胎儿颈项透明层增厚和静脉导管血流频谱异常与胎儿染色体异常的关系

目的探讨胎儿颈项透明层(nuchal translucency, NT)超声检查在早孕期胎儿筛查中的应用价值。 方法收集104例于广州市妇女儿童医疗中心诊断NT增厚的孕妇的染色体核型分析资料，回顾性分析胎儿NT增厚、静脉导管血流频谱异常与胎儿染色体异常的关系。 结果(1)9980例孕妇中，NT异常增厚的胎儿共104例，占1.0%，颈项透明层厚度为(3.7±1.2)mm；(2)104例NT异常增厚的胎儿中，有28例胎儿染色体核型异常，包括染色体数目异常22例，结构异常6例，其中前3位为21-三体综合征、18-三体综合征和47，XXX；(3)随着NT厚度的增加，染色体异常的检出率相应增加；(4)NT增厚及静脉导管血流频谱正常预测染色体异常的阳性预测值是20.93%，NT增厚及静脉导管血流频谱异常的阳性预测值是55.56%，其差异具有统计学意义( χ²＝7.07，P<0.01)。 结论在早孕期进行胎儿NT超声检查，NT增厚及静脉导管血流频谱异常联合筛查更能有效筛查出染色体核型异常的高危胎儿。     

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。     

孕11～14周胎儿脐膨出与染色体核型异常的关系

目的:探讨孕11~14周超声检查发现胎儿脐膨出与胎儿染色体核型异常的关系。方法:回顾性分析2010年1月至2012年12月在四川大学华西第二医院就诊的单胎孕妇于11~14孕周超声筛查发现胎儿脐膨出相关资料,分析孤立性胎儿脐膨出及胎儿脐膨出合并其他异常的患者染色体核型异常情况及妊娠结局。结果:超声检查发现并获得相关资料31例。孤立性胎儿脐膨出5例,合并胎儿其他异常26例(其中合并胎儿NT增厚16例,合并胎儿其他结构异常10例)。胎儿脐膨出合并NT增厚组染色体异常发生率为87.5%(14/16),活产1例,宫内死亡3例,余终止妊娠;胎儿脐膨出合并其他结构异常组染色体异常发生率为80.0%(8/10),终止妊娠7例,宫内死亡3例;孤立性脐膨出组4例染色体均正常,1例未查,其中活产3例,终止妊娠2例。胎儿脐膨出合并NT增厚及合并其他结构异常的染色体异常发生率高于孤立性脐膨出(P=0.023)。结论:孕11~14周超声筛查发现胎儿脐膨出合并NT增厚或其他结构异常时,染色体异常发生风险高,能否作为独立筛查染色体异常指标有待进一步研究。     

孕妇超声下胎儿颈项透明层筛查的临床分析

目的分析孕妇妊娠11~14周胎儿颈项透明层(nuchal translucency,NT)超声筛查的临床意义。方法收集2012年1月至2012年12月在北京妇产医院妊娠11~14周进行超声NT筛查的孕妇共10 982例,以NT≥2.5mm为临界值。结果①10 982例孕妇中≥2.5mm者173例,随访到结局者165例,染色体异常者12例,21-三体5例,18-三体5例,13-三体1例,45XO 1例;胎儿外观畸形而染色体正常者9例;②对临床资料判断胎儿染色体正常者153例(通过孕期产检及分娩后新生儿查体随访,并非有染色体核型分析者)及染色体异常者12例的NT厚度进行完全随机两样本均数的比较,得出结论 (t<0.05),差异有统计学意义;③染色体正常者中对有无胎儿外观畸形进行NT厚度完全随机两样本均数的比较,结果 (P<0.05),差异有统计学意义。结论对妊娠11~14周孕妇进行NT超声筛查有很重要意义,可以尽早筛出胎儿染色体异常及外观畸形胎儿,降低大孕周引产风险。     

