Prenatal Diagnosis of Facial Malformations

Abstract

In a prospective study, 5407 pregnant women were screened by ultrasound to detect malformations of the fetal face. Of a total of 11 facial anomalies, eight were detected by prenatal ultrasound (72 per cent). Three pregnancies were terminated because of associated developmental abnormalities or aneuploidy. In all of them, the facial malformations were correctly diagnosed. When associated with other developmental abnormalities, facial malformations were picked up at a rate of 100 per cent. Isolated facial malformations, by contrast, were detected in no more than 50 per cent of cases. Eight cases with suspected facial dysmorphism ended with the delivery of normal babies (specificity 99·8 per cent). None of them prompted karyotyping or any other invasive testing. Only two correctly detected facial malformations (bilateral cleft lips/palate) had a minor influence on obstetrical management. There would not have been disadvantages for the newborns in any of the cases if the malformations had been missed. © 1997 by John Wiley & Sons, Ltd.

Diagnostic accuracy of transabdominal ultrasound in detecting prenatal cleft lip and palate: a systematic review

“…Of 21 low‐risk population studies (Table 1), all were cohort studies, seven8–14 being retrospective and 1415–28 being prospective. The retrospective cohort studies reported a large variety in the diagnostic accuracy of 2D ultrasound, with detection rates ranging from 0%11 to 70%13 for prenatal detection of all types of cleft, 33%10 to 88%9 for prenatal detection of CL ± P and 0%8, 10, 12, 13 to 22%9 for detection of CP.…”

“…In prospective cohort studies, detection ranged from 9%17 to 73%23 for prenatal detection of all types of cleft, 9%21 to 100%26 for prenatal detection of CL ± P and 0%17, 22, 24, 28 to 7%16 for detection of CP. In several studies, all prenatal diagnosis of CL ± P was confirmed following delivery or postmortem, indicating no false‐positive diagnoses9, 10, 13, 15, 18, 19, 23, 26, 27 or high specificity when there was complete follow‐up of all negative ultrasound diagnosis21, 22, 24.…”

Screening for group B Streptococcus in pregnant women: a systematic review and meta-analysis

“…, Hafner et al (13) ; Jeffrey et al (14) ; Main et al (15) ; Reisner et al (16) ; Vergani et al (17) ; Puopolo et al (18) ; Renner et al (19) , as described in The study by Jeffrey et al (14) of a prospective nature showed an incidence of sepsis of 0.2/1000 births for those patients who followed the universal screening protocol and of 1.4/1000 births for the risk factors based screening group. Regarding the retrospective cohort studies included in Figure 2, the incidence of each study were: Gibbs et al The methodology of this Systematic Review and Meta-analysis rigorously followed the recommendations of the Cochrane and the STROBE, the entire process was performed by two independent reviewers, the search strategy was broad, there was no language restriction, and the studies included were evaluated regarding their methodological content.…”

Prenatal Diagnosis of Craniomaxillofacial Malformations: A Characterization of Phenotypes in Trisomies 13, 18, and 21 by Ultrasound and Pathology

“…In summary, some isolated prenatal sonographic findings, such as facial clefts and profile abnormalities, are not necessarily indicative of aneuploidy; whereas, multiple facial abnormalities increase the likelihood of a trisomic condition (Nicolaides et al, 1992;Nicolaides et al, 1993b;Nyberg et al, 1993;Lehman et al, 1995;Hill, 1996;Hafner et al, 1997;Shields et al, 1998;Bergé et al, 2001). A detailed facial scan therefore improves the detection of a trisomy.…”