Eleven pairs of ribs in trisomy 18

Ho, Nai Kiong

doi:10.1016/s0022-3476(89)80165-9

Cited by 3 publications

(5 citation statements)

References 2 publications

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“…To the best of our knowledge, our data represent the largest and most varied series of aneuploidy fetuses with cervical ribs reported to date. The few studies focusing on the axial skeleton of stillborns with chromosomal disorders, including trisomy 13, 18, and 21, showed different and somewhat characteristic malformations in diverse segments of the axial skeleton for each of those genotypes, such as vertical clefting of the vertebral bodies in the lumbosacral region in trisomy 13 [25], 11 pairs of ribs in trisomy 18 [26], and cervical malformations in trisomy 21 [27]. Cervical ribs have been reported only sporadically in fetuses with autosomal trisomies [11,28].…”

Section: Discussionmentioning

confidence: 99%

Cervical Ribs Are More Prevalent in Stillborn Fetuses than in Live-Born Infants and Are Strongly Associated with Fetal Aneuploidy

et al. 2011

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This study was undertaken to determine the prevalence of cervical ribs in stillborn fetuses undergoing autopsy at our institution and to search for significant associations with cervical ribs. European studies have reported an increased prevalence of cervical ribs in patients with childhood cancer and in stillborn fetuses. We reviewed data from autopsies performed at Primary Children's Medical Center, Utah, between 2006 and 2009 on 225 stillborns (≥20 weeks) and 93 deceased live-born infants (<1 year). Digital fetal radiographs in anterior-posterior and lateral views had been taken of each subject. Chi-square analysis and general linear models were used for statistical analysis of the data. The overall prevalence of cervical ribs was higher in stillborns than in live-borns who died in the first year (43.1% vs 11.8%). Karyotypes were available for 93 (41.3%) of the stillborns. Of those, cervical ribs were present in 33 of 76 (43.4%) stillborns with normal karyotype and in 13 of 17 (76.4%) stillborns with aneuploidy. Females with unavailable karyotypes were more likely to have cervical ribs than those with normal karyotypes (P = 0.0002). This greater likelihood was not observed in males. Among the stillborns with normal karyotypes, we found no statistically significant association with gender or gestational age at fetal death. There was also no statistically significant association between congenital anomalies and the presence of cervical ribs. Our findings support the hypothesis that cervical ribs are markers for disadvantageous developmental events occurring during blastogenesis and have been subject to strong negative selection during evolution.

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Section: Discussionmentioning

confidence: 99%

Cervical Ribs Are More Prevalent in Stillborn Fetuses than in Live-Born Infants and Are Strongly Associated with Fetal Aneuploidy

et al. 2011

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“…The significance of isolated abnormal number of ribs is under debate. Most publications are case reports1–4, 6–9 and reviews5, 15–17, and most of these studies do not associate isolated number of ribs with adverse outcome. However, some case reports have demonstrated a relationship with aneuploidies such as monosomy X and trisomy 217, 9.…”

Section: Discussionmentioning

confidence: 99%

“…Rib abnormalities are diverse and include bifid ribs, abnormal width of ribs, cervical ribs, short ribs, abnormal number of ribs, unusual ossification and fractures5. Various associations have been reported, including trisomy 18 with 11 pairs of ribs6, monosomy X in fetal hydrops with cervical rib7, trisomy 9 with 13 pairs of ribs8 and trisomy 21 with unilateral agenesis of the 12 th rib9. However, while abnormal ribs are often part of a congenital bone disorder or other syndromes1–4, 6–9, isolated rib abnormalities such as cervical ribs and abnormal number of ribs can occur.…”

Section: Introductionmentioning

confidence: 99%

“…Various associations have been reported, including trisomy 18 with 11 pairs of ribs6, monosomy X in fetal hydrops with cervical rib7, trisomy 9 with 13 pairs of ribs8 and trisomy 21 with unilateral agenesis of the 12 th rib9. However, while abnormal ribs are often part of a congenital bone disorder or other syndromes1–4, 6–9, isolated rib abnormalities such as cervical ribs and abnormal number of ribs can occur. Since prenatal scanning of the ribs is performed mainly when associated anomalies are found10–12, isolated rib abnormalities may be missed.…”

Section: Introductionmentioning

confidence: 99%

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Prenatal diagnosis of isolated abnormal number of ribs

Hershkovitz

2008

Ultrasound in Obstet & Gyne

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“…Associations of aneuploidies or genetic syndromes with fetal rib number anomalies have been reported (Table 2) [21][22][23][24][25][26][27][28][29][30] . Around one-third of newborns with Down syndrome have 11 pairs of ribs on radiographs, and the incidence was six times higher than in those without aneuploidies 21 .…”

Section: Figure Volume Contrast Ultrasonographic Images Demonstrating...mentioning

confidence: 99%

Ultrasonographic screening for fetal rib number anomalies

2020

Hong Kong Journal of Gynaecology, Obstetrics and Midwifery

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Objective: To determine associations between fetal rib number anomalies detected on ultrasonography and chromosomal anomalies and other structural anomalies, and the outcome of affected pregnancies. Methods: All cases of fetal rib number anomalies referred to the Prenatal Diagnosis Clinic of Queen Elizabeth Hospital between 1 January 2016 and 31 December 2019 were reviewed. Fetal ribs were examined by static threedimensional multiplanar or volume contrast ultrasonography. Genetic counselling was offered. The prenatal and postnatal records were reviewed. Results: 21 fetuses with rib number anomalies were identified over 4 years. The most common presentation was unilateral or bilateral absence of the 12th thoracic rib (n=12, 57.1%), followed by the presence of lumbar rib (n=6, 28.6%) and the presence of cervical rib (n=3, 14.3%). Three (14.3%) fetuses were identified to have anomalies in other systems: unilateral absence of nasal bone (n=1) and minor vascular anomalies (n=2). One patient with multiple anomalies of the fetus underwent amniocentesis, and the chromosomal microarray analysis was normal. Postnatally, 13 babies had chest radiographs taken. Two were confirmed to have normal number of ribs. Prenatal and postnatal findings were consistent in 6 (46.2%) babies. Conclusion: Fetal rib number anomalies were an isolated finding in most cases. The prognosis is good in the absence of other major anomalies. The accuracy of prenatal ultrasonography appears to be low. These findings do not support routine counting of fetal rib number in second-trimester ultrasonography.

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Eleven pairs of ribs in trisomy 18

Cited by 3 publications

References 2 publications

Cervical Ribs Are More Prevalent in Stillborn Fetuses than in Live-Born Infants and Are Strongly Associated with Fetal Aneuploidy

Cervical Ribs Are More Prevalent in Stillborn Fetuses than in Live-Born Infants and Are Strongly Associated with Fetal Aneuploidy

Prenatal diagnosis of isolated abnormal number of ribs

Ultrasonographic screening for fetal rib number anomalies

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