|
|
|
|
|
| Forehead and facial heights in Down syndrome and normal fetuses in the midtrimester of pregnancy |
I. H. Kalelioglu1, *( ), S. G. Erzincan2, R. Has1, A. Yuksel1 |
1Department of Obstetrics and Gynecology, Istanbul University Faculty of Medicine, Istanbul, Turkey
2Department of Obstetrics and Gynecology, Trabzon Kanuni Research and Teaching Hospital, Trabzon, Turkey |
|
|
|
|
Abstract Objectives: To compare forehead height (FH), facial heights (FaHs) and the ratios of biparietal diameter (BPD) and femur length (FL) to these heights in midtrimester normal and Down syndrome (DS) fetuses. Methods: 150 normal and 26 DS fetuses were scanned at 15-25 weeks of gestation. At the mid-sagittal image of the fetal profile, FH, FaH, upper facial height (UFaH) and lower facial height (LFaH) were measured in millimeters with “two line distance” tool. The results were expressed as multiples of the gestation-specific normal median (MoMs) using the regression of the equation derived from normal fetuses. The ratios of BPD/UFaH, BPD/LFaH, BPD/FaH, BPD/FH, FL/UFaH, FL/LFaH, FL/FaH, FL/FH were also assessed. Results: In normal fetuses, FH and FaHs increased linearly with gestational age (GA). UFaH increased linearly from 5.2 mm at 15 weeks to 15.7 mm at 25 weeks. LFaH increased from 9.3 mm at 15 weeks to 32 mm at 25.2 weeks. FaH increased from 16 mm at 15 weeks to 39 mm at 25 weeks. FH increased from 17.7 mm at 15 weeks to 42.8 mm at 25 weeks. Only UFaH was found to be significantly smaller in DS fetuses (with a mean of 0.91 MoM, 95% CI, 0.7-1.1, p = 0.003), than in normal fetuses (1 MoM, 95% CI, 0.6-1.3). Concomitantly, none of the ratios changed with gestation and all were found to be statistically higher in DS fetuses (p < 0.05). Conclusions: UFaH, is smaller in DS fetuses compared with normal fetuses in the midtrimester of pregnancy. The ratios of BPD and FL to all heights are higher in fetuses with DS than in normal fetuses.
|
|
Published: 15 April 2020
|
|
*Corresponding Author(s):
I. H. Kalelioglu
E-mail: dr.ikalelioglu@gmail.com
|
Figure 1. — Ultrasound images of a normal fetus (A, B, C) and a fetus with Down syndrome (D, E, F) showing the forehead and facial height measurements at 20 weeks of gestation. Figures 1A and 1D, show the two lines passing through the most prominent border of the cranial vault and the upper margin of the maxilla, respectively in a normal fetus and a fetus with Down syndrome. Figures 1B and 1E, show the two lines delineating the upper facial height (UFaH), respectively in a normal fetus and a fetus with Down syndrome. Figures 1C and 1F, show the two lines delineating the lower facial height (LFaH), respectively in a normal fetus and a fetus with Down syndrome.
Figure 2. — Relationship of (a) upper facial height (UFaH), (b) lower facial height (LFaH), (c) facial height (FaH) and (d) forehead height (FH) to gestational age in 150 normal fetuses between 15 and 25 weeks of gestation (GW: gestational age in weeks).
Table 1 — Characteristics of study groups and distribution of ultrasound parameters. (DS: Down syndrome, UFaH: upper facial height, LFaH: lower facial height, FaH: facial height, FH: forehead height, GA: gestational age in weeks. MWU: Mann-Whitney U test).
