妊娠早期胎儿颈部透明层厚度与胎儿预后的前瞻性队列研究

目的探讨妊娠早期胎儿颈部透明层(NT)厚度与胎儿预后的关系。方法收集2015年12月至2018年12月于南京大学医学院附属鼓楼医院行妊娠早期胎儿NT厚度测量的单胎孕妇,共4958例建立前瞻性研究队列,进行妊娠早期胎儿结构超声筛查、妊娠早期血清学筛查、妊娠中期超声筛查及对新生儿出生后28 d的体格检查。根据妊娠早期超声筛查的结果,分为胎儿NT增厚(≥3.0 mm)者167例与NT厚度正常者4791例;将胎儿NT增厚的孕妇,分为胎儿单纯NT增厚者86例与NT增厚合并结构异常者81例。分析不同NT厚度胎儿的预后,并重点对单纯NT增厚与NT增厚合并结构异常胎儿的妊娠结局进行分析。妊娠早期超声筛查发现胎儿结构异常或血清学筛查结果为高风险的孕妇,经绒毛穿刺取样术行染色体微阵列分析(CMA)检测以明确产前诊断。结果(1)胎儿NT厚度正常孕妇的妊娠结局:共4791例孕妇,包括胎儿NT厚度正常且无结构异常者4726例,其中妊娠中期及产后新诊断结构异常83例,4688例活产;胎儿NT厚度正常但结构异常的孕妇65例,其中61例孕妇终止妊娠,4例活产。(2)胎儿单纯NT增厚孕妇的妊娠结局:86例孕妇中,66例(76.7%,66/86)行CMA检测,3例胎儿诊断为21三体综合征;除7例孕妇选择终止妊娠外,余79例行妊娠中期超声检查、新生儿出生后28 d体格检查、新生儿电话随访至6~21个月均未发现发育异常。(3)胎儿NT增厚合并结构异常孕妇的妊娠结局:81例孕妇中,73例(90.1%,73/81)行CMA检测,其中32例的胎儿为染色体非整倍体异常。70例选择终止妊娠,2例妊娠中期自然流产,9例活产。(4)NT增厚是否合并结构异常胎儿的产前诊断结果及预后比较:单纯NT增厚的胎儿染色体非整倍体的发生率为3.5%(3/86),合并结构异常者为39.5%(32/81),两者比较,差异有统计学意义(χ2=32.7,P<0.01);胎儿单纯NT增厚孕妇的健康新生儿存活率为91.9%(79/86),合并结构异常者为9.9%(8/81),两者比较,差异有统计学意义(χ2=112.3,P<0.01)。结论妊娠早期,超声筛查胎儿NT及结构,能提高出生缺陷的产前筛查率。单纯NT增厚胎儿的染色体非整倍体的发生率较低,新生儿健康存活率较高。     

Prenatal sonographic findings in 207 fetuses with trisomy 21

OBJECTIVE: The objective was to evaluate the contribution of second trimester ultrasound examination to the prenatal diagnosis of trisomy 21 in 207 fetuses with this aneuploidy. The type and frequency of abnormal sonographic findings were determined. Possible multiple malformation patterns, characteristic of trisomy 21 were sought. STUDY DESIGN: Singleton fetuses that had prenatal sonography during the second trimester, then underwent cytogenetic evaluation in our institution, made up the study population. The sonographic findings of 207 fetuses with trisomy 21 were analyzed. RESULTS: Between 1990 and 2004, fetal karyotyping was performed in 22,150 patients for different indications. An abnormal karyotype was diagnosed in 514 cases (2.3%); among them 207 fetuses with trisomy 21 were detected (40.3%). Abnormal sonography was seen in 63.8% of the cases. Structural anomalies were detected in 28.5% of the trisomy 21 fetuses, among them cardiac defects (15.9%), central nervous system anomalies (14.5%), and cystic hygromas (6.8%) were the most common. Of the minor markers, increased nuchal translucency (28%), pyelectasis (20.3%), and shorter extremities (8.7%) were common findings. CONCLUSIONS: Appropriate diagnosis of structural anomalies, looking for relatively easily detectable minor markers and incorporating fetal echocardiography into the second trimester sonographic protocol, may increase the contribution of mid-trimester ultrasound examination to diagnosing trisomy 21.     

