产前超声筛查胎儿唇裂和(或)腭裂及相关畸形

目的 评估产前超声对胎儿唇裂和(或)腭裂(简称唇腭裂)的检出率,以及合并的相关结构及染色体异常的发生情况. 方法 本研究为回顾性分析,纳入2006年1月至2010年12月在广州市妇女儿童医疗中心进行常规产前检查并分娩的单胎妊娠孕妇31 245例,于妊娠中期常规行胎儿超声筛查,发现唇腭裂的胎儿建议行染色体核型分析.所有活产新生儿及引产儿均进行口腔检查,以确诊唇腭裂,分析产前诊断的准确性. 结果 所有活产新生儿及引产儿共诊断唇腭裂48例,发生率为1.5‰(48/31 245),其中单纯唇裂占33.3％(16/48),唇裂合并腭裂占43.8％(21/48),单纯腭裂占22.9％(11/48).产前超声共发现18例单纯唇裂,其中14例与生后/引产后诊断完全相符,单纯唇裂产前超声诊断准确率为77.8％(14/18);3例分娩后发现新生儿同时合并腭裂,补充诊断为唇裂合并腭裂;1例产前超声诊断唇裂,因羊水过少引产,但引产儿无唇裂.产前超声检出18例唇裂合并腭裂,生后/引产后证实产前超声诊断均正确.2例胎儿产前超声检查正常,但新生儿检查发现单纯唇裂,均为Ⅰ度.产前超声未检出单纯腭裂,但新生儿生后诊断单纯腭裂11例.产前超声检出唇裂及唇裂合并腭裂的敏感性为86.5％(32/37),检出唇腭裂总的敏感性为66.7％(32/48),假阳性率为2.1％(1/48).产前超声诊断36例唇腭裂胎儿中10例(27.8％)合并其他结构畸形,与生后检查结果一致.产前检出18例唇裂合并腭裂胎儿中9例行染色体检查,其中 7例染色体异常.产前超声检出的36例唇腭裂胎儿中仅13例(12例单纯唇裂,1例唇裂合并腭裂)正常分娩,余23例孕妇均选择引产. 结论 产前超声筛查单纯唇裂及唇裂合并腭裂敏感性高,但难以检出单纯腭裂.单纯唇裂合并染色体异常概率低,而一旦合并腭裂,合并染色体异常及其他结构异常的风险增高.     

Prenatal diagnostic rates and postnatal outcomes of fetal orofacial clefts in a Taiwanese population

Objective

To report the incidence, prenatal diagnostic rate, and postnatal outcomes of fetal orofacial cleft at a tertiary referral center in Taiwan.

Methods

The demographic data, maternal and fetal characteristics, and postnatal outcomes for fetuses with cleft lip and/or cleft palate (CL/P) born between January 1998 and December 2008 at Chang Gung Memorial Hospital, Taipei, were reviewed retrospectively, and diagnostic rates were evaluated according to cleft type.

Results

Among 26 499 deliveries, 84 were affected with CL/P. The mean maternal age and gestational age at detection of CL/P were 30.37 years (range 21-41 years) and 24.7 weeks (range 18-33 weeks), respectively. Thirty-one fetuses had associated structural anomalies, 5 of which involved chromosomal aberrations. CL/P was diagnosed prenatally for 74 (88%) fetuses. After consultations, 17 pregnancies (20%) were aborted. The postnatal survival rate was 95.5% (64/67 infants). The type of cleft had a significant influence on correct prenatal diagnosis (P < 0.001).

Conclusion

For fetuses diagnosed prenatally with an orofacial cleft, access to an experienced craniofacial team, well-planned delivery, and pediatric intensive care led to favorable postnatal outcomes after lethal malformations were excluded through detailed sonographic and chromosomal evaluations.     

Three-dimensional ultrasound evaluation of the fetal face

This paper reviews the state of the art of three-dimensional imaging of the fetal face. The technique, clinical applications, advantages and limitations of this new technique are reviewed.     

Prenatal diagnosis of a 1.6-Mb 4p16.3 interstitial microdeletion encompassing FGFRL1 and TACC3 associated with bilateral cleft lip and palate of Wolf-Hirschhorn syndrome facial dysmorphism and short long bones

Objective

We present prenatal diagnosis of a 4p16.3 interstitial microdeletion associated with bilateral cleft lip and palate and short long bones on prenatal ultrasound, and we discuss the genotype–phenotype correlation.

142例胎儿唇腭裂的超声诊断与遗传因素分析

目的探讨胎儿唇腭裂的影像学特征与遗传基础。方法142例病例均接受产前超声系统检查,经过两级医生检查及会诊做出最终诊断。同时收集活产胎儿的胎儿脐带或引产胎儿的大腿肌肉组织,进行全基因组测序(whole genome sequening,WGS),以发现染色体数目异常和拷贝数异常(copy number variations,CNVs)。结果142例孕妇年龄分布为21~41岁,孕周为12~35周。142例胎儿中,男性94例,女性48例,男女比例为1∶0.51。根据唇腭裂的类型,单纯唇裂有84/142例(59.15%),唇裂合并其他系统畸形情况有31/142例(21.83%)。单纯唇腭裂有14/142例(9.86%),唇腭裂合并其他系统畸形情况有13/142例(9.15%)。9.2%(13/142)的胎儿有染色体数目异常,8.4%(12/142)的胎儿检出了致病性CNV。结论对CNVs的检测可以增加胎儿腭裂的遗传检测诊断率,在临床中应重视检测致病性CNVs。     