15230例孕中期唐氏筛查产前诊断的临床应用

目的:探讨孕中期唐氏筛查对检出胎儿染色体异常的预测价值。方法:2008年1月至2009年10月,采用时间荧光免疫分辨法对我院15230例孕中期(15～20+6周)妇女进行血清标志物甲胎蛋白(AFP)、游离雌三醇(uE3)、绒毛膜促性腺激素(β-HCG)3项指标进行检测,对于筛查结果为高风险的孕妇于孕20～24周行羊膜腔穿刺进行胎儿羊水细胞染色体核型分析,并对唐氏筛查情况进行效果评价。结果:984例孕妇唐氏筛查为高风险,高风险率为6.46%,其中唐氏综合征阳性孕妇736例,18-三体阳性78例,神经管缺陷阳性169例。有773例高风险孕妇接受羊水穿刺,发现胎儿染色体异常29例,异常检出率为3.75%,其中唐氏综合征11例,18-三体1例,69,XXX1例。唐氏筛查的敏感性和特异性分别为92.86%和95.25%。结论:孕中期唐氏筛查是预测异常胎儿和不良妊娠结局的有效手段之一,羊水细胞核型分析在产前诊断中具有重要的实用价值。     

孕早期胎儿颈部透明带增厚在产前诊断中价值与现状分析

目的探讨胎儿颈部透明带(NT)增厚对产前诊断的价值以及目前存在的问题。方法 2008年1月至2010年12月间在北京市海淀区妇幼保健院产前筛查门诊常规产检的单胎孕妇,在孕11～13+6周测量胎儿颈部透明带厚度,NT≥3mm视为异常,收集异常病例115例,随访至妊娠结束。结果在115例NT增厚的病例中,正常足月分娩54例,自然流产2例,医疗性中期引产59例。在54例正常分娩者中,NT值3.0～4.0mm 43例(79.63%),4.1～5.0mm 9例(16.67%),5.1～6.0mm 1例(1.85%),>6.0mm 1例(1.85%)。在115例NT增厚的病例中,单纯NT增厚者94例,产前诊断35例,产前诊断率37.23%(其中直接产前诊断30例,另有行血清学唐氏筛查高危而后行产前诊断者5例);同时合并其他器官异常者21例,其中心脏畸形6例(室间隔缺损2例,单心房2例,完全性心内膜垫缺损2例),器官积液6例,腹裂3例,单脐动脉2例,多发畸形4例。其中7例行产前诊断,产前诊断率33.33%,其他14例直接中期引产终止妊娠。42例产前诊断的病例中染色体正常25例(59.52%),染色体异常17例(40.48%),其中21-三体综合征11例,18-三体综合征4例,Turner综合征2例,21-三体综合征异常占64.71%。结论 NT增厚对于胎儿染色体疾病有重要的诊断价值,NT增厚提示胎儿畸形、流产、死胎的风险增加。NT的测量、后续诊断问题需要进一步规范,提高孕妇的依从性和产前诊断率。设立固定的NT切割值对于临床诊断和咨询是有意义的。     

13042例孕妇早期产前筛查的研究分析

目的:评价孕早期唐氏综合征血清学筛查在产前诊断中的作用,降低染色体异常胎儿出生率。方法:取孕11~13+6周孕妇13042例,时间分辨荧光免疫术检测13042例单胎孕妇外周血妊娠相关蛋白-A(PAPP-A)和游离人绒毛膜促性腺激素β亚基(β-HCG)含量,综合超声测量胎儿颈项透明膜厚度(NT)及孕妇年龄、体质量和孕周,Life-Cycle4.0软件计算胎儿患21三体和18三体的风险率。高风险者进一步行绒毛或羊水细胞染色体核型分析。结果:13042例病例中,唐筛阳性373例(3.00%)。早筛21三体阳性PAPPA平均MoM值为0.98,游离β-HCG平均MoM值为2.218,NT平均MoM值2.56;18三体阳性PAPPA平均MoM值为0.647,游离β-HCG平均MoM值1.847,NT平均MoM值3.07。早期唐筛阳性孕妇中,行绒毛活检或羊膜腔穿刺术染色体核型分析248例(占66.5%),发现染色体异常58例(占23.4%),其中21三体30例,18三体7例,13三体3例,性染色体异常8例,嵌合体7例,多倍体3例。≥35岁和35岁患者早期筛查的真阳性率分别为14.8%和34.9%。结论:孕早期血清学筛查能有效筛查出染色体异常胎儿,降低了出生缺陷发病率,对于年龄35岁的孕妇应作为常规筛查。     

