Risk for chromosomal aberrations in apparently isolated intrauterine growth restriction: A systematic review

Sagi‐Dain, Lena; Peleg, Amir; Sagi, Shlomi

doi:10.1002/pd.5160

Cited by 22 publications

(18 citation statements)

References 29 publications

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“…While gestalt plays an important role in both fetal and pediatric dysmorphology, an emphasis on a systematic approach and not rapid diagnosis should be emphasized . Ultrasound documentation protocols by body system and inclusive of amniotic fluid and fetal weight are encouraged . A second analysis focused on subtle, minor findings also should be systematic, referencing normal fetal measurements as needed (Table ) .…”

Section: Discussionmentioning

confidence: 99%

“…16 Ultrasound documentation protocols by body system and inclusive of amniotic fluid and fetal weight are encouraged. [17][18][19] A second analysis focused on subtle, minor findings also should be systematic, referencing normal fetal measurements as needed (Table 1). [21][22][23][24][25] Minor features entered verbatim can now be retrieved by artificial intelligence software searches of electronic medical records.…”

Section: Casementioning

confidence: 99%

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Fetal phenotypes emerge as genetic technologies become robust

et al. 2019

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Prenatal genomic evaluation of the fetus is available at decreasing cost and with a faster turnaround time. However, fetal genotype‐phenotype correlations are in their infancy. By comparison, pediatric and adult genotype‐phenotype databases are well established and publicly accessible. A similar system for fetal genomics is lacking. When a fetal anomaly is identified by ultrasound imaging, a genetic diagnosis provides important information. However, fetal prognostic counseling is problematic if the only available information is based on outcomes following postnatal diagnoses. The same conditions identified prenatally may have more benign or more deleterious outcomes. Also, the condition may evolve over the pregnancy itself. As genomic testing increasingly examines fetal DNA at a single nucleotide level, the concomitant in utero phenotype deserves equal attention. Often, the reports of fetal phenotype are limited. Among sonologists, an increased awareness of attaining and communicating detailed fetal phenotypes is needed. The interpretation of expanded prenatal sequencing is reliant on deeper fetal phenotyping. The information gained significantly impacts clinical care and understanding of fetal development. This case series highlights: the broad spectrum of fetal phenotypes for known genetic conditions, phenotype progression during pregnancy, and the need to supplement systematic imaging with descriptive details when assessing fetuses with malformations.

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Section: Discussionmentioning

confidence: 99%

Section: Casementioning

confidence: 99%

Fetal phenotypes emerge as genetic technologies become robust

et al. 2019

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“…[31][32][33] Chromosomal abnormalities have been suggested to contribute to up to 5% of FGR cases; triploidy and trisomy 13 and 18 are important considerations in early-onset FGR and the risk of many aneuploidies is higher in the presence of structural fetal anomalies. [34][35][36] In 1%-6% of cases of FGR with normal karyotype, submicroscopic (micro) duplications/deletions can be found using chromosomal microarray analysis, 35 even when FGR is an apparently isolated finding. 37 FGR is also more prevalent in fetuses with structural malformations, and the risk increases when multiple anomalies are present.…”

Section: Etiology Of Fetal Growth Restrictionmentioning

confidence: 99%

FIGO (International Federation of Gynecology and Obstetrics) initiative on fetal growth: Best practice advice for screening, diagnosis, and management of fetal growth restriction

Melamed

Baschat

Yinon

et al. 2021

Intl J Gynecology & Obste

283

218

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“…Chromosomal anomalies were reported to account for up to 19% of fetuses with FGR , with triploidies being the most common anomaly in fetuses below 26 weeks, and trisomy 18 above 26 weeks (Table ). In apparently isolated FGR fetuses at any gestational age (10 to 39 weeks), a recent systematic review by Sagi‐Dain et al (2017) including 14 studies, found a 6.4% (47/874) chromosomal abnormality rate. Nevertheless, all the included studies were retrospective and the quality of evidence of these selected manuscripts was defined as low in all except one study.…”

Section: Chromosomal Abnormalitiesmentioning

confidence: 99%

Genetic syndromes associated with isolated fetal growth restriction

2020

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Early onset fetal growth restriction (FGR) may be due to impaired placentation, environmental or toxic exposure, congenital infections or genetic abnormalities. Remarkable research, mainly based on retrospective series, has been published on the diverse genetic causes. Those have become more and more relevant with the improvement in the accuracy of the analysis techniques and the rising of breakthrough genomewide methods such as the whole genome sequencing. However, no publication has presented an integrated view of management of those fetuses with an early and severe affection. In this review, we explored to which extent genetic syndromes can cause FGR fetuses without structural defects. The most common chromosomal abnormalities (Triploidies and Trisomy 18), submicroscopic chromosomal anomalies (22q11.2 microduplication syndrome) and single gene disorders (often associated with mild ultrasound findings) related to early and severe FGR had been analysed. Finally, we addressed the impact of epigenetic marks on fetal growth, a matter of growing importance. At the end of this review, we should be able to provide an adequate counseling to parents in terms of diagnosis, prognosis and management of those pregnancies.

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Risk for chromosomal aberrations in apparently isolated intrauterine growth restriction: A systematic review

Abstract: Due to a limited number of cases and insufficient quality of evidence, high-quality well standardized case-controlled trials should be conducted, further exploring the risk for chromosomal aberrations in pregnancies with isolated IUGR.

Cited by 22 publications

References 29 publications

Fetal phenotypes emerge as genetic technologies become robust

Fetal phenotypes emerge as genetic technologies become robust

FIGO (International Federation of Gynecology and Obstetrics) initiative on fetal growth: Best practice advice for screening, diagnosis, and management of fetal growth restriction

Genetic syndromes associated with isolated fetal growth restriction

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