Coexistence of urogenital malformations in a female fetus with de novo 15q24 microdeletion and a literature review

Liu, Yaobin; Mapow, Beth

doi:10.1002/mgg3.1265

Cited by 7 publications

(7 citation statements)

References 31 publications

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“…Three known syndromes were involved in our study. Among them, 15q24 Microdeletion Syndrome (#613,406) and 8q21.11 Microdeletion Syndrome (#614,230) were rarely characterized by FGR 25 . As for 22q11.21 microdeletion, which is responsible for DiGeorge Syndrome or Velocardiofacial Syndrome, FGR was frequently reported in FGR with structural malformations 12 , 26 – 28 .…”

Section: Discussionmentioning

confidence: 99%

Etiologic evaluation and pregnancy outcomes of fetal growth restriction (FGR) associated with structural malformations

Wu,

He,

Shen

et al. 2024

Sci Rep

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This study aimed to evaluate the etiology and pregnancy outcomes of fetuses underwent invasive prenatal diagnosis for fetal growth restriction (FGR) accompanied by structural malformations. Data from 130 pregnancies referred for prenatal diagnosis for FGR accompanied by structural malformations were obtained between July 2011 and July 2023. Traditional karyotyping was conducted for all the subjects. A total of 37 (28.5%) cases of chromosomal abnormalities were detected by karyotyping, including 30 cases of numerical anomalies and seven cases of unbalanced structural anomalies. Trisomy 18 was the most common abnormalities, accounting for 51.4%, significantly higher than any other chromosomal abnormality. The cohort was predominantly comprised of early-onset FGR (88.5%) compared to late-onset FGR (11.5%). The incidences of chromosomal abnormalities in this two groups were 29.6% (34/115) and 20.0% (3/15), respectively (p > 0.05). The majority (74.6%, 97/130) of the cohort were affected by a single system malformation, with chromosomal abnormalities found in 19.6% (19/97) of cases. In pregnancies of structural malformations involving two and multiple systems, the frequencies were 56.5% (13/23), and 50.0% (5/10), respectively. Single nucleotide polymorphism array (SNP array) was performed in parallel for 65 cases, revealing additional 7.7% cases of copy number variants (CNVs) compared to karyotyping. Polymerase chain reaction (PCR) was used for detection of cytomegalovirus (CMV) DNA in 92 cases. All fetuses with FGR associated with two or more system malformations were either terminated or stillborn, irrespective of chromosomal aberrations. Conversely, 71.8% of pregnancies with a single-system malformation and normal genetic testing results resulted in live births. Furthermore, two (2.2%) cases tested positive for CMV DNA, leading to one termination and one case of serious developmental disorder after birth. Our study suggests that structural malformations associated with FGR are more likely to affect a single organ system. When multiple systems are involved, the incidence of chromosomal abnormalities and termination rates are notably high. We advocate for the use of CMA and CMV DNA examinations in FGR cases undergo invasive prenatal diagnosis, as these tests can provide valuable insights for etiological exploration and pregnancy management guidance.

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Section: Discussionmentioning

confidence: 99%

Etiologic evaluation and pregnancy outcomes of fetal growth restriction (FGR) associated with structural malformations

Wu,

He,

Shen

et al. 2024

Sci Rep

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“…Microdeletion Syndrome (# 614230) were rarely characterized by FGR 24 . As for 22q11.21 microdeletion, which is responsible for DiGeorge Syndrome, FGR was frequently reported in FGR with structural malformations [25][26][27][28] .…”

Section: Discussionmentioning

confidence: 99%

Etiologic evaluation and pregnancy outcomes of fetal growth restriction (FGR) associated with structural malformations: experience from a tertiary referral center

