中晚孕期18-三体综合征胎儿的超声特征

目的:研究中晚孕期18-三体综合征胎儿超声影像的变化。方法:回顾分析经羊膜腔穿刺、脐血管穿刺胎儿染色体分析确诊为18-三体的胎儿24例的临床资料和超声影像特征。结果:24例18-三体胎儿中,22例超声影像有变化,占全部病例的91.7%;最常见的超声变化是心脏畸形,共15例,占62.5%;其它常见的异常有脉络膜囊肿、脐带异常、肢体异常、宫内生长迟缓、脑室扩大、小脑延髓池扩大等;还可见颅骨变形、颜面裂、颈项皮肤增厚、消化道闭锁、腹壁缺损、膈疝、肾盂轻度积水、羊水过多等。结论:超过90%的18-三体胎儿中晚孕期可发现超声影像改变,中晚孕期胎儿超声检查是产前筛查18-三体胎儿的有效手段。     

18-三体综合征胎儿超声声像特征分析

目的分析18-三体综合征胎儿超声声像特征,以期早期诊断与处理。方法回顾分析经染色体核型分析确诊的18-三体儿12例超声检查的资料。结果全部18-三体儿存在二个或以上异常超声声像表现。其中,胎儿生长受限、羊水过多表现率最高,各为58.3%;其次是心脏畸形,50.0%;再其次是脉络丛囊肿、单脐动脉、脑发育不全、上肢发育异常。在〈28周的胎儿中,超声异常的表现率最高的是心脏畸形、脉络丛囊肿,各为66.7%,其次是胎儿生长受限、羊水过多,各为50.0%。胎儿生长受限主要表现为股骨长度发育落后于正常。结论超声检查是产前筛查18-三体儿的有效手段。     

Sensitivity of prenatal ultrasound for detection of trisomy 18

Objectives: To evaluate the sensitivity of prenatal ultrasound (US) for trisomy (T18) diagnosis and describe US findings in a large tertiary care institution in the USA.

Materials and methods: This was a retrospective cohort of all T18 cases diagnosed at our institution from October 2004 to October 2014 based on prenatal or postnatal genetic diagnostic testing. We included all women with a fetus affected by T18 who had a comprehensive US by a maternal–fetal medicine specialist performed at our institution. US findings were reviewed, classified by organ system, and categorized as an anomaly or soft marker. Chi-square or t-test was used for statistical analysis.

Results: We included 128 cases of T18 with confirmed cytogenetic analysis ?110 (86%) of which were diagnosed prenatally or suspected by cell-free DNA and confirmed postnatally, and 18 of which underwent neonatal blood sampling alone. One hundred and twenty-one (95%) had at least one abnormal US finding. Anomalies were more frequently identified on US at ≥20 weeks as compared with <20 weeks (93% versus 76%; p?=?.004). The mean number of findings detected per fetus was 5.1?±?3.0. Fetuses diagnosed by postnatal sampling alone had a similar number of US exams performed and number of abnormal findings compared to those diagnosed prenatally.

Conclusion: Ninety-five percent of fetuses with T18 had at least one abnormal US finding. This sensitivity of is higher than reported in most prior studies, but is not 100%, and should be considered when counseling women regarding prenatal diagnosis of T18.

Rationale: Historical detection rates for abnormal sonographic findings in trisomy 18 fetuses range from 70% to 100%. These studies are limited by small sample sizes. This is a contemporary study of ultrasound findings in a large group of women with confirmed trisomy 18 by prenatal or postnatal genetic diagnosis. We provide expansive detail on soft markers and anomalies broken down by organ-system and gestational age.     

Prenatal diagnosis of trisomy 18 as true mosaicism by three-dimensional ultrasonography: a case report

Trisomy of chromosome 18 is the second most common autosomal trisomy, occurring in approximately 1:7,000 live births. Its prenatal diagnosis through abnormal findings in ultrasound with later analysis of fetal karyotype is important for a definition of the prognosis and counseling of the patients. We describe a case of trisomy 18 as true mosaicism diagnosed through amniocentesis in the second trimester of pregnancy, associated to the presence of multiple fetal phenotypic alterations. We focus on the importance of fetal morphological study through three-dimensional ultrasonography, which was highly important for clearly showing the fetus’ structural alterations, helping parents to understand better the pathology and allowing them to reason about the continuity of the gestation.     