产前诊断唇腭裂308例回顾性研究

目的:探讨胎儿唇腭裂与染色体异常的关系,为该疾病的临床咨询及预后评估提供依据。方法:回顾性分析我院2008年1月至2016年12月所有超声诊断为唇裂/腭裂/唇腭裂的308例孕妇的产前诊断情况,比较不同类型唇腭裂的超声表型特征及染色体异常的发生率。结果:(1)超声诊断结果显示,在308例唇腭裂胎儿中非综合征型唇腭裂258例(83.77%),综合征型唇腭裂50例(16.23%),其中单纯唇裂40例(12.99%),唇裂合并腭裂266例(86.36%),单纯腭裂2例(0.65%)。(2)同意进行产前诊断137例(44.48%),染色体异常共22例(16.06%),其中23例综合征型唇腭裂中发现染色体异常共12例(52.17%),分别为13-三体8例(66.67%),18-三体2例(16.67%),三倍体2例(16.67%);而在114例非综合征型唇腭裂中发现染色体异常10例(8.77%),分别为18-三体1例,21-三体1例,标记染色体1例,发现基因微缺失微重复等遗传综合征4例(B超检查均无任何软指标及除唇腭裂外的其他结构异常),臂间倒位等染色体多态性3例。染色体基因芯片分析(CMA)检测的染色体异常检出率为16.16%(16/99),染色体核型分析异常检出率为15.79%(6/38)。(3)随访到204例患者,186例患者选择引产,18例患者出生后进行手术干预治疗。结论:唇腭裂胎儿染色体异常发生率较高,建议对所有类型唇腭裂均进行产前诊断;CMA检测可以发现除非整倍体外的拷贝数变异,建议对唇腭裂胎儿优选基因芯片进行产前诊断。     

Prenatal diagnosis of an 8q22.2-q23.3 deletion associated with bilateral cleft lip and palate and intrauterine growth restriction on fetal ultrasound

Objective

We present prenatal diagnosis of an interstitial 8q22.2-q23.3 deletion associated with bilateral cleft lip and palate and intrauterine growth restriction (IUGR) on fetal ultrasound.

Vitamin and homocysteine status of mothers and infants and the risk of nonsyndromic orofacial clefts

OBJECTIVE: This study was undertaken to investigate the involvement of maternal and infant B vitamins and homocysteine as risk factors for orofacial clefting. STUDY DESIGN: Venous blood samples were taken from 96 infants with nonsyndromic orofacial clefts and 88 infants without a congenital malformation and from their mothers at approximately 14 months after the index pregnancy. Red blood cell and serum folate, serum vitamin B(12), whole blood vitamin B(6) as pyridoxal-5'-phosphate (PLP), and plasma homocysteine concentrations were measured. RESULTS: A vitamin B(12) concentration of 185 pmol/L or less and a PLP concentration of 44 nmol/L or less in mothers increased the risk of having a child with an orofacial cleft (odds ratio [OR]=3.1; 95% CI: 1.3-7.4, OR=2.9; 95% CI: 1.2-7.1, respectively). Infants with orofacial clefts had a 15% lower serum folate concentration compared with controls (P=.06). CONCLUSION: A low vitamin B(12) and PLP concentration in mothers increased the risk of orofacial clefts in the offspring. A possible role of the infant's folate status is suggested.     

上推膀胱直肠后再次宫颈环形电切术对保留生育功能的价值

目的:探讨上推膀胱直肠后再次宫颈环形电切术(LEEP)在宫颈疾病治疗中的可行性,评价其对年轻患者保留子宫及生育功能的价值。方法:回顾性分析2010年1月至2014年4月在复旦大学附属妇产科医院就诊,因宫颈LEEP术后切缘阳性或术后随访复发、无法在门诊行常规LEEP而行上推膀胱直肠后再次LEEP的38例患者的临床资料。结果:38例患者均顺利完成了上推膀胱直肠后再次LEEP,术中均未出现膀胱、直肠损伤等并发症。手术时间38±7分钟,术中出血量20±5 ml,住院天数2.7±0.6天;其中1例患者术前病理检查为宫颈高度鳞状上皮内瘤变,术后升级为原位鳞癌合并原位腺癌行全子宫切除术,37例患者(97.4%)成功保留子宫,随访至今1例术后12个月低度鳞状上皮内瘤变行宫颈激光治疗,余均未见宫颈病变复发。12例患者有生育意愿,7例患者已成功妊娠,6例已分娩。结论:上推膀胱直肠后再次LEEP安全可行,可实现未生育妇女及年轻妇女保留子宫及生育能力的意愿。     

Responsiveness of gynecologic tumors to chemotherapeutic agents in the 6-day subrenal capsule assay

Various gynecologic malignancies have been tested in the 6-day subrenal capsule assay, which is an in vivo test of human tumor responsiveness to drug therapy. Fresh surgical explants of ovarian, endometrial, and cervical tumors were implanted as 1-mm³ fragments under the renal capsule of normal mice and tested against a spectrum of clinically active agents. Regardless of the site of origin, human tumors showed variations in growth rate when implanted under the renal capsule that appeared to reflect both the growth potential characteristic of each tumor as well as the heterogeneity of the cell populations comprising each tumor. An average of 60% of tumors showed positive growth and 11% demonstrated no measurable change in size. The response rates of 18 ovarian, 28 endometrial, and 20 cervical carcinomas to clinically active chemotherapeutic agents were determined. A range of responses, in terms of drugs indicated to be active and of the degree of responsiveness to active agents, was obtained with each histologic type. Response rates varied from 6% to tamoxifen in cervical carcinomas to 80% to 5-fluorouracil in ovarian carcinomas. The results of this study support the variability in chemotherapy responsiveness observed clinically with gynecologic tumors and suggest the feasibility of using the subrenal capsule assay as a predictive test.