Hemorragia materno-fetal posterior a amniocentesis y cordocentesis

Objetivo . Comparar la frecuencia y cantidad de hemorragia materno-fetal posterior a la amniocentesis y cordocentesis. Diseño . Estudio de casos y controles. Métodos . Gestantes con embarazos simples sin anomalías fetales sometidas a amniocentesis para determinación del cariotipo fetal (16 a 20 semanas de gestación) o cordocentesis (20 a 30 semanas de embarazo) en el periodo de enero de 2017 a mayo de 2022. Principales medidas de estudio. Características generales del procedimiento, resultados de la prueba de Kleihauer-Brown-Betke y concentraciones séricas de alfafetoproteína materna. Resultados . La muestra del estudio fue de 305 pacientes. La amniocentesis se realizó en 165 mujeres y la cordocentesis en 140 casos. La hemorragia materno-fetal de novo se observó en 8 pacientes (4,8%) después de la amniocentesis y en 41 pacientes (29,3%) después de la cordocentesis. Las concentraciones de alfafetoproteína sérica aumentaron en 24 casos (14,5%) después de la amniocentesis y en 55 casos (39,3%) después de la cordocentesis (p < 0,05). Luego de la cordocentesis se observó mayor volumen promedio de hemorragia maternofetal, elevación de valores individuales de volumen e incrementos significativos en la hemorragia materno-fetal severa (más de 5 mL de eritrocitos fetales) y de pérdida del volumen sanguíneo fetoplacentario total (p < 0,05). Conclusión . Estos resultados muestran que tanto la amniocentesis como la cordocentesis aumentan el riesgo de hemorragia materno-fetal. Sin embargo, la amniocentesis guiada por ecografía tiene menor riesgo de producir hemorragia y la isoinmunización Rh resultante, comparada con la cordocentesis.

Objective : To compare the frequency and amount of maternal-fetal hemorrhage following amniocentesis and cordocentesis. Design : Case-control study. Institución. Hospital Central "Dr. Urquinaona", Maracaibo, Venezuela. Methods : Pregnant women with singleton pregnancies without fetal anomalies undergoing amniocentesis for fetal karyotyping (16-20 weeks' gestation) or cordocentesis (20- 30 weeks' pregnancy) in the period January 2017-May 2022. Main study outcomes: General characteristics of the procedure, Kleihauer-Brown-Betke test results, and maternal serum alpha-fetoprotein concentrations. Results : The study sample was 305 patients. Amniocentesis was performed in 165 women and cordocentesis in 140 cases. De novo maternal-fetal hemorrhage was observed in 8 patients (4.8%) after amniocentesis and in 41 patients (29.3%) after cordocentesis, de novo maternalfetal hemorrhage was observed in 8 patients (4.8%). Serum alpha-fetoprotein concentrations increased in 24 cases (14.5%) after amniocentesis and in 55 cases (39.3%) after cordocentesis (p < 0.05). After cordocentesis, higher mean maternalfetal hemorrhage volume, elevation of individual volume values and significant increases in severe maternal-fetal hemorrhage (more than 5 mL of fetal erythrocytes) and total fetoplacental blood volume loss were observed (p < 0.05). Conclusion : These results show that both amniocentesis and cordocentesis increase the risk of maternal-fetal hemorrhage. However, ultrasound-guided amniocentesis has a lower risk of producing hemorrhage and resulting Rh isoimmunization compared to cordocentesis.

Prevención de enfermedad hemolítica perinatal severa con inmunoglobulina intravenosa en paciente altamente sensibilizada / Prevention of severe perinatal hemolytic disease with intravenous immunoglobulin in a highly sensitized patient

RESUMEN La enfermedad hemolítica perinatal es infrecuente hoy por la prevención que de ella se hace. Sin embargo, existen casos de madres altamente sensibilizadas que desean tener un hijo, lo que obliga a que ese embarazo deseado sea controlado de manera especial y sometido a procedimientos invasivos no exentos de morbimortalidad fetal. El uso prenatal de inmunoglobulina humana en la madre puede representar una alternativa terapéutica. Se presenta un caso en que su uso impidió el desarrollo de enfermedad intrauterina y favoreció la buena evolución neonatal a pesar de que el pronóstico inicial era muy adverso.

ABSTRACT Perinatal Hemolytic Disease is uncommon today due to its prevention. However, there are cases of highly sensitized mothers who wish to have a child, that forces this desired pregnancy to be controlled in a special way and be subjected to invasive procedures not exempt from fetal morbidity and mortality. Prenatal use of human inmunoglobulin in the mother may represent a therapeutic alternative. We present a case in which its use prevented the development of intrauterine disease and favored a good neonatal evolution despite the fact that the initial prognosis was very adverse.

