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Objective: To compare the short-term outcomes of two different-sized needles for genetic amniocentesis. Materials and Methods: A total of 271 amniocentesis were retrospectively evaluated in 2 groups concerning the size of the needles used during the procedure: Conventional 20-gauge (G) (n=164) and 22G (n=107). Periprocedural complications and cost-effectiveness were compared across the groups. Results: There were no differences between groups concerning complications within 15 days after the procedure (fetal loss, 0.6% versus 0.9%, and amniotic fluid leak 1.2% versus 1.8%, p=0.99 for each). The 22G needle was significantly more cost efficient (p

Mid-trimester amniocentesis continues to be used for the prenatal diagnosis of chromosomal anomalies and other genetic disorders. Analysis of amniotic fluid obtained at the time of mid-trimester genetic amniocentesis identifies those patients who are at risk for early spontaneous preterm delivery. This is based on a solid body of evidence that found subclinical intra-amniotic inflammation/infection to be causally linked to early spontaneous preterm birth. Although several biomarkers have been proposed to identify intra-amniotic inflammation, the accumulated data suggest that the determination of amniotic fluid matrix metalloproteinase-8 (MMP-8), or neutrophil collagenase, is a powerful predictor of spontaneous preterm delivery. MMP-8 is released by inflammatory cells in response to microbial products or "danger signals". A rapid point-of-care test has been developed to determine MMP-8 at the bedside within 20 min, and without the requirement of laboratory equipment. The objective of this study was to determine whether an elevation of MMP-8 in the amniotic fluid, measured by a rapid point-of-care test, can identify those patients at risk for spontaneous preterm delivery after a mid-trimester genetic amniocentesis.A case-control study was designed to obtain amniotic fluid from asymptomatic singleton pregnant women who underwent mid-trimester genetic amniocentesis. An MMP-8 bedside test was performed to analyze the amniotic fluid of 64 patients with early spontaneous preterm delivery (30 weeks) and 128 matched controls with normal pregnancy outcomes.(1) The MMP-8 bedside test (Yoon's MMP-8 Check™) was positive in 42.2% (27/64) of patients with spontaneous preterm delivery but in none (0/128) of the control cases (p 0.001); (2) the MMP-8 bedside test had a sensitivity of 42.2%, and a specificity of 100% in the prediction of spontaneous preterm delivery (30 weeks) following a mid-trimester genetic amniocentesis; and (3) among the patients with spontaneous preterm delivery, those with a positive MMP-8 bedside test had a significantly higher rate of spontaneous delivery within 2 weeks and 4 weeks of an amniocentesis [40.7% (11/27) versus 5.4% (2/37); 63.0% (17/27) versus 24.3% (9/37)] and a shorter interval-to-delivery period than those with a negative test [interval-to-delivery: median (range), 16 d (0-95 d) versus 42 d (2-91 d); p 0.05 for each].We conclude that 42% of patients with an early spontaneous preterm delivery ( 30 weeks) could be identified by a rapid MMP-8 bedside test at the time of their mid-trimester genetic amniocentesis. The MMP-8 bedside test is a powerful predictor of early spontaneous preterm birth in asymptomatic pregnant women.

Objectives To identify maternal-, operator-and procedure-related variables that affect procedure-related pregnancy loss after transcervical (TC) and transabdominal (TA) chorionic villus sampling (CVS) and amniocentesis and to estimate the rates of spontaneous and procedure-related loss in comparable subgroups of women.Methods This was a retrospective cohort study conducted at the University Medical Center Groningen and the Academic Medical Center, The Netherlands. Databases of both centers were searched to identify singleton pregnancies that had undergone a combined test and/or anomaly scan at around 20 weeks' gestation, or an invasive procedure (CVS and/or amniocentesis) between January 2001 and December 2011. Maternal characteristics, obstetric history, technical aspects of the invasive procedure, ultrasound examinations and fetal and neonatal outcomes were available for 29 201 cases. Women were categorized, according to the type of examination they had received, into the following five groups: first-trimester combined test (and 20-week anomaly scan); 20-week anomaly scan only; CVS; amniocentesis; amniocentesis after unsuccessful CVS. Rates of fetal loss were compared between groups.Results Variables significantly associated with a higher rate of fetal loss were, for CVS, repeat attempts during the procedure, use of TC cannula instead of biopsy forceps, gestational age at procedure >= 13 weeks and a pregnancy after assisted reproductive techniques, and, for amniocentesis, if indication was fetal anomaly or family history of anomalies and repeat attempts during the procedure. In women aged >= 36 years who did not undergo an invasive procedure, spontaneous fetal loss rate (FLR) after first-trimester combined test was 1.40%, whereas after CVS, FLR was 2.76% and 2.43% for a TC and TA approach, respectively. The additional risk of fetal loss with TC-CVS was therefore 1.36% (1 : 74), which varied according to the instrument used (0.27% for forceps and 3.12% for cannula), and with TA-CVS was 1.03% (1 : 97). In women aged >= 36 years who underwent a 20-week anomaly scan only, spontaneous FLR was 0.63%. In women who underwent amniocentesis solely because of advanced maternal age, FLR was 1.11%. The additional risk of fetal loss with amniocentesis was 0.48% (1 : 208).Conclusion The total rate of procedure-related fetal loss after TA-and TC-CVS and amniocentesis appears lower than the risks on which women are currently counseled. There was a trend for a decrease in risk when the level of experience of the operator increased. Copyright (C) 2016 ISUOG. Published by John Wiley & Sons Ltd.

