The natural history of euploid pregnancies with first-trimester cystic hygromas

Trauffer, P.; Anderson, Carol E.; Johnson, Anthony; Heeger, Shauna; Morgan, Patricia; Wapner, Ronald J.

doi:10.1016/s0002-9378(94)70142-3

Cited by 43 publications

(21 citation statements)

References 25 publications

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“…The largest screen magnification was used and the maximum thickness of the subcutaneous translucency was measured using ''on to on'' position of the callipers. Second-trimester ultrasound evaluation was performed as routine prenatal surveillance at weeks [18][19][20]. Informed consent was obtained and all the women participated in the ultrasound study voluntarily.…”

Section: Methodsmentioning

confidence: 99%

“…Spontaneous resolution of nuchal edema occurs in 90% of pregnancies with an increased NT and a normal karyotype. These pregnancies will result in normal neonates [19]. Only the remaining 10% of fetuses with an increased NT need further evaluation (with targeted fetal echocardiography), which does not mean too great an overload for the medical personnel.…”

Section: Follow-up and Clinical Management Of Pregnancies With An Incmentioning

confidence: 99%

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Increased nuchal translucency and congenital heart defects in euploid fetuses

Orvos

Wayda

Kozinszky

et al. 2002

European Journal of Obstetrics & Gynecology and Reproductiv

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Objective: To determine the utility of the first-trimester fetal nuchal translucency (NT) thickness in the prediction of fetal cardiac malformations. Design: Retrospective study. Setting: Department of Obstetrics and Gynecology and Medical Genetics, University of Szeged. Methods: The pre-and postnatal course and outcome, and the relationship between the first-trimester fetal NT thickness and fetal congenital heart defects (CHDs) in 4309 pregnancies ended up with birth or therapeutic abortion between January 1998 and June 2000 were registered. Prenatal care included first-and second-trimester fetal sonography at weeks 10-13 and 18-20, respectively. Results: 4251 births and 58 first-and second-trimester therapeutic abortions due to lethal congenital malformations or chromosomal abnormalities were recorded. Altogether 209 (4.9%) congenital malformations were detected, 39 (18.7%) of which were heart defects with normal karyotype. At birth, 151 congenital malformations were diagnosed, 34 of them were known prenatally. The prevalence of CHDs was 9 per 1000 pregnancies. The measurement of fetal NT thickness was available in 35 of the 39 fetuses with heart defects: it was !3 mm in 18 (51.4%) and <3 mm in 17 (48.6%). A sensitivity of 51.4% was found at a cutoff of 3 mm. Conclusions: An increased NT thickness in chromosomally normal fetuses was found to be highly associated with CHDs and identified in more than half of the affected cases. Furthermore, an increased NT of !3 mm can be regarded a selection criterion for early second-trimester targeted fetal echocardiography and for increased fetal and neonatal surveillance. #

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Section: Methodsmentioning

confidence: 99%

Section: Follow-up and Clinical Management Of Pregnancies With An Incmentioning

confidence: 99%

Increased nuchal translucency and congenital heart defects in euploid fetuses

Orvos

Wayda

Kozinszky

et al. 2002

European Journal of Obstetrics & Gynecology and Reproductiv

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“…This is particularly so when the fetus is found to have a heart defect characteristic of this condition (such as our case 4). A variety of prenatal presentations of Noonan syndrome have been reported (Benacerraf et al, 1989;Langer et al, 1990;Izquierdo et al, 1990;Donnenfeld et al, 1991;Johnson et al, 1993;Schulman et al, 1994;Trauffer et al, 1994;Brady et al, 1998). A history of polyhydramnios may be obtained in 33 per cent of mothers of a child with Noonan syndrome (Sharland et al, 1992).…”

Section: Discussionmentioning

confidence: 99%

Prenatal features of Noonan syndrome

Nisbet

Griffin

Chitty³

1999

Prenat. Diagn.

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“…These results corroborate previously published studies indicating that detection of fetal cystic hygroma is associated with an increased risk for abnormal karyotype and poor outcome. 1,14,[18][19][20][21] While most published series included fetuses assessed over a wide gestational interval, usually from the first trimester to midpregnancy, the present report focused on diagnoses made at 15-18 weeks, when maternal serum screening for Down's syndrome is usually performed. In a large series of 132 fetuses with cystic hygroma at 11-14 weeks of gestation, the prevalence of chromosomal abnormalities was 51%.…”

Section: Discussionmentioning

confidence: 99%

Cystic hygroma and mid-trimester maternal serum screening

et al. 2007

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Objective To investigate the relationship between maternal serum screening markers and pregnancy outcome in fetuses with cystic hygroma at 15-18 weeks of gestation. Study design We retrospectively reviewed case-notes of 34 consecutive singleton fetuses with cystic hygroma referred at 15-18 weeks of gestation. All cases had maternal blood sampled for triple screening at the time of the ultrasound scan. Results In total, 62% of fetuses with cystic hygroma had abnormal chromosome complements and 80% had a poor outcome. Six fetuses presenting normal values of human chorionic gonadotropin (0.5-2.5 MoM [multiples of the median]), serum alpha-fetoprotein (0.5-2.5 MoM) and unconjugated estriol (>0.5 MoM), normal karyotype and absence of associated structural anomalies had an uneventful outcome. Conclusions Our data demonstrated that cystic hygroma at 15-18 weeks has a strong association with chromosomal abnormalities. In euploid fetuses, maternal serum screening results may have a role in the diagnostic work-up of the pregnancy.

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The natural history of euploid pregnancies with first-trimester cystic hygromas

Cited by 43 publications

References 25 publications

Increased nuchal translucency and congenital heart defects in euploid fetuses

Increased nuchal translucency and congenital heart defects in euploid fetuses

Prenatal features of Noonan syndrome

Cystic hygroma and mid-trimester maternal serum screening

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