Sonographic features of hemivertebra at 13 weeks' gestation

Hemivertebra is a rare congenital spinal disorder where only one side of the vertebral body develops, leading to deformation of the spine, such as scoliosis or kyphosis. Previous reports suggest that the diagnosis may be based on antenatal sonographic examination after 14 weeks. We present the sonographic features of a fetus with solitary hemivertebra at 13 weeks' gestation confirmed by postmortem babygram, magnetic resonance imaging (MRI) and pathological examination. It shows that the condition may manifest in the first trimester of pregnancy.     

Screening for trisomy 18 using traditional combined screening vs. ultrasound-based protocol in tertiary center environment

Objectives: To compare the screening performances of combined screening test risk algorithm for trisomy 18 (T18) using various cutoffs with a multiparameter ultrasound-based method. To compare the general and maternal age (MA)-based screening performances for T18 by means of combined screening and an ultrasound-based method.

Methods: This was a prospective, multicenter study based on a mixed-risk non-selected population of women referred to referral centers for a first-trimester screening. Each subject was offered a choice between either a traditional combined screening (CSG arm) or an ultrasound-based screening (USG arm). General and MA-based screening performances were measured.

Results: The study population comprised 10 820 pregnancies as follows: 5132 in the CSG arm, including 28 cases of T18, and 5688 in the USG arm, including 29 cases of T18. In the CSG arm, the detection rate (DR) for T18 at a false-positive rate (FPR) of 3% was 86%, whereas the DR was 100% for the USG arm. MA influenced the T18 screening performance in the CSG arm and reduced the DR in MA ranges <26 years and 31–35 years. This influence was not observed in the USG arm.

Conclusions: Only, a multiparameter ultrasound-based screening method may be considered an effective alternative to combined screening for T18 screening. The technique exhibits high and stable DRs irrespective of MA.     

Mosaic trisomy 18 at amniocentesis associated with a favorable fetal outcome in a pregnancy

ObjectiveWe present prenatal diagnosis of mosaic trisomy 18 by amniocentesis associated with a favorable fetal outcome in a pregnancy.Case reportA 42-year-old, gravida 4, para 2, woman underwent amniocentesis at 18 weeks of gestation because advanced maternal age. Amniocentesis revealed a karyotype of 47,XX,+18[6]/46,XX[17]. Simultaneous array comparative genomic hybridization (aCGH) on uncultured amniocytes showed the result of 45% mosaicism for trisomy 18. At 25 weeks of gestation, the woman underwent repeat amniocentesis which revealed a karyotype of 47,XX,+18[10]/46,XX[24]. Simultaneous aCGH on uncultured amniocytes showed the result of arr 18p11.32q23 (148,963–78,012,829) × 2.3 [GRCh (hg19)] with a log₂ ratio of 0.2–0.25 compatible with 30–38% mosaicism for trisomy 18. The parental karyotypes were normal. Prenatal ultrasound was unremarkable. Interphase fluorescence in situ hybridization (FISH) on uncultured amniocytes showed 27% (27/100 cells) mosaicism for trisomy 18. Quantitative fluorescent polymerase chain reaction (QF-PCR) on uncultured amniocytes excluded uniparental disomy (UPD) 18. Non-invasive prenatal testing (NIPT) analysis at 34 weeks of gestation revealed a significant gene dosage increase of chromosome 18 (29.95; normal control: ?3.0–3.0). At 39 weeks of gestation, a 2840-g phenotypically normal baby was delivered. The cord blood had a karyotype of 47,XX,+18[8]/46,XX[32]. The placenta was trisomy 18 of maternal origin. The umbilical cord had a karyotype of 47,XX,+18[2]/46,XX[38]. At age 1½ months, the peripheral blood had a karyotype of 47,XX,+18[5]/46,XX[35], and FISH analysis on buccal mucosal cells revealed 2% (2/102 cells) mosaicism for trisomy 18. When follow-up at age seven months, the neonate was phenotypically normal, and the peripheral blood had a karyotype of 47,XX,+18[1]/46,XX[39].ConclusionsMosaic trisomy 18 at amniocentesis without abnormal fetal ultrasound can be associated with a favorable outcome, and the abnormal trisomy 18 cell line may decrease progressively after birth.     

