Cases Of Fetal Cystic Hygroma Research Articles

VP04.15: Prenatal diagnosis and outcome of fetal cystic hygroma

To investigate the outcome of fetuses with cystic hygroma diagnosed at the first trimester from a general population in Crete. The study included pregnancies either referred to or admitted to our clinic in the General Hospital of Chania during the past decade, with a diagnosis of fetal cystic hygroma made between the 10th and 14th week. Diagnosis was made sonographically, with midsagittal and transverse views of the fetal neck demonstrating markedly increased nuchal translucency (> = 95th percentile for CRL), excessive nuchal fluid and septations, albeit with an intact spinal column and skull. Fetal karyotyping and genetic counselling were routinely offered to the parents. Pregnancy outcomes varied from miscarriage, elective termination, intrauterine death (at or above 22 weeks of gestation) to livebirth and/or neonatal death. 21 cases of fetal cystic hygroma were recorded. The mean sise of the defect was 7.3mm. Cardiac malformations were detected in 4 cases and micrognathia in one. Chromosomal abnormalities were present in 47.6% of cases, with 5 of them diagnosed as Down's syndrome. 6 pregnancies with normal karyotype resulted in livebirths, where no severe structural abnormalities were present. In total, an unfavourable outcome (miscarriage, elective termination, severe malformations) was recorded in 71,4% of the cases. Fetal cystic hygroma is a strong indicator of karyotype abnormalities and cardiac defects. The postnatal outcome of fetuses with cystic hygroma appears to be in relation to the presence of structural and/or chromosomal abnormalities.

Analysis of cystic hygroma diagnosed in the first trimester: Single-center experience

Objective:To evaluate the obstetric outcomes of fetuses with cystic hygroma other than karyotype abnormalities and structural malformations.Material and Methods:We conducted a retrospective study based on the review of medical records of pregnant women in whom ultrasonographic diagnosis of fetal cystic hygroma was established in the first trimester from January 2014 to October 2018. All patients were offered genetic counselling and prenatal invasive diagnostic procedures to obtain fetal karyotype. For ongoing pregnancies fetal echocardiography and detailed second trimester sonographic anomaly screening was performed by a perinatologist/pediatric cardiologist. The demographic characteristics of the women and the results of the karyotype analysis were obtained from the database of our hospital and correlated with the obstetric outcomes.Results:Within a five-year period, there were 106 cases of fetal cystic hygroma. Of those, fetal cardiac malformations were detected in four and micrognathia in one fetus. Eighty-five women underwent fetal invasive procedures and karyotype abnormalities were detected in 52 of the cases. Fetal outcomes of 33 cases with normal karyotype and 21 cases in whom karyotyping analysis were not performed due to patient refusal were enrolled into the study. Obstetric outcomes of 21 women who refused karyotyping consisted of 13 livebirths, seven missed abortions, and one fetal death, whereas those of 33 women with normal karyotype were; 12 livebirths, 12 missed abortions, two hydrops fetalis, and five fetal deaths. Nineteen of 33 fetuses with a normal karyotype and eight of 21 fetuses in whom karyotyping was not performed were terminated.Conclusion:The presence of cystic hygroma carries a high risk for fetal karyotype abnormalities and cardiac malformations. The postnatal outcomes of the fetuses with cystic hygroma appeared to be correlated with the absence of structural malformations and karyotype abnormalities.

Prenatal Diagnosis and Fetal Outcomes of Cystic Hygroma: Experience of a Tertiary Hospital

Objective: Cystic hygromas of nuchal origin are reported to be associated with fetal aneuploidy and structural anomalies in 50-80% of the cases. We aimed to report our experience on cystic hygromas via 18 cases.Study Design: We conducted a retrospective study based on a review of medical records of patients who had fetal septated cystic hygroma, diagnosed by ultrasonography, in the Ankara University School of Medicine, Department of Obstetrics and Gynecology, between 2012 and 2016. All patients were provided with genetic counselling and prenatal invasive diagnostic procedures were applied to obtain fetal karyotype.Results: We observed 18 cases of fetal cystic hygroma among these patients (0.39%). The abnormal karyotypes were: Turner syndrome (45X0) in 3 (16.7%), trisomy 21 in 2 (11.1%), trisomy 18 in 1 (5.6%) and mosaic Turner syndrome in 1 (5.6%) patient.Conclusion: The presence of cystic hygroma carries a high risk for aneuploidy and major structural malformations. Invasive prenatal diagnostic procedures for fetal karyotype analyses and parental counselling about poor perinatal prognosis is mandatory.