| DS fetuses (n = 26) | | Normal fetuses (n = 150) | | p Value |
|---|
| Maternal age (years) | | | | (MWU) | | Median (min-max) | 35.5 (22-43) | | 29 (18-41) | | 0.001 | | GA (weeks) | | | | | | | Median (min-max) | 20 (15-25) | | 19 (15-25) | | 0.8 | | mm | MOM | mm | MOM | | | UFaH | | | | | | | Median (min-max) Correlation with GA LFaH | 9.9 (5.9-13.5)
0.918(P < 0.001) | 0.91 (0.7-1.1) | 10.6 (5.2-15.7)
0.899 (P < 0.001) | 1(0.6-1.3) | < 0.001 | | Median (min-max) | 17.8 (10.1-25.1) | 1.05 (0.8-1.3) | 15.6 (9.3-25.2) | 1(0.7-1.3) | 0.09 | Correlation with GA
FaH | 0.870(P < 0.001) | | 0.814(P < 0.001) | | | | Median (min-max) | 28.7 (16-39) | 1.01 (0.8-1.1) | 25.9 (16-39) | 1(0.8-1.2) | 0.2 | Correlation with GA
FH | 0.937(P < 0.001) | | 0.934(P < 0.001) | | | | Median (min-max) | 28.7(15.8-39.1) | 0.98 (0.7-1.1) | 28 (17.7-42.8) | 1(0.7-1.2) | 0.2 | | Correlation with GA | 0.844(P < 0.001) | | 0.870 (P < 0.001) | | |
Table 2 — Median UFaH, LFaH, FaH and FH in normal fetuses, together with regressed values* (*UFaH = (0.755 x GA) - 3.868, LFaH = (1.2 x GA) - 7.18, FaH = (1.9 x GA) - 11.1, and FH = (1.8 x GA) - 7.1 UFaH: upper facial height, LFaH: lower facial height, FaH: facial height, FH: forehead height, GA: gestational age in weeks).
| GA | n | UFaH | LFaH | FaH | FH |
|---|
| Median | Regressed | Median | Regressed | Median | Regressed | Median | Regressed |
|---|
| 15 | 9 | 7.11 | 7.5 | 11.4 | 10.9 | 19.6 | 17.4 | 20.1 | 19.9 | | 16 | 12 | 8.2 | 8.2 | 12.1 | 12.1 | 20.2 | 19.3 | 23.2 | 21.7 | | 17 | 27 | 8.9 | 8.9 | 13.9 | 13.3 | 22.4 | 21.2 | 24.6 | 23.5 | | 18 | 21 | 9.7 | 9.7 | 14.3 | 14.5 | 23.7 | 23.1 | 25.7 | 25.3 | | 19 | 17 | 10.9 | 10.5 | 15.8 | 15.7 | 27 | 25 | 28.8 | 27.1 | | 20 | 8 | 11.3 | 11.2 | 17.1 | 16.8 | 28.9 | 26.9 | 29.5 | 28.9 | | 21 | 12 | 11.6 | 11.9 | 18.1 | 18 | 30 | 28.8 | 32.5 | 30.7 | | 22 | 14 | 13.3 | 12.7 | 20.5 | 19.2 | 32.4 | 30.7 | 33.7 | 32.5 | | 23 | 16 | 14.1 | 13.5 | 20.8 | 20.4 | 34.7 | 32.6 | 36.5 | 34.3 | | 24 | 11 | 13.2 | 14.3 | 21.8 | 21.6 | 35.7 | 34.5 | 36.3 | 36.1 | | 25 | 3 | 14.3 | 15 | 22.7 | 22.8 | 36.9 | 36.4 | 35.4 | 37.9 |
Table 3 — Individual UFaH, LFaH, FaH and FH all in MoM values in 26 Down syndrome fetuses (GA: gestational age in weeks, UFaH: upper facial height, LFaH: lower facial height, FaH: facial height, FH: forehead height).
| GA | UFaH | LFaH | FaH | FH |
|---|
| 15.00 | 0.96 | 1.04 | 0.98 | 1.03 | | 15.00 | 0.88 | 1.07 | 0.96 | 1.01 | | 15.00 | 0.83 | 0.87 | 0.83 | 0.78 | | 15.00 | 0.80 | 0.88 | 0.82 | 0.89 | | 16.00 | 1.09 | 0.94 | 1.00 | 1.04 | | 16.00 | 1.05 | 1.15 | 1.11 | 0.99 | | 16.00 | 0.73 | 1.33 | 1.09 | 0.85 | | 17.00 | 0.84 | 0.90 | 0.89 | 0.99 | | 18.00 | 0.93 | 1.06 | 1.02 | 0.89 | | 19.00 | 0.93 | 1.12 | 1.03 | 1.14 | | 19.00 | 0.84 | 0.93 | 0.89 | 1.07 | | 19.00 | 0.84 | 0.76 | 0.79 | 1.01 | | 20.00 | 1.06 | 1.05 | 1.04 | 1.02 | | 20.00 | 0.95 | 1.34 | 1.17 | 1.06 | | 20.00 | 0.70 | 1.28 | 1.03 | 0.93 | | 21.00 | 0.99 | 1.04 | 1.00 | 0.79 | | 21.00 | 0.95 | 1.16 | 1.06 | 1.07 | | 21.00 | 0.83 | 1.04 | 0.94 | 0.71 | | 22.00 | 0.95 | 0.81 | 0.91 | 0.96 | | 22.00 | 0.95 | 1.13 | 1.10 | 0.86 | | 23.00 | 0.89 | 0.86 | 0.88 | 0.78 | | 23.00 | 0.87 | 0.96 | 0.94 | 1.07 | | 23.00 | 0.87 | 1.08 | 1.01 | 1.03 | | 24.00 | 1.01 | 1.08 | 1.04 | 0.94 | | 24.00 | 0.87 | 1.15 | 1.02 | 0.95 | | 25.00 | 0.97 | 1.07 | 1.03 | 0.98 |
Figure 3. — Relationship of (a) biparietal diameter to upper facial height ratio (BPD/UFaH), (b) biparietal diameter to lower facial height ratio (BPD/LFaH), (c) biparietal diameter to facial height ratio (BPD/FaH) and (d) biparietal diameter to forehead height ratio (BPD/FH) to gestational age in 150 normal fetuses between 15 and 25 weeks of gestation (GW: gestational age in weeks).
