X-Linked dominant chondrodysplasia punctata: prenatal diagnosis and autopsy findings

2006 ◽  
Vol 26 (13) ◽  
pp. 1235-1240 ◽  
Author(s):  
Shalini Umranikar ◽  
Phyllis Glanc ◽  
Sheila Unger ◽  
Sarah Keating ◽  
Katherine Fong ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Chondrodysplasia Punctata ◽  
Autopsy Findings

Molecular prenatal diagnosis in a case of an X-linked dominant chondrodysplasia punctata

2003 ◽  
Vol 23 (9) ◽  
pp. 701-704 ◽  
Author(s):  
N. V. Whittock ◽  
L. Izatt ◽  
S. L. Simpson-Dent ◽  
K. Becker ◽  
S. H. Wakelin
Keyword(s):  
Prenatal Diagnosis ◽  
Chondrodysplasia Punctata

Prenatal diagnosis of rhizomelic chondrodysplasia punctata

1988 ◽  
Vol 8 (8) ◽  
pp. 571-576 ◽  
Author(s):  
S. Hoefler ◽  
G. Hoefler ◽  
A. B. Moser ◽  
P. A. Watkins ◽  
W. W. Chen ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Chondrodysplasia Punctata ◽  
Rhizomelic Chondrodysplasia Punctata

Congenital Erythropoietic Porphyria: Prenatal Diagnosis and Autopsy Findings in Two Sibling Fetuses

2001 ◽  
Vol 4 (2) ◽  
pp. 180-184 ◽  
Author(s):  
F. Daïkha-Dahmane ◽  
M. Dommergues ◽  
F. Narcy ◽  
M.C. Gubler ◽  
Y. Dumez ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Amniotic Fluid ◽  
Histological Examination ◽  
Autosomal Recessive ◽  
Dna Analysis ◽  
Autosomal Recessive Disease ◽  
Type I ◽  
Autopsy Findings ◽  
Congenital Erythropoietic Porphyria ◽  
Made In

Congenital erythropoietic porphyria is an autosomal recessive disease characterized by a deficiency of uroporphyrinogen III cosynthetase activity, with diffuse tissue accumulation of specific type I porphyrins. The diagnosis of this disease was made in two fetuses, who were siblings, and from a Caucasian nonconsanguinous family. The first fetus died in utero with hydrops fetalis and anemia, but without an etiopathogenic diagnosis. In the second case, the diagnosis was based on pink fluorescence of the amniotic fluid examined fortuitously in sunlight. DNA analysis showed that the fetus was heteroallelic for the mutation C73R. The autopsy showed brown skin, and at histological examination, porphyrin pigment was deposited in many tissues. Retrospectively, similar deposits were found in the tissues of the first fetus.

scholarly journals Prenatal Diagnosis in a Fetus With X-Linked Recessive Chondrodysplasia Punctata: Identification and Functional Study of a Novel Missense Mutation in ARSE

2021 ◽  
Vol 12 ◽  
Author(s):  
Li Zhang ◽  
Haoran Hu ◽  
Desheng Liang ◽  
Zhuo Li ◽  
Lingqian Wu
Keyword(s):  
Prenatal Diagnosis ◽  
Missense Mutation ◽  
Novel Mutation ◽  
Rare Condition ◽  
Bioinformatic Analysis ◽  
Functional Study ◽  
Chondrodysplasia Punctata ◽  
Enzymatic Assays ◽  
Whole Exome ◽  
Function Loss

X-Linked recessive chondrodysplasia punctata (CDPX1) is a rare skeletal dysplasia characterized by stippled epiphyses, brachytelephalangy, and nasomaxillary hypoplasia. CDPX1 is caused by function loss of arylsulfatase E (ARSE, also known as ARSL). Pathogenic mutations in ARSE are responsible for CDPX1 in newborns or adults; however, studies have not fully explored prenatal cases. In the current study, a novel missense mutation (c.265A > G) in ARSE was identified in a fetus with short limbs using whole-exome sequencing (WES). Bioinformatic analysis showed that the variant was pathogenic, and RT-qPCR, Western blot, and enzymatic assays were performed to further explore pathogenicity of the variant. The findings showed that the variant decreased transcription and protein expression levels and led to loss of enzymatic activity of the protein. The novel mutation c.265A > G in ARSE was thus the genetic cause for the phenotype presented by the fetus. The current study presents a prenatal case in Chinese population using functional analysis of ARSE, which helps the family to predict recurrence risks for future pregnancies and provides more information for understanding this rare condition. The findings show that WES is a feasible method for prenatal diagnosis of fetuses with CDPX1.

Correlation of Prenatal Ultrasound Diagnosis and Pathologic Findings in Fetal Anomalies

1999 ◽  
Vol 2 (2) ◽  
pp. 131-142 ◽  
Author(s):  
Chen-Chih J. Sun ◽  
Kathryn Grumbach ◽  
Donna T. DeCosta ◽  
Carol M. Meyers ◽  
Jeffrey S. Dungan
Keyword(s):  
Prenatal Diagnosis ◽  
False Positive ◽  
Chromosomal Abnormalities ◽  
False Negative ◽  
Prenatal Ultrasound ◽  
Complete Agreement ◽  
Fetal Anomalies ◽  
Autopsy Findings ◽  
Organ Systems ◽  
The Us

This retrospective study compared the prenatal ultrasound (US) diagnosis with autopsy findings in 61 intact fetuses following induced abortion and 36 fragmented fetuses from dilatation and evacuation (D&E). In intact fetuses, complete agreement between US diagnosis and autopsy findings was achieved in 65.6% of cases in the central nervous system (CNS) and 47.5% in other somatic organ systems (SOS). There were major differences between US and autopsy findings involving the CNS in 6.5% of cases and SOS in 27.9%. Correlation was better for evaluation of renal anomalies (complete agreement in 63.6% of 11 suspected cases, 2 false-positive and no false-negative cases) than congenital heart disease (complete agreement in 27.3% of 11 suspected cases, 5 false-positive and 3 false-negative cases). In D&E specimens, a prenatal diagnosis of neural tube defect (NTD) was confirmed in 90% of cases. However, due to fragmentation of fetal parts, the US diagnosis in the CNS could not be confirmed totally (69.4%) or partially (2.8%) in fetuses with chromosomal abnormalities (ChA) or multiple congenital anomalies (MCA). Nonetheless, the US diagnosis of SOS was confirmed in six cases on D&E, including Meckel-Gruber syndrome, cystic hygroma, renal agenesis with contralateral renal dysplasia, cardiac defect, fetal hydrops, and tracheal atresia. Our results show that a thorough autopsy of an intact fetus after abortion is necessary to confirm prenatal diagnosis and allow proper management and counseling. The pathologic examination of D&E specimens can reliably confirm the US diagnosis of NTD, but it is very limited in identifying other fetal anomalies.

Norman-Roberts syndrome: prenatal diagnosis and autopsy findings

2000 ◽  
Vol 20 (6) ◽  
pp. 505-509 ◽  
Author(s):  
Consolato Sergi ◽  
Saida Zoubaa ◽  
Monika Schiesser
Keyword(s):  
Prenatal Diagnosis ◽  
Autopsy Findings ◽  
Roberts Syndrome
Sign in / Sign up

Export Citation Format

Share Document