Euploid First-Trimester Cystic Hygroma: A More Benign Entity than Previously Thought?

Objective: Studies summarizing the outcome of first-trimester septated cystic hygroma are generally based on small studies or from multiple centers with limited ascertainment. We reviewed the natural history of a large cohort of such cases from a single tertiary referral center, with the aim being to establish contemporary outcome data, particularly in the setting of normal karyotype. Methods: A retrospective cohort study from 2007 to 2017 was conducted at a single tertiary referral prenatal diagnosis center. Data were analyzed from a prospectively collated fetal anomaly database. Search terms were “increased nuchal translucency (NT),” “cystic hygroma,” and “septated cystic hygroma.” All cases were confirmed to have NT >3 mm with septations. Cases of simple increased NT without septations were excluded. Results: During the study period, over 110,000 pregnancies were delivered at our center, resulting in 410 cases of septated cystic hygroma diagnosed prior to 14 weeks’ gestation. Pregnancy outcome was obtained in 99% (405/410) of cases, with detailed pathology outcome available in 92% (378/410). A total of 87% (351/405) underwent invasive prenatal testing, and postnatal chromosome status was established in further 27 cases. A total of 61% (230/378) had abnormal chromosomal status. Of the 39% (148/378) with normal chromosomal status, only 13% (19/148) had a significant structural fetal abnormality, which included 7 cardiac and 12 noncardiac abnormalities. Overall, the perinatal loss was 62% (253/405). The total survival rate in the setting of euploid cystic hygroma without structural abnormality was 84% (108/129). Conclusions: Counseling regarding outcomes in the setting of first-trimester septated cystic hygroma initially focuses on the strong likelihood of an abnormal karyotype, which occurs in 61% of cases. However, once fetal chromosomal abnormality is excluded, our results demonstrate only a 13% incidence of major structural fetal abnormality, which appears significantly less than previously reported. Normal fetuses have a 77% survival rate. These data represent the largest single-center study of first-trimester cystic hygroma with complete outcome data and therefore will be useful for contemporary patient counseling. Such counseling can be more positive than previously expected, once chromosomal abnormality is first excluded.

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P02.06: First-trimester cystic hygroma: diagnosis, management and outcomes in an Irish tertiary referral centre

Ultrasound in Obstetrics and Gynecology ◽

10.1002/uog.3438 ◽

2006 ◽

Vol 28 (4) ◽

pp. 524-524

Author(s):

C. M. Lynch ◽

J. Darymple ◽

C. Barry-Kinsella ◽

M. P. Geary ◽

F. D. Malone

Keyword(s):

First Trimester ◽

Cystic Hygroma ◽

Referral Centre ◽

Tertiary Referral ◽

Tertiary Referral Centre

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Prognostic significance of prenatal ultrasound in fetal arthrogryposis multiplex congenita

Archives of Gynecology and Obstetrics ◽

10.1007/s00404-020-05828-4 ◽

2020 ◽

Author(s):

Brit Busack ◽

Claus-Eric Ott ◽

Wolfgang Henrich ◽

Stefan Verlohren

Keyword(s):

Neonatal Death ◽

Prognostic Significance ◽

Outcome Data ◽

Arthrogryposis Multiplex Congenita ◽

Type I ◽

Disease Entity ◽

Patient Counseling ◽

Tertiary Referral ◽

Tertiary Referral Center ◽

Neuromuscular Dysfunction

Abstract Purpose Fetal arthrogryposis multiplex congenita (AMC) describes a heterogeneous disease entity characterized by multiple contractures affecting at least two different body areas. The aim of our study was to identify additional sonographic abnormalities in fetuses with AMC Type I–III associated with an unfavorable prognosis and to describe when those signs were first detected. Methods This retrospective study included 41 pregnancies of suspected AMC diagnosed 1999–2017 at our tertiary referral center. The affected pregnancies were divided into the 3 AMC subgroups; the time of detection and outcome were analyzed. Prenatal sonograms, pediatric charts, genetic tests, and autopsy reports were studied. Results Pregnancy outcome data were verifiable in 34 out of 41 cases; in 27 cases, AMC was confirmed. Hydrops was present in 50% of postnatally deceased fetuses, 53% of cases resulting in termination of pregnancy vs. 0% of the surviving 8 children. Absent stomach filling was found in 67% of the children with neonatal death. After subcategorization, the limb-involvement-only-group, 8% showed hydrops vs. 100% in system anomaly group vs. 70% in neuromuscular dysfunction cohort (p = 0.001). Scoliosis, nuchal edema, and absent stomach filling were significantly indicating for a neurological etiology. Conclusion In addition to disease-defining sonographic findings, those with prognostic significance were identified. Hydrops, nuchal edema, scoliosis and absent stomach filling were associated with unfavorable outcomes implicating a neuromuscular etiology. This knowledge can help to predict the further course of the disease and support patient counseling.