Wu,

He,

Shen

et al. 2023

Preprint

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This study aimed to evaluate the etiology and pregnancy outcomes of fetuses underwent invasive prenatal diagnosis for fetal growth restriction (FGR) accompanied by structural malformations. Data from 130 pregnancies referred for prenatal diagnosis for FGR accompanied by structural malformations were obtained between July 2011 and July 2023. Traditional karyotyping were conducted for all the subjects. A total of 37 (28.5%) cases of chromosomal abnormalities were detected by karyotyping, including 30 cases of numerical anomalies and 7 cases of unbalanced structural anomalies. Trisomy 18 was the most common abnormalities, accounting for 51.4%, significantly higher than any other chromosomal abnormality. Early-onset and late-onset FGR accounted for 88.5% (115/130) and 11.5% (15/130) of the cohort, and their incidences of chromosomal abnormalities were 29.6% (34/115) and 20.0% (3/15), respectively (p > 0.05). The majority (74.6%, 97/130) of the cohort were affected by a single-system malformation, with chromosomal abnormalities found in 19.6% (19/97) of cases. While in pregnancies of structural malformations involving two and multiple systems, the frequencies were 56.5% (13/23), and 50.0% (5/10), respectively. Single nucleotide polymorphism array (SNP array) was performed in parallel for 65 of them, and it revealed additional 5 (7.7%) cases of copy number variants (CNVs) compared to karyotyping. Polymerase chain reaction (PCR) was used for detection of cytomegalovirus (CMV) DNA in 92 cases. All fetuses with FGR associated with two or more system malformations were either terminated or stillborn, irrespective of chromosomal aberrations. Conversely, 71.8% of pregnancies with a single-system malformation and normal genetic testing results resulted in live births. Additionally, two (2.2%) cases tested positive for CMV DNA, resulting in one termination and one case of serious developmental disorder after birth. Our study suggests that structural malformations associated with FGR are more inclined to affect a single system. When multiple systems are involved, the incidence of chromosomal abnormalities and termination rates are notably high. We strongly recommend utilizing CMA and CMV DNA examinations in cases that necessitate invasive prenatal diagnosis. These tests can provide valuable insights for etiological exploration and guidance in pregnancy management.

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“…In support of this hypothesis, Gu et al [ 23 ] demonstrated that mice with a GJA5 allele deletion exhibited a series of congenital heart defects, including PS. Patients with 15q24 microdeletion syndrome are primarily characterized by intrauterine growth delay, short stature, intellectual disability, microcephaly, and congenital heart defects, among other symptoms [ 24 ]. In this study, the prenatal ultrasound phenotypes of one fetus with 15q24 microdeletion syndrome were consistent with such symptoms, consisting not only of PS but also a ventricular septal defect, fetal growth restriction, and nasal bone dysplasia.…”

Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis of genetic aberrations in fetuses with pulmonary stenosis in southern China: a retrospective analysis

Cai

Guo

et al. 2023

BMC Med Genomics

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Background The genetic etiology of congenital pulmonary stenosis (PS) in fetuses remains inadequately studied. We used karyotype analysis and chromosomal microarray analysis (CMA) to investigate the genetic aberrations associated with PS in human fetuses. Methods A retrospective analysis was performed on 84 fetuses with congenital PS in southern China. Fetal amniotic fluid and umbilical cord blood samples were obtained for chromosomal karyotype analysis and CMA. Results The rate of pathogenic copy number variation (CNV) was 15.5% (13/84) after karyotyping and CMA. An abnormal karyotype was detected in five cases (6.0%, 5/84) via karyotyping, whereas pathogenic CNVs were detected in 13 cases (15.5%, 13/84) via CMA. In addition to the five abnormal karyotypes detected using karyotype analysis, eight additional chromosomal microduplications and microdeletions were detected using CMA, comprising three cases of 22q11.21 microdeletion; two cases of 16p11.2 microdeletion; one case of simultaneous 18q23 microdeletion and 22q13.33 microduplication; one case of 15q24.1q24.2 microdeletion; and one case of 1q21.1q21.2 microduplication. The rate of pathogenic CNV occurrence was 11.5% in fetuses with isolated PS and 17.2% in fetuses with PS combined with other ultrasound abnormalities. This difference between the two experimental groups was statistically significant. Among 84 fetuses with PS, 39 pregnancies were terminated, and five were lost to follow-up. Conclusions CMA was not only conducive to detect PS-related pathogenic genomic abnormalities but also to accurately evaluate fetal prognosis in genetic counseling. The early detection of PS and genomic abnormalities will exerta positive impact on fetal intervention and the related prognosis of PS in perinatal infants.

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Coexistence of urogenital malformations in a female fetus with de novo 15q24 microdeletion and a literature review

Cited by 7 publications

References 31 publications

Etiologic evaluation and pregnancy outcomes of fetal growth restriction (FGR) associated with structural malformations

Etiologic evaluation and pregnancy outcomes of fetal growth restriction (FGR) associated with structural malformations

Etiologic evaluation and pregnancy outcomes of fetal growth restriction (FGR) associated with structural malformations: experience from a tertiary referral center

Prenatal diagnosis of genetic aberrations in fetuses with pulmonary stenosis in southern China: a retrospective analysis

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