Effects of peripheral and umbilical cord blood sampling on transfusion and complications in very low birth weight infants during hospitalization / 中华围产医学杂志

Objective:To analyze the effects of different blood sampling methods on the incidence of iatrogenic blood loss, anemia, transfusion, and complications in very low birth weight infants (VLBWI) during hospitalization.Method:A retrospective analysis was performed on VLBWIs (birth weight <1 500 g) admitted to the neonatal intensive care unit of the Second Hospital of Yangtze University, Jingzhou Central Hospital, Hubei province, from January 2014 to December 2018. According to the first blood sampling method, these infants were subjected to the umbilical cord blood and peripheral blood groups. Blood sampling, transfusion, complications, and outcomes were compared between the two groups. Independent samples t-test, rank-sum test, and Chi-square (or Fisher's exact) test were used for statistical analysis. Results:(1) Totally 240 neonates enrolled, including 104 cases in the umbilical cord blood group and 136 in the peripheral blood group. There was no statistical significance in the general information and blood test results for the first time between the two groups. (2)The blood volume collected in the first week in the umbilical cord blood group was lower than that in the peripheral blood group [6.5 ml (1-23 ml) and 10 ml (1-30 ml), Z=－4.706, P<0.01]. Differences between the two groups in the blood volume at 2-9 weeks were insignificant (all P>0.05). The number of blood collection procedures in each of the first four weeks after birth in the umbilical cord blood group was less than that in the peripheral blood group ( Z value was－9.124,－2.272,－4.688, and－2.017, respectively, all P<0.05), but no statistical difference was found at the fifth week ( P>0.05). The time of the first red blood cell transfusion (RBCT) in the umbilical cord blood group was later than that in the peripheral blood group [4 weeks (1-7 weeks) vs 3 weeks (1-5 weeks), Z=－2.839, P<0.05]. The proportion of infants who have received RBCT twice or more times in the umbilical cord blood group was lower than that in the peripheral blood group [39.7% (25/63) vs 56.8% (50/88), χ2=4.312, P<0.05]. The rate of RBCT during the first three weeks in the umbilical cord blood group was lower than that in the peripheral blood group [34.9% (22/63) vs 59.1% (52/88), χ2=8.583, P<0.05]. There were no significant differences in the volume of RBCT per time, adverse reactions after transfusion, and the erythrocyte count, hemoglobin, and hematocrit before and after the first RBCT between the two groups. (3) The incidence of neonatal respiratory distress syndrome, neonatal necrotizing enterocolitis, bronchopulmonary dysplasia, retinopathy of prematurity, and intraventricular hemorrhage (grade Ⅲ-Ⅳ) and their outcomes were similar between the two groups (all P>0.05). Conclusion:Blood sampling methods show no significant effect on the total incidence of anemia and RBCT in VLBWIs during hospitalization. Umbilical cord blood sampling may delay the first RBCT time of VLBWIs and reduce the rate of RBCT in the first three weeks, but do not affect the incidence of complications.

Anemia hemolítica fetal rápidamente progresiva en el pretérmino tardío: reporte de caso / Rapidly progressive fetal hemolytic anemia in the late preterm: case report and literature review

Resumen ANTECEDENTES: La isoinmunización Rh es el principal factor de riesgo de anemia fetal. Cuando ésta es moderada o severa la transfusión intrauterina antes de las 34 semanas, y el nacimiento del feto luego de las 37, son las opciones de tratamiento más aceptadas. CASO CLÍNCO: Paciente de 29 años, con 34 semanas de embarazo, con antecedentes de tres gestaciones que terminaron en dos partos y una cesárea e isoinmunización Rh con secuela neurológica por anemia hemolítica. Hallazgo de Coombs indirecto positivo 1/512 y velocidad pico sistólica de la arteria cerebral media de 57 cm/s. Registro cardiotocográfico reactivo y seguimiento ambulatorio semanal. Retornó a Urgencias debido a la percepción de contracciones uterinas esporádicas. El feto se encontró con 140 lpm, peso de 2760 g y cuantificaciones correspondientes a anemia leve. La cordocentesis reportó Hb = 7.7 g/dL; "O" Rh (+). El embarazo terminó mediante cesárea con el nacimiento de una niña de 2702 g, Apgar 9/9, hemoglobina neonatal de 7.9 y 7 g/dL, bilirrubina total de 6.8 y 10.71 mg/dL (a las 4 y 7 horas después del nacimiento). Se efectuó exanguinotransfusión en dos oportunidades por anemia recidivante, fototerapia intensiva durante 5 días, fue dada de alta a los 25 días. CONCLUSIONES: Es importante analizar y cuantificar los riesgos de prolongar el embarazo más allá de las 34 semanas y aplicar transfusión intrauterina versus interrumpirlo y continuar el tratamiento de forma extrauterina; después de las 35 semanas los riesgos de los procedimientos superan los del parto pretérmino.