Antecedentes. El higroma quístico retronucal es el marcador de anomalías cromosómicas identificado con mayor frecuencia en el tamizaje del primer trimestre. Objetivo. Evaluar la asociación del higroma quístico retronucal y anomalías cromosómicas diagnosticadas con el cariotipo, entre el primer y segundo trimestre del embarazo. Diseño. Estudio retrospectivo. Institución. Instituto Latinoamericano de Salud Reproductiva (ILSAR), Lima, Perú. Pacientes. Fetos con higroma quístico retronucal. Método. Estudio de fetos con higroma quístico retronucal, obtenidos de la base de datos de ILSAR, entre agosto del 2007 y mayo del 2018, diagnosticados por ecografía entre las 11 y 13,6 semanas. El higroma quístico retronucal se definió como la presencia de contenido líquido tabicado en el corte axial retronucal con un grosor mayor al percentil 95 del valor de translucencia nucal aumentada para la longitud corona-nalga. Se obtuvo el cariotipo entre el primer y segundo trimestre en material obtenido por biopsia de vellosidades coriales (BVC) o amniocentesis (AMC). Principales medidas de resultados. Los resultados del cariotipo fueron comparados entre los casos de higroma quístico solo y los casos que tuvieron higroma y adicionalmente otro marcador. Resultados. De un total de 459 procedimientos invasivos realizados en fetos con alto riesgo para anomalías cromosómicas en base al Fetal test de España, hubieron 162 casos de anomalías cromosómicas (35,3%) y se identificó 104 casos de higroma quístico retronucal (22s7%). El hallazgo de higroma quístico retronucal se asoció con mayor presencia de anomalías cromosómicas, comparado con los fetos sin higroma quístico (52,9% vs. 30,1%; p

Procalcitonin (PCT) is an acute-phase protein that has been infrequently studied in amniotic fluid. We sought to determine if PCT levels measured in amniotic fluid samples at the time of genetic amniocentesis are predictive of preterm delivery.A retrospective cohort study was performed on all women presenting for genetic amniocentesis between 15-23 weeks of pregnancy at our institution from 2011 to 2013 with stored amniotic fluid samples. PCT protein levels were measured in the samples by enzyme-linked immunosorbent assay (ELISA). PCT levels in women who delivered less than 37 weeks versus those who delivered at or after 37 week were compared. Mann-Whitney test was used.Eighty-seven samples were available for analysis and of these eight (9.2%) were from patients who delivered preterm. Sixty-two (70%) had PCT levels below the lower limit of quantification, which was 25 pg/mL. Median PCT levels did not differ between the preterm and term group [20.4 pg/mL (range 0-82.8) and 20.2 pg/mL (range 0-198.4), respectively, p = .95].In asymptomatic women undergoing genetic amniocentesis in this cohort, procalcitonin levels were low to undetectable and did not correlate with risk of subsequent preterm birth.

OBJECTIVE The aim of this study was to investigate the relationship between fetal Doppler parameters and bleeding at insertion points during amniocentesis. MATERIAL AND METHODS This prospective study was conducted between July 2010 and February 2011. A total of 215 amniocentesis procedures were performed during this period. Five patients with Down syndrome were excluded from the study. The remaining 210 patients were divided into Group 1 (bleeding at insertion site) and Group 2 as a control group. One needle type was used for all patients. Umbilical artery resistance index (UARI), umbilical artery pulsatility index (UAPI), middle cerebral artery resistance index (MCARI), middle cerebral artery pulsatility index (MCA PI), and middle cerebral artery peak systolic velocity (MCAPSV) were measured immediately and before and after amniocentesis. RESULTS Bleeding at the insertion point during amniocentesis did not significantly change the UARI (34% increase for Group 1 and 46.5% increase for Group 2, p=0.238), the MCARI (52% increase for Group 1 and 45% increase for Group 2, p=0.622), or the MCAPSV (37% increase for Group 1 and 49% increase for Group 2, p=0.199). UARI, MCARI, MCA PI, and MCAPSV were not significantly altered following amniocentesis in Groups 1 and 2. There was a significant increase in UAPI following amniocentesis only in Group 2. CONCLUSION Bleeding during genetic amniocentesis did not change umbilical artery and middle cerebral artery Doppler parameters.

