Prenatal diagnosis of cri du chat (5p‐) syndrome in association with isolated moderate bilateral ventriculomegaly

Abstract

A case of prenatally detected cri du chat syndrome (5p-) is reported. Amniocentesis was performed following an abnormal ultrasound finding of isolated moderate bilateral ventriculomegaly. The karyotype showed a terminal deletion of the short arm of chromosome 5 including the critical region 5p15 for cri du chat syndrome. This was confirmed by fluorescence in situ hybridisation (FISH). Isolated mild ventriculomegaly may be a non-specific marker for cri du chat syndrome.

Prenatal diagnosis of mosaic distal 5p deletion and review of the literature

“…Muller et al (1993) and Fankhauser et al (1998) described an association between the distal 5p deletion and elevated maternal serum human chorionic gonadotrophin. Stefanou et al (2002) presented an association between the distal 5p deletion and elevated maternal serum alphafetoprotein. Weiss et al (2003) reported an association between the distal 5p deletion and low maternal serum human chorionic gonadotrophin.…”

“…Weiss et al (2003) reported an association between the distal 5p deletion and low maternal serum human chorionic gonadotrophin. The reported prenatal sonographic features of the cri-du-chat syndrome include fetal choroid plexus cysts (Sarno et al, 1993;Fankhauser et al, 1998), isolated bilateral ventriculomegaly (Stefanou et al, 2002), nuchal skin edema (Aoki et al, 1999), hydrops fetalis (Tullu et al, 1998;Aoki et al, 1999), bilateral hydronephrosis (Tullu et al, 1998), hypoplastic cerebellum, a large ventricular septal defect, an overriding aorta, short index fingers (Aoki et al, 1999), single umbilical artery, and tetralogy of Fallot (Hutcheon et al, 1998). The frequency of microcephaly in patients with the cri-du-chat syndrome can be as high as 98% (Kousseff, 1990).…”

“…Van Buggenhout et al (2000) suggested that the critical region for microcephaly in the cri-du-chat syndrome is located more proximal to 5p15.31. The reported associated abnormal findings of the central nervous system include choroid plexus cysts (Sarno et al, 1993;Fankhauser et al, 1998), an arachnoid cyst (Balci and Oguz, 2001), hydrocephalus (Schinzel and Tonz, 1979;Forabosco et al, 1988;Balci and Oguz, 2001;Stefanou et al, 2002), and cerebellar abnormalities, such as cerebellar hypoplasia (Tamraz et al, 1993;Aoki et al, 1999) and vermian hypoplasia (De Michele et al, 1993). Tamraz et al (1993) investigated the brain morphometry in seven cases with the cri-du-chat syndrome using magnetic resonance imaging (MRI) and found a small cerebellum, a marked atrophy of brainstem predominantly at the pontine level, and atrophic middle cerebellar peduncles and cerebellar white matter.…”

Presence of chromosomal abnormalities in fetuses with isolated ventriculomegaly on prenatal ultrasound in China

“…We did not observe cases of trisomy 13 and 18, potentially due to the association with trisomy 13 and 18 to multiple malformations, which were excluded in our study. We identified one case of Cri du chat syndrome, which is a rare chromosomal disorder (occurring in 1 in 20,000 to 1 in 50,000 livebirths) that results from a partial deletion of the short arm of chromosome 5 (Stefanou, Hanna, Foakes, Crocker, & Fitchett, ). Prenatal diagnosis of this syndrome in association with abnormal ultrasonographic features has been reported little, among them was one case with moderate bilateral VM as the only abnormal ultrasonographic finding.…”

Prenatalnie zdiagnozowana złożona wrodzona wada serca z zespołem Cri du chat i wieloma przeciwwskazaniami do leczenia kardiochirurgicznego — opis przypadku

“…W badaniu, które objęło 21 chorych z zespołem Cri du chat, u 6 stwierdzono VSD, u 6 -PDA, a u 5 pacjentów -TOF [7]. Wentrikulomegalia nie jest wprawdzie patognomonicznym objawem zespołu Cri du chat, ale związek ten już opisywano w piśmiennictwie [8]. Należy podkreślić, że właśnie ten objaw zainicjował dalszą diagnostykę oraz rozpoznanie złożonej wady serca.…”