Abstract BACKGROUND: Rh isoimmunization is the main risk factor for fetal anemia. When this is moderate or severe intrauterine transfusion before 34 weeks, and the birth of the fetus after 37, are the most accepted treatment options. CLINICAL CASE: A 29-year-old patient, 34 weeks pregnant, with a history of three pregnancies that ended in two deliveries and a C-section and Rh isoimmunization with neurological sequelae due to hemolytic anemia. Finding of positive indirect Coombs 1/512 and VPS-ACM = 57 cm/s. Reagent cardiotocographic record and weekly ambulatory follow-up. He returned to the Emergency Department due to the perception of sporadic uterine contractions. The fetus was found with 140 bpm, weight of 2760 g and quantifications corresponding to mild anemia. The cordocentesis reported Hb = 7.7 g/dL; "O" Rh (+). The pregnancy was terminated by caesarean section with the birth of a girl of 2702 g, Apgar 9/9, neonatal hemoglobin of 7.9 and 7 g/dL, total bilirubin = 6.8 and 10.71 mg/dL (at 4 and 7 hours after birth). Exchange transfusion was performed twice due to recurrent anemia, intensive phototherapy for 5 days, and was discharged after 25 days. CONCLUSIONS: It is important to analyze and quantify the risks of prolonging a pregnancy beyond 34 weeks and apply intrauterine transfusion versus interrupting it and continuing the treatment extrauterine; After 35 weeks, the risks of the procedures surpass those of preterm delivery.

The activity of factor VIII and IX of cord blood at mid-trimester in fetuses without hemophilia

PURPOSE: Molecular genetic analysis is the main approach used for prenatal diagnosis of hemophilia A and B. However, in certain cases, such analysis is uninformative. In such situations, direct measurement of fetal coagulation factor levels is still the best option, and it may be the only option in some cases. This study was conducted to determine the normal ranges of midtrimester cord blood factor VIII (FVIII) and IX (FIX) in a Korean population. MATERIALS AND METHODS: Twenty-six FVIII samples and 29 FIX samples were assayed in fetal cord blood acquired by ultrasound-guided cordocentesis. Sampling was conducted during gestational ages of 19-24 weeks. RESULTS: The mean and standard deviations for FVIII and FIX activity were 45.5±30.5% and 19.9±12.2%, respectively. Ranges for FVIII and FIX were 1.5-125.0% and 6.0-52.0%, respectively. CONCLUSION: Our study revealed the normal ranges and lowest level of factor VIII and factor IX in non-affected normal fetus by fetal cord blood sampling during the mid-trimester in a Korea population. The factor assay of the fetal cord blood is invasive but feasible and provides important basic data related to hemophilia.

2 475 cases of fetal karyotype detection and prenatal diagnosis indications analysis / 重庆医学

Objective To analyze the chromosome karyotypes,prenatal diagnosis indications and pregnancy outcomes of high-risk pregnant women in Guangzhou.Methods 2 475 cases pregnant women with screening high risk were operated amniocen-tesis or cordocentesis from January 2010 to September 2012,then amniotic fluids and cord bloods were cultured and the cell were collected for chromosome preparation,G banding,karyotype analysis.We completed follow-up works lastly.Results 38 cases were detected chromosomal abnormality(including 12 cases Down′s syndrome,9 cases sex chromosome abnormality,7 cases transloca-tion,5 cases Edwards′syndrome,2 cases inversion,2 cases deletion,1 cases triploid),the abnormal rate was 1.54%.132 cases were detected chromosomal polymorphism(60 cases 1,9,16qh+ ,30 cases inv(9),25 cases D/Gs+ ,17 cases Y polymorphism).Research on prenatal diagnosis indications,there were 449 cases advanced age,668 cases Down′s screening with high risk,158 cases with ab-normal B ultrasound screening,38 cases with adverse pregnancy history.Conclusion The highest percentage abnormal karyotype is Down′s syndrome.Down′s screening high risk is the main reason for prenatal diagnosis.It is very important to do prenatal diagnos-tic and system B ultrasound for the high-risk pregnant women.

Invasive prenatal diagnostic procedures in twin gestations / 中华围产医学杂志

Objective To evaluate the effectiveness and safety of invasive procedures of prenatal diagnosis for twin gestations through analysing the results and outcomes of twins.Methods Invasive prenatal diagnostic procedures guided by ultrasound were introduced to 164 twin pregnancies with various indications,including 111 amniocentesis,and 53 cordocentesis.The results of prenatal diagnosis,complications and outcomes of these twins were analyzed with Chi-square test or Fisher's exact test.Results (1) Chromosome was examined in 261 fetuses and 6.13% (16/261)had abnormal karyotypes.(2) Comparing amniocentesis with cordocentesis,the fetal loss rate within two weeks after the procedure were 0.00% (0/191) and 3.85% (3/78),respectively (P=0.024).The total fetal loss rate and preterm delivery rates in amniocentesis and cordocentesis group were 3.87% (6/155) and 5.45% (3/55),51.22% (42/82)and 38.71% (12/31),respectively (P=0.235and 0.618).(3) Selective feticide was performed on 18 cases after prenatal diagnosis.Fifteen cases had survival neonates,two cases suffered from spontaneous abortion,and two cases had preterm labor with neonatal death.Conclusions (1) Invasive prenatal diagnostic procedures are effective and feasible in twins.Amniocentesis is a relative safer and simpler alternative to cordocentesis,which demanding higher skill and carrying higher fetal loss rate.(2) Mid-trimester selective feticide after prenatal diagnosis appears safety.Before the procedure,the chorionicity and fetal condition should be considered,in order to choose suitable feticide procedures.