The aim of this study was to examine if isolated fetal ventricular septal defect (VSD) is associated with trisomy 21. One hundred twenty six cases with prenatal VSD diagnosed by a pediatric cardiologist were reviewed. Cases with known risk factors for congenital heart disease, the presence of other major anomalies, soft signs for trisomy 21 or a positive screen test for trisomy 21 were excluded. Ninety two cases formed the study group. None of the cases in the study group had trisomy 21. The upper limit of prevalence for trisomy 21 in isolated VSD is 3%. When prenatal VSD is not associated with other major anomalies, soft markers for trisomy 21 or a positive nuchal translucency or biochemical screen, a decision whether to perform genetic amniocentesis should be individualized. The currently unknown association between isolated VSD and microdeletions and microduplications should be considered when discussing this option.

Aim: To verify the eventual efficacy of lactoferrin (LF), an iron-binding glycoprotein, to decrease the amniotic concentration of interleukin-6 (IL-6). Methods: We prospectively enrolled 60 Caucasian patients at the 16th week of their singleton physiological gestation. A vaginal compound containing 300 mg of LF was administered randomly 4 or 12 h prior to amniocentesis, as to obtain 3 groups: A, 20 untreated patients; B, 20 treated 4 h before amniocentesis; C, 20 treated 12 h before amniocentesis. Results: A normal karyotype was registered in all cases. The comparison of the distribution of IL-6 among the 3 groups showed a highly significant difference (p = 0.001). The difference between mean values of group B and both groups C and A was shown to be highly significant (p = 0.006 and p = 0.03, respectively). In contrast, there was no significant difference between mean values of groups A and C. Conclusion: Vaginal LF administration decreases amniotic IL-6 concentration. We therefore suggest that the glycoprotein may exert a protective role against ominous pregnancy complications linked to an increased level of the cytokine, such as abortion secondary to amniocentesis.

La identificación de anomalías cromosómicas fetales es una de las principales tareas a las que debe enfrentarse cualquier obstetra involucrado en el diagnóstico de anomalías congénitas. Se analizaron características clínicas y citogenéticas en gestantes sometidas a amniocentesis. Estudio observacional, descriptivo y retrospectivo, incluyó casos consecutivos en un centro privado de julio de 2010 a enero de 2015. Las muestras fueron procesadas en CGC Genetic (Porto-Portugal). Para el análisis estadístico se utilizó PEPI 4.0X. Se realizaron 67 estudios, en el 98,5% se pudo obtener el cariotipo y de éstos resultaron 74,2% normales y 25,8% anormales: 35,4% Trisomía 21, 17,6% Trisomía 18, Trisomía 13 y Sx Turner respectivamente, entre las principales. Indicaciones: 6,0% edad materna, 14,9% edad materna + alteración ecográfica, 77,6% alteración ecográfica (45,2 malformaciones congénitas mayores, 20,1% translucencia nucal aumentada, 17,7% higroma quístico entre otras). La edad gestacional promedio de la punción fue 19 semanas, la menor a las 15 y la mayor a las 30. El resultado del cariotipo se recibió 12 días posteriores a la técnica en promedio, mínimo 8 días y máximo 29. No se presentaron complicaciones obstétricas. El seguimiento de los casos encontró concordancia entre el cariotipo y el fenotipo del recién nacido. Si bien es un número bajo de muestras, la amniocentesis es un método diagnóstico confiable y de bajo riesgo. El diagnóstico prenatal de cromosomopatías permitió el asesoramiento genético y el manejo obstétrico y pediátrico de los casos de manera adecuada. En los embarazos con cariotipo normal, este resultado alivió la preocupación de muchos padres. Identification of fetal chromosomal abnormalities is one of the main issues which need to be addressed by any obstetrician involved in diagnosis of congenital anomalies. Clinical and cytogenetic characteristics were analyzed in pregnant women subjected to amniocentesis. This was an observational descriptive retrospective study that included consecutive cases in a private center from July, 2010 to January, 2015. The samples were processed in CGC Genetic (Porto - Portugal). For the statistical analysis, PEPI 4.0X. was used. Sixty seven studies were conducted, in 98.5% karyotype was obtained , 74.2% was normal and 25.8% abnormal: 35.4% Trisomy 21, and 17.6% Trisomy 18, Trisomy 13 and Sx Turner respectively. Among the the main indications: 6.0% maternal age, 14.9% maternal age plus ultrasound alteration, 77.6% ultrasound alteration (45.2% major congenital malformations, 20.1 increased nuchal translucency , 17.7% cystic hygroma among others). The mean gestational age of the puncture was 19 weeks, the lowest 15 and the highest 30. The result of the karyotype was received 12 days after the technique, the minimum 8 days and the maximum 29. There were no obstetric complications. The follow-up of cases found concordance between the karyotype and the phenotype of the newborn. Although this was a low number of samples, the amniocentesis was reliable diagnostic method with low risk. The prenatal diagnosis of chromosomopathies allowed the genetic counseling and appropiate obstetric and pediatric management cases. In pregnancies with normal karyotype, this result alleviated the concern of many parents.