First-trimester diagnosis of cystic hygroma--course and outcome.

OBJECTIVE: We studied the outcomes of fetuses in whom cystic hygroma was diagnosed in the first trimester of pregnancy through the application of transvaginal ultrasonography. STUDY DESIGN: In the period 1990 to 1991 22 fetuses with cystic hygroma were found. All fetuses had karyotyping and a complete ultrasonographic search for associated anomalies. RESULTS: Aneuploidy was found in seven of 22 fetuses: four trisomy 21, two trisomy 18, and one translocation. Monosomy X was absent in this series. In 15 of 22 cases there was a normal karyotype. In 10 of 15 euploid fetuses the small nonseptated hygroma resolved spontaneously. In four of 15 euploid fetuses other malformations were detected with ultrasonography (i.e., polycystic kidneys, coarctation of the aorta, bladder outlet obstruction, and fetal hydrops). CONCLUSION: Whenever a cystic hygroma is suspected in the antenatal period, even if of small size, a structured and detailed ultrasonographic examination and fetal karyotyping are recommended.     

Quistes de plexos coroideos y riesgo de cromosomopatía

IntroductionSince they were first described in 1984, the presence of choroid plexus cysts during pregnancy have stimulated considerable debate concerning their possible relationship with chromosomal anomalies, mainly trisomy 18. Even today, the controversy persistsObjectiveTo identify which associated factors (cyst characteristics, associated anomalies and maternal age at diagnosis) should be considered to justify invasive karyotyping, bearing in mind that these techniques carry a risk of fetal lossMaterial and methodsWe analyzed data from one decade (January 1991-December 2000) corresponding to 26,500 fetuses who underwent ultrasound examination between weeks 14 and 22 of gestation. Choroid plexus cysts were considered as an ultrasound-negative formation of at least 3 mm in diameter located within the choroid plexusResultsChoroid plexus cysts were found in 366 fetuses (1.38%). Of these, eight fetuses presented chromosomal anomalies: six presented trisomy 18, one presented trisomy 21 and one showed chromosomal deletion at 6p. In all eight patients, choroid plexus cysts were bilateral and associated anomalies were detected. Mean maternal age was 36.5 yearsConclusionsWhen choroid plexus cysts are detected in the second trimester, detailed fetal investigation must be performed to find other possible markers of chromosomal anomalies even though some are difficult to detect ultrasonographically. Because the risk of fetal loss after amniocentesis is estimated at 1%, when other markers are absent, our results suggest that invasive karyotyping does not seem justified in pregnant women without additional risk factors     

Cystic hygroma: prenatal diagnosis and genetic counselling

Six cases of cystic hygromas detected during second trimester ultrasound examination are reported: 4 fetuses (67 per cent) had a 45, X karyotype, 1 fetus had trisomy 18, 1 fetus had a normal karyotype (46,XX) and at autopsy multiple anomalies were observed. In the latter case the family history suggested an autosomal recessive pattern of inheritance. In order to reach a definite diagnosis and give proper genetic counselling when a fetus is found to have cystic hygroma, a fetal karyotype as well as a family and reproductive history should be obtained.     

Karyotype and outcome of fetuses diagnosed with cystic hygroma in the first trimester in relation to nuchal translucency thickness

OBJECTIVES: To determine the incidence and to examine the karyotype and the outcome of fetuses diagnosed with cystic hygroma (CH) at 11-14 weeks of gestation. METHODS: The presence of bilateral cystic anechoic cavities in the neck, nuchal translucency (NT), malformations and hydrops was prospectively recorded in 6894 ultrasound examinations in the first trimester, between 2001 and 2004. RESULTS: Forty-two fetuses (0.62%) were diagnosed with CH in the first trimester of pregnancy and 60% of these had an abnormal karyotype. NT was > or = 3 mm in 83% and hydrops was present in 40% of the cases. The karyotype was abnormal in 25 (69%) of these, showing trisomy 18 and 45,XO more often than trisomy 21. NT was <3 mm in seven cases (17%); no hydrops was present and only one had an abnormal karyotype (47 + 18). Eight babies with CH without aneuploidy or hydrops were born alive, seven among them were without malformations and are developing normally at 1 to 18 months of age, the remaining one presented with CHARGE syndrome. CONCLUSIONS: CH is an independent entity from NT and its association with increased NT carries a poor prognosis.     

