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唇裂和/或腭裂:产前诊断准确性、产后病程及长期预后

Cleft Lip and/or Cleft Palate: Prenatal Accuracy, Postnatal Course, and Long-Term Outcomes.

作者信息

Farladansky-Gershnabel Sivan, Gluska Hadar, Halevi Nufar, Kotser Neta, Sharon-Weiner Maya, Schreiber Hanoch, Sukenik-Halevi Rivka, Ebner Yaniv, Arnon Shmuel, Markovitch Ofer

机构信息

Department of Obstetrics and Gynecology, Meir Medical Center, Kfar Saba 4428163, Israel.

Sackler School of Medicine, Tel Aviv University, Tel Aviv 6329302, Israel.

出版信息

Children (Basel). 2022 Nov 30;9(12):1880. doi: 10.3390/children9121880.

Abstract

Orofacial clefts include cleft lip (CL) and cleft palate (CP). This retrospective study assessed the efficacy of prenatal sonographic diagnosis of isolated and non-isolated cases of CL/CP and the postnatal outcomes of these children. Data regarding patients diagnosed and treated in the tertiary orofacial clinic from 2000 to 2020 were retrieved from electronic medical records and telephone-based questionnaires. Isolated CL was found in 7 cases (7.2%), isolated CP in 51 (53%), and combined CL/CP in 38 (39.5%), and 22 cases (23%) were associated with other anomalies. Among 96 cases, 39 (40.6%) were diagnosed prenatally. Isolated CL was diagnosed in 5/7 (71.5%), combined clefts in 29/38 (76.3%), and CP in 7/51 (13.8%). Prenatal chromosomal analysis performed in 32/39 (82%) cases was normal for all. The rate of surgical intervention in the first year of life was 36/38 (94.7%) for combined clefts, 5/7 (71.4%) for CL, and 20/51 (39%) for isolated CP. Most children had speech therapy (23/38 (60.5%), 3/7 (42.8%), and 41/51 (80.3%), respectively) and psychotherapy (6/38 (15.7%), 3/7 (42.8%) and, 15/51 (29.4%), respectively). The accuracy rate of sonographic prenatal diagnosis is low. Our results emphasize the suggested work-up of fetuses with CL and/or CP and improvements to parental counseling, as well as their understanding and compliance regarding post-natal therapeutic plans.

摘要

口腔颌面裂包括唇裂(CL)和腭裂(CP)。本回顾性研究评估了产前超声诊断CL/CP孤立病例和非孤立病例的有效性以及这些儿童的产后结局。从电子病历和电话调查问卷中检索了2000年至2020年在三级口腔颌面诊所诊断和治疗的患者数据。发现孤立性唇裂7例(7.2%),孤立性腭裂51例(53%),唇腭裂合并38例(39.5%),22例(23%)伴有其他异常。在96例病例中,39例(40.6%)在产前被诊断。5/7(71.5%)的孤立性唇裂、29/38(76.3%)的合并性唇腭裂和7/51(13.8%)的腭裂在产前被诊断。32/39(82%)例进行的产前染色体分析结果均正常。合并性唇腭裂在出生后第一年的手术干预率为36/38(94.7%),唇裂为5/7(71.4%),孤立性腭裂为20/51(39%)。大多数儿童接受了言语治疗(分别为23/38(60.5%)、3/7(42.8%)和41/51(80.3%))和心理治疗(分别为6/38(15.7%)、3/7(42.8%)和15/51(29.4%))。超声产前诊断的准确率较低。我们的结果强调了对患有CL和/或CP胎儿的建议检查流程以及对父母咨询的改进,以及他们对产后治疗计划的理解和依从性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/17b5/9776564/a79546b25606/children-09-01880-g001.jpg

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