双胎宫内生长迟缓(IUGR)与不均称的超声诊断

有报道单胎IUGR发病率为5-7%,双胎增至12-47%.近来发现双顶径(BPD)不能精确反映胎头大小,本文作者拟用多参数以提高诊断双胎IUGR及生长不均称的准确性.研究对象为42例双胎妊娠,孕26周前每4-6周、孕26周后2-4周超声扫描各一次直至分娩.孕龄由月经史结合超声测量BPD和股骨长度(FL)确定.测量参数有BPD、头围(HC)、腹围(AC)、FL、头/腹围比率(H/A)、估计胎儿体重(EFW)及有无羊水过少.由BPD、FL、HC和AC绘制的诺模图(Nomograms)用以确定孕周,根据BPD和AC确定EFW.严重羊水过少指羊水囊中两个垂直平面<1cm.超声可疑IUGR指估计胎儿体重低于相应学龄出生体重第10百分位,同样新生儿出生时也以此标准分类.不均称生长指双胎中     

胎儿短肢畸形的基因突变位点筛查

目的 研究胎儿短肢畸形的致病基因突变位点. 方法 2008年8月至2011年8月,妊娠18～24周和(或)30～32周常规胎儿超声检查发现胎儿肢体明显短小者共10例,知情同意后引产终止妊娠,同时抽取羊水或脐带血进行胎儿染色体核型分析.采用聚合酶链反应及直接测序技术检测羊水或脐带血成纤维细胞生长因子受体3(fibroblast growth factor receptor 3,FGFR3)基因的热点突变位点.染色体及FGFR3基因检测异常胎儿的双亲进行FGFR3基因相同部位的测序.1例胎儿(病例3)颅骨骨化差,考虑软骨生成不全,进行FGFR3基因全部外显子及SLC26A2,Trip11基因外显子测序. 结果 10例短肢畸形胎儿,妊娠中、晚期各检出5例,均引产终止妊娠.染色体核型分析发现1例为嵌合体(46,XY/45,XY,-18),余9例正常.10例胎儿全部进行了FGFR3基因热点突变部位的检测,发现4例基因突变.其中1例为罕见的c.1108G＞T(G370C)突变,胎龄21+3周,诊断致死性骨发育不良;另3例胎龄30～32周胎儿为FGFR3 c.1138G＞A(G380R)突变,明确诊断为软骨发育不全.4例基因突变胎儿的双亲均未见相同位点突变,再发风险低,其中3例胎儿母亲目前已再次妊娠分娩,新生儿无异常.病例3胎儿FGFR3基因全部外显子及SLC26A2,Trip11基因检测均未发现致病突变. 结论 染色体及FGFR3基因热点突变部位的检测可为部分短肢畸形胎儿明确致畸原因,为患病家庭提供准确的遗传咨询及再次妊娠的产前诊断;妊娠晚期超声发现胎儿肢体明显短小,应考虑软骨发育不全.     

胎儿胼胝体发育不全与合并其他异常的相关性

目的 探讨胎儿胼胝体发育不全的超声表现,及其合并其它异常及染色体异常的相关性.方法 总结2005年4月至2008年3月在中山大学附属第一医院接受产前胎儿系统超声筛查15550例,发现胎儿胼胝体发育不全共46例,分析胼胝体发育不全合并畸形类型、与染色体异常的相关性及妊娠结局.结果 46例胎儿胼胝体发育不全中,单纯性胼胝体缺失17例(37.0%),合并其他部位畸形29例(63.O%),其中19例(65.5%)为2种及2种以上畸形,以合并中枢神经系统异常(18例,62.1%)为主.23例(50.0%)接受胎儿染色体检查,3例(13.0%)合并染色体异常病例均合并畸形,1例13-三体综合征,l例18.三体综合征.1例罗伯逊易位[45,XX,der(14:22)(q1O:q1O)].分娩足月儿6例,最大者已2岁8个月,3例幼儿运动及认知能力低于同龄儿童.结论 胎儿胼胝体发育不全是特征性超声改变.了解胼胝体发育的规律,及时识别发育异常的特征性改变,可提高产前诊断率,胼胝体发育不全以合并中枢神经系统病变最为常见,合并畸形时染色体异常的可能性较大;胼胝体发育不全幼儿早期即可出现精神、运动发育迟缓.     