Increased nuchal translucency and cystic hygroma in the first trimester: prenatal diagnosis and neonatal outcome

OBJECTIVE: A prospective study of pregnancy outcome in fetuses with increased nuchal translucency above the 95th centile (group NT) or cystic hygroma (group CH) at 10 to 14 weeks of gestation was performed. PATIENTS AND METHODS: Maternal and fetal data (nuchal translucency, caryotype, pregnancy outcome) and infant follow-up of 223 fetuses with first trimester nuchal translucency thickness (183 NT and 40 CH) were analysed. RESULTS: The measurement of nuchal translucency thickness shows a significant difference between group CH and NT (7.4+/-2.9 mm compared 3.7+/-0.8 mm). Chromosomal abnormalities were present in 55% (22/40) in group CH, with 9 cases/22 (40.9%) of Turner syndrome, compared with 14.2% (26/183) in group NT with trisomy 21 in 15 cases/26 (57.7%) (P<0.05). The rate of unfavourable outcome of pregnancy (spontaneous abortion, elective termination of pregnancy, serious structural anomalies) was 80% (32/40) in group CH compared with 18% (33/183) in group NT (P<0.05). In chromosomally normal pregnancies, the rate of fetus with no visible serious structural anomalies was 44.4% (8/18) in group CH compared with 93% (146/157) in group NT (P<0.05). DISCUSSION AND CONCLUSION: Our data show ultrasonographic evaluation of the fetal nuchal translucency thickness at the first trimester is actually indispensable. Neonatal outcome and malformation rate in fetuses with increased nuchal translucency or cystic hygroma are different, even with normal karyotype.     

Diagnostic methods for fetal malformations in the first half of pregnancy

INTRODUCTION: Fetal abnormalities are the most common cause of perinatal and postnatal death and infant handicap. For this reason prenatal screening (for fetal malformation) has become a routine part of obstetric care in many countries. Most often used are biochemical tests and continuously developing ultrasound diagnostics which makes possible precise analysis of the fetal morphology. There is interesting to establish a noninvasive test for the early detection of fetal malformation in pregnancy which is based on ultrasound examination (NT measurement from the 10th to the 19th weeks, presence of nasal bone in the first trimester ultrasound), correlated with serum concentration of AFP, beta-HCG and oestriol in the second trimester of pregnancy (triple test). The main aim of the study was to establish a diagnostic schema for detection of fetal malformations based on NT measurement in the first and second trimester coupled with triple test performed in the second trimester. MATERIALS AND METHODS: A group of 775 pregnant women from the 10-th week of pregnancy until childbirth has been put under examination. Between the 10th and the 14th and than between 15th and 19th week of pregnancy ultrasound examination with fetal biometry and NT measurement was done. NT measurements have been performed in accordance with the standards worked out by professor K. Nicolaides. At the first ultrasound examination the presence of the nasal bone was observed. The next step was performing the triple test between the 15th and 19th week of pregnancy. On the same day as second ultrasound examination blood was taken to determine the results of the triple test (ELISA method). The obtained results have undergone statistical analysis. RESULTS: The age of women qualified for the examination oscillated between 15 and 45 (over 35 -9.4%). There were 8 fetal malformations recognized all connected with the chromosomal anomalies, namely, 4 Downs syndrome, 2 fetuses with trisomy of the 18th pair of chromosomes and 2 with triploidy. At all physiologic pregnancies nasal bone was seen during first ultrasound examination. The obtained results of nuchal fold measurements and concentrations for the parameters of the triple test have been the basis to calculate medians in the particular weeks of pregnancy. In all the cases of genetic malformations the widening of the nuchal fold above 99 percentile (MoM NT) has been observed. Fetal nasal bone were absent in 62.5% first trimester ultrasound examinations. The risk of the occurrence of a genetic malformation resulting from the mother's age combined with the risk connected with the NT measurements and the results of the triple test for the cut-off point 1:250 (which seems to be the best for this population) gave 100% sensitivity, 0.6% % of false positive results and the positive predictive value of 80%. The above mentioned results are better than the ones which were obtained within the triple test only, where for the previously fixed cut-off point 1:250 sensitivity reached 63%, positive predictive value 25% and 4.4% false positive rate. Performing the so-called integrated test in which the risk of the occurrence of any malformation is estimated on the basis of the NT measurement in the first and the second term of pregnancy seems to be far more useful. CONCLUSIONS: Diagnostic schema for detection of fetal malformations in the first half of pregnancy which is based on ultrasound examination (NT measurement from the 10th to the 19th weeks), correlated with serum concentration of AFP, beta-HCG and oestriol in the second trimester of pregnancy (triple test) is very sensitive and safe method of the prenatal diagnosis leading to significant decrease of the invasive procedures (amniocentesis).     

