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

Yakıştıran, Betül; Katlan, Doruk Cevdi; Söylemez, Feride

doi:10.21613/gorm.2018.789

Cited by 4 publications

(4 citation statements)

References 7 publications

(7 reference statements)

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“…In terms of pregnancy outcome, the rate of full-term delivery of a fetus with CH fluctuates between 7.5% and 18.8%. [13,15,32] In this study, the full-term delivery rate of fetuses with CH was 30.8%, which was higher than that reported in the literature. The prognosis of isolated CH with a normal genome is generally good under normal birth conditions.…”

Section: Discussioncontrasting

confidence: 66%

Retrospective analysis of genetic etiology and obstetric outcome of fetal cystic hygroma: A single-center study

et al. 2022

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Background: Cystic hygroma (CH) is a relatively common observation in prenatal ultrasounds; however, there are few studies about copy number variations (CNVs) of fetuses with CH. Methods: We performed a retrospective analysis on 40 pregnant patients (out of 8000 pregnant patients) whose fetuses had CH from November 2016 to June 2021. Villus, amniotic fluid, or umbilical cord blood samples were collected, based on the corresponding gestational age, for karyotype analysis and single-nucleotide polymorphism array (SNP-array). Results: Among the 40 fetuses with CH, 16 (40.0%, 16/40) exhibited isolated CH and 24 (60.0%, 24/40) exhibited CH combined with other ultrasound abnormalities. The most common CH-comorbid ultrasound abnormalities observed in this study were congenital heart disease (25.0%, 6/24), thickened nuchal translucency (20.8%, 5/24), and fetal edema (12.5%, 3/24). Karyotype and SNP-array analysis resulted in an overall detection rate of 30.0% (12/40). Karyotype analysis led to the detection of eight cases of pathogenic CNVs, among which 45, X was the most common. In addition to the above pathogenic CNV, four additional cases were detected by SNP-array. There was no significant difference in the observed pathogenic CNVs between isolated CH and CH combined with other ultrasound (31.3% vs 29.2%, P > .99). Karyotype analysis and SNP-array results influence whether parents terminate the pregnancy. When genetic abnormalities are detected in the fetus, the parents often choose to terminate the pregnancy. Conclusions: Our study emphasizes that genomic examination should be performed on fetuses with CH to confirm the etiology as soon as possible. During genetic counseling, all fetal characteristics should be carefully and comprehensively evaluated.

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Section: Discussioncontrasting

confidence: 66%

Retrospective analysis of genetic etiology and obstetric outcome of fetal cystic hygroma: A single-center study

et al. 2022

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“…In terms of pregnancy outcome, it has been reported that the rate of full-term delivery of fetus with CH uctuates from 7.5-18.8% [10,32,33]. In this paper, the full-term delivery rate of fetuses with CH was 30.8%, which was higher than that reported in literature.…”

Section: Discussioncontrasting

confidence: 54%

Genetic etiology and obstetric outcome analysis of fetal cystic hygroma in a single-center study

Cai

Lin

et al. 2022

Preprint

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Cystic hygroma (CH) is a somewhat common observation in prenatal ultrasounds; however, there is no consensus regarding the clinical management of fetuses with CH. A retrospective analysis was performed on 40 pregnant patients whose fetuses had CH from November 2016 to June 2021. Villus, amniotic fluid, or umbilical cord blood samples were collected according to the corresponding gestational age for karyotype analysis and single-nucleotide polymorphism array (SNP-array). Among the 40 fetuses with CH, 16 (40.0%, 16/40) exhibited isolated CH and 24 (60.0%, 24/40) exhibited CH combined with other ultrasound abnormalities. The most common CH-comorbid ultrasound abnormalities in this study were congenital heart disease (25.0%, 6/24), followed by thickened nuchal translucency (20.8%, 5/24), and fetal edema (12.5%, 3/24). After karyotype and SNP-array analysis, an overall detection rate of 30.0% (12/40) was achieved. Using karyotype analysis, eight cases of pathogenic copy number variations (CNVs) were detected, among which 45, X was the most common. In addition to the above pathogenic CNV, four additional cases of pathogenic CNVs were detected by SNP-array. There was no significant difference in pathogenic CNVs of isolated CH and CH combined with other ultrasound (31.3% vs. 29.2%, P = 1). Karyotype analysis and SNP-array results influence whether fetal parents terminate pregnancy. When genetic abnormalities are detected in the fetus, the parents often choose to terminate the pregnancy. Genomic examination should be performed on fetuses with CH to confirm the etiology as soon as possible. During genetic counseling, all fetal characteristics should be carefully and comprehensively evaluated.

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“…Generalized edema and hydrops may be the cause of left atrium dysfunction and aorta due to a compression effect leading to fetal death. In the literature, only a few studies have reported the resolution of hydrops and healthy newborns (11); the majority of the studies demonstrate that hydrops is associated with poor fetal outcomes (6,10,12,13). On the other hand, the resolution of nuchal edema with a normal karyotype is a good prognostic marker in the absence of any coexisting malformation.…”

Section: Discussionmentioning

confidence: 99%

“…Previous studies reported poorer perinatal outcomes in pregnancies with fetal cystic hygroma and associated aneuploidy (5,6). We conducted this retrospective study to evaluate the pregnancy outcomes of fetuses with cystic hygroma either with normal karyotype or with no karyotype analysis in the prenatal period.…”

Section: Introductionmentioning

confidence: 99%

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

Yakıştıran

Altınboğa

Canpolat

et al. 2020

J Turkish German Gynecol Assoc

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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.

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

Cited by 4 publications

References 7 publications

Retrospective analysis of genetic etiology and obstetric outcome of fetal cystic hygroma: A single-center study

Retrospective analysis of genetic etiology and obstetric outcome of fetal cystic hygroma: A single-center study

Genetic etiology and obstetric outcome analysis of fetal cystic hygroma in a single-center study

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

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