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

Mak, A.; Teresa, W. L.; Chan, Kelvin Y.K.; Kan, Anita Sik Yau; Tang, May; Leung, Kwok

doi:10.1111/jog.13911

Cited by 11 publications

(17 citation statements)

References 13 publications

(21 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The incidence of CdCS in our cohort was around 0.034% (12/35,233), much higher than the previously reported incidence of 1/50,000–1/15,000 in live births [25]. According to our retrospective analysis, 6/12(50%) of our cases had an isolated 5p terminal deletion, the proportion (54.5%) was lower than that (62.5%) reported by Han et al in eight prenatal cases [20] and greater than that (20%) reported by L. Mark et al [22]. 6/12(50%) of cases characterized by unbalanced translocation, the sex ratio of our CdCS cases was 7/5 (female/male), consistent with the rate of postnatal series by Nguyen, J. M.et al [2].…”

Section: Discussioncontrasting

confidence: 52%

“…These critical region sizes were too small and beyond the G-band’s resolution. Furthermore, some of 5p- syndrome cases might also be missed by conventional cytogenetic analysis alone [22]. Thus, combined CMA with karyotyping could be a definitive method for diagnosis of 5p- syndrome, and it can be expected that more cases of CdCS would be detected since routine clinical use of CMA in prenatal.…”

Section: Discussionmentioning

confidence: 99%

“…In current publications, no specific prenatal ultrasound signs related with CdCS had been proposed since few reports of prenatal diagnosis of CdCS had been published. Presentations such as increased nuchal translucency (NT), prominent glabella, micrognathia, short philtrum, cleft lip/palate, cystic cerebral lesions, abnormal nasal bone or renal hypoplasia and isolated ascites were previously reported in cases of CdCS [9–22]. As CMA is being widely utilized in both postnatal and prenatal diagnosis, the specific prenatal ultrasound signs of CdCS could probably be refined.…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Prenatal diagnosis of cri-du-chat syndrome by SNP array: report of twelve cases and review of the literature

Xie

et al. 2019

Mol Cytogenet

View full text Add to dashboard Cite

BackgroundCri-du-chat syndrome (CdCS; OMIM#123450) is a classic contiguous gene syndrome caused by chromosome 5p terminal deletion (5p-), which characterized by a high-pitched cat-like cry, developmental delay, severe psychomotor, mental retardation, and dysmorphic features in infancy. Prenatal diagnosis of CdCS is difficult due to the non-specific ultrasound features. And reports using array analysis are rare. This study presented the first retrospective analysis of prenatal series of CdCS fetuses diagnosed by single nucleotide polymorphism (SNP) array in China.Case presentationA total of 35,233 pregnant women were enrolled from Jan 2014 to April 2019 in our center, there are twelve 5p- cases with abnormal sonographic signs revealed by SNP array, giving an incidence of 0.034% (12/35,233). Clinical information and molecular basis included: maternal demographics, indications for invasive testing, sonographic findings and SNP array results. Among all the 5p- cases revealed, nine cases were diagnosed by both karyotyping and SNP array, three cases were detected only by SNP array. Half of our cases (6/12) had an isolated 5p terminal deletion, which sizes ranged from 9.0 Mb to 30 Mb. The other half of cases (6/12) characterized by unbalanced translocation, with sex ratio 7:5 (female: male), when combine the clinical features observed from this study and available literature, the most frequent anomaly observed in prenatal ultrasound examination of CdCS was cerebral abnormalities, accounted for 44.4% (16/36) of the existing cases. Features that are less consistent included: choroid plexus cyst (13.8%, 5/36), single umbilical artery (13.3%, 4/30), ventricular septal defect (11.1%, 4/36), hydrops fetalis (8.3%, 3/36), ascites (8.3%, 3/36), increased NT/NF (8.3%, 3/36), absent/severely hypoplastic nasal bone (5.5%, 2/36), in order.ConclusionPrenatal findings such as cerebral abnormalities, absent/hypoplastic nasal bone, hydrops fetalis, ascites or encephalocele may act as suggestive signs of CdCS or other microdeletion/duplication syndromes. Combining typical karyotyping with chromosomal microarray analysis (CMA) is a definitive method for a precise diagnosis of CdCS and provides more accurate results in order to offer genetic counseling to families which need to deal with cryptic aberrations.