胎儿软骨发育低下的尸体解剖病理分析

目的:探讨胎儿软骨发育低下(HCH)的病理学特征、主要研究方法及诊断思路。方法:对一例因四肢短小而引产的胎儿进行尸体解剖,对其主要四肢骨骼及颅骨进行直接测量,在光镜下观察这些骨骼及主要脏器,并对骨骼、气管软骨、大中小动脉分别进行AB-PAS(阿尔辛蓝-过碘酸-无色品红法)及Masson三色染色,染色结果与无异常及畸形的相同胎龄胎儿的上述组织进行形态学比较。结果:患儿的畸形主要表现为四肢长骨及喉、气管软骨的发育异常。四肢主要长骨长度明显低于正常值,且股骨骨性标志不突出。镜下长骨生长板存在,但形态发育欠佳,气管软骨细胞多呈不活跃或凋亡状态,软骨基质及胶原较正常偏少。结论:软骨发育低下属于一种畸形程度较轻的骨软骨发育异常,主要影响软骨的发育成熟及软骨化骨,通过临床表现、影像学检测及病理观察可以确诊。     

产前诊断胎儿腹腔内胎粪性包块与染色体核型异常一例

孕妇27岁,孕3产0。末次月经2004年10月26日,2005年3月15日停经20周B超检查:胎儿双顶径(BPD)45mm,股骨长(FL)30mm,腹腔内见一液性暗区深16mm,胎儿相当于孕19 2周。2005年4月19日停经24 6周行彩色超声检查:BPD63mm,FL43mm,羊水指数163mm。胎儿颅内见左侧侧脑室前角宽8.1mm,后角宽     

母体宫腔结构异常合并晚孕期胎头形状异常2例产前咨询

目的探讨母体宫腔结构异常合并晚孕期胎头形状异常的产前咨询方法。方法回顾性分析2016—2017年深圳市人民医院收治的母体宫腔结构异常合并仅晚孕期超声诊断胎儿小头畸形的产前诊断咨询病例,并随访胎儿出生后的生长发育情况。结果共有2例纳入研究,孕期超声筛查均未见胎儿结构异常。其中1例有较粗的宫腔粘连带,多次中孕期超声提示臀位,下肢活动受限,羊水细胞核型未见异常,晚孕期超声提示胎儿头围低于均值2个标准差(-2SD),头形狭长,上嘴唇外翻,单侧足内翻。另1例孕妇完全纵隔子宫,胎儿臀位,晚孕期超声发现头围-4SD,但颅底距离颅顶88 mm,头皮局部水肿合并羊水偏少;磁共振检查胎儿脑沟回发育未见异常。2例孕妇分别在36周和31+4周早产。新生儿出生时头形均明显异常,1例合并单侧足内翻。2例婴儿出生后半年及1年复查,婴儿神经发育正常,头型以及四肢外形均正常。结论母体宫腔结构有明显异常且仅晚孕期出现胎头形状异常的病例预后较好,但胎位异常及早产风险增加。产前遗传咨询医师应结合胎儿生长、孕妇宫腔结构、胎儿影像学动态变化以及磁共振等给予合理的遗传咨询意见。     

超声诊断Potter综合征2例

例1 孕妇28岁,住院号1001.孕2产1,本次妊娠末次月经1989年7月30日,孕10周时超声检查子宫大小与孕月相符,孕23周时超声检查:两个最大羊水暗区均为1cm×1.5cm,胎心胎动正常,胎儿双顶径、腹横径及股骨径的测量值均正常;胎儿形态学检查中发现双侧肾区被浓密的皮质样组织所占据,疑为肾上腺组织.检查中未见胎儿膀胱.诊断为羊水中度减少及双侧肾脏发育不全.次日行前列腺素引产,胎儿胎盘排出.尸检报告:Potter 综合征合并面部畸形,胎肺发育不良合并成熟迟缓.胎盘无病理改变.例2.孕妇30岁,住院号3043.孕8产3,本次妊娠末次月经1989年7月13目.孕14周时超声检查子     