Detection of congenital heart defects throughout pregnancy; impact of first trimester ultrasound screening for cardiac abnormalities

Objective: To evaluate prospectively the efficacy to screen for congenital heart defects (CHD) during the first trimester nuchal translucency (NT) ultrasound examination by assessing the four chambers’ view of fetal heart. Methods: Pregnancies that were examined prospectively by ultrasound in the first trimester (11th–14th week), the second (19th–24th week) and third trimester were included in the study. 3774 fetuses were examined and fetal heart was assessed during the NT scan by examining the four chambers view. Detailed echocardiography was performed during the anomaly and growth scans. Diagnosis of congenital heart defects (CHD) was further confirmed by a fetal cardiologist. Results: The four chambers view was obtained in 99.52% of the cases. CHD were diagnosed in 29 fetuses (0.77%). Thirteen cases (44.8%) were detected during the 11–13 weeks’ scan, 14 cases (48.3%) during the anomaly scan, 1 CHD (3.5%) during the third trimester scan and 1 case (3.5%) postpartum. Conclusion: Assessment of the four chambers of fetal heart early in pregnancy was feasible and allowed the detection of 45% of CHD. Additional parameters of fetal cardiac anatomy during the NT scan may further improve the detection rate providing pregnancy management information early in the first trimester.     

Correlation of ultrasound findings and biochemical markers in the second trimester of pregnancy in fetuses with trisomy 21

OBJECTIVE: The aim of the present study was to assess possible correlations between ultrasound findings and maternal serum biochemical ('triple test') markers among fetuses with trisomy 21 in the second trimester of pregnancy. METHODS: The study was a retrospective cohort study of 72 pregnancies affected by trisomy 21 who had a second trimester ultrasound and biochemical screen performed at a single center between 1990 and 1999. The biochemical screen consisted of alpha-fetoprotein (AFP), total beta human chorionic gonadotrophin (hCG) and estriol (uE(3)). Marker levels were expressed in multiples of the median (MoM). The ultrasound findings assessed were major structural anomalies, short humerus length, short femur length, increased nuchal fold thickness (NF), hyperechoic bowel, echogenic intracardiac focus (EIF), ventriculomegaly, choroid plexus cysts and renal pyelectasis. RESULTS: Second trimester maternal serum biochemical markers and ultrasound findings appeared to be largely independent of each other. However, some significant correlations were observed. Estriol was significantly lower when a fetal cystic hygroma was detected on ultrasound compared to those with no cystic hygroma (0.40 vs. 0.70 MoM, p<0.05). The median hCG level was significantly lower in those pregnancies with a normal second trimester fetal ultrasound compared to those with positive ultrasound findings (2.07 vs. 2.87 MoM, p<0.05). Median hCG levels were also significantly higher in those cases with NF> or =5 mm as compared to those with NF<5 mm (2.99 vs. 2.49 MoM, p<0.05). This difference persisted after exclusion of the five cases with cystic hygromas (2.99 vs. 2.49 MoM, p<0.05). A significant positive correlation was observed between log(10) hCG and log(10) NF MoM (Spearman's rho=0.252, p<0.05). NF was significantly greater among fetuses with an identifiable cardiac defect compared with those without a detectable cardiac defect (median of 7.0 mm vs. 3.8 mm, p<0.01). This difference persisted when expressed as multiples of the median (2.8 vs. 1.3 MoM, p<0.01). CONCLUSION: Second trimester ultrasound and biochemical markers are largely independent in fetuses with trisomy 21, however significant correlations between the two were observed in the present series. These may be important in screening protocols that combine second trimester ultrasound and biochemical markers.     