中孕期超声筛查胎儿染色体异常软指标的临床价值

目的探讨中孕期超声筛查发现胎儿染色体异常软指标与胎儿染色体异常之间的关系,对超声软指标的临床价值作一评估。方法2004年2月至2006年11月在复旦大学附属妇产科医院产前筛查孕妇8810例,共筛查8883例胎儿(其中73例为双胎),中孕期详细超声筛查有无结构异常及染色体异常软指标,根据孕妇年龄、血清学筛查结果及超声检查综合评定,决定是否行羊膜腔穿刺染色体检查。染色体异常软指标主要包括:颈项软组织增厚、肱骨股骨偏短、轻度肾盂扩张、心室强光点、肠管强回声等。结果8883例胎儿中,发现染色体异常软指标598例,占6.73%。超声软指标诊断21-三体综合征敏感度为69.23%,特异度为93.36%,假阳性率6.74%。结论中孕期超声染色体异常软指标,对于筛查胎儿染色体异常具有重要的临床价值。     

妊娠早期超声多指标筛查胎儿染色体异常的临床价值

目的 探讨妊娠早期超声多指标筛查胎儿染色体异常的临床价值.方法 对2008年9月至2010年9月在暨南大学附属第一医院产科就诊的2789例妊娠早期(11～13+6周)单胎初产孕妇超声测量胎儿颈项透明层(nuchal translucency,NT)厚度,记录胎心率(fetal heart rate,FHR)、面部角度(facial angle,FA)、静脉导管(ductus venosus,DV)、三尖瓣反流(tricuspid reverse,TR)、胎儿鼻骨(nasal bone,NB)等超声指标,观察胎儿结构.全部超声指标检查结果输入Astraia风险筛查软件计算染色体异常风险值(＞1/300为高风险截断值),根据知情同意原则对高风险者取绒毛或羊水进行染色体核型产前诊断.所有研究对象随访至分娩后6个月.率的比较用x2检验或Fisher精确概率法.结果 (1) 2789例孕妇筛查出21三体高风险107例,其中96例接受侵入性产前诊断,诊断染色体异常16例,染色体异常发生率为0.6％(16/2789),其中6例21-三体.2789例孕妇中,超声筛查21-三体高风险孕妇4例,最终确诊21-三体6例,假阳性率为3.6％ (101/2783).(2) NT≥2.5 mm者196例,21-三体高风险66例,均经绒毛穿刺诊断,发现染色体异常16例;有创性检查率2.3％(66/2789).(3)≥35岁孕妇占筛查总数的6.7％(186/2789),其中检出21三体高风险32例,占21-三体高风险总数的29.9％ (32/107);诊断21-三体2例,21-三体检出率为1.1％(2/186);年龄＜35岁者21-三体检出率为0.2％(4/2597);年龄≥35岁和年龄＜35岁人群中胎儿21-三体检出率差异无统计学意义(P=0.055).(4)筛查过程诊断胎儿结构异常13例,其中5例染色体核型异常.结论 妊娠早期超声多指标筛查将明显提高染色体异常胎儿检出率并降低假阳性和假阴性率,大大降低有创性检查率.尤其对高龄孕妇的染色体异常风险评估更有明显的指导意义.妊娠早期超声筛查不仅可以有效检出核型异常,同时可以诊断严重的胎儿结构异常.     

