Attitude changes toward prenatal testing among women with twin pregnancies after the introduction of noninvasive prenatal testing: A single-center study in Japan.

AIM: This study aimed to evaluate changes in prenatal testing among women with twin pregnancies before and after the introduction of noninvasive prenatal testing (NIPT). To date, no consensus on prenatal testing for twin pregnancies has been reached in Japan. METHODS: Women pregnant with twins who requested prenatal testing at Kyushu Medical Center from 2005 to 2018 were included in this study. Genetic counseling was provided to all participants. Their chosen methods of testing were collected and classified as invasive diagnosis (ID), noninvasive screening (NIS), and no test requested (NR). Parity, chorionicity, and methods of conception were assessed as attributes. The study period was divided into three terms according to testing availability in our center. RESULTS: After NIPT was introduced in our center, the use of ID methods decreased and eventually disappeared while NIS came to the forefront. NR was also the preferred choice of women with twin pregnancies before the introduction of NIPT and decreased but did not disappear after introducing NIPT. Women with twin pregnancies who underwent assisted reproduction initially showed hesitation to undergo testing but showed a strong preference for NIS after the introduction of NIPT. Differences in choice according to parity, chorionicity, and methods of conception were found before the introduction of NIPT but disappeared after introducing NIPT. CONCLUSION: Increasing information about NIPT has apparently influenced the attitudes of women with twin pregnancies to prenatal testing in Japan. In particular, those who conceive through assisted reproductive technologies exhibited a strong preference for NIPT.

Trends of fetal chromosome analysis by amniocentesis before and after beginning of noninvasive prenatal testing: A single-center experience in Japan.

AIM: This study is to investigate the role of amniocentesis for prenatal diagnosis before and after the beginning of noninvasive prenatal testing (NIPT) in Japan. METHODS: We performed a retrospective analysis of genetic amniocentesis at mid-trimester (15-20 gestational weeks) for fetal karyotype analysis at Nagoya City University between April 2006 and March 2020. The indications, test results, and the detection rate of fetal abnormal karyotype were compared before (phase 1, P1) and after (phase 2, P2) beginning of NIPT at April 2013. RESULTS: A total of 2458 (P1: 1132, P2: 1326) amniocentesis were enrolled in this study. The most frequent indication was advanced maternal age in both phases (P1: 78.2% %, P2: 81.1%). In P2, 110 patients (8.3%) received amniocentesis after positive or nonreportable NIPT results. Other indications were fetal abnormal findings by ultrasounds (P1: 15.4%, P2: 17.7%), abnormal maternal serum screening results (P1: 8.0%, P2: 10%), previous child with fetal chromosome aberration (P1: 6.5%, P2: 3.5%), and translocation of either partner (P1:1.5%, P2: 2.1%). The detection rate for fetal chromosomal aberrations including all indications was significantly increased in P2 (15.9%, 95% CI 14.0-18.0) as compared to P1 (9.0%, 7.4-10.8). However, if the indication was only advanced maternal age, the positive detection rate kept low in both phases (P1: 5.2%, 3.7-7.1, P2: 4.2%, 2.9-5.9). CONCLUSION: Since the initiation of NIPT, the detection rate of fetal chromosomal abnormalities was higher in this study, suggesting that amniocentesis cannot be strongly recommended for advanced maternal age alone.

Clinically significant maternal X chromosomal copy number variation detected by noninvasive prenatal test.

Maternal copy number variation (CNV), especially at the X chromosome is an important cause of false positive noninvasive prenatal test (NIPT) results for sex chromosomal aneuploidy. In addition, some maternal CNV can cause significant anomalies if the male fetus was inherited the X chromosome with CNV. During 1000 high risk Korean NIPT, we incidentally detected two cases of maternal X chromosomal CNV which can cause abnormal phenotype in a male fetus. The first false-positive NIPT case (47, XXY) was due to a maternal 0.5 Mb duplication at Xq28, including the MECP2 gene. The second is a case of an 8-Mb deletion on maternal Xq24q25, including GRIA3 and XIAP genes.

