Second‐Trimester Diagnosis of Cri du Chat (5p–) Syndrome Following Sonographic Depiction of an Absent Fetal Nasal Bone

Sherer, David M.; Eugene, Pierre; Dalloul, Mudar; Khoury‐Collado, Fady; Abdelmalek, Ehab; Kheyman, Mila; Osho, Joseph A.; Abulafia, Ovadia

doi:10.7863/jum.2006.25.3.387

Cited by 21 publications

(20 citation statements)

References 10 publications

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“…Fetal nasal bone anomaly has been reported to be associated with other rare diseases or syndromes with facial deformities such as Cri du chat (5p-) syndrome, Wolf-Hirschhorn (4p-) syndrome, and Fryns syndrome [1,15,16]. In our study, copy number variation was detected in 9 cases (8.8%), 4 of which were clearly pathogenic, resulting in diseases that also overlapped with the above reports.…”

Section: Discussionsupporting

confidence: 73%

Chromosomal Microarray Analysis of Fetuses with Nasal Bone Anomaly

Xie¹,

Wu²,

Su³

et al. 2020

Preprint

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Objective: To explore the significance and value of fetal nasal bone anomaly (absence or hypoplasia) as indications of prenatal diagnosis.Methods: A total of 102 fetuses diagnosed with nasal bone absence or hypoplasia by ultrasonography underwent chorionic, amniotic, or umbilical cord blood puncture. Single nucleotide polymorphism microarray (SNP-array) was used to analyze fetal chromosomes.Results: Of the 102 fetuses with nasal bone absence or hypoplasia, 25 (24.5%) had chromosomal abnormalities, including 15 cases of trisomy 21, one trisomy 18 case, and 9 cases of other copy number variations. Among the 52 cases with isolated nasal bone absence or hypoplasia, 7(13.5%) had chromosomal abnormalities. In 50 cases, abnormal nasal bone with additional soft markers or structural abnormalities was observed, while 18 cases (36.0%) had chromosomal abnormalities, which were significantly higher than that among the fetuses with isolated nasal bone abnormality.Conclusion: Fetal nasal bone absence or hypoplasia can be used as an indication for prenatal diagnosis. The detection rate of chromosomal abnormalities increases with additional soft markers or structural abnormalities. This study demonstrates that fetal nasal bone absence or hypoplasia is associated with micro-deletions or micro-duplications of chromosomes. Application of single nucleotide polymorphism microarray (SNP-array) technology can reduce the rate of missed prenatal diagnoses.

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Section: Discussionsupporting

confidence: 73%

Chromosomal Microarray Analysis of Fetuses with Nasal Bone Anomaly

Xie¹,

Wu²,

Su³

et al. 2020

Preprint

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“…In addition, we described two first‐trimester ultrasound abnormalities: an absent nasal bone and a prominent renal pelvis in case 4. An absent nasal bone was reported previously in the second trimester in a case of 5p deletion syndrome, and renal abnormalities in another case . Although craniofacial abnormalities have been described after birth, some subtle facial features like low‐set ears in Case 1 and a triangular face in Case 3 were not found on our prenatal ultrasound examinations.…”

Section: Discussionmentioning

confidence: 66%

“…5p deletion syndrome, also known as Cri‐du‐Chat syndrome, is a rare cytogenetic condition, caused by variable size deletions in the short arm of chromosome 5, and is characterized by a high‐pitched cry, craniofacial abnormalities and severe psychomotor retardation. Although second‐trimester ultrasound abnormalities and abnormal maternal serum markers associated with 5p deletion syndrome have been reported, there are no common abnormalities and it is difficult to prenatally identify 5p deletion syndrome …”