Second trimester choroid plexus cysts and trisomy 18

Objectives: In this study, the aims were to reveal the incidence of isolated choroid plexus cyst in our population, and to discuss the accuracy of distinguishing either an isolated or non-isolated choroid plexus cyst. Methods: The study population was consisted of 10 594 pregnant women. The patients with choroid plexus cysts were classified into two groups: isolated and non-isolated. Detailed ultrasonographic examination and genetic counseling were performed and triple screening test was ordered. The incidence, sensitivity, specificity, false-positive rate and likelihood ratio of cases with isolated choroid plexus cyst for trisomy 18 were determined. Results: Choroid plexus cysts were identified in 109 patients (109/10 594; 1.02%). In 102 patients isolated choroid plexus cysts, and in seven patients additional fetal anomalies supporting trisomy 18 were detected. Trisomy 18 was detected in four patients, and one of them had isolated choroid plexus cyst. The likelihood ratio in cases of isolated choroid plexus cysts for trisomy 18 was 9.51 (95% confidence interval, 0.2-41). Conclusions: According to the study the individual risk for trisomy 18 in isolated choroid plexus cyst should be calculated by using the likelihood ratio. These data allows the physician to express the individual risk of trisomy 18 and permits more accurate genetic counseling.     

A rare occurrence of trisomy 18 and trisomy 21 in a dizygotic twin pregnancy

Objective Case report of a rare combination of a trisomy 18 and 21 in a dizygotic twin pregnancy in a woman with a history of recurrent miscarriage, a neonatal death, no living offspring and Graves disease. Methods Case report and literature search. Results Only one other report in the literature of a combined trisomy 18 and 21 twin pregnancy was found. Conclusion The combination of a trisomy 18 and 21 in a dizygotic twin pregnancy is very rare. Despite the high frequency and clinical importance of aneuploidy, very little is known about the factors that may modulate meiotic non-disjunction.     

超声在18-三体综合征产前诊断中的意义

目的 探讨超声在18-三体综合征产前诊断中的意义。方法 对我院1年来经羊水细胞或脐血细胞染色体核型分析确诊为18-三体综合征的5例胎儿超声影像资料进行回顾性分析，评估超声在产前对18-三体综合征胎儿检出的临床价值。结果 5例18-三体综合征患儿至少存在1种以上的超声异常声像。结论 妊娠期超声可检测到18-三体胎儿在形态结构上发生的异常，结合羊水或脐血染色体核型诊断，对于提高18-三体综合征胎儿的产前诊断率，降低严重染色体病缺陷患儿的出生率具有重要意义。     

少见类型异位妊娠超声声像学特征及诊断

随着经阴道超声检查的普及及技术的提高,常见类型异位妊娠(如输卵管异位妊娠)的早期检出率得到极大提高。然而近年来少见部位异位妊娠(如有剖宫产史的瘢痕妊娠等)的发病率逐渐上升,因其少见,超声声像变化大,成为导致生育期女性失血抢救及死亡的主要原因。经阴道超声是诊断异位妊娠的首选方法。文章总结少见类型异位妊娠的超声声像学特征及超声诊断要点,旨在提高对少见部位异位妊娠的重视,提高早期检出率,以利于临床制定合理治疗方案,减少异位妊娠破裂大出血的风险。     

A case of trisomy 18 diagnosed before birth

In polyhydramnios, fetography together with amniotic fluid cell cultures and karyotyping are helpful in diagnosing serious chromosomal defects, such as trisomy 18.     