Higroma quístico retronucal como marcador de anomalías cromosómicas en el primer trimestre de la gestación / Retronuchal cystic hygroma in the first trimester of pregnancy as a marker of chromosomal abnormalities

Background: Nuchal cystic hygroma is the most frequently identified marker of chromosomal anomalies during first trimester screening. Objective: To determine the association of the nuchal cystic hygroma with chromosomal anomalies diagnosed with karyotyping done between the first and second trimesters of pregnancy. Design: Retrospective study. Setting: Instituto Latinoamericano de Salud Reproductiva (ILSAR), Lima, Peru. Patients. Fetuses with nuchal cystic hygroma. Methods: The data were obtained from the ILSAR database between August 2007 and May 2018, the cases diagnosed by ultrasound from week 11 to 13.6. Nuchal cystic hygroma was defined as the presence of septated liquid content in the nuchal axial section with a thickness above the 95th percentile value for increased nuchal translucency value for the crown-rump length. The karyotype was obtained between the first and second trimesters from material collected by chorionic villus sampling (BVS) or amniocentesis (AMC). Main outcome measures: Karyotyping results were compared between cases with cystic hygroma alone and cases with cystic hygroma in addition to another marker. Results: Out of 459 invasive procedures performed in fetuses with high risk for chromosomal anomalies based on the Fetal test database of Spain, there were 162 cases of chromosomal anomalies (35.3%), and 104 cases of nuchal cystic hygroma (22.7%). Nuchal cystic hygroma was associated with a higher frequency of chromosomal abnormalities, compared to fetuses without cystic hygroma (52.9% vs. 30.1%; p<0.001). Out of 61 cases of hygroma alone, 42.3% had chromosomal anomalies, and when the hygroma was associated with other markers (fetal hydrops, abnormal ductus venosus, heart disease), 65.1% had chromosomal abnormalities. There was a statistically significant difference (p=0.003) for the presence of monosomy X between the group with cystic hygroma alone and the group with hygroma and fetal hydrops. There was no difference in hygroma thickness between the groups with and without chromosomal abnormalities. Conclusions: Nuchal cystic hygroma is a risk marker with high predictive value for chromosomal abnormalities, and its identification during prenatal screening may be considered an indication to a diagnostic test. When cystic hygroma is associated to flow abnormalities of the ductus venosus or fetal hydrops, chromosomal abnormalities significantly increase. The hygroma associated with hydrops was primarily linked to monosomy X, while the hygroma associated with abnormal flow velocity waveforms of the ductus venosus was linked to trisomy 21.

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<0,001). De 61 casos de higroma solo, 42,3% tenían anomalía cromosómica, y cuando el higroma estaba asociado a otros marcadores (hidrops fetal, ductus venoso anormal, cardiopatía, ausencia de hueso nasal), hubo 65,1% de anomalías cromosómicas. Hubo diferencia estadística significativa (p=0,003) para la presencia de monosomía X, entre el grupo con higroma solo y el de higroma + hidrops fetal. No hubo diferencia en el grosor del higroma entre el grupo con y sin anomalía cromosómica. Conclusiones. El higroma quístico retronucal es un marcador de riesgo con alto valor predictivo para anomalías cromosómicas. Su identificación en el tamizaje prenatal podría ser indicación para recomendar una prueba diagnóstica. Cuando se asocia a anormalidad del flujo del ductus venoso o hidrops fetal, aumentan significativamente las anomalías cromosómicas. El higroma asociado con hidrops se vinculó mayoritariamente a la monosomía X, mientras que el higroma asociado con onda de velocidad de flujo-OVF de ductus venoso anormal a la trisomía 21.

