早孕期颈项透明层增厚伴或不伴颈部淋巴水囊瘤胎儿的产前诊断结果及妊娠结局分析

目的比较早孕期颈项透明层(nuchal translucency,NT)≥5 mm伴或不伴颈部淋巴水囊瘤(cystic hygroma,CH)胎儿的产前诊断结果及妊娠结局。方法回顾性分析2017年7月至2020年12月在广州市妇女儿童医疗中心就诊的NT≥5 mm且接受介入性产前诊断的131例胎儿资料,按照囊肿内是否存在分隔将所有病例分为NT增厚不伴CH组(囊肿内未发现分隔,74例)和NT增厚伴CH组(囊肿内可见分隔,57例)。比较2组胎儿遗传学检测结果、胎儿超声结构畸形发生率以及出生后健康存活率。采用χ²检验、Fisher精确概率法或非参数检验进行统计学分析。结果NT增厚不伴CH组与NT增厚伴CH组胎儿遗传学检测结果异常发生率[67.6%(50/74)与61.4%(35/57),χ²=0.54,P=0.464]、超声结构异常发生率[21.6%(16/74)与33.3%(19/57),χ²=2.26,P=0.133]、健康存活率(12/14与3/8,Fisher精确概率法,P=0.052)比较,差异均无统计学意义。结论NT增厚伴或不伴CH胎儿,虽然两者疾病谱不同,但合并染色体异常及结构畸形发生率均高,出生后都有一定的健康存活率。     

不同严重程度胎儿生长受限孕妇羊水染色体检测结果及妊娠结局分析

目的:分析不同严重程度胎儿生长受限(FGR)孕妇产前诊断结果及妊娠结局,为指导 FGR 临床咨询及管理提供依据。 方法:选取 2020 年 1 月至 2021 年 6 月在四川省妇幼保健院就诊的 FGR 孕妇 141 例进行回顾性分析,根据不同胎儿预测体质量(EFW)分为轻型 FGR 组(同孕龄平均体质量 第 3 百分位数≤EFW < 同孕龄平均体质量第 10 百分位数,84 例)和严重 FGR 组(EFW < 同孕龄平 均体质量第 3 百分位数,57 例),均行羊水穿刺产前诊断,对两组染色体结果及妊娠结局进行比较分 析。 结果:141 例 FGR 发现染色体异常 19 例(13. 5% ),严重 FGR 组染色体异常率 19. 3% (11 / 57) 高于轻型 FGR 组 9. 5% (8 / 84),但差异无统计学意义(P = 0. 095)。 110 例同时进行了核型分析和 染色体微阵列分析(CMA),CMA 染色体异常检出率 13. 6% 高于核型分析异常检出率 4. 5% ,差异有 统计学意义(P = 0. 006)。 染色体非整倍体异常占染色体异常 21. 05% (4 / 19),其中 1 例 18-三体、2 例 47,XXY;严重 FGR 组染色体异常中发现 2 例涉及 4p16. 3 缺失,与 Wolf-Hirschhorn 综合征有关。 严重 FGR 组终止妊娠率、入住新生儿重症监护室率较轻型 FGR 组高,足月分娩率和新生儿出生体 质量较轻型 FGR 组低,差异有统计学意义(P < 0. 05);两组死胎率、早产率比较差异无统计学意义 (P > 0. 05)。 结论:FGR 胎儿中 CMA 染色体异常检出率高于核型分析,建议 FGR 孕妇行侵入性产 前诊断时采取核型分析联合 CMA。 严重 FGR 发生不良妊娠结局风险增加,孕期和围产期应加强监 护,减少不良妊娠结局发生。     