Prenatal Diagnosis of Fetal Cystic Hygroma Using Three-dimensional Ultrasound in 2000–2011

Prenatal diagnosis of cystic hygroma (CH) is very important to clinical management in fetal medicine. To date, ultrasound is the best tool for prenatal diagnosis. With recent advances in technology, three-dimensional ultrasound (3D US) contributes substantially to the prenatal diagnosis of CH. In this series, we reported our work of detecting fetal CH by 3D US from July 2000 to December 2011. We reviewed our computer database of prenatal diagnosis of CH in National Cheng Kung University Hospital. All the fetuses were initially scanned by two-dimensional US to locate the region-of-interest. The 3D probe was used to scan all the regions of interest systematically and mechanically, and all the images were stored on laser discs for further 3D visualization and reconstruction. In total, 85 cases of fetal CH were diagnosed in utero . The range of gestational age at prenatal diagnosis by 3D US was between 9 and 27 weeks (mean: 14.1 weeks), and 55 cases were diagnosed before 14 weeks (65%). Only three cases were diagnosed after 21 weeks (4%). In 20 fetuses with karyotping, 11 (55%) had chromosomal abnormalities. In 11 fetuses with aneuploidy, eight (73%) had Turner syndrome (45, X). Forty-three cases (51%) of CH were complicated with hydrops fetalis, and 20 (24%) were complicated with other additional structural abnormalities. In conclusion, 3D US can add novel visual depiction of a 3D lesion of CH after reconstruction, and is helpful in prenatal diagnosis and genetic consultation of CH. Furthermore, the trend analysis in this series showed significantly earlier gestational age at prenatal diagnosis of CH than a decade ago.

Natural history and outcome of prenatally diagnosed cystic hygroma

To define the outcome in cases of cystic hygroma diagnosed from a routine obstetric population. 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. 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). 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.

Intrauterine Therapy for the Acutely Enlarging Fetal Cystic Hygroma

Enlarged fetal cystic hygroma is known to cause life-threatening complications such as fetal hydrops and neonatal respiratory difficulty. A 28-year-old Japanese woman, gravida 0, presented with fetal cystic hygroma at 23 weeks of gestation. There were no other structural malformations or hydrops detected by ultrasonographic examination. In addition, the karyotype was diagnosed as normal through amniotic fluid analysis. The cystic lesion showed acute enlargement and intrauterine sclerotherapy using OK-432 was performed at 26 weeks. The size of the cyst initially decreased, which was followed by a gradual increase. A viable 3,098 g male infant was delivered by cesarean section at 37 weeks without any other complications. The infant had no clinical difficulty during the neonatal period and later underwent a surgical removal of the remaining cystic lesion. Cases of fetal cystic hygroma showing acute enlargement without other complications are considered good candidates for intrauterine therapy to prevent subsequent complications.

Prenatal depiction of cystic hygroma using three-dimensional ultrasound

Prenatal diagnosis of fetal cystic hygroma is very important in clinical medicine. In this series, we report our work of detecting cystic hygroma using three-dimensional (3-D) ultrasound (US). We reviewed our computer database of prenatal diagnosis on cystic hygroma in National Cheng Kung University Hospital from May 1995 to June 2000. All the fetuses were initially scanned by a high-resolution, real-time, 2-D US scanner and subsequently by a 3-D US scanner. In total, 23 cases of fetal cystic hygroma were diagnosed in utero. The range of gestational age at prenatal diagnosis by US was between 11 and 24 weeks, and 91% were diagnosed before 21 weeks. Among them, 8 cases (35%) were Turner syndrome (45,X), and 10 cases (43%) were complicated with hydrops fetalis. Although the diagnostic rates by 2-D US and 3-D US were both 100% (23 of 23), notably, 3-D US can provide additional vivid illustrations in 3-D after various modes of reconstruction, but 2-D US cannot. In conclusion, 3-D US may add novel visual depiction of the lesion in 3-D after reconstruction and, thus, assists substantially in prenatal consultation.(E-mail: fchang@mail.ncku.edu.tw)

Two Cases of Fetal Cystic Hygroma Diagnosed during the Second Trimester of Pregnancy

Two Cases of Fetal Cystic Hygroma Diagnosed during the Second Trimester of Pregnancy

Alpha‐fetoprotein and ultrasound scanning in the prenatal diagnosis of Turner's Syndrome

Based on data from 5 cases of fetal cystic hygroma (4 cases of Turner's Syndrome and one case of Trisomy 18) and one case of Down's Syndrome with severe subcutaneous oedema, it is concluded that amniotic fluid alpha-fetoprotein (AFP) is normal or only slightly elevated in such cases whereas AFP in fluid from the cystic structures is very high. Reported high values of 'amniotic fluid' AFP are therefore likely to have been obtained from fluids accidentally drawn from the cystic structures. Fluids from the two sources cannot be distinguished from each other visually. In support of this theory is that the maternal serum AFP was found to be normal in all cases where investigated. In the diagnosis of cystic hygromata detailed ultrasound scanning will reveal the correct diagnosis.