Análisis de los resultados de amniocentesis genética en un centro privado / Analysis of results of genetic amniocentesis in a private center

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 tobe addressed by any obstetrician involved in diagnosis of congenital anomalies. Clinical andcytogenetic characteristics were analyzed in pregnant women subjected to amniocentesis.This was an observational descriptive retrospective study that included consecutive cases ina private center from July, 2010 to January, 2015. The samples were processed in CGCGenetic (Porto - Portugal). For the statistical analysis, PEPI 4.0X. was used. Sixty sevenstudies 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 Turnerrespectively. Among the the main indications: 6.0% maternal age, 14.9% maternal ageplus 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 daysand 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 alow number of samples, the amniocentesis was reliable diagnostic method with low risk. Theprenatal diagnosis of chromosomopathies allowed the genetic counseling and appropiate obstetric and pediatric management cases. In pregnancies with normal karyotype, thisresult alleviated the concern of many parents.

Diagnóstico prenatal de anomalías cromosómicas: Biopsia de vellosidades coriales y amniocentesis para cariotipo fetal / Prenatal diagnosis of chromosomal abnormalities: Chorionic villous sampling and amniocentesis for fetal karyotyping

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.

Diagnóstico prenatal de anomalías cromosómicas: Chorionic villous sampling and amniocentesis for fetal karyotyping / Biopsia de vellosidades coriales y amniocentesis para cariotipo fetal / Prenatal diagnosis of chromosomal abnormalities

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.

Resultado de estudio prenatal invasivo para el diagnóstico de aneuploidía en el Hospital Sótero del Río / Results of an invasive prenatal study for the diagnosis of aneuploidy at Hospital Sótero del Río

ANTECEDENTES: Las aneuploidías y malformaciones congénitas son causa importante de morbi-mortalidad perinatal e infantil en Chile. OBJETIVO: Evaluar la realidad local del diagnóstico genético antenatal para mejorar el resultado perinatal. MÉTODOS: Estudio retrospectivo y descriptivo. Se realizó amniocentesis a embarazadas con indicación de estudio genético prenatal por sospecha ecográfica de alteraciones cromo-sómicas, entre octubre de 2010 y marzo de 2015, en el Hospital Sótero del Río. RESULTADOS: Los hallazgos ecográficos más frecuentes fueron: cardiopatías congénitas, malformaciones del sistema nervioso central y restricción de crecimiento fetal precoz. 164 pacientes aceptaron el estudio invasivo antenatal, obteniéndose resultados de 154. El promedio de edad materna y edad gestacional del examen fueron 30 años y 27+3 semanas, respectivamente. En embarazos con trisomía 21 y 13, el 71% de las pacientes tenía sobre 35 años. Un 31% de las muestras presentaron cariotipo anormal, siendo la más frecuente la trisomía 21 (14%), trisomía 18 (9%), monosomía X (4,5%) y trisomía 13 (2,6%). CONCLUSIÓN: El diagnóstico genético prenatal permite un adecuado manejo perinatal, coordinación apropiada entre las unidades de Obstetricia y Neonatología, y la preparación de las pacientes y sus familias para un pronóstico perinatal adverso.

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 aneu-ploidy. 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.

Neonatal leukemoid reaction associated with Candida albicans chorioamnionitis.

Chorioamnionitis due to Candida species is relatively rare, despite the high prevalence (20-25%) of Candida vulvovaginitis during pregnancy. We describe a case of neonatal leukemoid reaction (NLR) associated with Candida albicans chorioamnionitis. A male infant was born at 31 weeks' gestation and weighed 1864 g. Laboratory tests at birth indicated marked leukocytosis (i.e. total leukocyte count 89.8 × 10(9) /L including 66% polymorphonuclear leukocytes and 15% band forms). Samples of the infant's pharyngeal mucus and tracheal aspirate were positive for Candida albicans. On further histopathology of the placenta, C. albicans mycelia had invaded the placenta, chorioamniotic membrane, and umbilical cord. Although it is not very common, C. albicans chorioamnionitis should be considered in preterm infants with NLR.

Short-term outcomes after second-trimester genetic amniocentesis in Siriraj Hospital.