Introducción: El diagnóstico prenatal temprano de anomalías cromosómicas requiere de técnicas invasivas, como la biopsia de vellosidades coriales (BVC) y la amniocentesis (AMC), con el fin de obtener células fetales, cultivarlas y obtener el cariotipo en los fetos con riesgo alto para estas anomalías, identificadas mediante marcadores ecográficos y bioquímicos desde las 11 semanas. Reportamos nuestra experiencia hasta junio del año 2016. Diseño: Estudio descriptivo longitudinal. Institución: Instituto Latinoamericano de Salud Reproductiva (ILSAR), Lima, Perú. Participantes: Fetos de primer y segundo trimestres del embarazo. Intervenciones: Se analizó los resultados del estudio de 400 fetos que cursaban el primer y segundo trimestre y que tenían riesgo alto para anomalías cromosómicas (mayor de 1/270 inicialmente y 1/100 desde el año 2012), resultado cuantificado utilizando la base de datos del Fetal Test de España más el resultado de los marcadores bioquímicos (riesgo combinado). El análisis del cariotipo fetal se realizó en muestras obtenidas por medio de 338 amniocentesis genéticas y 62 biopsias de vellosidades coriales realizadas durante el período comprendido de enero 2003 a junio 2016 en nuestro centro ILSAR. Principales medidas de resultados: Presencia de arcadores ecográficos y normalidad de los cariotipos. Resultados: Los marcadores ecográficos encontrados con mayor frecuencia fueron: higroma quístico (35,8%), translucencia nucal aumentada (13%), ductus venoso con onda de velocidad de flujo anormal (8,5%), dos o más marcadores asociados a anomalías fetales (13,7%). De 400 muestras estudiadas, 141 (35%) fueron cariotipos anormales: 64 (45%) T21, 35 (25%) T18, 21 (15%) 45X, 7 (5%) T13, 14 (10%) otras anomalías. No hubo complicación importante alguna atribuida al procedimiento invasivo. Conclusiones: En los fetos con riesgo alto para anomalías cromosómicas estudiados, el 35% tuvo cariotipo anormal, siendo las más frecuentes las trisomías de los cromosomas 21 y 18, seguidas de la monosomía del cromosoma X. El higroma quístico, la translucencia nucal aumentada y la presencia de 2 o más marcadores asociados a anomalías fetales fueron los hallazgos más frecuentes en la determinación del riesgo ecográfico. El higroma quístico mostró el mayor valor predictivo para anomalías cromosómicas. Introduction: Early prenatal diagnosis of chromosomal abnormalities requires invasive techniques, including chorionic villous sampling (CVS) and amniocentesis (AMC) in order to acquire, culture and kayotype cells from fetuses at high risk for these abnormalities based on sonographic and biochemical markers present after week 11. We report our experience through June 2016.Design: Descriptive, longitudinal study. Setting: Instituto Latinoamericano de Salud Reproductiva (ILSAR), Lima, Peru. Participants: First and second trimester of pregnancy fetuses. Interventions: Results of the study of 400 first and second trimester fetuses at high risk for chromosomal abnormalities (greater than 1/270 initially or 1/100 starting in 2012) based on Spain Fetal Test database and the results of biochemical markers (combined risk). Fetal karyotype analysis was performed on samples obtained from 338 genetic AMC and 62 CVS from January 2003 to June 2016. Main outcomes measures: Presence of ultrasound markers and normality of karyotypes. Results: The sonographic markers of complications identified most frequently were the following: cystic hygroma (35.8%), increased nuchal translucency (13%), abnormal ductus venosus waveforms (8.5%), two or more markers associated with fetal anomalies (13.7%). Out of the 400 samples studied, 141 (35%) had abnormal karyotypes: 64 (45%) trisomy 21, 35 (25%) trisomy 18, 21 (15%) monosomy X, 7 (5%) trisomy 13, and 14 (10%) other abnormalities. No major complications were attributed to the invasive procedure. Conclusions: Among these fetuses at high risk for chromosomal abnormalities, 35% had an abnormal karyotype. The most frequent chromosomal abnormalities were trisomies 21 and 18, followed by monosomy X. Cystic hygroma, increased nuchal translucency, and the presence of 2 or more markers associated with fetal anomalies were the most common findings in determining the sonographic risk of abnormalities. Cystic hygroma showed the highest predictive value for chromosomal abnormalities.

BACKGROUND: Few data exist describing laboratory related failure rates in prenatal diagnosis. The aim of this study is to assess the laboratory associated failure rate for karyotype, QF-PCR and CGH-array following amniocentesis in relation to gestation. METHODS: Retrospective database study of amniocenteses performed 2004-2014 comparing laboratory failure rate for karyotype, QF-PCR and CGH-array between 16 + 0 and 40 + 0 weeks' gestation. RESULTS: A total of 10 484 amniotic fluid test results were collected in three databases. Karyotype failed in 41/1797 (2.3%) tests; failure rate was significantly greater with advancing gestation reaching 43% at 36-40 weeks. QF-PCR failed in 132/5715 tests (2.3%) and was significantly greater with advancing gestation reaching 7% at 36-40 weeks. For CGH-array, 10/298 tests (3.4%) failed analysis. In one case, no result was obtainable by any technique. CONCLUSIONS: These data provide gestation specific laboratory failure rates for amniocentesis enabling informed decisions about the timing and laboratory technique most applicable to the clinical situation. Before 20 weeks, karyotype is least likely to fail of the three techniques. However, in the late third trimester, QF-PCR and, in particular, karyotyping are more likely to fail than CGH-array. Although there is some overlap between the three different tests, they may be preferentially offered in different clinical scenarios. © 2016 John Wiley & Sons, Ltd.