Section: Introductionmentioning

confidence: 99%

Prenatal diagnosis of 5p deletion syndrome: Report of five cases

Mak

Teresa

Chan

et al. 2019

J of Obstet and Gynaecol

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It is difficult to prenatally identify 5p deletion (−) syndrome. Here, we report five cases of 5p‐ syndrome diagnosed by invasive prenatal diagnosis. Of them, three had a small cerebellum in the second trimester. In one case, a prominent renal pelvis and an absent nasal bone were also found in the first trimester. However, there were no abnormal ultrasound findings in the other two cases. Two cases had noninvasive prenatal testing and one showed a ‘5p‐ syndrome positive result’ because of reduced amount of cell‐free DNA in 5p. Two had combined first‐trimester screening performed where one had a high‐risk result for trisomy 18 and a low pregnancy‐associated plasma protein‐A level. Two cases of 5p‐ syndrome resulted from a parental balanced translocation. Prenatal diagnosis will only be made on invasive prenatal diagnosis for abnormal ultrasound findings with small cerebellum, abnormal prenatal screening or a parental reciprocal translocation involving 5p.

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“…Because abnormal chromosomal structure can affect the normal division of germ cells, the risk of recurrence of fetal malformations or miscarriages in patients who are pregnant again is still high [22,23]. Although second-trimester ultrasound abnormalities and abnormal maternal serum markers associated with 5p deletion syndrome have been reported [2,[24][25][26][27][28][29][30], there are no common abnormalities and it is difficult to prenatally identify 5p deletion syndrome [29]. In this case, the woman did not have a prenatal diagnosis because the ultrasound showed no abnormalities during the second pregnancy.…”

Section: Discussionmentioning

confidence: 99%

Partial trisomy 4q and monosomy 5p inherited from a maternal translocationt(4;5)(q33;p15) in three adverse pregnancies

Zhang

Zhang²,

Liu³

et al. 2020

Preprint

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Abstract Background Carriers of balanced reciprocal chromosomal translocations are at known reproductive risk for offspring with unbalanced genotypes and resultantly abnormal phenotypes. After fertilization of a balanced translocation carrier with a normal gamete, the partial monomer or partial trisomy embryo will undergo abortion, fetal arrest or fetal malformatio. We reported a woman with balanced translocation who had two adverse pregnancies. Prenatal diagnosis was made for her third pregnancy to provide genetic counseling and guide her fertility. Case presentation Routine G banding was used to analyze the chromosome karyotypes of amniotic fluid, pregnant women and her son in peripheral blood, and then the chromosomal abnormalities were precisely located by CNV-seq detection. The karyotype of the women was 46,XX,t(4;5)(q33;p15). The karyotypethe of the boy was 46,XY,add(5)(p14). CNV-seq was used for further analysis of the structural chromosomal rearrangement in the boy.The results were shown a deletion of short arm of chromosome 5 capturing regions 5p15.33p15.2, a copy gain of the distal region of chromosome 4 at segment 4q32.3q35.2, a duplication of chromosome 1 at segment 1q41q42.11 and a duplication of chromosome 17 at segment 17p12. Amniocentesis was performed at 17 weeks of gestation. Chromosome karyotype hinted 46,XY,add(5)(p14). Further detection of chromosomal aberrations by CNV-seq showed a deletion of short arm (p) of chromosome 5 at the segment 5p15.33p15.2 and a duplication of the distal region of chromosome 4 at segment 4q32.3q35.2. Conclusions Chromosomal abnormalities in three pregnancies were inherited from the mother. Preimplantation genetic diagnosis is recommended to prevent the birth of children with chromosomal abnormalities.

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Second‐Trimester Diagnosis of Cri du Chat (5p–) Syndrome Following Sonographic Depiction of an Absent Fetal Nasal Bone

Cited by 21 publications

References 10 publications

Chromosomal Microarray Analysis of Fetuses with Nasal Bone Anomaly

Chromosomal Microarray Analysis of Fetuses with Nasal Bone Anomaly

Prenatal diagnosis of 5p deletion syndrome: Report of five cases

Partial trisomy 4q and monosomy 5p inherited from a maternal translocationt(4;5)(q33;p15) in three adverse pregnancies

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