羊水染色体多态性与妊娠结局的关系分析

目的:探讨羊水染色体多态性与妊娠结局的关系,为产前诊断染色体多态性的临床处置提供理论依据。方法:对3960例高危孕妇行羊膜腔穿刺术,抽取羊水经培养后制备染色体核型并进行分析,诊断为染色体多态性的胎儿,其父母接受外周血染色体检查,并对1岁龄婴儿期生长发育情况进行跟踪随访。结果:3960例羊水染色体核型共检出多态性核型116例,其中114例多态性核型来自于父母其中一方,仅1例9qh-和1例22ps+为新生变异。随访发现110例胎儿孕中晚期及出生后1岁以内,未见明显生长发育异常;1例inv(9)于孕29+2周不明原因胎死宫内;1例新生9qh-胎儿,孕晚期B超发现胎儿头围、腹围较实际孕周小2周,出生8个月后随访身高、体重及运动协调能力发育较同龄儿稍低;另一例新生变异22ps+,孕期及出生后随访未见明显异常;4例失访,妊娠结局未知。结论:具有明确遗传来源的染色体多态性变异可参照其父辈的身体智力发育情况予以判断其妊娠结局,新发生的胎儿多态性变异对其妊娠结局及今后的生长发育情况可能造成一定的负面影响,但其影响的具体机制及对应关系还有待进一步研究。     

产前超声诊断胎儿小眼畸形的价值

目的:探讨产前超声诊断对胎儿小眼畸形的价值。方法:回顾分析2013年4月30日至2019年4月30日四川大学华西第二医院超声科产前超声检查提示小眼畸形的胎儿超声图像及临床资料。结果:产前超声诊断小眼畸形胎儿12例,孕妇平均年龄27.92±4.50岁(高龄1例);平均孕周26.33±3.50周。12例胎儿中单侧小眼畸形8例,双侧小眼畸形4例;单纯小眼畸形3例,合并其他部位发育畸形9例(颜面部结构异常5例;颅内结构异常6例;胸部发育异常2例;心脏发育异常3例;消化系统发育异常2例;多囊性肾发育不良1例;腹腔积液1例;羊水过多4例);重度小眼畸形8例。12例胎儿中7例行羊水穿刺或引产后胎儿染色体检查,其中4例无明显异常,3例胎儿染色体异常(13-三体综合征2例;21-三体综合征1例)。2例孕妇及配偶行自身染色体检查,其中1例母亲染色体为46,XX,inv(9)(p12q13),父亲染色体未见明显异常(其胎儿染色体未见明显异常);另1例双方染色体均未见明显异常(其胎儿染色体结果为21-三体综合征)。所有产前超声诊断胎儿小眼畸形的孕妇均选择引产,引产后证实与产前诊断结果一致,产前超声诊断小眼畸形...     

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。     

Management of pregnancy in osteogenesis imperfecta: new perspectives.

Osteogenesis imperfecta during pregnancy presents increased risk to mother and fetus. In addition to the well-known skeletal changes, other recently recognized metabolic abnormalities also may lead to maternal and fetal problems during labor and delivery. A discussion of risk factors and their managment is presented. The importance of considering the possibility of fetal osteogenesis imperfecta is stressed, and cesarean section is presented as the method of choice for delivery. Important genetic factors including the lack of correlation between the severity of involvement of parent and offspring and the use of pyrophosphate analyses are discussed. An illustrative case is presented.     

Analysis of the human fetal skeleton and organs with xeroradiography

We have used xeroradiography to study normal and abnormal fetuses including some with anencephaly, hydrocephalus, spina bifida, osteogenesis imperfecta (type IV), Jeune syndrome, radial aplasia, thanatophoric dysplasia, and Pena-Shokeir syndrome. Xeroradiography images the lines of ossification and epiphyses in great detail, shows ossification, and reveals abnormalities that alter bone modeling as seen in Jeune syndrome, osteogenesis imperfecta (type IV), and thanatophoric dysplasia. This technique can be used successfully to examine soft tissues and organs. It can also be used in combination with contrast materials to identify the lateral ventricles, the cardiovascular, gastrointestinal, urinary, and respiratory systems, and the cavities (pleural and peritoneal) of the fetal body.     