RESUMEN Antecedentes: Las aneuploidias y malformaciones congenitas son causa importante de morbi-mortalidad perinatal e infantil en Chile. Objetivo: Evaluar la realidad local del diagnostico genetico antenatal para mejorar el resultado perinatal. Metodos: Estudio retrospectivo y descriptivo. Se realizo amniocentesis a embarazadas con indicacion de estudio genetico prenatal por sospecha ecografica de alteraciones cromosomicas, entre octubre de 2010 y marzo de 2015, en el Hospital Sotero del Rio. Resultados: Los hallazgos ecograficos mas frecuentes fueron: cardiopatias congenitas, malformaciones del sistema nervioso central y restriccion de crecimiento fetal precoz. 164 pacientes aceptaron el estudio invasivo antenatal, obteniendose resultados de 154. El promedio de edad materna y edad gestacional del examen fueron 30 anos y 27+3 semanas, respectivamente. En embarazos con trisomia 21 y 13, el 71% de las pacientes tenia sobre 35 anos. Un 31% de las muestras presentaron cariotipo anormal, siendo la mas frecuente la trisomia 21 (14%), trisomia 18 (9%), monosomia X (4,5%) y trisomia 13 (2,6%). Conclusion: El diagnostico genetico prenatal permite un adecuado manejo perinatal, coordinacion apropiada entre las unidades de Obstetricia y Neonatologia, y la preparacion de las pacientes y sus familias para un pronostico perinatal adverso. PALABRAS CLAVES: Diagnostico genetico prenatal, aneuploidia, amniocentesis genetica, trisomias SUMMARY Background: Malformations and aneuploidy are a major cause of perinatal morbidity and mortality in Chile. Invasive techniques are offered to determine the fetal karyotype, when there is an abnormal finding in the ultrasound. Aims: To assess the local situation of prenatal genetic diagnosis to improve the management of this population. Methods: This is a retrospective and descriptive study of patients from october 2010 to march 2015, who had an amniocentesis for genetic testing due suspected fetal malformations or aneuploidy. Results: The sonographic findings most frequently found were: congenital heart disease, malformations of the central nervous system and early growth restrictions. 164 patients agree to perform invasive prenatal genetic, obtaining 154 results. The average maternal age was 30 years and the mean gestational age at amniocentesis was 27+3 weeks. In trisomy 21 pregnancies, 71% of patients were higher than 35 years. 31% of the samples had abnormal karyotype: trisomy 21 (14%), trisomy 18 (9%), Turner’s syndrome (4.5%) and trisomy 13 (3%). Conclusions: Prenatal genetic diagnosis allows appropriate perinatal management and contributes to prepare the patient and their families for an adverse perinatal outcome.

Objective To review the available evidence regarding pregnancy loss following first-trimester chorionic villus sampling (CVS) and mid-trimester genetic amniocentesis in twins. Methods We searched the MEDLINE database from January 1990 to May 2011 for randomized and cohort studies reporting on the risk of pregnancy loss after first-trimester CVS performed between 9 and 14 weeks and after genetic amniocentesis performed between 14 and 22 weeks. Where appropriate, we calculated pooled proportions and relative risks with 95% CI. Results No randomized studies were found. For CVS, nine studies fulfilled the inclusion criteria. The overall pregnancy-loss rate was 3.84% (95% CI, 2.48–5.47; n = 4). The rate of pregnancy loss before 20 weeks was 2.75% (95% CI, 1.28–4.75; n = 3) and before 28 weeks was 3.44% (95% CI, 1.67–5.81; n = 3). For amniocentesis, the overall pregnancy-loss rate was 3.07% (95% CI, 1.83–4.61; n = 4). The rate of pregnancy loss before 20 weeks was 2.25% (95% CI, 1.23–3.57; n = 2), before 24 weeks was 2.54% (95% CI, 1.43–3.96; n = 9) and before 28 weeks was 1.70% (95% CI, 0.37–3.97; n = 5). Pooled data from four case–control studies showed a higher risk (2.59% vs. 1.53%) of pregnancy loss before 24 weeks following amniocentesis (relative risk = 1.81; 95% CI, 1.02–3.19). There were no statistically significant differences in reported pregnancy loss between transabdominal and transcervical approaches, use of a single-needle system vs. a double-needle system and single uterine entry vs. double uterine entry in the CVS group. Similarly, in the amniocentesis group, there was no statistically significant difference in fetal loss between the single uterine entry vs. the double uterine entry. Conclusion In the absence of randomized studies, it is not possible to estimate accurately the excess risk following invasive procedures in twins. Currently available data show similar overall pregnancy-loss rates for both amniocentesis and CVS with the excess risk of around 1% above the background risk. Copyright © 2012 ISUOG. Published by John Wiley & Sons, Ltd.