Papel de la medición de la velocidad sistólica máxima en arteria cerebral media en la isoinmunización rhesus / Fetal middle cerebral artery peak systolic velocity in rh isoimmunization

Objetivo: Evaluación del papel de la velocidad sistólica máxima en arteria cerebral media (VSM-ACM) en casos de isoinmunización Rh. Métodos: 67 casos de isoinmunización Rh, en el Hospital La Paz desde febrero del 2006 hasta agosto del 2009, con título de anticuerpos > 1:32, afectación en embarazo previo y/o casos de isoinmunización anti- Kell, en los que se ha realizado medición de la VSM-ACM. Resultados: La capacidad de detección de anemia moderada-severa en base a la medición de VSM-ACM presenta: sensibilidad 80 por ciento (IC95 por ciento: 59,8-100), especificidad y valor predictivo positivo 100 por ciento, y valor predictivo negativo 85,7 por ciento (IC95 por ciento: 70,7-100). El coeficiente de correlación de Pearson entre la hemoglobina estimada y la real es de 0,71. Conclusión: La medición de VSM-ACM predice casos de anemia moderada y severa que son los clínicamente cruciales por la necesidad de actuación obstétrica activa en forma de transfusión intrauterina o finalización del embarazo.

Objective: To evaluate the fetal middle cerebral artery peak systolic velocity (MCA-PSV) in the management of Rh isoimmunized pregnancies. Methods: 67 pregnancies complicated by Rh isoimmunization, in La Paz Hospital ( Madrid) since 2006 February until 2009 August 2009, with maternal antibody titers > 1:32, affected in previous pregnancies and/or anti-Kell isoimmunization, in which MCA-PSV has been measured. Results: For the detection of moderate-severe fetal anemia, Doppler ultrasonography of the middle cerebral artery had a sensitivity of 80 percent (CI95 percent: 59.8-100), a specificity and positive predictive value of 100 percent, and a negative predictive value of 85.7 percent (CI95 percent: 70.7-100). The Pearson correlation coefficient between estimated hemoglobin and real hemoglobin is 0.71. Conclusion: The measurement of MCA-PSV predicts moderate-severe fetal anemia cases, which are the most important in the clinical management because of the need of active treatment with intrauterine transfusion or induction labor.

Transfusión intrauterina por cordocentesis: efectos adversos inmunohematológicos e impacto en el neonato / Introuterine transfusion by cordocentesis: adverse immunohematological effects and impact on the newborn

Objetivos: Evaluar las complicaciones inmunohematológicas producidas por las madres sensibilizadas que son sometidas a transfusión intrauterina (TIU) y su impacto en el recién nacido (RN). Materiales y métodos: Se realizó un trabajo retrospectivo que incluyó 22 pacientes (ptes) de alto riesgo (20 con anti D, 1 anti C y 1 anti E) a las que se les realizaron tratamiento con TIU, los datos se obtuvieron de la historia clínica de la madre, del RN y fichas inmunohematológicas del servicio de medicina transfusional, a las pacientes se le realizaron controles inmuno - hematológicos en la primera consulta y luego cada 15 días hasta finalizar el embarazo lo que incluyó titulación más dosaje ponderal de anticuerpo, luego cada dos TIU se realizó panel identificador. Resultados: Del total de las ptes; 3 desarrollaron nuevos ac. después del 4° procedimiento, en dos pacientes se sumó un anticuerpo (Ac) y una pte formó 2. Al determinar la causa probable de la formación de dichos Ac se encontró: Un anti C que fue asociado al pasaje de sangre fetal a la madre, un anti Kell a los GR transfundidos, y en los ac anti c y Jka no se pudo dilucidar su origen. El 73% de las ptes elevó los títulos después de las TIU. La relación entre aumento de títulos y n° de TIU fue del 31% posterior a la 1a., el 56% a la 2a., 13% a la 3a. o más. El 69% de las ptes aumentó los títulos una única vez, independientemente del número de punciones y el 31 % ascendió con cada estímulo. En 9 ptes las TIU fueron transplacentarias y todas ellas elevaron los títulos de Ac; en las 13 no transplacentarias solo 7 aumentaron. Del total de RN, 52% tuvo como complicación anemia tadía un 19% recibió exanguíneotransfusión y el resto sin complicación. El dosaje ponderal de Ac se elevó más que los títulos en los casos de mayor afección en RN. Conclusión: Las complicaciones inmunohematológicas por TIU son frecuentes y pueden afectar el futuro obstétrico y transfusional de la madre... (TRUNCADO)

