spontaneous pregnancy loss within 30 days of the amniocentesis (excluding aneuploidy and anomalies, n = 66). Sixty-six control samples were randomly chosen from subjects who delivered at term and were matched for year of test, gestational age, maternal age, and indication for amniocentesis. Investigators were blinded to the status of the samples, which were studied by polymerase chain reaction (PCR) for the presence of adenovirus, parvovirus, cytomegalovirus, Epstein-Barr virus, herpes simplex virus, enterovirus, influenza A virus, and β-actin DNA. Results were compared with interleukin-6 (IL-6) levels previously measured by enzyme-linked immunosorbent assay in the same samples. Results: Sixty-two study cases and 60 controls were sufficient for all PCR studies. Fourteen AF samples contained a single virus: five (8%) of 62 study cases and nine (15%) of 60 controls ( P = .27). Adenovirus accounted for nine (64%) of 14 viruses identified: four of 62 cases and five of 60 controls ( P = .74). Cytomegalovirus was not identified in any study cases but was found in three controls. The mean IL-6 levels in samples with and without virus were not significantly different (4.8 ± 15.9 ng/mL with virus compared with 2.0 ± 8.8 ng/mL without virus; P = .53). Conclusion: Presence of virus in second-trimester AF is not significantly associated with elevated IL-6 levels or with early postamniocentesis pregnancy loss.

Amniotic fluid alpha-fetoprotein determination at the time of genetic amniocentesis: has it outlived its usefulness?

The purpose of this retrospective study was to evaluate the utility of routine measurement of amniotic fluid alpha-fetoprotein levels at the time of second trimester genetic amniocentesis (mean gestational age, 17.3 weeks +/- 2.5 weeks standard deviation; median, 16.8 weeks; range, 15 to 22 weeks). During the study period 7174 patients underwent second trimester genetic amniocentesis. Outcome data were available in all cases. In 79 (1.1%) cases the amniotic fluid alpha-fetoprotein level was > or = 2.0 multiples of the median. Thirty-three of the 79 (42%) patients had normal ultrasonograms, and in 31 of 33 (94%) the amniotic fluid alpha-fetoprotein level was between 2.0 and 3.0 multiples of the median. Forty-six of the 79 (58%) patients had abnormal ultrasonographic findings, and of these, 82% were neural tube defects, abdominal wall defects, or cystic hygromas. Acetylcholinesterase was positive in 37 cases, all of which had abnormal ultrasonographic findings. None of the fetuses with negative findings on sonographic screening had detectable abnormalities at birth. In this study, with over 7000 patients, amniotic fluid alpha-fetoprotein and acetylcholinesterase levels did not increase the detection of fetal abnormalities. On the basis of these results, routine measurement of amniotic fluid alpha-fetoprotein level at the time of routine genetic amniocentesis (15 to 22 weeks) does not appear justified.

The use of color doppler ultrasound to identify fetuses at increased risk for trisomy 21: An alternative for high-risk patients who decline genetic amniocentesis

To compare color Doppler ultrasound with real-time ultrasound to determine whether it increased the identification of fetuses with trisomy 21. Consecutive fetuses with a second trimester risk greater than 1:270 for trisomy 21 were examined with real-time ultrasound (n = 1028) or real-time plus color Doppler ultrasound (n = 1028) before second trimester genetic amniocentesis. The type of abnormal ultrasound findings were compared between fetuses with normal and abnormal chromosomes. Using the Bayes theorem, the ultrasound-adjusted maternal age-related risk (posterior risk) for trisomy 21 was computed after a normal or abnormal real-time plus color Doppler examination. A significantly greater number of fetuses with trisomy 21 (87% [13 of 15] versus 29% [5 of 17], P < .002) were identified with real-time plus color Doppler than with real-time ultrasound. Color Doppler ultrasound identified a significantly higher rate of cardiovascular abnormalities in fetuses with trisomy 21 (60% [9 of 15] versus 12% [2 of 17], P < .008) than did real-time ultrasound. Identification of abnormal fetal anatomy using real-time plus color Doppler in patients 35 years and older increases the likelihood of detecting trisomy 21. A normal real-time plus color Doppler examination of the fetus decreases the risk for trisomy 21 to less than 1:270 until the maternal age of 42, above which the risk for trisomy 21 is greater than 1:270. Real-time plus color Doppler ultrasound examination of the fetus is an alternative for the identification of trisomy 21 for patients who may decline genetic amniocentesis based on their age-related risk.