妊娠中晚期超声软指标与胎儿染色体异常及其围生结局

目的:探讨妊娠中晚期超声软指标与胎儿染色体异常的关系及其对妊娠结局的影响。方法:回顾性分析2012年4月至2015年12月于四川省人民医院就诊的妊娠中晚期(孕18~32周)超声检查发现软指标异常但未合并明确结构异常1141例患者的临床资料,分析其产前诊断、胎儿染色体情况及围生结局。结果:1检测出24例胎儿染色体异常,其中10例为唐氏筛查(唐筛)低风险,5例为临界风险,3例为高风险;9例无创基因检测高风险。18例引产,6例正常分娩,新生儿正常。2单项超声软指标异常者胎儿染色体异常检出率为1.81%(20/1107),两项超声软指标异常及以上者胎儿染色体异常检出率为11.76%(4/34);两组比较差异有统计学意义(P0.05)。3不同部位的超声软指标异常胎儿染色体异常检出率:鼻骨缺失或发育不良为31.58%(6/19),颈后皮肤皱褶(NF)增厚为25.00%(1/4),脉络丛囊肿为5.38%(7/130),侧脑室增宽为4.27%(5/117)。结论:妊娠中晚期超声软指标两项及以上异常和鼻骨缺失、发育不良及NF增厚的异常胎儿有较高的染色体异常检出率,建议可行介入性产前诊断;单项超声软指标及其他部位异常的可结合唐筛和无创基因检测,以获得良好围生儿结局。     

13号染色体长臂拷贝数异常的产前遗传学分析及妊娠结局随访

目的:探索13号染色体长臂拷贝数异常胎儿的产前临床表型及遗传学分析。方法:回顾分析2017年7月1日至2021年7月1日在福建省泉州市妇幼保健院产前诊断中心行羊水/脐血染色体核型及单核苷酸多态性微阵列(SNP-array)检测的产前诊断病例,对遗传学诊断确认13号染色体长臂拷贝数异常的胎儿,进一步行遗传学分析、家系分析及随访妊娠结局。结果:共检出8例13号染色体长臂拷贝数异常胎儿,其中3例为致病性变异,均因亲代染色体结构异常导致;5例为临床意义不明变异(VOUS),其中3例遗传自父亲。除例5胎儿产前超声提示胎儿全身水肿、永存左上腔静脉伴多发超声软指标异常外,其余7例胎儿产前超声未见明显结构异常。结论:联合染色体核型分析及SNP-array检测技术可明确13号染色体长臂拷贝数异常的性质及范围,结合亲代验证情况及超声等辅助检查结果,有利于妊娠结局的选择。     

染色体平衡易位携带者3例的妊娠结局

染色体平衡易位携带者（chromosomebalancetranslocationcarrier）是发生自然流产、生产智力低下儿及畸形儿的主要原风之一。现对女性染色体平衡易位携带者3例妊娠结局分析如下。1病例简介例129y、婚后3a自然流产3次，均在妊娠50～60d，于本次流产刮宫后3个m来我院遗传咨询门诊，查体未发现异常。细胞遗传学检查：丈夫染色体正常，患者染色体核型为45，XX，t（1421）（14qter→cen→21qter）。1993年2月第4次妊娠，孕期除间断休息外，未用保胎药，孕4个m拒绝行羊膜腔穿刺，于同年11月妊娠39W，因均小骨盆而剖宫产一男婴，体重2900g，表型…     

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。     

妊娠中期母血清中瘦素浓度与胎儿染色体异常关系的研究

为了解妊娠中期母血清中瘦素(Leptin)浓度与胎儿染色体异常的关系及意义,对患21三体和18三体综合征妊娠妇女瘦素水平进行测定,并与正常妊娠组对照。实验组24份血清标本分别为18例21三体和6例18三体综合征的妊娠中期妇女;时照组为183例正常妊娠中期妇女血     

