Recurrent fetal cystic hygroma with normal chromosomes: Case report and review of the literature

Teague, Katherine E.; Eggleston, Maurice K.; Muffley, Patrick E.; Gherman, Robert B.

doi:10.1002/1520-6661(200011/12)9:6<366::aid-mfm1010>3.0.co;2-e

Cited by 13 publications

(13 citation statements)

References 17 publications

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“…Although CH was long time treated as a non-inherited disease, presently, it is considered that, in the presence of “normal” karyotypes, familial occurrence has an autosomal recessive transmission [ 5 , 6 , 7 , 9 ]. This hypothesis was not applicable in our case, since the two CHs had distinct karyotypes.…”

Section: ⧉ Discussionmentioning

confidence: 99%

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A unique case of recurrent fetal cystic hygroma: first fetus with an inherited heteromorphism of chromosome 1 (1qh+) and the second fetus with 69XXX triploidy

Tica

Gug

Tica

et al. 2021

Rom J Morphol Embryol

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The authors report a unique recurrent septated cystic hygroma (CH), on two successive pregnancies, at five years interval. The chromosome analysis of the first fetus showed an increase in length of heterochromatin on the long arm of chromosome 1 – 1qh+, a chromosomal polymorphism inherited from mother, 46XX,1qh+,14ps+,21ps+. The karyotype of the second CH, with more severe ultrasound (US) imaging, showed a 69XXX triploidy. The patient took no risk and underwent each time a termination of pregnancy (TOP). The first karyotype is generally considered “normal”, although there are few reports linking 1qh+ with low fertility, but this was not the case, the patient having, from a previous marriage, a healthy boy and two TOPs. So, this “particular”, but “healthy” karyotype was not a cause for the first CH. The second karyotype highlights a possible causality between the 69XXX triploidy, usually associated with partial hydatidiform mole, and a more severe septated CH in the last fetus. Neither the CHs’ appearance nor their recurrence seemed to be family linked, as the two CHs had distinct genetic profiles. We recommend that, once CH is diagnosed, a careful US examination is compulsory for the determination of subcutaneous edema, ascites, pleural and pericardial effusions and cardiac or renal abnormalities; an early genetic work-up is mandatory, by chorionic villus sampling or amniocentesis. However, a “healthy” karyotype does not exclude a severe form, as in our first case of CH. Due to the very poor outcome of fetuses with CH, the patient must be thoroughly informed about the short and the long-term fetal prognosis.

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Section: ⧉ Discussionmentioning

confidence: 99%

“…CHs are not, usually, inherited, although some studies showed familial recurrence, with “normal” karyotypes and raised the hypothesis of an autosomal recessive transmission of the disease [ 5 , 6 , 7 ]. Recurrence of CHs with different karyotypes is rarely observed, only few cases being presented until now [ 8 , 9 ].…”

Section: ⧉ Introductionmentioning

confidence: 99%

A unique case of recurrent fetal cystic hygroma: first fetus with an inherited heteromorphism of chromosome 1 (1qh+) and the second fetus with 69XXX triploidy

Tica

Gug

Tica

et al. 2021

Rom J Morphol Embryol

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“…If fetal CH is diagnosed, the initial work-up procedure should be fetal karyotyping because of the possible association with chromosomal abnormalities. CH associated with a normal karyotype can be inherited as an autosomal recessive trait (5,6). To determine the fetal outcome in cases of CH with normal karyotypes, detailed sonographic examination should be performed to exclude fetal heart defects as well as skeletal, urogenital, and craniofacial anomalies because these might cause severe morbidity (7).…”

Section: Discussionmentioning

confidence: 99%

Recurrent Cystic Hygroma with Normal Karyotype in Two Consecutive Pregnancies

Uysal

Gülümser

Yanık

2016

Gynecol Obstet Reprod Med

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We herein describe a woman with two consecutive pregnancies affected by fetal nuchal cystic hygroma (CH) with a normal karyotype. A 33-year-old woman (gravidity 2, parity 1) was referred to us because of fetal hydrops. No consanguinity or Rh isoimmunization was involved in her current or previous pregnancy. First-trimester ultrasonography revealed nuchal CH, and chorion villus sampling was performed to exclude aneuploidy. In the first pregnancy, the CH had regressed and aortic coarctation was detected by second-trimester fetal echocardiography. In the current pregnancy, the CH had progressed and was complicated by the development of nonimmune hydrops. Termination of the pregnancy was performed at 21 weeks’ gestation. Recurrence of fetal CH in subsequent pregnancies is extremely rare. CH with a normal karyotype can be inherited as an autosomal recessive trait. This report describes a woman with recurrent CH with normal karyotypes and different prognoses

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“…Turner's syndrome is the most common association but other trisomies (13, 18 and 21) have also been reported. The presence of a familial cystic hygroma syndrome has been suggested (Teague et al 2000). Euploid familial cases have a better outcome than aneuploid familial cases.…”

Section: (Medline Search Done Between the Years 1966 -2005)mentioning

confidence: 99%