OBJECTIVE: To determine the short-term outcomes of second-trimester genetic amniocentesis at Siriraj Hospital, Bangkok, Thailand. METHODS: In a retrospective descriptive study, data were assessed from women with a singleton pregnancy who underwent genetic amniocentesis between 16 and 21 gestational weeks at the Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Siriraj Hospital, from May 2007 to June 2012. The amniocentesis records and medical data of all women were analyzed statistically. RESULTS: During the 5-year period, complete data were collected for 3307 pregnant women. The rate of total pregnancy loss within 4 weeks of testing was 7 out of 3307 (0.2%; 95% confidence interval, 0.1%-0.4%). Advanced maternal age (≥35 years) was the most common indication for amniocentesis (94.6%). The culture failure rate was 0.2%. Chromosomal abnormalities were detected in 109 pregnancies (3.3%); trisomy 21 was the most prevalent abnormality (0.8%). The possible risk factors of fetal loss were early amniocentesis (gestational age, <18 weeks) (P=0.013), abnormal fetal sonography (P=0.004), culture failure (P=0.015), and old-blood- or murky-stained amniotic fluid (P=0.036). CONCLUSION: Second-trimester genetic amniocentesis resulted in 0.2% of total pregnancy loss within 4 weeks of testing. This information is essential for patient counseling before amniocentesis.

Hallazgos ecográficos en fetos con alteraciones cromosómicas / Ecographic findings in fetus with cromosomal alterations

Describir los hallazgos ecográficos detectados en los fetos y su relación con el cariotipo anormal obtenido en las amniocentesis genéticas realizadas en el segundo trimestre. Se revisaron todos los informes de los estudios ecográficos realizados previamente a la amniocentesis de los fetos que resultaron con cromosomopatías durante el año 2006. Centro Nacional de Genética Humana y Experimental. Universidad Central de Venezuela. Caracas. En 1786 amniocentesis, se obtuvieron 32 fetos (1,79 por ciento) con cromosomopatías, siendo la trisomía 21 la más frecuente (47 por ciento). De todos los casos con alteraciones cromosómicas 15 fetos (46,9 por ciento) tuvieron uno o más marcadores ecográficos. Los hallazgos ecográficos encontrados en el grupo general fueron pliegue nucal engrosado en 40 por ciento, higroma quístico en 19,5 por ciento, ectasia pielocalicial en 12,5 por ciento, e intestino hiperecogénico, ausencia de hueso nasal, foco ecogénico intracardíaco y pie equino varo, cada uno en un 7 por ciento. Un 53 por ciento de los fetos con trisomía 21 presentaron algún tipo de hallazgo ecográfico anormal, así mismo un 67 por ciento de los fetos con trisomía 18 y 100 por ciento de los fetos que tenían monosomía X, trisomía 22 y triploidía. El ultrasonido juega un papel muy importante en el diagnóstico prenatal. El diagnóstico apropiado de las anomalías estructurales y hallazgos menores, incrementa la sospecha de alguna alteración cromosómica y puede sugerir la realización de procedimientos invasivos de diagnóstico prenatal

To describe the abnormalities detected by detailed second trimester ultrasonography among the fetuses with abnormal karyotype after amniocentesis. Ultrasound studies belonging to fetuses with diagnosed chromosomal anomalies in 2006 were reviewed. Centro Nacional de Genética Humana y Experimental. Universidad Central de Venezuela. Caracas. A total of 1,786 patients underwent amniocentesis with a result of 32 (1.79 percent) fetuses detected with an abnormal karyotype, trisomy 21 (47 percent). Out of all cases with chromosomal anormalies 15 fetuses (46.9 percent) had one or more sonographic markers. Ultrasound markers were: increased nucal fold 40 percent , cystic hygroma (19.5 percent) , pyelectasis 12.5 percent, and echogenic bowel, absent nasal bone, echogenic intracardiac foci and club foot (7 percent) each one. A 53 percent of fetuses with trisomy 21 had some adnormal sonographic marker, as well as 67 percent of trisomy 18 and 100 percent of fetuses with X0, trisomy 22 and triploidy. The second trimester ultrasound plays an important role in prenatal diagnosis. The appropriate detection of structural anomalies and sonographic markers increase the diagnosis of aneuploidies and can suggest the necessity to practice an invasive study

The effects of maternal anxiety prior to amniocentesis on uterine and fetal umbilical blood flow.