OBJECTIVE: With the increased use of invasive fetal procedures, the number of patients facing postprocedure membrane rupture is increasing. We aimed to describe the use of platelets and fresh frozen plasma for sealing iatrogenic fetal membrane defects. PATIENTS AND METHODS: We describe the mechanisms of action of the amniopatch procedure as well as published experience. RESULTS: Amniopatch effectively sealed the fetal membranes in over two thirds of published cases (n=44). There is a risk of 17% of in utero fetal death, which may occur remotely from the procedure and is often unexplained. DISCUSSION AND CONCLUSION: In case of early onset but persistent amniotic fluid leakage following an invasive fetal procedure, amniopatch may be offered.

Importance Cell-free DNA (cfDNA) tests are increasingly being offered to women in the first trimester of pregnancies at a high risk of trisomy 21 to decrease the number of required invasive fetal karyotyping procedures and their associated miscarriages. The effect of this strategy has not been evaluated. Objective To compare the rates of miscarriage following invasive procedures only in the case of positive cfDNA test results vs immediate invasive testing procedures (amniocentesis or chorionic villus sampling) in women with pregnancies at high risk of trisomy 21 as identified by first-trimester combined screening. Design, setting, and participants Randomized clinical trial conducted from April 8, 2014, to April 7, 2016, in 57 centers in France among 2111 women with pregnancies with a risk of trisomy 21 between 1 in 5 and 1 in 250 following combined first-trimester screening. Interventions Patients were randomized to receive either cfDNA testing followed by invasive testing procedures only when cfDNA tests results were positive (n = 1034) or to receive immediate invasive testing procedures (n = 1017). The cfDNA testing was performed using an in-house validated method based on next-generation sequencing. Main outcomes and measures The primary outcome was number of miscarriages before 24 weeks' gestation. Secondary outcomes included cfDNA testing detection rate for trisomy 21. The primary outcome underwent 1-sided testing; secondary outcomes underwent 2-sided testing. Results Among 2051 women who were randomized and analyzed (mean age, 36.3 [SD, 5.0] years), 1997 (97.4%) completed the trial. The miscarriage rate was not significantly different between groups at 8 (0.8%) vs 8 (0.8%), for a risk difference of -0.03% (1-sided 95% CI, -0.68% to ∞; P = .47). The cfDNA detection rate for trisomy 21 was 100% (95% CI, 87.2%-100%). Conclusions and relevance Among women with pregnancies at high risk of trisomy 21, offering cfDNA screening, followed by invasive testing if cfDNA test results were positive, compared with invasive testing procedures alone, did not result in a significant reduction in miscarriage before 24 weeks. The study may have been underpowered to detect clinically important differences in miscarriage rates. Trial registration ClinicalTrials.gov Identifier: NCT02127515.

Prenatal diagnosis of genetic disease in Japan today, as of the end of 1978, and results of a follow-up study of infants born after genetic amniocentesis are reported. Of the 585 amniocentesis in 523 women, 568 cases contributed data for the results of their analysis. A previous history of pregnancy with Down's syndrome was a major indication in these 585 cases (59.5%); other indications included advanced maternal age 69 cases (11.8%), and metabolic disorder 56 cases (9.6%). Fetal loss occurred in a total 12 out of 542 cases (2.2%). Ten of these fetal losses occurred during the mid-trimester. No increase in perinatal mortality, perinatal morbidity or retardation of physical and mental development as a consequence of amniocentesis was observed. Erroneous diagnosis was attested in 7 out of 568 cases (1.2%). Test accuracy was thus demonstrated at 98.8%.

