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Antenatal detection of cleft lip with or without cleft palate: incidence of associated chromosomal and structural anomalies.
Ultrasound Obstet Gynecol. 2009 Oct; 34(4):410-5.UO

Abstract

OBJECTIVE

To ascertain how many fetuses with prenatally diagnosed cleft lip with or without cleft palate have associated congenital structural and/or chromosomal abnormalities and whether there is an association with the anatomical type of cleft lip or palate.

METHODS

This was a retrospective review of infants referred to the North-West England Regional Cleft Lip and Palate (CLAP) team between January 2000 and January 2006. Referrals made to the Regional Fetal Management Unit (FMU) in the same time period were investigated to identify the corresponding antenatal ultrasound findings and data on termination of pregnancy and intrauterine fetal death.

RESULTS

Over the 6-year period investigated, 570 infants were referred to the FMU and/or CLAP team. Among these, there were 24 terminations of pregnancy, two intrauterine fetal deaths and one early neonatal death identified. Data on 69 of the 543 patients that survived were incomplete. Of 188 cases with unilateral and 34 cases with bilateral cleft lip +/- palate there were no karyotypical abnormalities without other structural abnormalities. The incidence of associated structural abnormalities varied with the anatomical type of cleft: that of unilateral cleft lip +/- palate was 9.8% (19/194), that of bilateral cleft lip and palate was 25% (11/44) and that of midline cleft lip and palate was 100% (11/11). None of 252 cases with isolated cleft palate was identified antenatally; of these, 5.6% (n = 14) had either karyotypical or associated structural abnormalities and 21.0% (n = 53) had a genetic syndrome as an underlying diagnosis.

CONCLUSIONS

It is essential to tailor the antenatal counseling of patients to the specific scan diagnosis, considering both the anatomical type of cleft and the presence or absence of associated abnormalities. It is inappropriate to offer invasive testing to all patients. The use of three-dimensional ultrasound as an adjunct should be considered in these patients to improve the accuracy of prenatal diagnosis.

Authors+Show Affiliations

Fetal Management Unit, St Marys Hospital, Manchester, UK. joanna.gillham@cmft.nhs.ukNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

19790102

Citation

Gillham, J C., et al. "Antenatal Detection of Cleft Lip With or Without Cleft Palate: Incidence of Associated Chromosomal and Structural Anomalies." Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, vol. 34, no. 4, 2009, pp. 410-5.
Gillham JC, Anand S, Bullen PJ. Antenatal detection of cleft lip with or without cleft palate: incidence of associated chromosomal and structural anomalies. Ultrasound Obstet Gynecol. 2009;34(4):410-5.
Gillham, J. C., Anand, S., & Bullen, P. J. (2009). Antenatal detection of cleft lip with or without cleft palate: incidence of associated chromosomal and structural anomalies. Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 34(4), 410-5. https://doi.org/10.1002/uog.6447
Gillham JC, Anand S, Bullen PJ. Antenatal Detection of Cleft Lip With or Without Cleft Palate: Incidence of Associated Chromosomal and Structural Anomalies. Ultrasound Obstet Gynecol. 2009;34(4):410-5. PubMed PMID: 19790102.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Antenatal detection of cleft lip with or without cleft palate: incidence of associated chromosomal and structural anomalies. AU - Gillham,J C, AU - Anand,S, AU - Bullen,P J, PY - 2009/10/1/entrez PY - 2009/10/1/pubmed PY - 2010/8/25/medline SP - 410 EP - 5 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 ascertain how many fetuses with prenatally diagnosed cleft lip with or without cleft palate have associated congenital structural and/or chromosomal abnormalities and whether there is an association with the anatomical type of cleft lip or palate. METHODS: This was a retrospective review of infants referred to the North-West England Regional Cleft Lip and Palate (CLAP) team between January 2000 and January 2006. Referrals made to the Regional Fetal Management Unit (FMU) in the same time period were investigated to identify the corresponding antenatal ultrasound findings and data on termination of pregnancy and intrauterine fetal death. RESULTS: Over the 6-year period investigated, 570 infants were referred to the FMU and/or CLAP team. Among these, there were 24 terminations of pregnancy, two intrauterine fetal deaths and one early neonatal death identified. Data on 69 of the 543 patients that survived were incomplete. Of 188 cases with unilateral and 34 cases with bilateral cleft lip +/- palate there were no karyotypical abnormalities without other structural abnormalities. The incidence of associated structural abnormalities varied with the anatomical type of cleft: that of unilateral cleft lip +/- palate was 9.8% (19/194), that of bilateral cleft lip and palate was 25% (11/44) and that of midline cleft lip and palate was 100% (11/11). None of 252 cases with isolated cleft palate was identified antenatally; of these, 5.6% (n = 14) had either karyotypical or associated structural abnormalities and 21.0% (n = 53) had a genetic syndrome as an underlying diagnosis. CONCLUSIONS: It is essential to tailor the antenatal counseling of patients to the specific scan diagnosis, considering both the anatomical type of cleft and the presence or absence of associated abnormalities. It is inappropriate to offer invasive testing to all patients. The use of three-dimensional ultrasound as an adjunct should be considered in these patients to improve the accuracy of prenatal diagnosis. SN - 1469-0705 UR - https://www.unboundmedicine.com/medline/citation/19790102/Antenatal_detection_of_cleft_lip_with_or_without_cleft_palate:_incidence_of_associated_chromosomal_and_structural_anomalies_ L2 - https://doi.org/10.1002/uog.6447 DB - PRIME DP - Unbound Medicine ER -