血清学筛查与胎儿超声检查在18、13三体综合征产前诊断中的应用

目的:探讨利用孕妇血清学筛查和胎儿超声检查进行18、13三体综合征胎儿产前诊断的有效性。方法:①对78例(A组)产前血清学筛查18、13三体高风险孕妇,拒绝进行产前诊断的孕妇进行随访观察。②对56例(B组)首诊主诉胎儿超声检查有结构异常的孕妇、134例(C组)首诊主诉为产前血清学筛查胎儿18三体高风险的孕妇,于孕18～32周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:A组的18三体筛查高风险孕妇有2例出现B超检查结构异常而放弃妊娠,1例产后检查新生儿先天性心脏病。B组发现18三体3例,13三体3例,其他染色体异常7例,异常发现率23.21%(13/56);其中2例18三体合并有血清学筛查高风险。C组发现胎儿异常4例,其中2例确诊为18三体,异常发现率2.99%(4/134)。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、13三体综合征胎儿的有效检查方法。     

Three-dimensional ultrasound for nuchal translucency thickness measurements: comparison of transabdominal and transvaginal ultrasound

OBJECTIVE: We compared nuchal translucency (NT) thickness measurements using two-dimensional (2D) transabdominal, three-dimensional (3D) transabdominal, and 3D transvaginal ultrasound to determine levels of agreement. METHODS: One hundred one pregnant women with a median gestational age of 12.6 weeks (range 11-14 weeks) were included in this study. First-trimester NT thickness measurements with 2D transabdominal ultrasound were performed on all women and were used as the gold standard. They also underwent 3D transabdominal and 3D transvaginal NT examinations. Both methods were compared with 2D transabdominal ultrasound measurements with respect to fetal nuchal translucency thickness, and levels of agreement were calculated by correlation coefficient. RESULTS: There were no significantly different results between 2D transabdominal and 3D ultrasound. Furthermore, 3D transabdominal and 3D transvaginal measurements did not differ significantly. When 3-mm NT thickness was used as a cut-off level, however, there was a statistically significant overestimation of NT measurements by 3D transabdominal and 3D transvaginal ultrasound (median 1.4 mm versus 1.6 mm and 1.6 mm; P =.016 and P =.015 respectively) in the patient group with 2D transabdominal NT thickness less than 3 mm. In the patient group with 2D transabdominal NT thickness of 3 mm or more, there was a statistically significant underestimation of NT measurements by 3D transabdominal ultrasound (median 5.0 mm versus 4.6 mm; P =.002). CONCLUSION: Two-dimensional transabdominal and 3D transabdominal and 3D transvaginal NT measurements differed minimally but significantly when compared with each other.     

Cystic hygromas, nuchal edema, and nuchal translucency at 11-14 weeks of gestation

OBJECTIVE: To estimate the incidence of septations in fetuses with increased nuchal translucency (NT) thickness, and to investigate the relationship between the length and thickness of the translucency and whether the length or septations provide useful information concerning the fetal karyotype in addition to that provided by the NT thickness alone. METHODS: We examined 386 fetuses with NT thickness equal to or above the 95th percentile for crown-rump length (CRL). A transverse suboccipitobregmatic section of the fetal head was taken to determine whether the sonolucency was septated, and a midsagittal longitudinal section was used to measure NT thickness, CRL, the longitudinal distance between the occiput and the lower end of the sonolucency toward the fetal sacrum (NT length) and the length between the occiput and the sacral tip (spinal length). Logistic regression analysis was used to investigate the effect on abnormal karyotype of CRL, NT thickness, and percentage of NT length to spinal length. RESULTS: Septations within the translucency were observed in all fetuses. The fetal karyotype was abnormal in 83 (21.5%) pregnancies, and multiple regression showed that the only significant independent predictor of abnormal karyotype was fetal NT thickness. CONCLUSION: Septations within the translucency can be seen in all fetuses, and therefore this feature cannot be used to distinguish between increased NT and cystic hygromas. The length of the translucency is related to its thickness and does not give useful information concerning the fetal karyotype in addition to that provided by the NT thickness alone. LEVEL OF EVIDENCE: II-2.     