Fetal biometry: does patient ethnicity matter?

Abstract

Objective: To determine if fetal biometry varies according to race.

Methods: We performed a retrospective chart review of prenatal ultrasounds completed in our Perinatal Center from January 2009 to December 2010. Singleton pregnancies 17 to 22.9 weeks were included. Pregnancies complicated by IUGR, fetal anomalies, chronic maternal diseases, or dated by an ultrasound after the first trimester were excluded. Biparietal diameter (BPD), head circumference (HC), abdominal circumference (AC), femur length (FL), and humerus length (HL) were compared between African Americans (AA), Caucasians, and Hispanics using ANOVA and Student t-test.

Results: Included were 1327 AA, 147 Caucasian, and 86 Hispanic subjects. The AC was significantly smaller in AA than Caucasians (p?=?0.008). There was no difference between AA and Caucasians in BPD, HC, FL, or HL. There were no differences between Hispanics and either Caucasians or AA in any of the biometries evaluated.

Conclusions: A single fetal growth curve is not applicable across all ethnicities. AA fetuses have smaller AC then Caucasian fetuses from 17 to 22.9 weeks, which is typically the period when anatomic surveys are performed. Because AC contributes heavily to estimated fetal weight calculations, physicians may be over estimating growth restriction in AA patients. Ethnicity-specific fetal growth curves are indicated to limit unnecessary follow up.     

Prenatal counselling and diagnosis in progressively deforming osteogenesis imperfecta: a case of autosomal dominant transmission.

A 21-year-old woman with progressively deforming or type III osteogenesis imperfecta (OI) presented for prenatal counselling and diagnosis at 10 weeks' gestation. Family history was non-contributory. At 14.8 weeks' gestation, ultrasonographic examination revealed fetal skeletal hypomineralization, easily compressible fetal cranium, and thickened long bones, indicating that the fetus was also affected. Confirmation of the prenatal diagnosis of OI type III was made following a Caesarean section birth of a male infant with multiple skeletal deformities and blue sclerae implying, in this case, autosomal dominant inheritance.     

Mathematical models to predict long bone lengths by transvaginal scan at 11-16 weeks' gestation

OBJECTIVE: To propose a new mathematical model to estimate the length of fetal long bones in early pregnancy that can be used in the routine clinical setting. METHODS: In a group of 400 singleton normal fetuses, referred for transvaginal ultrasound examination between 11 and 16 weeks' gestation prior to genetic amniocentesis, a regression analysis was performed to evaluate the relationship between femur length (FLl) (mm) and biparietal diameter (BPD) (mm) and gestational age (GA) (days), as well as between humerus length (HL) (mm) and BPD (mm) and GA (days). The confidence intervals (CIs) of the predicted values for different values of BPD and for different gestational periods and CIs for the regression coefficients are stated as the mean +/- SD of standardized residuals. The accuracy of our best models obtained were evaluated at each gestational week between 11 and 16 with a 10% error cut-off limit. RESULTS: The best relationships between FL and HL versus BPD and GA are: expected FL = -16.92108 + 0.4569402 BPD +0.171617 GA (R(2) = 0.86) and expected HL = -16.28531 + 0.4283019 BPD + 0.1696017 GA (R(2) = 0.88), respectively. When a cut-off limit of 10% in estimating fetal long bones was utilized, the mathematical models revealed a good accuracy particularly at 13-14 weeks' gestation, a period when transvaginal biometric and morphologic examination is advisable and the highest percentage of scans are performed. DISCUSSION: Our proposed two linear models had a very good ability to estimate FL and HL and, due to the simplicity of the calculations, would be particularly useful in the routine clinical setting.     

Midtrimester diagnosis of severe deforming osteogenesis imperfecta with autosomal dominant inheritance

Sonographic examination of a fetus whose father had severe deforming osteogenesis imperfecta (OI) was performed. The father had multiple congenital rib and extremity fractures. Subsequent fracture and deformity had suggested an autosomal recessive OI syndrome. However, fetal sonography at 18 weeks gestational age showed foreshortening of long bones in both legs and a reduced thoracic circumference, recapitulating, in part, the father's phenotype. This third reported case of early fetal diagnosis of autosomal dominant OI suggests that the fetal sonographic phenotype reflects that of the affected parent. Implications of this case for the application of fetal sonography in dominant OI syndromes are discussed.     