Screening of chromosome anomalies during the first trimester

In view of today's knowledge, it is evident that a very efficient screening for chromosome anomalies can be carried out during the first trimester. Prospective studies of a total of 200,868 pregnancies-among them 871 fetuses with trisomy 21-have shown that measuring the nuchal transparency can identify 76.8% of fetuses with trisomy 21, with a false-positive rate of 4.2%. If the measurement of nuchal transparency is combined with that of the maternal serum concentrations of free human beta-choriogonadotropin and pregnancy-associated plasma A, the detection rate is 87.0% with a false-positive rate of 5% (prospective studies of altogether 44,630 pregnancies with 215 fetuses suffering from trisomy 21). At present, further signs of Down syndrome in the first trimester are being investigated, such as the missing fetal nasal bone, the maxilla and the blood flow pattern in the ductus venosus. Well-known signs of trisomy 13 and 18, which are already visible in the first trimester, are megacystis, omphalocele, polydactyly and holoprosencephaly. Most pregnant women prefer being screened during the first instead of the second trimester. Therefore every expectant mother should be offered an appropriate examination during the first trimester. It is essential for the effectiveness of the screening that the examiners be suitably trained and that the results of the ultrasound and laboratory examinations be subjected to a regular external quality control. In Austria, there is a general consent to follow the guidelines of the Fetal Medicine Foundation.     

Increased nuchal translucency at 11-14 weeks of gestation in congenital heart disease, genetic syndromes and adverse pregnancy outcome

Nuchal translucency (NT) measurement between 11-14 weeks of gestation is an'effective method of ultrasound screening for chromosomal fetal anomalies, congenital heart disease, some other structural abnormalities, rare genetic syndromes, skeletal dysplasia and adverse pregnancy outcome (spontaneous abortion and intrauterine fetal demise). The aim of the present study is to assess the prognostic value of increased first trimester NT in fetuses with normal karyotype in relation to pregnancy outcome.     

First-trimester fetal heart block and increased nuchal translucency: an indication for early fetal echocardiography

Prevalence of congenital heart disease increases with nuchal translucency (NT) thickness. First-trimester fetal bradycardia may result from heart block associated with complex congenital heart disease. We report two cases detected in the first trimester of pregnancy, in which both fetuses showed an increased nuchal translucency and bradycardia. Fetal karyotype was normal in both fetuses. First-trimester fetal echocardiography was performed and, in both cases, complex congenital heart disease was diagnosed. We discuss the added role of fetal heart rate in first-trimester ultrasound screening, in fetuses with increased nuchal translucency and normal karyotype. We stress, as well, the importance of echocardiography performed in the first trimester as a potential tool for early diagnosis in selected cases.     