The influence of image magnification in first-trimester screening for Down syndrome by fetal nuchal translucency in Asians

OBJECTIVE: The aim of this prospective study was to evaluate the impact of image magnification in the measurements of crown-rump length (CRL) and nuchal translucency (NT) thickness for first-trimester Down syndrome screening in Asians. METHODS: Ultrasound measurements of NT and CRL were performed in 561 consecutive Taiwanese unaffected fetuses and 11 cases of Down syndrome fetuses between 12 and 14 weeks of gestation. All sonographic images were measured by one qualified examiner to prospectively undergo first-trimester NT screening for Down syndrome. Fetal CRL and NT thickness were measured on three separated images including the original image, regular image, and the magnified image. RESULTS: A significant mean difference (0.59 +/- 4.24 mm) of CRL was found between measurements on the original and regular image (p < 0.001). There was a significant mean difference of NT thickness measurements between the regular and magnified image (0.12 +/- 0.25 mm, p < 0.001). Seven out of the 11 cases (63.6%) of Down syndrome with NT thickness > or =2.5 mm was measured on three separated images. A significantly reduced incidence of NT thickness > or =2.5 mm on the magnified image was noted than those of the original and regular image measurements in unaffected cases (p < 0.001). Either using the assessing method by the 95th centile cutoff value of NT thickness or combined risk, our results could achieve observed detection rate of 63.6% measured on three separated images. CONCLUSIONS: Our data indicate that the image magnification could reduce the false-positive rate by using a fixed cutoff value of NT thickness, but would have no influence on the results when using the assessing method either by the 95th centile cutoff value of NT thickness or the combined risk. In order to place the caliper more accurately, a magnified image should be recommended as a standard image in the measurements of the NT thickness.     

Nuchal translucency and cardiac abnormalities in euploid singleton pregnancies

Abstract

Objective: To investigate different cut-off levels of nuchal translucency (NT) to predict abnormal cardiac findings (ACF) in second trimester ultrasound examination and confirmed postnatal congenital heart defects (CHD) in euploid pregnancies.

Methods: A retrospective analysis was performed on singleton pregnancies examined in our ultrasound units from 2006 to 2011. Fetuses with an abnormal karyotype were excluded. Different cut-off levels of NT thickness were analyzed to evaluate its performance to detect the ACF on second trimester ultrasound (2nd US) examination and also the CHD detected in neonatal follow-up evaluation of ACF cases.

Results: Of the 12?840 cases, a total number of 8541 euploid pregnancies were included in the study. Thirty-three had ACFs detected by 2nd US (3.86/1000). The mean NT thickness was found to be higher in fetuses with ACFs (p?<?0.0001). Of 33 ACFs, 17 (52%, 1.99/1000) had major CHDs in neonatal follow-up. The area under the ROC curves for NT thickness to predict ACFs and CHDs were 0.67 and 0.65, respectively.

Conclusions: Higher NT thickness is associated with higher risk of ACF. NT is a weak predictor of ACF and major CHD; however, fetuses with an unexplained increase in NT measurement should be referred for further cardiac investigations.     

Correlation of nuchal translucency and thyroxine at 11–13 weeks of gestation

Abstract

Objective: Nuchal translucency (NT) thickness is one of the major screening markers during the first trimester that could be influenced by several factors. Here, we investigated the association between NT thickness and thyroid related hormones.

Methods: NT thickness was measured with transabdominal ultrasound in 643 pregnant women between 11 and 13 weeks of gestation. Maternal thyroxine (T4), free thyroxine (fT4) and thyroid-stimulating hormone (TSH) were evaluated. Bivariate correlations were assessed and thyroid profile was subcategorized with regard to the calculated reference ranges.

Results: An inverse relation was found between serum levels of maternal T4 with NT thickness (r?=??0.128, p?=?0.001) and CRL (r?=??0.168, p?<?0.001). TSH and hCG were also found to be correlated (Spearman’s correlation coefficient?=??0.092, p?=?0.019). Prevalence of maternal hypothyroidism and subclinical hypothyroidism were 1.1% and 3.7%, respectively.

Conclusion: Thyroid function tests are found to independently influence NT measurements in the first trimester. Assessment of hormones such as thyroxine could optimize the interpretation of screening tests for pathological conditions during pregnancy.     

