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Bilateral cleft lip and palate without premaxillary protrusion is associated with lethal aneuploidies.
Ultrasound Obstet Gynecol. 2009 Oct; 34(4):416-8.UO

Abstract

OBJECTIVE

To investigate the clinical implications of two categories of fetal bilateral cleft lip and palate (BCLP): with premaxillary protrusion and with a flattened profile.

METHODS

This was a retrospective study of fetuses with a prenatal diagnosis of BCLP at the Department of Obstetrics and Gynecology of the University of Bologna in the period 1991-2005.

RESULTS

BCLP was diagnosed prenatally in 14 cases (mean gestational age at diagnosis, 21 (range, 12-36) weeks). In nine of these, there was a premaxillary pseudomass; in the remaining five, the profile was flat. Associated structural and/or chromosomal anomalies were found in two of the nine with a premaxillary pseudomass and in all five of those with a flat profile (P = 0.02). All fetuses with a flat profile had aneuploidies (three trisomy 18, one trisomy 13, one trisomy 8 mosaic), as did one of the nine with a premaxillary pseudomass. Eight of the pregnancies were terminated, including three of those with a premaxillary pseudomass and all five of those without. All continuing pregnancies resulted in live births, although one neonate affected by Krabbe's disease died shortly after birth.

CONCLUSIONS

Our findings suggest that a third of cases of BCLP diagnosed in utero have a flat profile and these are at high risk of lethal aneuploidies.

Links

Publisher Full Text (DOI)

Authors+Show Affiliations

Gabrielli S
Department of Obstetrics and Gynecology, Policlinico S. Orsola-Malpighi, University of Bologna, Bologna, Italy. sandro.gabrielli@aosp.bo.it
Piva M
No affiliation info available
Ghi T
No affiliation info available
Perolo A
No affiliation info available
De Santis MS
No affiliation info available
Bevini M
No affiliation info available
Bonasoni P
No affiliation info available
Santini D
No affiliation info available
Rizzo N
No affiliation info available
Pilu G
No affiliation info available

MeSH

Abnormalities, MultipleAneuploidyCleft LipCleft PalateFemaleFetal DiseasesGestational AgeHumansInfant, NewbornMaxillaPregnancyPrognosisRetrospective StudiesUltrasonography, Prenatal

Pub Type(s)

Journal Article

Language

eng

PubMed ID

19697393

Citation

Gabrielli, S, et al. "Bilateral Cleft Lip and Palate Without Premaxillary Protrusion Is Associated With Lethal Aneuploidies." Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, vol. 34, no. 4, 2009, pp. 416-8.
Gabrielli S, Piva M, Ghi T, et al. Bilateral cleft lip and palate without premaxillary protrusion is associated with lethal aneuploidies. Ultrasound Obstet Gynecol. 2009;34(4):416-8.
Gabrielli, S., Piva, M., Ghi, T., Perolo, A., De Santis, M. S., Bevini, M., Bonasoni, P., Santini, D., Rizzo, N., & Pilu, G. (2009). Bilateral cleft lip and palate without premaxillary protrusion is associated with lethal aneuploidies. Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 34(4), 416-8. https://doi.org/10.1002/uog.6451
Gabrielli S, et al. Bilateral Cleft Lip and Palate Without Premaxillary Protrusion Is Associated With Lethal Aneuploidies. Ultrasound Obstet Gynecol. 2009;34(4):416-8. PubMed PMID: 19697393.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Bilateral cleft lip and palate without premaxillary protrusion is associated with lethal aneuploidies. AU - Gabrielli,S, AU - Piva,M, AU - Ghi,T, AU - Perolo,A, AU - De Santis,M S Nobile, AU - Bevini,M, AU - Bonasoni,P, AU - Santini,D, AU - Rizzo,N, AU - Pilu,G, PY - 2009/8/22/entrez PY - 2009/8/22/pubmed PY - 2010/8/25/medline SP - 416 EP - 8 JF - Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology JO - Ultrasound Obstet Gynecol VL - 34 IS - 4 N2 - OBJECTIVE: To investigate the clinical implications of two categories of fetal bilateral cleft lip and palate (BCLP): with premaxillary protrusion and with a flattened profile. METHODS: This was a retrospective study of fetuses with a prenatal diagnosis of BCLP at the Department of Obstetrics and Gynecology of the University of Bologna in the period 1991-2005. RESULTS: BCLP was diagnosed prenatally in 14 cases (mean gestational age at diagnosis, 21 (range, 12-36) weeks). In nine of these, there was a premaxillary pseudomass; in the remaining five, the profile was flat. Associated structural and/or chromosomal anomalies were found in two of the nine with a premaxillary pseudomass and in all five of those with a flat profile (P = 0.02). All fetuses with a flat profile had aneuploidies (three trisomy 18, one trisomy 13, one trisomy 8 mosaic), as did one of the nine with a premaxillary pseudomass. Eight of the pregnancies were terminated, including three of those with a premaxillary pseudomass and all five of those without. All continuing pregnancies resulted in live births, although one neonate affected by Krabbe's disease died shortly after birth. CONCLUSIONS: Our findings suggest that a third of cases of BCLP diagnosed in utero have a flat profile and these are at high risk of lethal aneuploidies. SN - 1469-0705 UR - https://www.unboundmedicine.com/medline/citation/19697393/Bilateral_cleft_lip_and_palate_without_premaxillary_protrusion_is_associated_with_lethal_aneuploidies_ DB - PRIME DP - Unbound Medicine ER -