Fetal short femur length in the second trimester and the outcome of pregnancy

Todros, Tullia; Massarenti, I.; Gaglioti, Pietro; Biolcati, Marilisa; Botta, Giovanni; Felice, Claudio De

doi:10.1046/j.1471-0528.2003.00015.x

Cited by 45 publications

(82 citation statements)

References 9 publications

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“…while chromosomal disorders are more frequent (19%, 16/86) [26], therefore aneuploidy studies are always advisable. The interpretation of US finding in non-lethal types is even more difficult.…”

Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis of skeletal dysplasia due to FGFR3 gene mutations: a 9-year experience

Trujillo-Tiebas

Fenollar-Cortés

Lorda‐Sánchez

et al. 2009

J Assist Reprod Genet

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Purpose Prenatal diagnosis with ultrasound findings compatible with skeletal dysplasia due to FGFR3 mutations over a 9 year period in pregnancies and abortuses. Methods 54 samples were studied. Aneuploidy studies were carried out on all samples. By sequencing analysis, we determined mutations for achondroplasia (ACH), hypochondroplasia (HCH), and type I and type II tanathophoric dysplasia (TD). Results 2 chorionic villi samples had a G380R mutation due to a mother with ACH; 4 amniotic fluid samples with TDs in which the foetuses had micromelia plus hypoplastic thoraces; 5 samples from abortuses with TDs. Neither ACH nor HCH occurred in sporadic cases. Conclusions Molecular studies in ongoing pregnancies are indicated in cases with an affected parent, a family history with positive molecular studies (maternal anxiety), and when the US finding demonstrates micromelia with a hypoplastic thorax. A protocol for tissues of abortuses should include an X-ray, pathologic anatomy, and genetic studies.

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Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis of skeletal dysplasia due to FGFR3 gene mutations: a 9-year experience

Trujillo-Tiebas

Fenollar-Cortés

Lorda‐Sánchez

et al. 2009

J Assist Reprod Genet

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“…(O'Brien et al, 1982) In one study, 18 of the 86 fetuses (21%) referred for FL below the 10th percentile had SGA. (Todros et al, 2004) The diagnosis of SGA in fetuses was confirmed about 9 weeks after the initial finding of short FL. In another study short FL was associated with low birth weight and SGA, but not with gestational hypertension.…”

Section: Femur Length and Intrauterine Growth Restrictionmentioning

confidence: 92%

“…(Papp et al,2006) Todros et al evaluated the outcome of pregnancy in 86 fetuses diagnosed with short FL in the second trimester ultrasonography scanning. (Todros et al, 2004) Twenty-eight of the fetuses (32.5%) were normal, 40 (46.5%) were structurally abnormal and 18 (21%) were small for gestational age. Of the 40 malformed fetuses, 16 (40%) were aneuploid.…”

Section: Femur Length and Aneuplodiesmentioning

confidence: 98%

“…In one study 50% of the women developed preeclampsia while undergoing follow-up for short FL and IUGR. (Todros et al, 2004) The association between short FL and IUGR is unclear. It might be explained by the brain sparing effect with decreased flow to the lower body.…”

Section: Femur Length and Intrauterine Growth Restrictionmentioning

confidence: 99%

“…(Todros et al, 2004;Papageorghiou et al, 2008) In contrast, severely shortened (<5th percentile) or abnormal appearing long bones may be a sign of a skeletal dysplasia or early onset fetal growth restriction. (Weisz et al, 2008) Counselling should be given to cases with isolated short FL; however a more conservative approach is more appropriate.…”

Section: Management Of Short Femur Lengthmentioning

confidence: 99%

See 2 more Smart Citations

Prenatal Evaluation of Fetuses Presenting with Short Femurs

Uğurlucan¹,

Kayserili²,

Yüksel³

2012

Prenatal Diagnosis - Morphology Scan and Invasive Methods

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FGFR3 related skeletal dysplasias diagnosed prenatally by ultrasonography and molecular analysis: Presentation of 17 cases

Hatzaki¹,

Sifakis

Apostolopoulou³

et al. 2011

American J of Med Genetics Pt A

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Fibroblast Growth Factor Receptor 3 (FGFR3) related skeletal dysplasias are caused by mutations in the FGFR3 gene that result in increased activation of the receptors causing alterations in the process of endochondral ossification in all long bones, and include achondroplasia, hypochondroplasia, thanatophoric dysplasia, and SADDAN. Reports of prenatal diagnosis of FGFR3 related skeletal dysplasias are not rare; however, the correlation between 2nd trimester ultrasonographic findings and underlying molecular defect in these cases is relatively poor. There is a need for specific ultrasound (U/S) predictors than can distinguish lethal from non-lethal cases and aid an earlier prenatal diagnosis. Here we present one familial and 16 sporadic cases with FGFR3 related skeletal dysplasia, and we evaluate biometric parameters and U/S findings consistent with the diagnosis of skeletal dysplasia. U/S scan performed even at the 18th week of gestation can indicate a decreased rate of development of the femora (femur length (FL) <5th centile), while the mean gestational age at diagnosis is still around the 26th week. The utility of other biometric parameters and ratios is discussed (foot length, BPD, HC, FL/foot, and FL/AC). Prenatal cytogenetic and molecular genetic analyses were performed. A final diagnosis was reached by molecular analysis. In two cases of discontinued pregnancy, fetal autopsy led to a phenotypic diagnosis and confirmed the prenatal prediction of lethality. We conclude that the combination of U/S and molecular genetic approach is helpful for establishing an accurate diagnosis of FGFR3-related skeletal dysplasias in utero and subsequently for appropriate genetic counselling and perinatal management.

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Fetal short femur length in the second trimester and the outcome of pregnancy

Cited by 45 publications

References 9 publications

Prenatal diagnosis of skeletal dysplasia due to FGFR3 gene mutations: a 9-year experience

Prenatal diagnosis of skeletal dysplasia due to FGFR3 gene mutations: a 9-year experience

Prenatal Evaluation of Fetuses Presenting with Short Femurs

FGFR3 related skeletal dysplasias diagnosed prenatally by ultrasonography and molecular analysis: Presentation of 17 cases

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