Hepatic calcifications in a fetus with trisomy 9 that underwent cordocentesis

Satgé, Daniel; Gasser, Bernard; Geneix, A; Malet, P; Stoll, C

doi:10.1002/pd.1970140411

Cited by 13 publications

(7 citation statements)

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“…Fetal intrahepatic lesions are either of parenchymal or vascular origin. Parenchymal aetiology includes infections (varicella zoster, rubella, echovirus, syphilis, toxoplasmosis), primary tumours (haemangioma, hamartoma, hepatoblastoma), and metastatic tumours (neuroblastoma), whereas portal and hepatic vein thrombi and subcapsular haematoma represent vascular aetiology (Stage et al, 1994;Blanc et al, 1967;Friedman et al, 1981). Whilst in our material colour-coded Doppler examination of the liver lesions did not reveal any blood flow, a vascular origin cannot be ruled out.…”

Section: Discussioncontrasting

confidence: 57%

Fetal intrahepatic hyperechogenic foci: prenatal ultrasound diagnosis and outcome

Koopman

Wladimiroff

1998

Prenat. Diagn.

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Fetal intrahepatic hyperechogenic foci were found in 7 out of 7260 patients (1:1037) referred to our prenatal centre for a fetal anomaly scan because of an increased risk or suspected presence of fetal structural anomalies. The gestational age varied between 20 and 32 weeks (mean 24 weeks). Fetal karyotyping in 3 out of 7 fetuses resulted in one case of trisomy 18. Additional anomalies were diagnosed in both this case and a case of combined hyperechogenic liver foci, encephalocoele, and unilateral renal agenesis. TORCH and Parvo virus screening was only done in one patient and the results were negative. Outcome was normal in five fetuses with isolated intrahepatic lesions. In the presence of fetal intrahepatic hyperechogenic foci, a detailed scan of the entire fetus should be performed. Screening for infections should continue in order to clarify their role in the development of these intrahepatic lesions. Fetal karyotyping is recommended when additional structural anomalies are present. The outcome of fetuses with isolated hyperechogenic liver foci is generally good. © 1998 John Wiley & Sons, Ltd.

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Section: Discussioncontrasting

confidence: 57%

Fetal intrahepatic hyperechogenic foci: prenatal ultrasound diagnosis and outcome

Koopman

Wladimiroff

1998

Prenat. Diagn.

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“…Liver calcification observed in 1/1750 fetuses (6) has been associated with prenatal viral infections, tumor or vascular embolism, hemangiomata, or vascular thrombosis (6). Such calcification has been observed in cases with chromosome abnormalities such as monosomy X, trisomies 9, 13, 18, 21 and partial trisomies 8 and 14 (7)(8)(9)(10)(11)(12). Our patient was investigated for TORCH infections and found to be negative; therefore, the probable cause for the hepatic lesions is vascular insufficiency.…”

Section: Discussionmentioning

confidence: 71%

Intrachromosomal triplications: molecular cytogenetic and clinical studies

Reddy

Logan

2000

Clinical Genetics

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A newborn boy had meconium aspiration syndrome, hypospadias, a supernumerary digit on the left hand, hyperbilirubinemia, a fractured right clavicle, osteopenia, liver calcification, and mild pulmonary hyperplasia. Cytogenetic studies showed a chromosome 13 with additional material in 33% of the metaphases. The add(13) was considered to be a probable duplication of 13q12q22. The 13 paint probe hybridized to the add(13) from end to end. Fluorescence in situ hybridization (FISH) studies using retinoblastoma probe (RB)-1 that maps to 13q14 and D13S585 that maps to 13q32-q33 gave one signal for RB and three signals for D13S585. The pattern of the three signals from the 13q32q33 region and the G-banding pattern was best explained as a triplication of 13q22q33, with an inverted middle repeat resulting in tetrasomy for this segment. Mosaicism was confirmed by FISH using a D13S585 probe on a buccal smear. Three triplications detected in our laboratory were compared 13q22q33, 15q11q13, and 2q11.2q21. FISH was critical in identifying triplications 13q22q33 and 15q11q13. The hybridization pattern also indicated an inverted middle repeat. We conclude that intrachromosomal triplications may be more prevalent than previously assumed and they probably share a common mechanism in their formation. When the G-bands do not correspond exactly to a duplication or to a tandem triplication, an important consideration is that the majority of triplications have an inverted middle repeat. Triplications can be mistaken for duplications. Therefore, in assessing duplications, FISH confirmation is recommended.