Prenatal diagnosis of Bruck syndrome

Bruck syndrome is an autosomal recessive connective tissue disorder combining features of osteogenesis imperfecta and arthrogryposis multiplex congenita. There are only few reports describing this rare syndrome of multiple fractures and joint contractures that is thought to be a subtype of osteogenesis imperfecta. We report the first case of prenatal diagnosis of this syndrome in a fetus at 23 weeks of gestation. Ultrasound findings included brachycephaly, retrognathia marked shortening and bowing of both femurs, bilateral fixed flexion of the elbows, bilateral fixed extension of the wrists and partially fixed flexion of the knees. The parents opted for termination of pregnancy. Macroscopic and radiologic examination of the aborted fetus confirmed the prenatal diagnosis, whereas morphological studies of the bone tissue found no hard evidence of osteogenesis imperfecta, probably due to the early stage of pregnancy and the heterogeneity of the syndrome itself.     

Osteogenesis imperfecta type II: fetal magnetic resonance imaging findings

We describe the prenatal magnetic resonance imaging (MRI) findings in a 25-week-old fetus with proven osteogenesis imperfecta type II. Fetal MRI findings are correlated with prenatal ultrasonography, conventional x-ray fetography and postpartal findings. Fetal MRI proves to be superior to conventional fetography in the evaluation of the skeletal findings. The high soft tissue resolution, the large field of view and the multiplanar imaging make it possible to study the non-ossified fetal skeleton in detail. Compared to prenatal ultrasonography, fetal MRI gives important additional information about the expected lung functionality by estimating fetal lung volume and signal intensity and rules out possible additional abnormalities of major fetal organs. These parameters may serve as valuable, additional prognostic markers in the prenatal diagnostic work-up.     

Sonographic estimates of fetal weight in the intrauterine growth retardation population

The efficacy of different methods of fetal weight estimation using sonographic measurements of the abdominal circumference (AC), biparietal diameter (BPD), and femur length (FL), either alone or in combination, was evaluated in the fetus with intrauterine growth retardation (IUGR). Eighty-one patients, referred with a clinical suspicion of IUGR, were studied. All patients had sonographic measurements within 7 days of delivery. Four regression equations were used to estimate fetal weight: AC (Hadlock), BPD-AC (Shepard), AC-FL (Hadlock), BPD-AC-FL (Hadlock). For the total study group, as well as for the infants who were found to be IUGR at birth, 75% of the estimates of fetal weight using the BPD-AC-FL method were within 10% of the actual birthweight. Nearly comparable results were obtained using the AC-FL method. In the fetus with IUGR, estimates of fetal weight that incorporated the FL correlated best with the actual birthweight.     

孕晚期营养素摄入与B超下胎儿各生长指标的关系

目的:探讨妊娠晚期孕妇不同营养素摄入量与B超下胎儿各部位测量值的关系。方法:对799例无妊娠合并症及并发症的健康孕妇进行前瞻性营养调查,在妊娠32、34、36周调查3天。用食物日志形式记录3天摄入食物的种类及重量。将食物摄入量转换成营养素摄入量。于妊娠28周及38周左右行两次B超检查,测量胎儿双顶径、头围、腹围、股骨及肱骨长度,并用两次测量之差值反映胎儿孕晚期的生长情况。采用多元线性回归分析孕晚期营养与胎儿生长的关系。结果:孕晚期脂肪供能比与胎儿腹围、头围和股骨增长有关,脂肪供能比每增加1%,胎儿腹围增加2.27mm(P=0.023),胎儿头围增加3.86mm(P=0.01),胎儿股骨长度增加1.35mm(P=0.04)。钙的摄入量与胎儿股骨增长有关;锌、维生素B1、、B2及维生素E与胎儿双顶径关系密切。结论:脂肪供能比与胎儿多个生长指标密切相关,是影响胎儿出生体重的重要因素。不同的营养素对B超测量的胎儿生长指标的影响不完全相同的。