Chorionic villus sampling after first trimester diagnosis of fetal cystic hygroma colli.

Diagnostic findings of four cases of cystic hygroma discovered at 11 weeks of gestation are reported. The discovery of cystic hygroma by echotomography was followed by sample taking of chorionic villi which revealed one case of monosomy X and three cases of trisomy 18. Caryotype determination in the presence of cystic hydroma is essential for diagnostic confirmation and subsequent genetic counselling.

Cystic hygroma colli as the first echographic sign of the fetal akinesia sequence.

We report first trimester cystic hygroma colli with subsequent resolution and development of a fetal akinesia deformation sequence. Neuropathological examination of the brain showed intra- and extracellular white matter edema while spinal cord, peripheral nerves and muscles were normal. Hygroma colli as the first echographic sign of subsequent severe fetal akinesia sequence without muscular dystrophy as seen in the Lethal Multiple Pterygium syndrome has not been previously reported.

Antenatally diagnosed hygroma colli.

A case of prenatally diagnosed hygroma colli is presented. Prenatal diagnosis, characteristic ultrasonic signs as well as problems of differential diagnosis are discussed. The importance of non-elective routine ultrasound screening in the early detection of fetal congenital malformations is emphasized.

Ear dysmorphism associated with cystic hygroma colli in second-trimester fetuses.

To investigate if fetuses with cystic hygroma colli have ear article dysmorphism, we studied 16 fetuses with cystic hygroma colli, all of which had 45,X karyotype, and 107 normal fetuses. All the specimens were second-trimester formalin-preserved human fetuses. The ear lengths and widths were measured and ear indices (length/width) calculated. There were no significant differences in the ear measurements of age-matched normal male and female fetuses (P > .05). Ear growth was less linear in the cystic hygroma colli group than in the normal fetuses; Pearson's coefficient .45 vs. .87 for ear length, and r = .77 vs. .88 for ear width. The mean (+/- SD) ear index of the normal fetuses was 1.56 +/- 0.22 compared to 2.10 +/- 0.36 of the cystic hygroma colli fetuses, P < .001. The ear dysmorphism (> 2 SD of gestational age norm) was observed in 6.3% (1/16) of the ear widths, 56.3% (9/16) of the ear lengths, and 62.5% (10/16) of the ear indices. We conclude that cystic hygroma colli fetuses with 45,X have unique ear auricle morphology.

Fetal cystic hygroma colli: antenatal diagnosis, significance, and management.

Twenty-four cases of fetal cystic hygroma colli were diagnosed by ultrasound. In two patients, the diagnosis was not confirmed at autopsy. Ten of these were cases of Turner's syndrome, one was a case of Turner's mosaicism, three had other aneuploidies, four had normal chromosomes, and six had a failed chromosome culture. The diagnosis, management, and future counseling of these patients are discussed.

Early sonographic diagnosis of fetal cystic hygroma colli.

Fetal cystic hygroma colli (FCHC) is a congenital malformation of the lymphatic system which develops as a result of failure of the communication between the jugular lymphatic canal and the internal jugular vein. The diagnosis is usually made by ultrasound in the second trimester of pregnancy by the demonstration of a multiseptate, thin-walled cystic mass appearing posterolaterally in position to the fetal head and neck region. In this report we present two cases of FCHC diagnosed by transabdominal ultrasound in the first trimester of pregnancy. In one case, chorionic villus sampling revealed a 45,X karyotype, the fetus became progressively hydropic and died at 15 1/2 weeks. In the other, the spontaneous resolution of a nonseptated FCHC in a fetus with normal karyotype was documented, resulting in the delivery of a healthy infant a term. Fetal karyotyping, a careful search for other anomalies that may affect fetal survival, and a close sonographic follow-up in cases of FCHC are advocated for an accurate diagnosis and genetic counselling.

Rate of chromosomal aberrations in prenatally detected hydrops fetalis and hygroma colli.

Chromosome analyses were carried out in a series of 775 fetuses with morphological abnormalities diagnosed by ultrasound. Among these cases, 57 demonstrated non-immune hydrops fetalis with hygroma colli (group 1) and a further 116 non-immune hydrops fetalis without hygroma colli (group 2). Different chromosome abnormalities were found in 54.5% of cases of group 1 where chromosome analyses could be performed, and in 27.6% of cases of group 2. The most common aberrations were monosomy X and trisomy 21.

[Hygroma colli (cervical neck edema) as an ultrasonographic parameter of fetal chromosome anomalies]. / Das Hygroma colli (Nackenödem) als ultrasonographischer Parameter fetaler Chromosomenanomalien.