Objectives: Assess the immunohematological complications intrauterine transfusion (lUT) produced in sensitized mothers and its impact on the new born (NB). Materials and methods: A retrospective study was carried out, including 22 high risk patients (20 with anti-­D antibodies, 1 with anti-c antibodies and 1 with anti-E antibodies) which underwent percutaneous umbilical cord blood transfusion (or IUT), the data were obtained from the mothers and the newborns clinical chart as well as immunohematological record cards of the transfusion medicine department. Imunohematological testing including antibody titre and ponderal antibody quantitation was carried out at each patients first ap pointment and thenceforward every two weeks until the end of pregnancy, and cell panel antibody screening after every second IUT. Results: Out of the total of 22 patients; 3 developed new antibodies following the 4th procedure, two patients added one new antibody and one patient formed two antibodies. When determining the probable cause for these antibodies, the following was found: in one case an Anti-C antibody was linked to fetal-to-maternal hemorrhage, an anti-Kell antibody as reponse to antigens from the transfused red cells; and the origin of an anti-c antibody and an anti-Jka could not be explained. Increased antibody titre after IUT was found in 73% of the patients. Increase of titre regarding number of IUTs: 31% following the first procedure, 56% after the second and 13% after 3 or more procedures. Aside from the number of IUTs, in 69% of the cases the titre increased only once, while 31% of the patients suffered increase with each antigenic stimulus. Antibody titre increased in all 9 patients that under­went transplacental IUT; while only 7 of the 13 nontransplacental cases did. Late onset anemia occured in 52% of the newborns, and 19% required exsanguinotransfusion. The rest did not have any complication... (TRUNCADO)

Comparison of cordocentesis and intrahepatic umbilical vein sampling with ultrasonographic guidance in the ovine fetus / 中国医学影像技术

Objective To compare success and complication rate of cordocentesis (CC) with intrahepatic umbilical vein sampling (IUVS) under the guidance of ultrasonography in ovine fetus. Methods Twenty near-term singleton pregnant ewes were randomly divided into CC group and IUVS group (each n=10). All of the ewes underwent CC or IUVS in ovine fetus guided with ultrasonography. Success and complication rate of CC and IUVS were calculated. Results Success rates of IUVS on the first, less than 3 times and 5 times attempt was 32.00%, 68.00% and 84.00%, respectively, higher than that of CC (15.00%, 40.00% and 75.00%, respectively, P0.05). Conclusion Fetal IUVS may be a reasonable option to obtain fetal intravascular access and facilitate therapeutic intervention.

Detection rate of chromosomal abnormalities in women with different indications for invasive prenatal diagnosis and procedure-related complications / 中华围产医学杂志

Objective To discuss the detection rate of chromosomal abnormalities in women with different indications for invasive prenatal diagnosis(amniocentesis and eordocentesis), and the procedure-related complications. Metheds A retrospective analysis was conducted on 1264 women, who underwent invasive prenatal diagnosis (1082 amniocentesis and 182 eordocentesis), and the procedure-related complications were reviewed. Results The indications for invasive prenatal diagnosis in these 1264 women were: increased risk at prenatal screening (651, 51.5%), advanced maternal age (≥35) (318, 25.2%), abnormal foundings through uhrasonograph (136, 10.8%),history of adverse pregnancy (88, 6.9%), one or two abnormal serologic markers (52,4.1%), and chromosomal balance translocation carrier in either one of the couple(19, 1.5%). Thirty-seven cases were found to be chromosomal abnormalities with clinic significance and the indications for them were: ultrasonic abnormality (20/136, 14.7%); increased risk at prenatal screening (12/651, 1.8%); one or two abnormal serologic markers (1/52, 1.9%); history of adverse-pregnant (1/88, 1.1%)chromosomal balance translocation carrier in either one of the couple (3/19, 15.8%); advanced maternal age (0/318). Among the 1264 cases, 5 experienced spontaneous abortion and the procedure-related fetal loss rates were 0.28% for amniocentesis (3/1082) and 1.09% for cordocentesis (2/182), P=0. 154. The rate of complications after cordocentesis was significantly higher than amniocentesis (9.89 % vs 0.18 %, P= 0.0001). Conclusions Routine fetal karyotyping should be prompted after prenatal ultrasonographic abnormalities. However, invasive prenatal diagnosis due to advanced maternal age alone is controversial. Amniocentesis is the fist choice for invasive prenatal diagnosis.