OBJECTIVE: To investigate the mothers' anxiety levels and determine its effect on fetomaternal circulation in pregnant women undergoing genetic amniocentesis. MATERIAL AND METHODS: 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. RESULTS: The maternal anxiety state scores were found to be significantly higher in the amniocentesis group (p<0.001). Maternal heart rate was significantly higher in the amniocentesis group (p<0.05), while the fetal heart rate was significantly lower (p<0.05) compared to the control group. Uterine artery Doppler measurements were comparable in the two groups but umbilical artery resistance index (p<0.05) and S/D ratio (p<0.05) 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 (ß=0.66, p<0.001) and maternal anxiety state scores (ß=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 (ß=-0.13, p=0.04), while the amniocentesis procedure (ß=1.44, p=0.02) and the time which elapsed in days from offering amniocentesis or ultrasonography up to its performance (ß=0.41, p=0.04) increased the S/D ratio measured after the procedures. CONCLUSION: 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.

Clinical and Cytogenetic study on 3,672 Genetic Amniocentesis: YUMC 20 years experience from 1985 to 2004 years / 대한산부인과학회지

OBJECTIVE: To systematic analyze the change of the annual distribution and indications, age distribution of the patients and chromosomal results according to patient's age and indications in midtrimester genetic amniocentesis METHODS: This study conducted between 1985 and 2004 collected 3,672 amniocenteses procedure which were done at College of Medicine, after prenatal genetic counceling for mothers who have high risk for carrying chromosomally abnormal babies. RESULTS: 1. The incidence of amniocentesis had been in gradual increase since the 1980''s, however, the number has increased sharply for the patiences in mid 1990's. 2. Of the 3,672 amniocentesis cases, 32.2% was maternal age 30 to 34 which was most common age group and followed by age 35 to 39 was 29.9% and age 25 to 29 was 27.8%. 3. The indications for amniocentesis were advanced maternal age (36.1%), abnormal maternal serum markers (31.7%) and abnormal ultrasonographic findings which implies chromosomal abnormality (9.6%). In the 1980's, amniocentesis had earlier been used primarily for those in advanced maternal age groups, at least 35 years older. Recently maternal serum markers and ultrasonography play an important role as an indicator for the amniocentesis. 4. From the 3,672 cases, 3,556 cases showed normal diploidy and 116 cases abnormal karyotype which consisted 3.16%. In autosomal disorders, 36 Down syndrome, 15 Edward syndrome, 2 Patau syndrome were diagnosed. In Sex chromosomal anomaly, 5 Turner syndrome, 6 47XYY, and 2 Klinefelter syndrome. Add to that 31 translocation including 21 Reciprocal translocation and 10 Robertsonian translocation, and 8 deletions and 4 mosaicisms were diagnosed. Of the 354 cases with abnormal ultrasonic findings, 19 (5.4%) resulted in chromosomal anomaly. Of the 1,164 casaes with positive maternal serum markers, 42 (3.6%) resulted in chromosomal anomaly. Those who had abnormal ultrasonographic findings implying chromosomal abnormality were found to have correlation with chromosomal abnomality than other indications. CONCLUSION: Midtrimester genetic amniocentesis is an important diagnostic tool in prenatal diagnosis, of which the annual incidence has been recently increased abruptly. Not only maternal age, but the maternal serum markers and ultrasonograms should be considered in prenatal counseling. Amniocentesis should be well informed to the general population.