Figure 4. — Relationship of (a) femur length to upper facial height ratio (FL/UFaH), (b) femur length to lower facial height ratio (FL/LFaH), femur length to facial height ratio (FL/FaH) and (d) femur length to forehead height ratio (FL/FH) to gestational age in 150 normal fetuses between 15 and 25 weeks of gestation (GW: gestational age in weeks).
Table 4 — Comparison of ratios between normal fetuses and fetuses with Down syndrome (BPD: Biparietal diameter, FL: femur length, UFaH: upper facial height, LFaH: lower facial height, FaH: facial height, FH: forehead height, MWU: Mann-Whitney U test).
| Ratios | Karyotype | n | Mean | Std. Deviation | P (MWU) |
|---|
| BPD/UFaH | Down syndrome | 26 | 6.3576 | 1.5395 | | | Normal fetuses | 150 | 4.0762 | 0.55805 | < 0.001 | | BPD/ LFaH | Down syndrome | 26 | 3.6757 | 1.00191 | | | Normal fetuses | 150 | 2.7068 | 0.4072 | < 0.001 | | BPD/FaH | Down syndrome | 26 | 2.313 | 0.58131 | | | Normal fetuses | 150 | 1.6187 | 0.2012 | < 0.001 | | BPD/FH | Down syndrome | 26 | 2.2457 | 0.513 | | | Normal fetuses | 150 | 1.5319 | 0.20361 | < 0.001 | | FL/UFaH | Down syndrome | 26 | 4.7132 | 1.22548 | | | Normal fetuses | 150 | 2.6065 | 0.42603 | < 0.001 | | FL/LFaH | Down syndrome | 26 | 2.7034 | 0.69898 | | | Normal fetuses | 150 | 1.7278 | 0.29053 | < 0.001 | | FL/FaH | Down syndrome | 26 | 1.7046 | 0.41254 | | | Normal fetuses | 150 | 1.0341 | 0.15502 | < 0.001 | | FL/FH | Down syndrome | 26 | 1.6572 | 0.36406 | | | Normal fetuses | 150 | 0.981 | 0.16933 | < 0.001 |
| [1] |
Down J.L.H.: “Observations on an ethnic classification of idiots”. Lond. Hosp. Reports., 1866, 3, 259.
|
| [2] |
Nicolaides K.H., Azar G., Bryne D., Mansur C., Marks K.:“Fetal nuchal translucency: ultrasound screening for chromosomal defects in first trimester of pregnancy”. BMJ., 1992, 304, 867.
doi: 10.1136/bmj.304.6831.867
pmid: 1392745
|
| [3] |
Benacerraf B.R., Barss V.A., Laboda L.A.:“A sonographic sign for the detection in the second trimester of the fetus with Down’s syndrome”. Am. J. Obstet. Gynecol., 1985, 151, 1078.
|
| [4] |
Persico N., Borenstein M., Molina F., Azumendi G., Nicolaides K.H..: “Prenasal thickness in trisomy-21 fetuses at 16-24 weeks of gestation”. Ultrasound Obstet. Gynecol., 2008, 32, 751.
doi: 10.1002/uog.5404
pmid: 18666090
|
| [5] |
Cicero S., Curcio P., Papageorghiou A., Sonek J., Nicolaides K.H.: “Absence of nasal bone in fetuses with trisomy 21 at 11-14 weeks of gestation: an observational study”. Lancet., 2001, 358, 1665.