Cariotipos fetales mediante amniocentesis y cordocentesis en Costa Rica

Objetivo: Identificar cromosomopatía fetal en embarazos de alto riesgo, así como brindar adecuada atención obstétrica, pediátrica y asesoramiento genético. Material y métodos: En 290 embarazadas se obtuvieron células fetales mediante amniocentesis, realizadas desde enero de 2000 hasta agosto de 2003 inclusive, en hospitales de la seguridad social y en la consulta privada. La indicación de las punciones fue por examen ultrasonográfico anormal en 44% de los casos y por edad materna avanzada en 39%. El 91% de los estudios se realizaron en el segundo trimestre del embarazo. Se utilizó el sistema cerrado de histocultivo y la cosecha por suspensión. El resultado final se obtuvo en 16 días (mediana). Durante el mismo periodo se estudiaron 18 embarazos mediante cordocentesis y cariotipo fetal. La indicación en todos los casos, excepto uno, fue examen ultrasonográfico anormal. Las cordocentesis se realizaron desde la semana 17 hasta la 35. Resultados: Los 230 cariotipos fetales obtenidos en muestras de líquido amniótico fueron anormales en 28 casos (12%). Se encontró concordancia entre el cariotipo y el fenotipo del feto o recién nacido, al igual que entre el diagnóstico ultrasonográfico fetal y la condición del neonato. El cariotipo en muestras de sangre fetal fue anormal en el 27% de los estudios. Conclusiones: La cromosomopatía fetal es la responsable de un buen número de alteraciones sonográficas durante el embarazo y de desenlaces obstétricos desfavorables. Conviene su detección precoz para tratar de minimizar el daño asociado a estos defectos citogenéticos.

Objective: The identification of fetal abnormal chromosomes to allow proper pediatric and obstetric management of the cases as well as genetic counseling. Material and methods: The results of 290 genetic amniocentesis from January 2000 to August 2003, are reported. There were two main reasons for referral: abnormal ultrasound assessment (44% of cases) and advanced maternal age (39%). Most procedures (91%) were performed during the second trimester of pregnancy. Fetal cells were closed cultured and suspension harvested. Turn around time was 16 days median. G banded (300-400 bands resolution) chromosomes from 20 cells provided by two independent cultures were karyotyped in each case. The results of 18 genetic percutaneous umbilical cord samplings from January 2002 to August 2003, are also reported. Almost all procedures were performed due to abnormal ultrasound findings from gestational week 17 to 35. Results: In 230 fetal karyotypes obtained from amniotic fluid, 27 (12%) were abnormal, due to 12 autosomal trisomies , three cases of monosomy X, three mosaics involving chromosome X, three triploid karyotypes, two balanced translocations of maternal origin, one structurally abnormal chromosome and three other defects of sexual chromosomes in males. Prenatal cytogenetic and sonographic findings correlated with the fetal or newborn phenotype in all cases available for follow-up. Fetal abnormal chromosomes obtained from fetal blood were: two cases of trisomy 13, one fetus with trisomy 18, and one case of trisomy 21. Conclusion: Chromosome defects are an important reason for ultrasonographic fetal abnormalities and adverse pregnancy outcomes. Normal results provided reassurance to the parents.

Clinical Analysis of Prenatal Cytogenetic Diagnoses: Four-year Experience at Asan Medical Center / 대한산부인과학회잡지

OBJECTIVE: To review and evaluate a total of 2,372 cases of prenatal cytogenetic diagnoses at Asan Medical Center from 1999 to 2002. METHODS: We reviewed the medical records of the patients in whom the procedure for prenatal cytogenetic diagnosis was performed. A total of 1780 cases of amniocentesis, 455 cases of cordocentesis, and 137 cases of chorionic villus sampling were analyzed. The cytogenetic results, indications for prenatal cytogenetic diagnoses, maternal ages, and the profiles of abnormal karyotypes were reviewed. We calculated the positive predictive value of each indication for abnormal fetal karyotypes and evaluated a factor that was the most sensitive marker for abnormal fetal karyotypes. RESULTS: Among the 2,372 cases of prenatal cytogenetic diagnoses, abnormal karyotypes were identified in a total of 158 cases (6.7%). The most frequent indication for prenatal cytogenetic diagnosis was abnormal maternal serum screening (33.9%), followed by ultrasonographic abnormality (22.9%) and old age (20.0%). No significant difference was found between mean maternal age with and without abnormal fetal karyotypes after excluding balanced rearrangements and polymorphisms (31.9 +/- 5.3 vs. 32.1 +/- 4.5 years). Among the 92 cases of abnormal fetal karyotypes after excluding balanced rearrangements and polymorphisms, the most frequent indication for prenatal cytogenetic diagnosis was ultrasonographic abnormality (58.7%), followed by abnormal maternal serum screening (10.9%). The positive predictive value of ultrasonographic abnormality for abnormal fetal karyotype was 9.9%. CONCLUSION: Among the several indications for prenatal cytogenetic diagnosis, ultrasonographic abnormality could be the most predictive marker for abnormal fetal karyotypes.

Is Transient Bradycardia Following Cordocentesis Associated with Adverse Pregnancy Outcome? / 대한산부인과학회잡지

OBJECTIVE: To evaluate the association between transient bradycardia following cordocentesis and adverse pregnancy outcome. METHODS: 117 cordocentesis was performed at Samsung Cheil hospital and women's healthcare center, between January 1, 2000, and December 31, 2002. Clinically significant bradycardia was defined as a drop in the heart rate to less than 120 bpm. The adverse outcome included major anomaly, chromosomal abnormality, intrauterine growth restriction, preterm birth, and intrauterine fetal death. RESULTS: Bradycardia following cordocentesis was observed in 13 cases (11.1 per cent). The fetal heart rate before (149.2 +/- 0.7 bpm) and after (144.7 +/- 2.8 bpm) cordocenteis was significantly different. The adverse outcome rate was 50.0 per cent (6/12) in cases with bradycardia and 27.7 per cent (26/94) in those without bradycardia (RR=2.6, P=NS). CONCLUSION: Our result is that the association between transient bradycardia following cordocentesis and adverse pregnancy isn't statistically significant, even though adverse outcome is more frequent in pateints with bradycaredia. Therefore, patient with bradycardia following cordocentesis need periodic fetal surveillance.

