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Prenatal ultrasound screening for orofacial clefts.
Ultrasound Obstet Gynecol. 2011 Oct; 38(4):434-9.UO

Abstract

OBJECTIVES

To evaluate the sensitivity and specificity of ultrasound for detecting prenatal facial clefts in low-risk and high-risk populations.

METHODS

This study prospectively followed up a non-selected population, namely all pregnant women who underwent routine second-trimester prenatal ultrasound screening in the Utrecht region during the 2-year period from January 2007 to December 2008.

RESULTS

A total of 35 924 low-risk and 2836 high-risk pregnant women underwent ultrasound screening. Orofacial clefts were present in 62 cases, an incidence of 1:624. The distribution of clefts was as follows: 18 (29%) cleft lip, 25 (40%) cleft lip with cleft palate, 17 (27%) cleft palate only, one median cleft and one atypical cleft. Of these, 38 (61%) were unilateral and 23 (37%) were bilateral. Thirty-nine per cent (24/62) had associated anomalies, with most chromosomal defects found in the cleft lip with cleft palate and cleft palate only groups. Cleft lip with or without cleft palate was detected prenatally in 38/43 cases, a sensitivity of 88%. No case of cleft palate only was detected prenatally. There were three false-positive cases, of which two were fetuses with multiple congenital deformities.

CONCLUSIONS

Ultrasound screening has a high sensitivity for the detection of cleft lip with and without cleft palate in high-risk and low-risk pregnancies in our region, where well-trained sonographers carry out primary screening. The key to a high sensitivity of prenatal ultrasound is likely to be a combination of excellent training of sonographers, referral to specialized centers when a cleft is suspected, routine visualization of the fetal face and advances in ultrasound techniques.

Authors+Show Affiliations

Department of Plastic and Reconstructive Surgery, University Medical Centre Utrecht, Wilhelmina Children's Hospital, Utrecht, The Netherlands. w.i.maarse@gmail.comNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Evaluation Study
Journal Article

Language

eng

PubMed ID

21113916

Citation

Maarse, W, et al. "Prenatal Ultrasound Screening for Orofacial Clefts." Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, vol. 38, no. 4, 2011, pp. 434-9.
Maarse W, Pistorius LR, Van Eeten WK, et al. Prenatal ultrasound screening for orofacial clefts. Ultrasound Obstet Gynecol. 2011;38(4):434-9.
Maarse, W., Pistorius, L. R., Van Eeten, W. K., Breugem, C. C., Kon, M., Van den Boogaard, M. J., & Mink van Der Molen, A. B. (2011). Prenatal ultrasound screening for orofacial clefts. Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 38(4), 434-9. https://doi.org/10.1002/uog.8895
Maarse W, et al. Prenatal Ultrasound Screening for Orofacial Clefts. Ultrasound Obstet Gynecol. 2011;38(4):434-9. PubMed PMID: 21113916.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Prenatal ultrasound screening for orofacial clefts. AU - Maarse,W, AU - Pistorius,L R, AU - Van Eeten,W K, AU - Breugem,C C, AU - Kon,M, AU - Van den Boogaard,M J H, AU - Mink van Der Molen,A B, Y1 - 2011/08/10/ PY - 2010/10/27/accepted PY - 2010/11/30/entrez PY - 2010/11/30/pubmed PY - 2011/12/22/medline SP - 434 EP - 9 JF - Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology JO - Ultrasound Obstet Gynecol VL - 38 IS - 4 N2 - OBJECTIVES: To evaluate the sensitivity and specificity of ultrasound for detecting prenatal facial clefts in low-risk and high-risk populations. METHODS: This study prospectively followed up a non-selected population, namely all pregnant women who underwent routine second-trimester prenatal ultrasound screening in the Utrecht region during the 2-year period from January 2007 to December 2008. RESULTS: A total of 35 924 low-risk and 2836 high-risk pregnant women underwent ultrasound screening. Orofacial clefts were present in 62 cases, an incidence of 1:624. The distribution of clefts was as follows: 18 (29%) cleft lip, 25 (40%) cleft lip with cleft palate, 17 (27%) cleft palate only, one median cleft and one atypical cleft. Of these, 38 (61%) were unilateral and 23 (37%) were bilateral. Thirty-nine per cent (24/62) had associated anomalies, with most chromosomal defects found in the cleft lip with cleft palate and cleft palate only groups. Cleft lip with or without cleft palate was detected prenatally in 38/43 cases, a sensitivity of 88%. No case of cleft palate only was detected prenatally. There were three false-positive cases, of which two were fetuses with multiple congenital deformities. CONCLUSIONS: Ultrasound screening has a high sensitivity for the detection of cleft lip with and without cleft palate in high-risk and low-risk pregnancies in our region, where well-trained sonographers carry out primary screening. The key to a high sensitivity of prenatal ultrasound is likely to be a combination of excellent training of sonographers, referral to specialized centers when a cleft is suspected, routine visualization of the fetal face and advances in ultrasound techniques. SN - 1469-0705 UR - https://www.unboundmedicine.com/medline/citation/21113916/Prenatal_ultrasound_screening_for_orofacial_clefts_ L2 - https://doi.org/10.1002/uog.8895 DB - PRIME DP - Unbound Medicine ER -