妊娠早期胎儿染色体异常的超声检查

新生儿出生缺陷主要包括染色体异常和结构异常。染色体异常中最常见的是21-三体畸形（Down’s综合征），18-三体畸形，13-三体畸形和45-XO畸形（Turner综合征），染色体异常胎儿的围产死亡率高，出生后的新生儿可以伴有脏器结构异常、智力障碍、生育能力降低等。国内外学者对胎儿缺陷的产前诊断已经进行了多方面的研究，有些已在临床上广泛应用。在这些筛查方法中脐血、羊水中胎儿脱落细胞及早期妊娠绒毛细胞的培养进行染色体核型分析已经被证明是染色体异常诊断的肯定方法，但这些检查均为有创性操作，具有一定的流产风险性。无创性而有效的产前筛查方法是国内外学者们探索的方向。目前，对胎儿染色体异常的筛查主要是在妊娠14周以后通过联合血清学筛查，并结合超声检查进行综合评价。随着医疗技术水平的不断提高，     

598例妊娠中晚期胎儿超声异常与染色体异常的关系

目的:探讨妊娠中、晚期胎儿超声异常时染色体异常情况,以指导脐血穿刺的选择。方法:对我院胎儿超声异常的598例妊娠中、晚期孕妇取脐血进行染色体检查,分析胎儿超声结构异常及超声软指标异常的异常染色体检出率及异常染色体分类。结果:598例孕妇中,染色体异常61例,检出率10.20%,其中三体儿42例,占染色体异常的68.85%;超声结构异常胎儿染色体异常检出率明显高于超声软指标异常胎儿(P0.05);2项、3项及以上超声软指标异常染色体异常检出率明显高于单项软指标异常胎儿(P0.05);鼻骨缺失染色体异常检出率41.67%,单脐动脉染色体异常检出率12.24%;超声异常合并高龄孕妇组染色体异常检出率明显高于合并低孕龄组(P0.05);超声异常合并羊水过多组异常染色体检出率明显高于合并羊水正常组(P0.05)。结论:当有胎儿超声结构异常、超声软指标鼻骨缺失、两项及以上软指标异常、超声软指标异常合并高龄或羊水过多的情况时,染色体异常发生率明显增加,建议行脐血管穿刺染色体检查。     

妊娠期糖耐量异常影响妊娠结局分析

妊娠期糖耐量异常(GIGT)是指在妊娠期行糖耐量试验(Oral glucose tolerancete,OGTT)结果4项中有任何1项超过或达到诊断标准的为糖耐量异常。不同地区发病率差异较大,估计中国发病率在5%左右[1]。近年来,随着妊娠期糖尿病     

Abnormal second trimester screening for fetal chromosomal abnormalities as a predictor of adverse pregnancy outcome

Second-trimester maternal serum markers (triple test) is common used to estimate of the fetal risk of genetic abnormalities and open neural tube defects. Positive results of the triple test concomitant with the normal fetus karyotype pattern can also predict the adverse pregnancy outcome. Many authors have been indicated such false positive results of the triple test in the cases of the uterine myomas, PIH, IUGR, and IUD. OBJECTIVE: The purpose of this study was to determine the association between abnormal second trimester Down syndrome screening markers and adverse pregnancy outcome. MATERIAL AND METHODS: A total of 775 pregnant women underwent maternal serum screening. Pregnancy complications were studied in the groups of pregnancies with structurally and chromosomally normal fetuses--with: elevated AFP > 1,89MoM, elevated beta-hCG > 1,69MoM or low beta-hCG < 0,48MoM. RESULTS: Increased maternal serum AFP > 1,89MoM were found to be significantly associated with IUGR, PIH and placental pathology. Increased beta-hCG > 1,69MoM were significantly associated with PIH and IUGR. Finally decreased beta-hCG < 0,48MoM were found to be significantly associated with IUGR, PIH and IUD. CONCLUSION: Triple test can be used not only for the detection of fetal chromosomal and NTD abnormalities but also for the detection of high-risk pregnancies.     