Early resolution of increased nuchal translucency in a fetus with trisomy 18

The normal timing for first-trimester nuchal translucency screening of aneuploidies is 10 to 14 weeks' gestation. We describe a fetus with trisomy 18 that presented at 11 weeks with increased nuchal thickness. Reevaluation at 12 and 13 weeks showed early return to normal of the increased nuchal measurement.     

Sonographic measurement of the fetal iliac angle in trisomy 21, 18 and 13

OBJECTIVE: To determine whether iliac wing angle measurement in second trimester fetuses is a useful sonographic marker for the detection of trisomy 21, 18 and 13. METHODS: During the period between September 1998 and September 2001, 406 fetal iliac angle measurements were performed in women in the second trimester of their pregnancies. The iliac angle measurements in fetuses with trisomy 21 (n = 25), trisomy 18 (n = 10) and trisomy 13 (n = 5) were compared with iliac angle measurement in fetuses with normal karyotypes (n = 333). RESULTS: The mean iliac wing angle in the fetuses with trisomy 21 was 92.67 and 79.35 degrees and 74 degrees in fetuses with trisomy 18 and 13 (the mean iliac wing angle in the healthy fetuses was 70.09 degrees ). CONCLUSION: The proven larger iliac wing angle in neonates with Down's syndrome can be demonstrated sonographically during the pregnancy, especially during the second trimester, and may be useful in prenatal screening of trisomy 21. The sonographic measurement of the fetal iliac angle cannot be used as a marker for trisomy 18 and 13. We have shown that fetuses with trisomy 18 and 13, on average, have iliac angles only a few degrees larger than healthy fetuses.     

9例18三体综合征胎儿的产前诊断

目的探讨利用孕妇血清筛查和胎儿超声筛查进行18三体综合征胎儿产前诊断的有效性。方法对36例首诊主诉为产前筛查胎儿18三体高危、92例首诊主诉为胎儿超声有异常发现的孕18~32周孕妇共128例，进行羊膜腔穿刺羊水细胞培养、或脐血管穿刺脐血细胞培养染色体分析。结果128例胎儿核型中，9例为18三体综合征，2例为其它染色体异常，染色体异常发现率为8．59％（11／128）。首诊主诉为18三体高危发现18三体4例，异常发现率11．11％（4／36）；首诊主诉胎儿超声异常发现18三体5例，其它染色体异常2例，异常发现率7．61％，其中2例18三体合并有筛查高危和超声异常。结论孕妇血清生化指标筛查结合胎儿超声检查是产前检出18三体胎儿的有效筛查手段。     

产前超声指标评分法对胎儿18三体综合征的诊断价值

目的 探讨产前超声指标评分法对胎儿18三体综合征的诊断价值.方法 采用前瞻性方法对2004年1月至2009年12月在中山大学附属第一医院行产前超声筛查孕妇中,发现胎儿结构或软指标异常者行胎儿染色体核型检查,根据胎儿染色体核型分析结果,分为18三体组和非18三体组.对两组胎儿任一异常超声指标进行单因素logistic回归分析,分别计算各超声指标的阳性似然比(+LR).+ LR≥200的超声指标赋值3分,100≤+LR ＜200的超声指标赋值2分,+LR＜100的超声指标赋值1分.根据受试者工作特性( ROC)曲线,确定最佳诊断界值.结果 (1)符合入选标准孕妇共26 545例,产前超声检查可疑胎儿畸形或有超声软指标异常并接受胎儿染色体检查者共4044例,其中21三体93例,18三体59例,13三体19例,其他类型染色体异常134例,正常核型3739例.22 501例胎儿产前超声检查无异常,3985例胎儿出生后随访其结局也无异常,共计26 486例胎儿为非18三体组,59例18三体胎儿为18三体组.(2)18三体组59例胎儿均有2种及以上超声提示的结构异常,其中最常见为肢体异常(85％,50/59),其次是心脏畸形(83％,49/59)和中枢神经系统异常(75％,44/59).肢体异常中以重叠指最常见,心脏畸形中室间隔缺损最多见,中枢神经系统畸形中最常见为“草莓头”型.(3)经logistic回归分析,所有超声异常指标中可进入回归方程的是脉络膜囊肿、“草莓头”型、后颅窝池增宽、前脑无裂畸形、耳低置、室间隔缺损、左心发育不良综合征等16项,按照此16项超声指标的+LR值分别得出不同分值.(4)18三体组和非18三体组产前超声评分1分值分别为2％ (1/59)和2.549％(675/26 486),4分值分别为9％( 5/59)和0.215％ (57/26486),9分值分别为10％( 6/59)和0.004％( 1/26 486),10～16分值分别为32％ (19/59)和0.(5)以不同总评分值为超声诊断18三体征的截断值,计算出各分值的敏感度和特异度,ROC曲线下面积为0.999.以总评分4分为最佳诊断值,诊断18三体征的敏感度为0.966,特异度为0.997.结论 超声指标评分法对18三体综合征具有较好的诊断价值,以4分作为诊断18三体综合征截断值其诊断效价最高.     