Is Transient Bradycardia Following Cordocentesis Associated with Adverse Pregnancy Outcome? / 대한산부인과학회잡지

OBJECTIVE: To evaluate the association between transient bradycardia following cordocentesis and adverse pregnancy outcome. METHODS: 117 cordocentesis was performed at Samsung Cheil hospital and women's healthcare center, between January 1, 2000, and December 31, 2002. Clinically significant bradycardia was defined as a drop in the heart rate to less than 120 bpm. The adverse outcome included major anomaly, chromosomal abnormality, intrauterine growth restriction, preterm birth, and intrauterine fetal death. RESULTS: Bradycardia following cordocentesis was observed in 13 cases (11.1 per cent). The fetal heart rate before (149.2 +/- 0.7 bpm) and after (144.7 +/- 2.8 bpm) cordocenteis was significantly different. The adverse outcome rate was 50.0 per cent (6/12) in cases with bradycardia and 27.7 per cent (26/94) in those without bradycardia (RR=2.6, P=NS). CONCLUSION: Our result is that the association between transient bradycardia following cordocentesis and adverse pregnancy isn't statistically significant, even though adverse outcome is more frequent in pateints with bradycaredia. Therefore, patient with bradycardia following cordocentesis need periodic fetal surveillance.

Prenatal Diagnosis of Congenital Rubella Using Percutaneous Umbilical Blood Sampling in Pregnant Women with Rubella Infection / 대한산부인과학회잡지

OBJECTIVE: To evaluate the usefulness of percutaneous umbilical blood sampling (PUBS) and prevalence of fetal infection in the pregnant women with suspicious fetal rubella infection. METHODS: Between June 1996 and May 2002 in Chonnam National University Hospital, the rubella specific IgG, IgM antibody and RT-PCR were checked in fetal blood obtained from 31 pregnant women with high risk of rubella infection. Eighteen women (58.1%) had rubella specific IgM, 11 women (35.5%) high titer of rubella specific IgG, and 2 women had a history of recent rubella vaccination within 3 months. RESULTS: PUBS was performed in all cases, successful in 27 cases (87.1%) and failed in 4 cases (12.9%). Cardiocentesis was performed in failed cases. Performing the PUBS, fetal bradycardia was observed in 7 cases (25.9%), fetal tachycardia in 1 case (14.8%), and preterm labor in 2 cases (7.4%). Performing cardiocentesis, fetal bradycardia was observed in 1 case (25.0%), fetal tachycardia in 2 cases (50.0%), and preterm labor in 1 case (25.0%). There was no fetal death. All samples of fetal blood were positive for rubella specific IgG but rubella specific IgM was detected in only 1 case. RT-PCR was negative in all cases. CONCLUSION: Fetal blood sampling is relatively safe and a great precaution is necessary before termination of pregnancy with suspicious fetal rubella infection and without typical maternal rash to reduce unnecessary termination of pregnancy. Several tests such as rubella specific IgM and PCR from placental villi, amniotic fluid, and fetal blood should be considered before termination of pregnancy.

The Association of Fetal Heart Rate Pattern following Cordocentesis with Pregnancy outcome / 대한산부인과학회잡지