First-trimester Down syndrome screening: component analytes and timing for optimal performance

The most effective first-trimester Down syndrome screening protocol in current use employs three independent markers: maternal serum levels of PAPP-A and free beta hCG, and measurement of fetal nuchal translucency (NT). Eleven weeks appears to be the optimum gestational age for performing first trimester DS risk assessment. Although the discrimination of free beta hCG improves with increasing gestational age and is greatest at 13 weeks, PAPP-A and NT perform optimally at 10 and 11 weeks, respectively. In addition to accurate pregnancy dating, first trimester screening performance is improved by using a consistent NT measurement technique, NT cut-offs adjusted for gestational age or crown-rump length, and possibly center- or operator-specific NT medians. Whether or not absence or presence of the nasal bone adds to screening accuracy is a matter of some debate. Finally, because enlarged NT has been associated with cardiac defects and other structural anomalies, even in euploid fetuses, its presence should prompt a targeted second trimester ultrasound examination.     

Fetal karyotyping after 28 weeks of gestation for late ultrasound findings in a low risk population

OBJECTIVE: To analyze the indications and the results of invasive testing for fetal karyotyping for ultrasound abnormality in the third trimester of pregnancy, when first- and second-trimester screening tests were negative. METHODS: Retrospective study of 171 consecutive pregnancies that underwent invasive testing after 28 weeks of gestation in 2 institutions between January 1999 and December 2001. Forty-one patients did not have any form of screening for fetal aneuploidy beforehand. One hundred and thirty of them had a normal first-trimester scan and a low risk of fetal aneuploidy by nuchal translucency and/or maternal serum screening and were included in the statistical analysis. RESULTS: Mean maternal age, gestational age at diagnosis and at invasive testing were 30.5 years; 29.3 weeks and 32.5 weeks respectively. Amniocentesis and fetal blood sampling were performed in 97 and 33 cases respectively.The most frequent indications for invasive testing in the third trimester were major fetal malformations (51%) and intrauterine growth restriction (19%) detected on routine second- or third-trimester ultrasound examination. Ultrasound markers of aneuploidy and polyhydramnios accounted for 17 and 11% of the indications respectively.Fetal karyotype was normal in 121/130 cases. A gene mutation was found in one case. The karyotype was abnormal in nine cases, including seven cases of aneuploidy (one Turner syndrome, three trisomy 18, and three trisomy 21) and two cases of structural chromosomal abnormalities (46,XX, del 4 p16.1 and 46,XX, dup1).One hundred cases resulted in the delivery of a normal baby. Thirty cases led to termination of pregnancy or intrauterine death due to major fetal malformations (N = 25), abnormal karyotype in six of these, and severe IUGR (N = 5) with normal karyotype. Fetal US markers of aneuploidy and isolated polyhydramnios were associated with a favorable outcome in all cases.A significant increase in the risk of chromosomal anomaly was seen when two or more anomalies were found, rising from 2% with one anomaly to 21% when two or more anomalies were present. CONCLUSION: In low risk patients, fetal karyotyping in the third trimester may be justified when the diagnosis of fetal malformation is made in the third trimester of pregnancy. Two or more anomalies increase the risk of fetal aneuploidy even with a negative-screening test in the first and second trimester of pregnancy.     

Choroid plexus cysts: Is biochemical testing a valuable adjunct to targeted ultrasonography?