To investigate the mothers' anxiety levels and determine its effect on fetomaternal circulation in pregnant women undergoing genetic amniocentesis.A prospective case-control study was conducted regarding the assessment of maternal anxiety levels by means of the Spielberger State-Trait Anxiety Inventory in 60 pregnant women having genetic amniocentesis and 60 control cases having their early second trimester ultrasonographic screening, 30 minutes before and immediately after the procedure. Additionally, maternal-fetal hemodynamic changes and Doppler ultrasonographic measurements of fetoplacental circulation were recorded in both groups.The maternal anxiety state scores were found to be significantly higher in the amniocentesis group (p0.001). Maternal heart rate was significantly higher in the amniocentesis group (p0.05), while the fetal heart rate was significantly lower (p0.05) compared to the control group. Uterine artery Doppler measurements were comparable in the two groups but umbilical artery resistance index (p0.05) and S/D ratio (p0.05) were significantly higher in the amniocentesis group. Regression analysis revealed that the time which elapsed from offering amniocentesis until it was performed is the main predictor of fetal umbilical artery S/D ratio measured prior to amniocentesis in the amniocentesis group (β=0.66, p0.001) and maternal anxiety state scores (β=0.04, p=0.003) are the main predictors of fetal umbilical artery S/D ratio measured prior to amniocentesis or ultrasonography in the two groups. The education of the patient in years decreased (β=-0.13, p=0.04), while the amniocentesis procedure (β=1.44, p=0.02) and the time which elapsed in days from offering amniocentesis or ultrasonography up to its performance (β=0.41, p=0.04) increased the S/D ratio measured after the procedures.Our study provides the evidence that maternal anxiety and its duration has effects on the fetal blood flow. Early booking and patient support may help to overcome undesired consequences of an invasive prenatal procedure.Amniyosentez öncesi maternal anksiyete düzeylerinin araştırılması ve genetik amniosentez uygulanacak gebelerde fetomaternal dolaşım üzerine etkilerinin değerlendirilmesi.Genetik amniosentez uygulanan 60 gebe kadın ve erken ikinci trimester ultrasonografik incelemesi yapılan 60 kontrol vakasına, işlemden 30 dakika önce ve hemen sonrasında maternal anksiyete seviyesinin Spielberger Durumluk ve Sürekli Anksiyete Ölçeği ile değerlendirildiği prospektif bir vaka control çalışması uygulandı. Ek olarak, maternal-fetal hemodinamik değişiklikler ve fetoplasental dolaşımın Doppler ultrasonografik ölçümleri her iki grupta kayıt edildi.Maternal durumluk anksiyete skoru amniosentez grubunda belirgin olarak daha yüksek saptandı (p0.001). Maternal kalp hızı amniosentez grubunda belirgin olarak daha yüksek (p0.05) ve kontrol grubu ile karşılaştırıldığında fetal kalp hızı belirgin olarak daha düşük (p0.05) olarak saptandı. Uterin arter Doppler ölçümleri her iki grup arasında benzer iken, umblikal arter rezistans indeks (p0.05) ve S/D oranı (p0.05) amniosentez grubunda belirgin olarak yüksek ölçüldü. Regresyon analizinde amniosentez önerilmesinden uygulanmasına kadar geçen sürenin amniosentez öncesi ölçülen fetal umblikal arter S/D oranının öngörülmesinde amniosentez grubu için esas belirteç olduğu (β=0.66, p0.001) ve maternal durumluk anksiyete skorlarının (β=0.04, p=0.003) amniosentez ya da ultrasonografi öncesi ölçülen fetal umblikal arter S/D oranının öngörülmesinde her iki grup için esas belirteçler olduğu sonucuna varılmıştır. Yıl olarak hasta eğitim süresi işlem sonrası ölçülen S/D oranlarını azaltırken (β=−0.13, p=0.04), amniosentez işlemi (β=1.44, p=0.02) ve amniosentez ya da ultrasonografi önerilmesinden uygulanmasına kadar geçen süre (β=0.41, p=0.04) bu oranı arttırmaktadır.Çalışmamızda, maternal anksiyete ve süresinin fetal kan akımı üzerine etkileri olduğu sonucuna varılmıştır. Erken döneme randevu verilmesi ve hastalara yeterli destek sağlanması bu tipte invaziv prenatal bir işlemin istenmeyen sonuçlarının engellenmesine yardımcı olacaktır.

The results of a chromosomal test by genetic amniocentesis in 58 cases with an increased nuchal translucency (NT; ?3 mm thickness) revealed 47 cases showing a normal karyotype (81%) and 11 cases (19%) showing an abnormal karyotype. However, the cases of a normal karyotype with increased NT also included those with fetal abnormalities. Among the 49 cases in which NT was observed during the 1st trimester and then subsequently disappeared, chromosomal abnormalities were observed in 5 cases, and fetal abnormalities other than chromosomal abnormalities were observed in 2 cases. Meanwhile, all 9 cases in which an increased NT remained or in which NT continued to increase in size during the 2nd trimester were diagnosed to have cystic hygroma, and chromosomal abnormalities were found in 6 cases (67%). It should be noted that the shape of increased NT includes NT with a notch (Notched NT) and NT without a notch (Smoothed NT). Among the 20 cases of Notched NT, chromosomal abnormalities were observed in 8 cases (40%), and cystic hygroma was observed in 9 cases (45%). On the other hand, among the 38 cases of Smoothed NT, chromosomal abnormalities were observed in 3 cases (7.9%), but no cystic hygroma was observed. Our results clarified that increased NT does not always indicate a fetal abnormality. Whether the thickness of NT should be measured as screening of fetal abnormalities remains controversial. However, an increased NT may be detected by chance, because a maternal-fetal medical examination using ultrasonography is usually performed in Japan. It is therefore considered to be extremely important to establish a system in which cases are referred to obstetricians who are licensed clinical genetic specialists in order to obtain appropriate genetic counseling whenever an increased NT is clinically observed., Journal of Human Genetics, 53(8), pp.688-693; 2008

With the increased use of routine ultrasonography at the time of genetic amniocentesis, twins are increasingly likely to be discovered at the time when the procedure is to be carried out. In the presence of twins the likelihood of finding an abnormality may be significantly increased, but at the same time problems such as discordance between the twins for the abnormality, or the inability to test both twins may occur. This altered situation may affect the parents' decision as to whether or not to undertake amniocentesis, and the need for additional counseling prior to proceeding with the amniocentesis is stressed.