A case of fetal cystic hygroma. Clinical and echographic study

In reference to a case of fetal cystic hygroma discovered on ultrasonogram, after 16 weeks of amenorrhea, the authors remind of the need for a karyotype; this is absolutely necessary in the therapeutic decision. Most of the time, it is related to a Turner's syndrome. In case of abnormal karyotype, a therapeutic interruption of pregnancy may be proposed. If the karyotype is normal, the ultrasonogram should be rechecked since hygroma regression has been described. If these images persist or become worse, it is related, most often, to a Noonan's syndrome and interruption of pregnancy may also be indicated.     

Spontaneous resolution of fetal nuchal cystic hygroma

Complete resolution of the hygroma occurred in two fetuses with the mid-trimester ultrasound diagnosis of a nuchal cystic hygroma. Cytogenetic studies showed a normal 46,XX karyotype in one fetus, and a 47,XX, +18 in the other. Complete regression of cystic hygroma has been reported in fetuses with normal chromosomes, as well as in those with trisomy 21, and with Turner's syndrome. The incidence of spontaneous in utero resolution of fetal nuchal cystic hygroma is unknown. The natural history of cystic hygroma in utero cannot be correlated with the chromosome complement. An antenatal karyotype determination should be offered to any patient whose fetus has cystic hygroma, even to those with spontaneous resolution.     

Case report of fetal axillo-thoraco-abdominal cystic hygroma

Cystic hygroma (moist tumor) was first described in 1828 by Redenbacher. The cyst usually results owing to an absence or an inefficient connection between the lymphatic and venous systems. Of this type of malformation 75% cases are localized in the nuchal region; however, only 20% are found in the axilla while 5% of these hygromas are in other locations. Prognosis depends on associated fetal co-morbidities. There are many case reports on cystic hygroma but only a few on the axillo-thoraco-abdominal variant. This is a case report of a huge late-onset fetal axillo-thoraco-abdominal cystic hygroma, which was diagnosed at term followed by a difficult vaginal delivery in a 38-year-old woman. The baby did not have any congenital anomaly other than cystic hygroma with no evidence of intrathoracic or intra-abdominal extension of mass and a pelvic kidney reported on neonatal ultrasound and CT scan. The surgical excision of the cyst was done on the fourth day following birth and the histopathology report confirmed the diagnosis. Management of fetal cystic hygroma with the use of a sclerosing agent is a new modality being explored. Risk of recurrence in subsequent pregnancies for aneuploidy is not increased. The baby has been followed up to 5 months of birth and is thriving well. Karyotype shows an XX pattern.     

胎儿颈部囊性淋巴瘤的产前诊断及临床探讨

目的　探讨胎儿颈部囊性淋巴瘤 (nuchalcystichygroma ,NCH)的产前诊断及妊娠期的处置。　方法　回顾性分析 1996年 3月～ 2 0 0 3年 3月我院 10例胎儿NCH产前超声声像、介入性羊膜腔穿刺查胎儿染色体及TORCH感染情况、胎儿病理。　结果　超声图象 :颈周及背部见囊性液性暗区最小为 5 .3cm× 4 .8cm× 4 .0cm ,最大为 12 .6cm× 6 .6cm× 4 .0cm ,并发胸腔积液 4例、胸腹腔积液及皮下积液 4例。足月分娩 1例并存活 ,引产 9例 (包括死胎 4例 )。羊水TORCH感染各项检查 7例 ,除 1例TOX PCR阳性 ,均阴性 ;羊水染色体检查 2例 ,1例为 4 5XO ,1例为 4 5XO/ 4 6XX(6 0 :4 0 ) ,查胎儿血 (脐带或心脏 ) 3例 ,2例均为 4 5XO ,1例为 4 5XX ,- 2 1,- 2 2 , t(2 1;2 2 ) ,足月剖宫产儿外周血为 4 6XX。病理 :颈部囊状淋巴瘤。　结论　超声及介入性羊膜腔穿刺查胎儿染色体在早期诊断及处置胎儿NCH起决定性作用 ,胎儿NCH与Turner综合征等染色体异常相关。     

Prenatal diagnosis and outcome of lymphangiomas and its relationship with fetal chromosomal abnormalities

Objectives: Our aim was to evaluate ultrasound findings and perinatal outcome after prenatal diagnosis of lymphangioma.