Sonographic features of anorectal atresia at 12 weeks

We present the sonographic features of a fetus with anal atresia at 12 weeks of gestation. Follow-up ultrasound examination at 17 week revealed apparently normal bowel. Spontaneous miscarriage occurred at 18 weeks and postmortem examination showed anorectal atresia and arthrogryposis multiplex. It seems that dilatation of the bowel in the early pregnancy is a possible marker for anorectal atresia, and the abnormality may be overlooked if a mid-trimester scan alone is performed.     

Maternal serum IGF-I, IGFBP-1 and IGFBP-3 at 11-13 weeks in trisomy 21 and trisomy 18 pregnancies

Objective

To investigate the possible value of maternal serum concentration of insulin-like growth factor-I (IGF-I), IGF binding protein-1 (IGFBP-1) and IGFBP-3 in first-trimester screening for fetal aneuploidies.

Study design

Maternal serum concentrations of IGF-I, IGFBP-1 and IGFBP-3 at 11-13 weeks of gestation were measured and compared in 30 trisomy 21, 30 trisomy 18 and 120 euploid pregnancies.

Results

The median multiple of the normal median (MoM) values of maternal serum IGF-I, IGFBP-1 and IGFBP-3 in trisomy 21, trisomy 18 and euploid pregnancies were not significantly different (IGF-I: 1.10, 1.14 and 1.0 MoM, respectively; IGFBP-1: 1.10, 1.01 and 1.0 MoM; IGFBP-3: 0.90, 1.16 and 0.98 MoM).

Conclusion

Measurement of maternal serum IGF-I, IGFBP-1 and IGFBP-3 at 11-13 weeks of gestation is unlikely to be useful in screening for trisomies 21 and 18.     

Obstetric practice patterns in pregnancies complicated by fetal trisomy 13 or 18

Purpose: Describe practice patterns among obstetrician/gynecologists (OB/GYNs) when caring for women with pregnancy complicated by fetal trisomy 13 (T13) or 18 (T18) and compare these between maternal–fetal medicine (MFM) and non-MFM providers.

Materials and methods: We conducted an electronic survey using the American College of Obstetricians and Gynecologists database. Using simple statistics, we describe demographics and practice patterns among respondents and compare those of MFM practitioners with non-MFM providers.

Results: The survey was sent to 300 individuals, 161 individuals verified email receipt, and 105 had complete response and were included. The median age was 58 (IQR 53,62). Sixty percent were female, 69% were private practice, and 38% were MFM. All providers were more likely to offer than to recommend antenatal and intrapartum interventions. MFMs were more likely to offer growth ultrasounds and neonatal hospice consults (53% vs. 29%, p?=?.02; 88% vs. 60%, p?p?Conclusion: Many providers offer antepartum and intrapartum interventions for pregnancies complicated by T13/18. We recommend that providers elicit each woman’s goals for pregnancies complicated by T13/18 and tailor management options to meet these goals.