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“…Prenatal ultrasound findings in our patient are consistent with the malformation panel observed in complete trisomy 9. Abnormal calcification is a rare feature observed in complete trisomy 9 and has been reported in three fetuses presenting with liver calcification (Raffi et al, 1992;McDuffie et al, 1994, Satge et al, 1994. To our knowledge, only one patient with trisomy 9 has been reported with epiphyseal stippling but this patient presented with a mosaic trisomy 9.…”

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confidence: 69%

Epiphyseal punctate calcifications (stippling) in complete trisomy 9

et al. 2009

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Epiphyseal punctate calcifications (or epiphyseal stippling) are rare nonspecific prenatal features resulting from abnormal calcium deposition in enchondral bone formation sites. This abnormality belongs to a clinically and genetically heterogeneous group named chondrodysplasia punctata (CDP). The various etiologies observed in CDP include inherited errors of metabolism and skeletal dysplasias, anomalies of vitamin K metabolism, maternal autoimmune disorder, rare but well-recognized syndromes, and chromosomal abnormalities (Irving et al., 2008).We report on the prenatal diagnosis of complete trisomy 9 in amniotic fluid sampled following the discovery of epiphyseal punctuations and multiple congenital anomalies on second trimester fetal ultrasound. The diverse etiologies associated with epiphyseal stippling as well as suggestions for prenatal work-up are discussed.Fetal ultrasound at 22 weeks' gestation in a 26year-old G1P0 woman revealed multiple anomalies including brachycephaly, cerebellar vermis agenesis, corpus callosum agenesis, cleft lip and palate, ear anomalies, clenched hands, right renal agenesis, sacral vertebral anomalies and epiphyseal stippling in the hips and knees (Figure 1a).The woman and her husband were unrelated. During the first trimester, nuchal translucency thickness was 1.3 mm for a crown-rump length of 51 mm. Maternal serum screening estimated the Down syndrome risk at 1 : 400. The prospective parents were counseled and adviced that prognosis was poor because of the combination of severe malformations discovered on fetal ultrasound. They requested termination of pregnancy, and labor was induced at 24 weeks' gestation.The parents gave their consent for postmortem examination. The male fetus presented with intrauterine growth retardation (biometric measurements were compatible with 20 weeks' gestation-weight: 572.9 g, length: 32 cm, and OFC: 21.5 cm). He had multiple anomalies including brachycephaly, blepharophimosis, medial cleft lip and palate, micrognathia, hypoglossia, low-set malformed ears, prominent nose, short neck, clenched hands and feet, hypoplastic nails, elbow dislocation and fixed flexion of the hips, imperforate anus, penoscrotal hypoplasia, right renal agenesis and ureteral duplication of the left kidney, linear insertion of the atrioventricular valves without defect, thymic hypoplasia, and adrenal hypoplasia.Skeletal radiographs revealed epiphyseal stippling of the superior and inferior epiphyses of the femora (Figure 1b) and a calcification in the right hypochondria suggestive of a liver calcification. In addition, dislocations of shoulder, ankle, and hip articulations as well as flexion deformities of the joints of the hands were observed. Thirteen rib pairs were also noted. Neuropathologic findings revealed agenesis of the corpus callosum and postero-inferior hypoplasia of the vermis. Sterol quantifications on amniotic fluid obtained during termination of pregnancy were normal. Amniotic fluid culture karyotype revealed trisomy 9 in all 34 metaphases examined. Interphase...

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Hepatic calcifications in a fetus with trisomy 9 that underwent cordocentesis

Cited by 13 publications

References 13 publications

Fetal intrahepatic hyperechogenic foci: prenatal ultrasound diagnosis and outcome

Fetal intrahepatic hyperechogenic foci: prenatal ultrasound diagnosis and outcome

Intrachromosomal triplications: molecular cytogenetic and clinical studies

Epiphyseal punctate calcifications (stippling) in complete trisomy 9

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