Clinical Analysis of 739 Cases of Midtrimester Amniocentesis / 대한주산의학회잡지

OBJECTIVE: To analyze the change of indications and chromosomal abnormalities according to patient's age and indications in midtrimester genetic amniocentesis. METHODS: This study was reviewed 739 genetic amniocentesis results which were performed at Kwangju Christian Hospital from 1995 to 2004, as prenatal genetic diagnosis for the possibility of chromosomal abnormality of fetus. Age distribution, gestational weeks, indications of amniocentesis and cytogenetic results were the key factors for the analysis. RESULTS: Maternal ages were ranged from 25 to 45, mostly 25~39, Of indications of prenatal genetic amniocentesis, abnormal maternal serum marker was the most common (49.8%), and followed by advanced maternal age (31.1%). The frequency of abnormal karyotypes was 4.6% (34/739). The incidence of abnormal karyotype according to indication had statistical significance in abnormal ultrasonographic finding. CONCLUSION: Among the several indications for prenatal cytogenetic diagnosis, ultrasonographic abnormalities and abnormal maternal serum markers might be important indications. Especially, ultrasonographic abnormalities could be the predictive markers for abnormal fetal karyotypes.

A Review of Prenatal Cytogenetic Analysis in 2942 Midtrimester Amniocentesis / 대한산부인과학회잡지

OBJECTIVES: To analyze 2942 cases of prenatal genetic amniocentesis with their cytogenetic results. METHODS: This study reviewed 2942 genetic amniocentesis results which were perfomed at Ilsin Christian Hospital from 1993 to 1999, as prenatal genetic diagnosis for the possibility of chromosomal abnormality of fetus. Age distribution, gestational weeks, indications of amniocentesis and cytogenetic results were the key factors for the analysis. RESULTS: Maternal ages were ranged from 20 to 45, mostly 25-39. Of indications of prenatal genetic amniocentesis, abnormal maternal serum marker was the most common(57.9%) and followed by advanced maternal age(29.3%). The frequency of abnormal karyotypes was 3.1%(90/2942). Down syndrome(trisomy 21) and inversion of chromosome were found at 0.8%(24/2942) and 1.0%(30/2942). The incidence of abnormal karyotype according to indication had statistical significance in family history and abnormal ultrasonographic findings.(p<0.001) CONCLUSIONS: Midtrimester genetic amniocentesis is an important diagnostic tool in prenatal genetic diagnosis. In addition to the maternal serum markers and maternal ages, complete family history takings and ultrasonograms should be considered in prenatal genetic counseling.

Clinical Analysis of 1,068 Cases of Mid-trimester Genetic Amniocentesis / 대한산부인과학회잡지

OBJECTIVES: The objective of this study is to analyze 1,068 cases of prenatal genetic amniocentesis and to compare the results with reported studies. METHOD: We analyzed 1,068 cases of midtrimester prenatal genetic amniocenteses from September 1994 to February 1999, and investigated the fetal chromosomal abnormality, obstetric outcomes and complications by the indications of genetic amniocentesis and prophylactic antibiotic use at the Department of Obstetrics and Gynecology, Ajou University School of Medicine. RESULTS: Abnormal maternal serum markers were the most common indication of amniocentesis (57.7%) and the most common age distribution was 25-29 years (39.2%). One case of early amniocentesis (14 gestational weeks) was performed. The overall incidence of chromosomal aberration was 5.2% (56/1,068), of which there were 28 cases (50.0%; 28/56) of numerical aberrations and 28 cases (50.0%; 28/56) of structural aberrations. There were 50 cases (4.7%) of autosomal chromosomal aberrations and 6 cases (0.6%) of sex chromosomal aberrations. The pregnancy outcome was full-term delivery in 86.5%, preterm delivery in 7.6%, termination of pregnancy in 4.0%. There were no cases of serious complications including fetal death except for a case of self-limited amniotic fluid leakage(high leakage) in which the pregnancy was maintained. There were no significant differences between prophylactic antibiotics user group and non-user group in obstetric complications and outcomes. CONCLUSION: We could confirm that the trend in the indication of genetic amniocentesis had changed from advanced maternal age(35 year-old) toward abnormal maternal serum marker(triple test), and we recognized the importance of genetic amniocentesis according to the various antenatal screening tests of maternal serum marker, antenatal ultrasound, past history of fetal anomaly or family history of fetal chromosomal anomaly in the younger age groups(< 35 year-old) that are involved in more than half of the chromosomal anomaly. Further study will be needed to elucidate the efficacy of using prophylactic antibiotics in amniocentesis.