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Prenatal sonographic diagnosis of Cantrell's pentalogy with cystic hygroma in the first trimester

Journal of Clinical Ultrasound ◽

10.1002/(sici)1097-0096(199810)26:8<409::aid-jcu7>3.0.co;2-m ◽

1998 ◽

Vol 26 (8) ◽

pp. 409-412 ◽

Cited By ~ 21

Author(s):

Yao-Yuan Hsieh ◽

Chien-Chung Lee ◽

Chi-Chen Chang ◽

Horng-Der Tsai ◽

Tai-Yen Hsu ◽

...

Keyword(s):

First Trimester ◽

Cystic Hygroma ◽

Sonographic Diagnosis ◽

Cantrell's Pentalogy

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First trimester tricuspid regurgitation and fetal abnormalities

Journal of Perinatal Medicine ◽

10.1515/jpm-2014-0058 ◽

2015 ◽

Vol 43 (5) ◽

Cited By ~ 2

Author(s):

Marcin Wiechec ◽

Agnieszka Nocun ◽

Ewa Wiercinska ◽

Jill Beithon ◽

Anna Knafel

Keyword(s):

Tricuspid Regurgitation ◽

Screening Tool ◽

Ultrasound Examination ◽

First Trimester ◽

Study Group ◽

Fetal Life ◽

Inclusion Criteria ◽

Positive Group ◽

Congenital Cardiac Defects ◽

Chromosomal Status

AbstractTricuspid regurgitation (TR) is a common sonographic finding during the fetal life. It has been reported in 7% of normal fetuses. It may be associated with aneuploidy and with both cardiac and extracardiac defects.In this study, we have looked at the characteristics of fetuses with and without TR at 11The study group included women, who underwent an ultrasound examination at 11–13Some 1075 patients met our inclusion criteria including 979 fetuses without TR and 96 with TR. There were 72 cases of aneuploidy diagnosed (6.7%). Isolated TR was found in 53 euploid fetuses (5.2%). All of the TR(+) aneuploid fetuses (n=40) had additional ultrasound markers present. Extracardiac anatomy showed a higher prevalence of abnormalities in the group of TR positives (12.5%) vs. TR negatives (1.6%). Abnormal cardiac findings were more frequent in the TR-positive group independently of chromosomal status and were found in 18.8% of fetuses with TR and in 1.9% with a normal tricuspid flow.TR in combination with other markers is the strongest predictor for aneuploidy. TR, as an isolated parameter, is a poor screening tool both for all and for each individual chromosomal abnormality and congenital cardiac defects.

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Karyotype and outcome of fetuses diagnosed with cystic hygroma in the first trimester in relation to nuchal translucency thickness

Prenatal Diagnosis ◽

10.1002/pd.1423 ◽

2006 ◽

Vol 26 (4) ◽

pp. 369-372 ◽

Cited By ~ 30

Author(s):

Richard Kharrat ◽

Masami Yamamoto ◽

Joelle Roume ◽

Sophie Couderc ◽

Francois Vialard ◽

...

Keyword(s):

First Trimester ◽

Nuchal Translucency ◽

Cystic Hygroma

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Gestation-Based Viability–Difficult Decisions with Far-Reaching Consequences

Children ◽

10.3390/children8070593 ◽

2021 ◽

Vol 8 (7) ◽

pp. 593

Author(s):

Sumesh Thomas ◽

Elizabeth Asztalos

Keyword(s):

Decision Making ◽

Preterm Birth ◽

Current Knowledge ◽

First Trimester ◽

Perinatal Period ◽

Outcome Data ◽

Future Research ◽

Extremely Preterm ◽

Fetal Maturity

Most clinicians rely on outcome data based on completed weeks of gestational of fetal maturity for antenatal and postnatal counseling, especially for preterm infants born at the margins of viability. Contemporary estimation of gestational maturity, based on ultrasounds, relies on the use of first-trimester scans, which offer an accuracy of ±3–7 days, and depend on the timing of the scans and the measurements used in the calculations. Most published literature on the outcomes of babies born prematurely have reported on short- and long-term outcomes based on completed gestational weeks of fetal maturity at birth. These outcome data change significantly from one week to the next, especially around the margin of gestational viability. With a change in approach solely from decisions based on survival, to disability-free survival and long-term functional outcomes, the complexity of the parental and care provider’s decision-making in the perinatal and postnatal period for babies born at less than 25 weeks gestation remains challenging. While sustaining life following birth at the margins of viability remains our priority—identifying and mitigating risks associated with extremely preterm birth begins in the perinatal period. The challenge of supporting the normal maturation of these babies postnatally has far-reaching consequences and depends on our ability to sustain life while optimizing growth, nutrition, and the repair of organs compromised by the consequences of preterm birth. This article aims to explore the ethical and medical complexities of contemporary decision-making in the perinatal and postnatal periods. We identify gaps in our current knowledge of this topic and suggest areas for future research, while offering a perspective for future collaborative decision-making and care for babies born at the margins of viability.