A two year retrospective study of 57 women with fetal hygroma colli between 2 and 15 mm was carried out at the University Women Hospital in Heidelberg. In this study maternal age, week of gestation, thickness of the nuchal oedema and the genetic results of amniocentesis were documented. Chromosomal abnormalities were found in 20 cases (35%), monosomy X in eleven, trisomy 21 in five and trisomy 18 in four. No connection between an individual syndrome and a particular week of gestation could be found. An increase of the thickness of the nuchal oedema showed a significant correlation to the incidence of aneuploidies. Chromosomal abnormalities were not observed in cases of less than 3 mm thickness (0/5). Between 3 and 4.9 mm one abnormal karyotype (4 mm) was found (1/18) whereas in the group of 5-6.9 mm approximately one third (6/15) of all fetuses showed chromosomal abnormalities. Aneuploid karyotypes were found in two thirds of cases (14/20) with a fetal nuchal translucency of 7 mm and more. Surprisingly, a correlation between maternal age and incidence of fetal chromosomal abnormality could be seen, but it was not significant. While a chromosomal aberration could be connected to age in 50% of mothers under the age of 25 and over 34, only a third of women aged 25-29 and only one fifth aged 30-34 showed chromosomal abnormalities in combination with hygroma colli. Our results confirm the recommendation of previous studies for extensive ultrasound examination during the first and second trimester in order to improve early detection of fetal chromosomal abnormalities particularly in women not normally covered by the age-related indication for amniocentesis.

Prenatal diagnosis of de novo distal 5q duplication associated with hygroma colli, fetal oedema and complex cardiopathy.

We report the first prenatal diagnosis of de novo distal 5q duplication after the echographic findings of hygroma colli and complex cardiopathy in a female fetus of 16 weeks' gestation. Cytogenetic studies on amniocytes showed a de novo inverted distal 5q duplication: karyotype: 46,XX, inv dup(5) (pter-->q3.53::q3.53-q3.33::q3.53-->qter). Based on the findings in the literature, a review of the malformative syndrome associated with partial distal 5q trisomy is given.

[Sonographic detection of hygroma colli in the fetus]. / Sonographischer Nachweis des Hygroma colli beim Fetus.

Foetal cystic hygroma is a congenital malformation of the lymphatic systems. Ten cases of foetal cystic hygroma were diagnosed prenatally during the second trimester, in a period of two years, at Ultrasound Unit of the Department of Obstetrics and Gynaecology of the University of Mainz, West Germany. Six foetuses had Turner's syndrome, one had a 47 X + 21 karyotype, two foetuses were cytogenetically normal and in one case tue chromosome cultures failed. Sonographic findings are demonstrated and compared to autopsy results. In addition, clinical management of foetuses with cystic hygroma are discussed.

[Hygroma colli in the ultrasound image as an early indication of fetal Ullrich-Turner syndrome]. / Hygroma colli im Ultraschallbild als früher Hinweis eines fetalen Ullrich-Turner-Syndroms.

Fetal chromosomal anomalies are frequently associated with malformations of the lymphatic system, which occur with a wide variability as local edema or generalized hydrops of the fetus. From January 1, 1988 to December 31, 1989 chromosomal analysis were performed in two patients, because ultrasound examination revealed large cystic septated sacs in the nuchal area and severe fetal edema. In both cases the diagnosis was: Turner's syndrome XO. As in more than a half of all cases with nuchal hygromes in ultrasound Turner's syndrome and furthermore in 25% other chromosomal anomalies are found, the value of early and subtle ultrasound examination is to be emphasized. In every case with a sonographic suspicion of an abnormal nuchal area of the fetus, specific prenatal diagnostic investigations should be performed, because of the rare, but possible event of involution of fetal cystic hygroma in ultrasound.

Cystic hygroma colli: perinatal outcome after prenatal diagnosis.

Prenatally diagnosed cystic hygroma colli is associated with Turner syndrome, but has been reported with a variety of other conditions. The association with abnormal karyotypes frequently results in a decision to terminate the pregnancy. Information on the natural history of this malformation is thus limited. We reviewed 34 cases of cystic hygroma colli which were diagnosed by ultrasound at a mean gestational age of 17.3 +/- 3.4 weeks. Pregnancy outcome was known for 31 of these cases. The distribution of fetal karyotypes, available for 23 fetuses, was similar to that reported in other series. Only two fetuses, both with an abnormal karyotype, were liveborn at term. Fourteen pregnancies were electively terminated while the remaining 15 cases resulted in spontaneous pregnancy loss. Twenty-six fetuses underwent necropsy which generally confirmed the prenatal ultrasound findings. However, in 9 cases associated anomalies had been missed by the sonogram. Only one fetus with associated anomalies survived to term. Hydrops was common and occurred in most of the spontaneous losses. This series suggests that the prenatal finding of cystic hygroma colli portends an extremely poor prognosis regardless of the karyotype or the presence or nature of associated anomalies. We confirm that karyotypes other than monosomy X are common and that perinatal survival is highly unlikely, especially in the presence of hydrops fetalis.

[Hygroma colli--sonographic indication of fetal chromosome abnormality. A case report]. / Hygroma colli--Sonographischer Hinweis für eine fetale Chromosomenanomalie. Eine Falldarstellung.

Transvaginal sonography has been developed as an useful tool to recognize and define structural defects in the first trimester fetus. Fetal cystic hygromas as an manifestation of malformation of the lymphatic system are often the only sign of an severe fetal anomaly. In 70-80% of cases cystic hygroma is associated with a Turner-Syndrome (45,XO). We report a case in which transvaginal sonography has been the only instrumental in the prenatal diagnosis of a nuchal cystic hygroma. Based on this sonographic finding the pregnancy has been terminated. We point to the value of early and subtle ultrasound examination as an excellent method in finding hints for chromosome abnormalities.