First-trimester and early second-trimester diagnosis of nuchal cystic hygroma by transvaginal sonography: Diverse prognosis of the septated from the nonseptated lesion

Bronshtein, Moshe; Rottem, Shraga; Yoffe, N; Blumenfeld, Zeev

doi:10.1016/0002-9378(89)90237-8

Cited by 121 publications

(78 citation statements)

References 8 publications

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“…Early (10-15 weeks) US diagnosis and spontaneous re gression of CHC with surviving normal neo nates were reported recently [31][32][33]. Bron shtein et al [33] found that, out of 8 fetuses diagnosed early (9-15 weeks) of having CHC with transvaginal sonography, 4 had nonseptated hygroma. Three of these fetuses showed spontaneous resolution of the CHC and nor mal survival at term.…”

Section: Discussionmentioning

confidence: 99%

Amniotic Fluid Alpha-Fetoprotein Levels in the Differential Diagnosis of Cystic Hygroma

Sorokin¹,

Johnson²,

Drugan³

et al. 1989

Fetal Diagn Ther

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In 7 second trimester pregnancies ultrasound (US) demonstrated cystic hygroma colli (CHC); amniocentesis was performed in 6 patients. In the 7th patient, because of oli-gohydramnios, the fluid for karyotype was aspirated from the CHC. Five pregnancies had been referred secondary to abnormalities on US and 2 others because of low maternal serum alpha-fetoprotein (MSAFP). Four karyotypes were abnormal (45, X; 47, XX+21; 47.XY+21; 46, XX/45, X), and 3 had normal karyotypes. Amniotic fluid alpha-fetoprotein (AFAFP) was normal in 4 pregnancies and low in 2 (0.09 MOM, 0.41 MOM). Of 2 pregnancies with trisomy 21 one had been referred for low MSAFP. In 2 pregnancies with normal karyotypes, US findings at early gestational age (14–17 weeks) of small, nonseptated, bilateral CHC disappeared during pregnancy; these women delivered normal, term babies. Most prenatally diagnosed CHC are not in fetuses with Turner syndrome. With a normal karyotype and CHC as the only finding on early US in utero, normal neonatal survival is possible. AFAFP is not elevated in pregnancies with CHC. If AFAFP is elevated with a positive acetylcholinesterase, such results may suggest that the CHC was inadvertently aspirated.

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Section: Discussionmentioning

confidence: 99%

Amniotic Fluid Alpha-Fetoprotein Levels in the Differential Diagnosis of Cystic Hygroma

Sorokin¹,

Johnson²,

Drugan³

et al. 1989

Fetal Diagn Ther

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“…1) and their clinical implication is not entirely clear. In our experience [11], the rate of chromosome anomalies associated with this lesion is in the range of 3-5%. Thus, although complete regression of nonseptated cystic hygromas (as happened in the present case) is the rule, this lesion apparently indi cates an increased risk of aneuploidy.…”

Section: Discussionmentioning

confidence: 92%

Changing Dysmorphology of Trisomy 18 during Midtrimester

1993

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A fetus affected by trisomy 18 was observed serially on ultrasound from 14 to 21 weeks of gestation. The earliest and sole dysmorphic feature noted at 14 weeks of gestation were non-septated nuchal cysts. At 17 weeks the ultrasound examination was considered normal. However, at 21 weeks gestation, bilateral choroid plexus cysts, clubfoot, growth retardation and overlapping fingers were observed. These findings suggest that the dysmorphology associated with trisomy 18 is dynamic in nature and may change along the course of pregnancy.

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“…Bronshtein et al 58 and Szabo and Gellen 59 first reported an association between increased NT in the first trimester and abnormal karyotype. By 1992, studies had demonstrated that NT measurement could serve as a useful screening marker of fetal Down syndrome.…”

Section: Introductionmentioning

confidence: 99%

Technical standards and guidelines: Prenatal screening for Down syndrome that includes first-trimester biochemistry and/or ultrasound measurements

Palomaki

Lee²,

Canick

et al. 2009

Genetics in Medicine

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Disclaimer: These Standards and Guidelines are designed primarily as an educational resource for clinical laboratory directors to help them provide quality clinical laboratory genetic services. Adherence to these standards and guidelines does not necessarily ensure a successful medical outcome. These standards and guidelines should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, the clinical laboratory director should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen. It may be prudent, however, to document in the laboratory record the rationale for any significant deviation from these standards and guidelines.Abstract: This statement is intended to augment the current general ACMG Standards and Guidelines for Clinical Genetics Laboratories and to address guidelines specific to first-trimester screening for Down syndrome. The aim is to provide the laboratory the necessary information to ensure accurate and reliable Down syndrome screening results given a screening protocol (e.g., combined first trimester and integrated testing). Information about various test combinations and their expected performance are provided, but other issues such as availability of reagents, patient interest in early test results, access to open neural tube defect screening, and availability of chorionic villus sampling are all contextual factors in deciding which screening protocol(s) will be selected by individual health care providers. Individual laboratories are responsible for meeting the quality assurance standards described by the Clinical Laboratory Improvement Act, the College of American Pathologists, and other regulatory agencies, with respect to appropriate sample documentation, assay validation, general proficiency, and quality control measures. These guidelines address first-trimester screening that includes ultrasound measurement and interpretation of nuchal translucency thickness and protocols that combine markers from both the first and second trimesters. Laboratories can use their professional judgment to make modification or additions. Genet Med 2009:11(9):669 -681.

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First-trimester and early second-trimester diagnosis of nuchal cystic hygroma by transvaginal sonography: Diverse prognosis of the septated from the nonseptated lesion

Cited by 121 publications

References 8 publications

Amniotic Fluid Alpha-Fetoprotein Levels in the Differential Diagnosis of Cystic Hygroma

Amniotic Fluid Alpha-Fetoprotein Levels in the Differential Diagnosis of Cystic Hygroma

Changing Dysmorphology of Trisomy 18 during Midtrimester

Technical standards and guidelines: Prenatal screening for Down syndrome that includes first-trimester biochemistry and/or ultrasound measurements

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