show abstract

Section: Discussioncontrasting

confidence: 52%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Prenatal diagnosis of cri-du-chat syndrome by SNP array: report of twelve cases and review of the literature

Xie

et al. 2019

Mol Cytogenet

View full text Add to dashboard Cite

show abstract

“…In addition to triploid and numerical chromosome abnormalities, pathogenic chromosome microdeletion/duplication also leads to poor fetal prognosis. For example, Wolf-Hirschhorn syndrome mostly results in developmental retardation, unusual faces and structural abnormalities, and Miller-Dieker syndrome can be complicated by pachygyria; 22q11.21 microdeletion syndrome often has various degrees of cardiac malformations [ 1 – 6 ]. If pathogenic chromosome microdeletion/duplication can be diagnosed prenatally, the births of children with such severe congenital defects can be avoided.…”

Section: Introductionmentioning

confidence: 99%

Investigation on combined copy number variation sequencing and cytogenetic karyotyping for prenatal diagnosis

Zhang

Tang

et al. 2021

BMC Pregnancy Childbirth

View full text Add to dashboard Cite

Background We aimed to evaluate the clinical value of copy number variation-sequencing (CNV-Seq) in combination with cytogenetic karyotyping in prenatal diagnosis. Methods CNV-Seq and cytogenetic karyotyping were performed in parallel for 9452 prenatal samples for comparison of the diagnostic performance of the two methods, and to evaluate the screening performance of maternal age, maternal serum screening, fetal ultrasound scanning and noninvasive prenatal testing (NIPT) for fetal pathogenic copy number variation (CNV). Results Among the 9452 prenatal samples, traditional karyotyping detected 704 cases (7.5%) of abnormal cytogenetic karyotypes, 171 (1.8%) chromosome polymorphism, 20 (0.2%) subtle structural variations, 74 (0.7%) mutual translocation (possibly balanced), 52 (0.6%) without karyotyping results, and 8431 (89.2%) normal cytogenetic karyotypes. Among the 8705 cases with normal karyotype, polymorphism, mutual translocation, or marker chromosome, CNV-Seq detected 63 cases (0.7%) of pathogenic chromosome microdeletion/duplication. Retrospectively, noninvasive prenatal testing (NIPT) had high sensitivity and specificity for the screening of fetal pathogenic CNV, and NIPT combining with maternal age, maternal serum screening or fetal ultrasound scanning, which improved the screening performance. Conclusion The combined application of cytogenetic karyotyping and CNV-Seq significantly improved the detection rate of fetal pathogenic chromosome microdeletion/duplication. NIPT was recommended for the screening of pathogenic chromosome microdeletion/duplication, and NIPT combining with other screening methods further improved the screening performance for pathogenic fetal CNV.

show abstract

“…While the prenatal detection of cleft lip is high, the detection rate of subtle abnormalities of face such as low-set or posteriorly rotating ear, triangular face, down-slanting palpebral fissures, or a long and marked philtrum remains low [ 14 , 15 ]. These subtle abnormalities may be features of rare but severe genetic disorders such as 5p deletion syndrome or RASopathy, which require chromosome microarray analysis or targeted sequencing for RASopathy genes.…”

Section: High-resolution Ultrasonographymentioning

confidence: 99%

Applications of Advanced Ultrasound Technology in Obstetrics

Leung¹

2021

Diagnostics

View full text Add to dashboard Cite

Over the years, there have been several improvements in ultrasound technologies including high-resolution ultrasonography, linear transducer, radiant flow, three-/four-dimensional (3D/4D) ultrasound, speckle tracking of the fetal heart, and artificial intelligence. The aims of this review are to evaluate the use of these advanced technologies in obstetrics in the midst of new guidelines on and new techniques of obstetric ultrasonography. In particular, whether these technologies can improve the diagnostic capability, functional analysis, workflow, and ergonomics of obstetric ultrasound examinations will be discussed.

show abstract

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

Cited by 11 publications

References 13 publications

Prenatal diagnosis of cri-du-chat syndrome by SNP array: report of twelve cases and review of the literature

Prenatal diagnosis of cri-du-chat syndrome by SNP array: report of twelve cases and review of the literature

Investigation on combined copy number variation sequencing and cytogenetic karyotyping for prenatal diagnosis

Applications of Advanced Ultrasound Technology in Obstetrics

Contact Info

Product

Resources

About