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The Natural History of Trisomy 21: Outcome Data from a Large Tertiary Referral Centre

Fetal Diagnosis and Therapy ◽

10.1159/000517729 ◽

2021 ◽

pp. 1-7

Author(s):

Clare O’Connor ◽

Rebecca Moore ◽

Peter McParland ◽

Heather Hughes ◽

Barbara Cathcart ◽

...

Keyword(s):

Trisomy 21 ◽

Pregnancy Loss ◽

Loss Rate ◽

Outcome Data ◽

Second Trimester ◽

Referral Centre ◽

Tertiary Referral ◽

Tertiary Referral Centre ◽

History Of ◽

Baseline Demographic

Objective: The aim of the study was to prospectively gather data on pregnancy outcomes of prenatally diagnosed trisomy 21 (T21) in a large tertiary referral centre. Methods: Data were gathered prospectively in a large tertiary referral centre over 5 years from 2013 to 2017 inclusively. Baseline demographic and pregnancy outcome data were recorded on an anonymized computerized database. Results: There were 1,836 congenital anomalies diagnosed in the study period including 8.9% (n = 165) cases of T21. 79% (n = 131) were age 35 or older at diagnosis. 79/113 (69.9%) women chose a termination of pregnancy (TOP) following a diagnosis of T21. Amongst pregnancies that continued, there were 4 second-trimester miscarriages (4/34, 11.7%), 9 stillbirths (9/34, 26.4%), and 1 neonatal death, giving an overall pregnancy and neonatal loss rate of 14/34 (41.1%). Conclusion: The risk of foetal loss in prenatally diagnosed T21 is high at 38% with an overall pregnancy loss rate of 41.1%. This information may be of benefit when counselling couples who are faced with a diagnosis of T21 particularly in the context of limited access to TOP.

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Cryptococcosis in pregnancy and the postpartum period: Case series and systematic review with recommendations for management

Medical Mycology ◽

10.1093/mmy/myz084 ◽

2019 ◽

Vol 58 (3) ◽

pp. 282-292

Author(s):

Katelyn A Pastick ◽

Elizabeth Nalintya ◽

Lillian Tugume ◽

Kenneth Ssebambulidde ◽

Nicole Stephens ◽

...

Keyword(s):

Survival Rate ◽

Pregnant Women ◽

Amphotericin B ◽

Cryptococcal Meningitis ◽

Treatment Guidelines ◽

Case Reports ◽

Case Series ◽

First Trimester ◽

Secondary Prophylaxis ◽

Fetal Survival

Abstract Cryptococcal meningitis causes 15% of AIDS-related deaths. Optimal management and clinical outcomes of pregnant women with cryptococcosis are limited to case reports, as pregnant women are often excluded from research. Amongst pregnant women with asymptomatic cryptococcosis, no treatment guidelines exist. We prospectively identified HIV-infected women who were pregnant or recently pregnant with cryptococcosis, screened during a series of meningitis research studies in Uganda from 2012 to 2018. Among 571 women screened for cryptococcosis, 13 were pregnant, one was breastfeeding, three were within 14 days postpartum, and two had recently miscarried. Of these 19 women (3.3%), 12 had cryptococcal meningitis, six had cryptococcal antigenemia, and one had a history of cryptococcal meningitis and was receiving secondary prophylaxis. All women with meningitis received amphotericin B deoxycholate (0.7–1.0 mg/kg). Five were exposed to 200–800 mg fluconazole during pregnancy. Of these five, three delivered healthy babies with no gross physical abnormalities at birth, one succumbed to meningitis, and one outcome was unknown. Maternal meningitis survival rate at hospital discharge was 75% (9/12), and neonatal/fetal survival rate was 44% (4/9) for those mothers who survived. Miscarriages and stillbirths were common (n = 4). Of six women with cryptococcal antigenemia, two received fluconazole, one received weekly amphotericin B, and three had unknown treatment courses. All women with antigenemia survived, and none developed clinical meningitis. We report good maternal outcomes but poor fetal outcomes for cryptococcal meningitis using amphotericin B, without fluconazole in the first trimester, and weekly amphotericin B in place of fluconazole for cryptococcal antigenemia.

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