OBJECTIVE: We sought to determine whether biochemical testing is a valuable adjunct to ultrasonography in selecting patients with fetal choroid plexus cysts for amniocentesis. STUDY DESIGN: The study population consists of 128 patients who had fetal choroid plexus cysts detected during ultrasonography performed between 18 and 22 weeks' gestation. The patients had genetic counseling, and amniocentesis and biochemical testing were offered to all patients. The data were analyzed by dividing the patients into 3 groups. Group 1 had targeted ultrasonography only, group 2 had ultrasonography and maternal serum alpha-fetoprotein testing, and group 3 had ultrasonography and triple-screen (maternal serum alpha-fetoprotein, human chorionic gonadotropin, and estriol) testing. Outcome was determined by fetal karyotype or by neonatal examination by a pediatrician for patients who declined amniocentesis. RESULTS: There were 25 patients in group 1. Isolated choroid plexus cysts were detected in 20 fetuses, and all had normal outcomes. Additional anomalies were detected in 5 fetuses. Two had normal karyotypes, and 3 had trisomy 18. There were 52 patients in group 2. The maternal serum alpha-fetoprotein levels were normal in 44 patients, 41 of whom had isolated fetal choroid plexus cysts. Of these 44 patients, 40 had normal outcomes, and 1 patient had a fetus with trisomy 18. The remaining 3 patients with normal maternal serum alpha-fetoprotein levels had additional fetal anomalies on ultrasonography, but the karyotypes were normal. The maternal serum alpha-fetoprotein levels were abnormal in 8 patients, of whom 6 had fetuses with isolated choroid plexus cysts and normal karyotypes. Two patients had additional fetal anomalies detected on ultrasonography and had abnormal karyotypes, 1 with trisomy 21 and 1 with trisomy 18. There were 51 patients in group 3. Results of the triple screen were normal in 32 patients. The choroid plexus cysts were isolated in 29 of the 32 patients, and all 29 fetuses had normal karyotypes. The other 3 patients with normal triple-screen results had additional fetal anomalies on ultrasonography. One fetus had normal chromosomes, and 2 had trisomy 18. The remaining 19 patients had abnormal triple-screen results. Among them, 16 fetuses had isolated choroid plexus cysts, 13 of whom were normal, 2 had trisomy 18, and 2 had a de novo unbalanced translocation. The remaining 3 fetuses had additional anomalies, and all 3 fetuses had trisomy 18. There were 14 fetuses with significant chromosomal abnormalities. Nine mothers were <35 years old, and 5 were >/=35 years old. CONCLUSIONS: This study shows the following: (1) The triple screen is a useful adjunct to targeted ultrasonography in selecting patients with fetal choroid plexus cysts for amniocentesis. (2) A normal triple-screen result and the absence of additional fetal anomalies on ultrasonography reliably exclude an underlying chromosomal abnormality, and amniocentesis is not indicated. (3) If the triple-screen result is abnormal, additional anomalies are seen on ultrasonography, or the mother is aged >/=35 years, then fetal karyotyping is recommended. (4) Patients who decline fetal karyotyping should have follow-up ultrasonography in 34 weeks' time.     

A characteristic cluster of fetal sonographic markers that are predictive of fetal Turner syndrome in early pregnancy

OBJECTIVE: The purpose of this study was to describe a characteristic cluster of sonographic features of fetuses with Turner syndrome in early pregnancy. STUDY DESIGN: A targeted transvaginal ultrasound examination of all fetal organs was performed for 40123 consecutive pregnant women at 14 to 16 weeks of gestation. Both low- and high-risk pregnancies were included. Fetal karyotyping was performed in 9348 cases. The main indications were major fetal anomalies, advanced maternal age, abnormal biochemical markers, maternal anxiety, and request. RESULTS: Turner syndrome was detected in 13 fetuses (0.03%, 1/3086 early pregnancies). Huge septated cystic hygroma, severe subcutaneous edema, and hydrops were observed in all cases. A short femur was detected in 12 of 13 fetuses. A narrow aortic arch was visualized in all 8 fetuses who were scanned after 1995, when scanning of the aortic arch became mandatory in our institution. Four other fetuses had three or four of the five markers, 2 of the fetuses had trisomy 21, 1 fetus was normal, and one case of missed abortion occurred without a karyotype. CONCLUSION: A reliable diagnosis of Turner syndrome by sonographic means is possible in early pregnancy.     

First-trimester nuchal translucency measurement and echocardiography at 16 to 18 weeks of gestation in prenatal detection for trisomy 18