OBJECTIVE: The cordocentesis is regarded as an useful procedure for the prenatal evaluation of fetal disease, but it's complications are fetal loss, umbilical cord bleeding, umbilical cord hematoma, fetal bradycardia, fetomaternal hemorrhage, abruptio placentae, and chorioamnionitis due to it's invasiveness. The fetal bradycardia following cordocentesis is transient and self-limited in most cases, and the prevalence rate of fetal bradycardia following cordocentesis was reported to be between 1.5 and 13 per cent. The purpose of this study was to evaluate the association of fetal heart rate pattern following cordocentesis with adverse pregnancy outcome. METHODS: We investigated retrospectively the fetal heart rate following cordocentesis, the Apgar score of neonate, the birth weight of neonate, gestational age at delivery, preterm delivery, intrauterine growth retardation, stillbirth, and chromosome analysis in 64 codocenteses between 1 February 2000 and 28 February 2001. Normal fetal heart rate was defined as 100 up to 170 bpm, fetal bradycardia as less than 100 bpm lasting one more minute, and fetal tachycardia as more than 170 bpm lasting one more minute. RESULTS: 1. Fetal heart rate pattern following the cordocentesis was normal in 53 cases (82.8%), bradycardia in 6 cases (9.4%) and tachycardia in 5 cases (7.8%). 2. The pregnancy outcome was well-being fetus at birth in 51 cases, terminated pregnancy in 5 cases, intrauterine growth restricted fetus in 5 cases, preterm birth in 1 case and intrauterine death in 2 cases. 3. Mean Apgar-1minute/-5minute scores in neonates were 8.4 +/- 0.2/9.3 +/- 0.2 in the normal fetal heart rate group, 6.8 +/- 1.7/7.6 +/- 1.9 in fetal bradycardia group and 8.4 +/- 0.2/9.4 +/- 0.2 in fetal tachycardia group, that showed no statistically significant difference between groups. 4. The gestational weeks at birth/birth weight were 38.9 +/- 0.4 weeks/3193 +/- 90 g in normal fetal heart rate group, 36.8 +/- 3.2 weeks/2733 +/- 340 g in bradycardia group and 40.0 +/- 0.2/3465 +/- 21 g in tachycardia group, that showed no statistically significant difference between groups. 5. The number of puncture at the same time of cordocentesis was one in 45 cases, two in 15 cases and three in 4 cases. 6. There was no difference in fetal heart rate pattern following cordocentesis between 60 cases of normal and 4 cases of abnormal cardiovascular findings sonographycally. 7. The karyotyping was normal in 60 cases and abnormal in 4 cases, each of which was 46,XY,inv(9),46,X,i(Xq)/45,X,47,XY,+mar, and 46,XX,t(7;15)(q10;q10) respectively. CONCLUSION: Fetal bradycardia or tachycardia following cordocentesis was not associated with adverse pregnancy outcomes.

Fetal karyotyping by color Doppler ultrasound-guided percutaneous umbilical blood sampling with fetuses cardiac anomalies / 中华超声影像学杂志

Objective To perform fetal karyotyping by percutaneous umbilical blood sampling guided by color Doppler ultrasonography in fetuses with congenital cardiac anomalies. Methods Fetal blood samples obtained by color Doppler ultrasound-guided cordocentesis in 56 fetuses with cardiac abnormalities detected by fetal echocardiography were taken for karyotyping.Fetuses were monitored post operation. Results The procedures were successfully performed in all cases and no procedure-related complications occurred.Six cases with abnormal karyotypes, 1 trisomy 21,2 trisomy 18,1 trisomy 13,1 trisomy AO and 1 cases 47XYY were identified and pre-operation ultrasonography detected multiple system anomalies besides cardiac anomalies in them. Conclusions Color Doppler ultrasonography facilitated percutaneous umbilical blood sampling by clear umbilical vein imaging and shortening the operation time.Abnormal karyotypes in fetuses with cardiac anomalies seemed to be related with multiple system anomalies.

Cordocentesis for prenatal diagnosis and therapy: experience of 461 cases / 대한산부인과학회잡지

OBJECTIVE: We report our experience with cordocentesis for prenatal diagnosis and therapy. The clinical effect and safety of cordocentesis were evaluated. MATERIALS AND METHODS: From June 1997 to December 2001, cordocentesis was performed on 461 fetuses at Asan Medical Center. The clinical characteristics of the patients and the results of each procedure were reviewed retrospectively. RESULTS: The mean gestational age at the time of cordocentesis was 25.0 weeks. The most common indication was rapid karyotyping (93.3%) and was followed by the risk of fetal infection (3.5%). Of 461 cordocentesis, 452 (98.0%) were done successfully at the first attempt. The procedure-related complications included transient bleeding at puncture site (0.7%), and transient fetal bradycardia (0.2%). There was no procedure-related fetal loss. The other obstetric complications were comparable with those in the general population. CONCLUSION: We conclude that cordocentesis is a useful, safe and effective procedure for fetal diagnosis and therapy.

Cordocentesis: Clinical Analysis of 112 Procedures / 대한산부인과학회잡지

OBJECTIVE: This study was performed to assess the safety and efficacy of the diagnostic cordocentesis in prenatal diagnosis. METHODS: Between March 1998 and February 2002, percutaneous umblical cord blood samplings under the ultrasonographic guidance were performed in 112 patients. We reviewed the medical records of 112 patients who were performed cordocentesis. RESULTS: Gestational age ranged between 17 and 36 weeks. The mean maternal age was 29.6 years and the mean gestational age at the time of cordocentesis was 27.8 weeks. Among the patients, 83 cases (74.1%) were done with the indication of abnormal sonographic finding and followed by rapid karyotyping. Pure fetal blood was successfully obtained in 105 cases of 112 cordocentesis (93.8%). 99 cases (88.4%) were done successfully at the first attempt. Chromosomal abnormalities were found in 9 of 103 fetuses (8.7%). Abnormal chromosomal patterns were found in 8 of 70 fetuses (11.4%) with structural anomalies detected by ultrasonography. The procedure-related complication, fetal bradycardia occured in 3 cases (2.7%). CONCLUSION: We conclude that cordocentesis is a useful, relatively safe, and effective procedure for prenatal diagnosis.