Methods: This was a retrospective case series study. We searched the archives of our ultrasound database at our center for cases with the prenatal diagnosis of the lymphangioma in the period between January 2008 and November 2014. We described maternal, fetal and perinatal variables for all cases.

Results: Nine fetuses with lymphangioma were identified. All cases were diagnosed during the second and third trimesters with the average gestational age of 22.6?±?3.9 weeks. The average diameter of lymphangioma was 55.4?±?20.1?mm at the time of diagnosis. Five fetuses (55.6%) had lymphangioma on the neck, and four fetuses (44.4%) had lymphangioma on other localizations. Normal fetal karyotype was detected in all cases. There were a total of six live births, one intrauterine death and two medical terminations of pregnancy following the diagnosis of lymphangioma. No abnormal Doppler finding or hydrops were detected in the antenatal follow-up of remaining six cases.

Conclusion: The risk of chromosomal abnormalities is very low in pregnancies with isolated lymphangioma. The outcome of pregnancies with lymphangioma is generally favorable and prognosis depends on their locations and size.     

Long-term outcome of fetus with ameliorated cystic hygroma

ObjectiveCystic hygroma often ameliorates or disappears with pregnancy progression. Fetuses/neonates with amelioration, when without chromosomal or major structural abnormality, generally show a favorable outcome at birth. The present study was aimed to clarify the short/long-term outcomes of fetuses/neonates with the amelioration of cystic hygroma during pregnancy.Material and methodsThis was a retrospective observational study. We focused on fetuses with cystic hygroma managed in our institute between January 2006 and June 2019. The infants were followed by pediatricians (neonatologist, pediatric cardiologist, and pediatric neurologist) and pediatric outcomes were retrieved from the medical records up to 3 years old.ResultsOne hundred and seven fetuses with cystic hygroma were included. Of the 107, cystic hygromas ameliorated in 31 fetuses (31/107: 29%). Of the 31, there were 26 livebirths. Half (n = 13) of the 26 fetuses had a good outcome, whereas the remaining half (n = 13) had abnormalities. Various abnormalities were detected in their infancies. A nuchal thickness (diameter of hygroma) of ≥5 mm was significantly correlated with abnormalities (P = 0.047).ConclusionPhysicians should pay attention to fetuses/neonates with ameliorated cystic hygroma. Of those, special attention should be paid to fetuses/neonates with a nuchal thickness at diagnosis ≥5 mm.     

Natural history and outcome of prenatally diagnosed cystic hygroma

OBJECTIVE: To define the outcome in cases of cystic hygroma diagnosed from a routine obstetric population. METHOD: This was a retrospective study of 42 cases of fetal cystic hygroma detected at 11 to 23 weeks' gestation in a routine obstetric population of 25 352 pregnancies. Fetal cystic hygroma was categorized according to position, severity, presence of cardiac defects and Hydrops fetalis. RESULTS: There were 20 (47.6%) cases with aneuploidy (9 trisomies and 11 Turner's syndrome). Major congenital cardiac defects were identified in 12 (28.6%) cases. Regression of the hygroma was noted in 2/20 (10%) of the aneuploid pregnancies and 3/17 (17.6%) of the euploid pregnancies. The majority (90.0%) of the aneuploid fetuses were female. In contrast, 70.58% of the fetuses in the euploid group were male and all the surviving normal babies were also male (n = 3). CONCLUSION: The findings of this study would support invasive prenatal diagnosis for an ultrasound finding of fetal cystic hygroma. Even in euploid pregnancies with cystic hygroma, there is a high mortality with associated abnormalities. The data also suggest a guarded pregnancy prognosis for the finding of fetal cystic hygroma, and that it is improved with spontaneous resolution, especially in male fetuses of normal karyotype.