BACKGROUND: Trisomy 18, the second most common autosomal trisomy, has the highest incidence of congenital heart disease of all chromosomal abnormalities. This study assessed the use of nuchal translucency (NT) measurement and fetal echocardiography at 16 to 18 weeks of gestation in prenatal detection for trisomy 18. METHODS: Screening for chromosomal aneuploidy using fetal NT measurement was performed at 10 to 14 weeks of gestation. Detailed fetal echocardiography was performed at 16 to 18 weeks of gestation immediately before genetic amniocentesis for fetal karyotyping in singleton pregnancies with increased fetal NT thickness. RESULTS: Of the 3151 singleton pregnancies included in our study, 171 cases (5.4%) of increased (> or =3.0 mm) NT were noted. Fetal chromosomal abnormalities were identified in 22 (12.9%) of these pregnancies, including 9 with trisomy 21, 5 with trisomy 18, 4 with 45,X and 4 with unbalanced structural abnormalities. Major defects of the heart and the great arteries were identified in 13 (7.6%) of these pregnancies with increased NT. These included eight pregnancies that also had the diagnosis of chromosomal aneuploidy. Among the 22 fetuses with confirmed aneuploidy, all 5 fetuses with trisomy 18, 1 of the 4 fetuses with 45,X and 2 of the 9 fetuses with trisomy 21 had increased fetal NT thickness associated with abnormal fetal echocardiography findings. CONCLUSIONS: Screening for Down syndrome and cardiac defects using first-trimester fetal NT measurement in combination with fetal echocardiography at 16 to 18 weeks of gestation is a feasible and sensitive procedure for the prenatal detection of trisomy 18.     

9例多胎妊娠合并胎儿染色体异常患者的产前诊断和治疗

目的探讨多胎妊娠合并胎儿染色体异常的产前诊断方法及选择性减胎术定位方法。 方法选取2012年1月至2013年12月就诊于广州医科大学附属第三医院9例多胎妊娠合并胎儿染色体异常患者的临床资料,采用回顾性研究方法对其产前诊断方法、染色体异常情况、选择性减胎术的方法及妊娠结局进行分析。 结果9例患者中3例为三胎妊娠,6例为双胎妊娠。(1)产前诊断：①超声检查：9例患者早孕期行超声检查,均提示存在胎儿颈项透明层(nuchal translucency, NT)增厚,孕中期超声检查提示有6例患者存在胎儿结构异常,包括颈部囊肿、心脏异常、外生殖器畸形、足内翻、全身水肿等;②染色体检查：5例胎儿21-三体综合征,1例Turner综合征,1例染色体微缺失,1例染色体重复,1例双胎染色体异常。(2)治疗及妊娠结局：9例患者中7例患者行选择性减胎术治疗,1例流产,3例早产(新生儿均存在并发症),3例足月分娩(新生儿均未见异常);2例患者拒绝减胎,1例于孕中期自然流产,1例于孕35^＋周剖宫产分娩(1胎儿为21-三体综合征,另一胎儿为健康儿)。 结论多胎妊娠应注重早孕期染色体筛查,确诊宫内胎儿染色体异常的患者可在超声引导下行选择性减胎术治疗。     

Ultrasound screening for fetal major abnormalities at 11-14 weeks

BACKGROUND: This study was planned to evaluate the efficiency of the 11-14 week scan in detecting fetuses with major fetal structural abnormalities. METHODS: Some 1,290 pregnant women were submitted to a routine ultrasound scan between the 11th and 14th week after the detection of the fetal viability. The fetal anatomy was examined transabdominally, and in suspected cases transvaginally. Following the scans, the patients were examined in the second or third trimester of pregnancy. Fetal structural abnormalities classified as major and early onset were noted. Isolated choroid plexus cysts, cardiac defects not requiring treatment, mild ventriculomegaly, and mild renal pelviectasis in second trimester were not included. RESULTS: Twenty-four (1.86%) fetuses with various defects were identified, and 17 of these were diagnosed at the 11-14 week scan. The antenatal ultrasound detection rate of the fetuses with major anomalies was 95%, and 70% were detected in the first-trimester assessment. Four cardiac defects associated with genetic syndromes or requiring operation were included (0.31%) in this series. Two of the fetuses with cardiac defects (50%) had an increased nuchal translucency thickness. In this group, none of the fetuses with karyotype anomalies was born alive. CONCLUSIONS: The first-trimester scan is important in routine antenatal care for early detection of fetal defects, and determination of the fetuses at risk of cardiac anomalies and genetic syndromes.