doi: 10.1016/S0140-6736(01)06709-5
pmid: 11728540
|
| [6] |
Otaño L., Aiello H., Igarzábal L., Matayoshi T., Gadow E.C.: “Association between first trimester absence of fetal nasal bone on ultrasound and Down syndrome”. Prenat. Diagn., 2002, 22, 930.
doi: 10.1002/pd.431
pmid: 12378580
|
| [7] |
Molina F., Persico N., Borenstein M., Sonek J., Nicolaides K.H.: “Frontomaxillary facial angle in trisomy 21 fetuses at 16-24 weeks of gestation”. Ultrasound Obstet. Gynecol., 2008, 31, 384.
doi: 10.1002/uog.5288
pmid: 18318458
|
| [8] |
de Jong-Pleij E.A., Ribbert L.S., Manten G.T., Tromp E., Bilardo C.M.:“Maxilla-nasion-mandible angle: a new method to assess profile anomalies in pregnancy”. Ultrasound Obstet. Gynecol., 2011, 37, 562.
doi: 10.1002/uog.7768
pmid: 20922777
|
| [9] |
Weichert J., Gembicki M., Ribbat-Idel J., Hartge D.R.: “Assessment of midfacial hypoplasia in Down syndrome fetuses - validity of a two-line approach and introduction of a novel angle (Maxilla- Mandible-Nasion Angle)”. Ultrasound Int. Open., 2016, 2, E58.
doi: 10.1055/s-0042-106397
pmid: 27689172
|
| [10] |
Vos F.I., De Jong-Pleij E.A., Bakker M., Tromp E., Kagan K.O., Bilardo C.:“Fetal facial profile markers of Down syndrome in the second and third trimesters of pregnancy”. Ultrasound Obstet. Gynecol., 2015, 46, 168.
doi: 10.1002/uog.14720
pmid: 25366900
|
| [11] |
Allareddy V., Ching N., Macklin E.A., Voelz L., Weintraub G., : “Craniofacial features as assessed by lateral cephalometric measurements in children with Down syndrome”. Prog. Orthod. 2016, 17, 35.
doi: 10.1186/s40510-016-0148-7
pmid: 27722998
|
| [12] |
van Marrewijk D.J., van Stiphout M.A., Reuland-Bosma W., Bronkhorst E.M., Ongkosuwito E.M.:“The relationship between craniofacial development and hypodontia in patients with Down syndrome”. Eur. J. Orthod., 2016, 38, 178.
|
| [13] |
Suri S., Tompson B.D., Cornfoot L., : “Cranial base, maxillary and mandibular morphology in Down syndrome”. Angle Orthod., 2010, 80, 861.
doi: 10.2319/111709-650.1
pmid: 20578856
|
| [14] |
Farkas L.G., Munro I.R., Kolar J.C.: “Abnormal measurements and disproportions in the face of Down’s syndrome patients: preliminary report of an anthropometric study”. Plast. Reconstr. Surg. 1985, 75, 159.
doi: 10.1097/00006534-198502000-00002
pmid: 3155866
|
| [15] |
Farkas L.G., Katic M.J., Forrest C.R., Litsas L.:“Surface anatomy of the face in Down’s syndrome: linear and angular measurements in the craniofacial regions”. J. Craniofac. Surg., 2001, 12, 373.
doi: 10.1097/00001665-200107000-00011
|
| [16] |
Allanson J.E., O’Hara P., Farkas L.G., Nair R.C.:“Anthropometric craniofacial pattern profiles in Down syndrome”. Am. J. Med. Genet., 1993, 47, 748-752.
|
| [17] |
den Boogert A., de Jong-Pleij E., Ribbert L., Pistorius L., Tromp E., Bilardo C.:“Facial shape; height and width in the second and third trimester of pregnancy”.J. Matern. Fetal Neonatal Med., 2019, 32, 555.
doi: 10.1080/14767058.2017.1384807
|
| [18] |
Roelfsema N.M., Hop W.C., Van Adrichem L.N., Wladimiroff J.W.:“Craniofacial variability index in utero: a three-dimensional ultrasound study”. Ultrasound Obstet. Gynecol., 2007, 29, 258.
doi: 10.1002/uog.3904
pmid: 17318941
|
| [19] |
Farkas L.G.: Anthropometry of the head and face in medicine. New York (NY): Elsevier North Holland; 1981.
|
| No Suggested Reading articles found! |
|
|
Viewed |
|
|
|
Full text
|
|
|
|
|
Abstract
|
|
|
|
|
Cited |
|
|
|
|
| |
Shared |
|
|
|
|
| |
Discussed |
|
|
|
|
2020, Vol. 47 