Nuchal translucency in dichorionic twins conceived after assisted reproduction

OBJECTIVES: As opposed to biochemical markers of Down syndrome, nuchal translucency (NT) was once thought to be a more reliable screening marker for high order multiple pregnancies and pregnancies conceived after assisted conception. Recent data suggested that NT in singleton fetuses from assisted reproduction technology (ART) was thicker than those from singleton pregnancies. The present study compared the thickness of NT in dichorionic twins from natural conception and assisted reproduction. METHODS: A retrospective analysis for comparison of NT thickness on 3319 spontaneous singletons, 19 pairs of spontaneous twins and 27 pairs of assisted reproduction twins was performed. RESULTS: The median NT multiple of median (MoM) of spontaneous singletons was 1.00. For twins, the median NT MoM for pregnancies after assisted reproduction and natural conception were 1.02 and 1.07 respectively. There was no statistical difference in the NT thickness among the three pregnancy groups. CONCLUSION: Contrary to the observed increase in NT in singleton pregnancies from assisted reproduction, the NT in dichorionic twins was comparable to the spontaneous ones. The mode of conception appears to impose differential influence on singletons and twins. Copyright (c) 2006 John Wiley & Sons, Ltd.     

Ductus venosus blood flow evaluation at 11-14 weeks in the anticipation of twin-twin transfusion syndrome in monochorionic twin pregnancies

Twin-twin transfusion syndrome (TTTS) is a serious complication, occurring in about 15% of monochorionic twin pregnancies. Strong evidence suggests that increased fetal nuchal translucency thickness (NT) in one of the monochorionic twins is highly predictive of TTTS. One of the most plausible mechanisms for increased NT is heart failure, which can be indirectly manifested by abnormal blood flow in the ductus venosus. We present 20 cases of monochorionic twin pregnancies in which both NT thickness and ductus venosus blood flow evaluation were performed at 11-14 weeks. Whenever both fetuses showed discrepant NT, and abnormal ductal flow was found in the fetus with increased NT, TTTS eventually developed. In none of the twins displaying similar NT measurements, and in those with discrepant NT but normal flow in the ductus venosus of both fetuses, was the progression to TTTS observed. In the two cases that developed TTTS, fetoscopic laser coagulation of the vascular anastomoses was successfully carried out at 18 weeks, and normalization of the venous return was recorded. Increased NT and abnormal flow in the ductus venosus in monochorionic twins may be early manifestations of hemodynamic imbalance between donor and recipient The combined evaluation of both parameters in monochorionic twin pregnancies could be an effective screening method.     

Changing trends in pregnancy outcome among HIV-infected women between 1985 and 1997 in two southern French university hospitals

OBJECTIVE: To determine the utility of the first-trimester fetal nuchal translucency (NT) thickness in the prediction of fetal cardiac malformations. DESIGN: Retrospective study. SETTING: Department of Obstetrics and Gynecology and Medical Genetics, University of Szeged. METHODS: The pre- and postnatal course and outcome, and the relationship between the first-trimester fetal NT thickness and fetal congenital heart defects (CHDs) in 4309 pregnancies ended up with birth or therapeutic abortion between January 1998 and June 2000 were registered. Prenatal care included first- and second-trimester fetal sonography at weeks 10-13 and 18-20, respectively. RESULTS: 4251 births and 58 first- and second-trimester therapeutic abortions due to lethal congenital malformations or chromosomal abnormalities were recorded. Altogether 209 (4.9%) congenital malformations were detected, 39 (18.7%) of which were heart defects with normal karyotype. At birth, 151 congenital malformations were diagnosed, 34 of them were known prenatally. The prevalence of CHDs was 9 per 1000 pregnancies. The measurement of fetal NT thickness was available in 35 of the 39 fetuses with heart defects: it was > or = 3 mm in 18 (51.4%) and <3 mm in 17 (48.6%). A sensitivity of 51.4% was found at a cutoff of 3mm. CONCLUSIONS: An increased NT thickness in chromosomally normal fetuses was found to be highly associated with CHDs and identified in more than half of the affected cases. Furthermore, an increased NT of > or = 3 mm can be regarded a selection criterion for early second-trimester targeted fetal echocardiography and for increased fetal and neonatal surveillance.     

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.