A Clinical Study of 1,064 Cases of Midtrimester Genetic Amnicentesis / 대한산부인과학회잡지

Midtrimester genetic amniocentesis has been a gold standard for prenatal diagnosis in antenatal care since last 25 years. After the triple serum marker test was introduced as a prenatal screening method for Down syndrome, the frequency of genetic amniocentesis was increased. OBJECTIVE: To determine the complication, risk of amniocentesis and detection rate of chromosomal abnormality. MATERIAL AND METHODS: A retrospective clinical analysis of 1,064 midtrimester genetic amnicentesis in IL Sin Christian Hospital antenatal clinic from Jan 1995 to Dec 1997. Chi square test was used for the statistical analysis and p value < 0.05 was considered significant. RESULTS: Amnicentesis were significantly increased in the age of 35-39 yrs and 40yrs over. And also the incidence of chromosomal abnormality was higher than younger age group. The indications of amnicentesis were screen positive of triple marker test(43%), advanced maternal age(20.8%), abnormal beta-hCG level, past history of chromosome abnormality or malformed baby and abnormal alpha-FP level in order. Total number of chromosomal abnormalities was 30 and the incidence of chromosomal abnormalities was 2.8%(30/1,064). The complications were developed in 13 cases and fetal loss rate was 0.78%(9/1,064). CONCLUSION: The detection rate of chromosomal abnormality in midtrimester amnicentesis for prenatal diagnosis was high and relatively safe procedure but, we should be attention to more careful manipulation.

Six-years' Experience of Pseudomosaicism and Maternal Cell Contamination in Cultured Amniocytes

PURPOSE : To present our experiences in pseudomosaicism or maternal celi contamination in genetic mid-trimester amniocentesis confirmed through percuraneous umbilical blood sampling. METHODS : From 1992 to 1997, repeated cytogenetic evaluation with fetal cord blood was carried out in 14 cases showing mosaic patterns. RESULTS : We confirmed pseudomosaicsm in 12 cases (85.7%) by repeated cytohenetic evaluation, and also maternal cell contamination in 2 cases. CONCLUSIONS : Repeated cytohenetic evaluation via percutaneous umbilical blood sampling was a rapid and useful method fof the confirmation of mosaicism resulted from genetic mid-trimester amnicentesis.

Analysis of 200 Cases of Midtrimesteric Amniocentesis / 대한산부인과학회잡지

OBJECTIVE: We analyzed 200 cases of prenatal amniocentesis and compared them with other reported studies. Thus we propose the necessity of metanalysis for prenatal amniocentesis. METHOD: We analyzed 200 cases that have undergone amniocentesis at Masan Samsung hospital from January 1996 to December 1997. The results of our study was compared with other reported studies of amniocentesis by indication and maternal age. The proportion of age-class and indication are compared between previous study subjects and our 200 cases. RESULTS: Triple marker abnormality was the most common indication of amniocentesis(51%) and the most common age distribution was 25-29 years (43.5%). Chromosomal aberration was diagnosed in 20 cases (10%) of which the numerical aberration was 9 cases (4.5%) and the structural aberration was 11 cases (5.5%). 5 cases (2.5%) out of ll cases of the structural aberration were normal variant. There were 7 cases (trisomy 21) of autosomal aberration and 2 cases (Turner syndrome) of sex chromosome aberration. Arnong the structural aberration, there was only one reported case of 46, t(7:10) reciprocal translocation. There were no cases of fetal death except for a little self limited preterm labor. There were no neonatal complications. In the comparison of indication and maternal age with other studies, abnormal triple test was the most common indication of amniocentesis. The number of young pregnant women under 35 years old who underwent genetic amniocentesis was increased year by year. CONCLUSION: Triple maker screening test and genetic amniocentesis become popular method of antenatal diagnosis in Korea. Now, it is the proper time to establish standard indication of prenatal amniocentesis in this country by systemic and objective statistic examination. So we address the need for metanalysis in our country as comparing with other studies.