Antenatal Detection of Cystic Hygroma

Mm, Cohen; Schwartz, Sheldon; Mf, Schwartz; Mg, Blitzer; Lj, Raffel; Cl, Mullins-Keene; Cc, Sun; Kj, Blakemore

doi:10.1097/00006254-198906000-00025

Cited by 56 publications

(42 citation statements)

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“…There were only 2 normal survivors (9.5%) of the pregnancies with normal karyotype that chose to continue their pregnancies. Recently, Cohen et al [2], in a review of 164 pregnancy outcomes of reported cases with CHC, found 120 (73.2%) pregnancy terminations at the parents' re quest; 37 (22.6%) cases resulted in fetal death in utero prior to any intervention. Only 3 out of 44 continuing pregnancies (7%) resulted in living children, 2 of whom had normal karyotypes.…”

Section: Discussionmentioning

confidence: 99%

“…In a recent review [2] of 171 cases with CHC on ultrasound (US), out of 142 cases with avail able cytogenetic findings. 58% had a karyo type associated with Turner syndrome, 22% had normal karyotype and 28% had various other abnormalities, including trisomy 13 [4,5], trisomy 18 [3,[6][7][8][9][10][11], trisomy 21 [7,8,12], trisomy 22 mosaicism, 13q-, 18q-, par tial 1 lq,22q trisomy, and single gene disor ders inherited in an autosomally recessive manner.…”

Section: Introductionmentioning

confidence: 99%

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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%

Section: Introductionmentioning

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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“…All The results of the ultrasound examinations and fetalis, n -11: encephalocele or cervical spina bifida, fetal karyotype were given to the referring obstetrin = 5; cervical teratoma, n = 1). The mean gestational cians who undertook the further management of the age at referral was 19 (range [16][17][18][19][20][21][22][23][24][25] weeks.…”

Section: Methodsmentioning

confidence: 99%

Fetal Nuchal Cystic Hygromata: Associated Malformations and Chromosomal Defects

et al. 1991

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During a 6-year period (1985–1990), blood karyotyping was performed in 44 fetuses with septated, bilateral, dorsal, cervical cystic hygromata. This condition constitutes a different entity from nuchal oedema. There were 33 (75%) chromosomal abnormalities, including Turner’s syndrome (n = 31), trisomy 18 (n = 1) and trisomy 21 (n = 1). Congenital heart defects (CHD), mainly coarctation of the aorta, were present in 15 of the fetuses with Turner’s and in 1 of the chromosomally normal fetuses. The incidence of CHD was higher in the fetuses with ultrasonographic evidence of moderate/severe hydrops (41%; 13 of 32 cases) than in those with mild or no hydrops (25%; 3 of 12 cases). Although both the biparietal diameter (BPD) and femur length (FL) were reduced in all fetuses, the FL to BPD ratio was below the 5th percentile in 29 of the 33 (88 %) chromosomally abnormal fetuses, but in only 4 of the 11 (36%) chromosomally normal ones. In the chromosomally normal group, 3 of the fetuses had multiple pterygium syndromes, and in such cases the risk of recurrence may be high. In contrast, in the group of mutant chromosomal disorders with monosomy or trisomy, the risk of recurrence is in the order of 1%

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“…The war taking five years increases the child deaths under age of 5 by 13%. Also 47% of all the refugees in the world and 50% of asylum seekers and displaced people are women and girls and 44% refugees and asylum seekers are children under the age of 18 (5). As the result of wars and armed conflicts, women are…”

Section: Mortalities and Morbiditiesmentioning

confidence: 99%

“…Cystic hygroma may regress or progress into generalized hydrops. Even though death is inevitable in several hydropic fetuses, there are reports of complete resolution of hydrops in some cases (4,5). As pregnancy advances, fetal outcome becomes unclear.…”

Section: Women On the Other Side Of War And Poverty: Its Effect On Thmentioning

confidence: 99%