Resume Objectif Determiner le taux de perte post-intervention associee a l'amniocentese genetique menee au deuxieme trimestre. Issue Reduction des taux de biopsie benigne. Avantages Offrir de meilleurs conseils aux femmes au sujet des risques et des avantages de l'amniocentese genetique menee au deuxieme trimestre, et s'assurer que les femmes beneficient de renseignements / de services de counseling suffisants pour prendre une decision quant au depistage. Declaration sommaire Chaque patiente compte un risque de subir une perte post-intervention qui lui est propre et qui depend de multiples variables.

To determine whether pain associated with second trimester genetic amniocentesis is decreased by using subfreezing rather than room temperature needles.Subjects were randomized to a -14 degrees C or room temperature (20-22 degrees 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.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).A subfreezing 22-gauge spinal needle does not decrease perceived pain associated with second trimester genetic amniocentesis.

Objective To assess the performance of the UltraGuide 1000™ system, and to compare ultrasound-guided freehand mid-trimester amniocentesis with and without the new guidance system. Methods One hundred and sixty-nine women referred for mid-trimester genetic amniocentesis were divided into two groups: a control group of 99 women who underwent the procedure by the freehand technique with scored needles and 70 patients who had the procedure carried out with the aid of a guidance system (UltraGuide 1000) with non-scored needles. The procedures were compared for duration, number of punctures and repositionings of the needle, the visibility of the needle during the puncture and the number of bloody taps. Results The study group had significantly lower rates of reinsertion (none vs. 7.1%), repositioning (7.1% vs. 17.7%), bloody taps (none vs. 6.1%), touching the fetus (5.7% vs. 22.2%) and prolonged duration of the procedure (4.3% vs. 14.4%) compared with the control group. There was one fetal loss in the control group. Non-visibility of the needle before reaching the amniotic sac occurred in 18.6% of cases in the study group and in 38.4% of cases in the control group. Conclusions The new guidance system combines the benefits of an attached guide with the flexibility of the ‘freehand’ technique. Use of the new guidance system for mid-trimester genetic amniocentesis increases needle visibility and lowers the incidence of common complications. Copyright © 2002 ISUOG

We sought to assess changes in indications, technique, successful fluid aspiration, and pregnancy outcomes in a large cohort of genetic amniocenteses performed by a single physician.Records were reviewed regarding 4600 women who underwent genetic amniocentesis by a single physician between 1972 and 2000. Changes in indications, procedural technique, ease of performance, amniotic fluid reports, and pregnancy loss rates were tabulated and compared over time.The indications for amniocentesis changed significantly (P.0001) over time with the increasing use of maternal serum screening studies and fetal assessment by ultrasonography. The ease with which clear amniotic fluid was aspirated increased with experience, improvements in ultrasound technology, and modifications of amniocentesis technique. Procedure-related total pregnancy loss rate was 0.95%, and loss rate within 60 days of the procedure was 0.55%. Increasing operator experience did not improve the pregnancy loss rate significantly.Successful aspiration of clear amniotic fluid increases with amniocentesis experience. Pregnancy outcome did not change significantly with increasing amniocentesis experience.

羊水検査は,出生前に胎児の健康状態を診断することを目的とする出生前診断の一つである.本稿では,羊水検査をめぐる意思決定に関連する要因について国内外の33文献を検討し,意思決定を支えるケアを発展させるうえでの課題を探索した.その結果,次のことが明らかになった.1)意思決定に関連する要因は,身体的,心理的,社会的側面から分類することができ,各々には次のカテゴリーが含まれた:身体的要因は高齢妊娠・染色体異常児の出産既往・その他の検査所見;心理的要因は不安・障害に対する不幸感;社会的要因の中の人的要因は夫や家族・医療者.2)羊水検査をめぐる妊婦の意思決定を支えるケアを発展させるうえでの課題として,次の3点を確認することができた.(1)当該妊婦が,妊娠している可能性のある染色体異常児の種類やその確率,所見などから予測できる具体的な障害の程度を把握したうえで,妊婦や家族が,染色体異常以外の先天異常や,障害というもの全般と混同しないような説明を行う必要があると考えられた.(2)妊婦や家族が,染色体異常を正しく理解したうえで,妊娠中の当該胎児に対して抱く不安や不幸感,羊水検査をめぐって家族間で生じる意見の衝突や葛藤を受けとめ,妊婦や家族の間に衝突が予測される場合には,調整を行う必要があると考えられた.(3) 医療者は,医療者自身の価値観だけにとらわれず,中立的で非指示的な態度をもって,妊婦や家族に対して情報提供を行うとともに,妊婦や家族の意思を尊重した援助を行う必要があると考えられた.