04 Kasım 2017
Fetal Yüz
Anomalilerinin Prenatal Tanısı
Dr Ali ERGÜN Liv Hospital
perinatoloji.com
Fetal Yüzün Muayenesi
❖ Yüzdeki anatomik yapılar
❖ Yüzün temel muayenesi
❖ Görüntüleme planları
❖ MR gerektiren durumlar
❖ I. ve II. trimestir muayene
❖ Görüntüleme protokolleri
Yüz Muayenesi
❖ Yüz çevresinde yeterli sıvı var mı
❖ Fasial cleft var mı
❖ Nukal alan normal mi
❖ NB izleniyor mu, ekojenitesi normal mi
❖ Orbitaların yerleşimi uygun mu
❖ Kafatası şekli normal mi
❖ Dil, kulaklar ve anterior boyun normal mi
CRL: 54 mm
Kaliper yerleştirme
Risk (%)
Yaş (yıl)
30 35 40 45
100
10
1
0.1
20 25
0.01
1: 600
1:
100
1: 3,700
1.5 2.9
Hangisi doğru ölçüm?
Anöploidi Taraması
Fronto-Maksillar Fasial Açı
• Longdon Down orijinal olarak Trizomi 21 li
fetusların fenotipini ‘Flat face’ olarak tanımlamıştır.
Maxillary length at 11-14 weeks of gestation in fetuses with trisomy 21 (n= 60)
.Trizomi 21 li fetuslarda maksillar uzunluk anlamlı oranda daha kısadır.
Cicero S et al. Ultrasound Obstet Gynecol 2004;24: 19-22.
Three-dimensional evaluation of mid-facial hypoplasia in fetuses with trisomy 21 at 11 + 0 to 13 + 6 weeks of gestation. (n=80)
Trizomi 21 li fetusların % 50 sinden fazlasında Midfasial hipoplazi bulunmaktadır.
Dagklis T et al. Ultrasound Obstet Gynecol 2006;28: 261-65.
1
Yüz Gelişimi ve Görüntüleme
❖ Midsagital profil
- burun kemiği, mikrognati
❖ Koronal burun-ağız görüntüsü
- normal, yuvarlak burun delikleri, intakt üst dudak
❖ Aksial görüntü
- orbitalar, intakt damak
❖ Diğer planlar, 3D US
Fetal yüz
Yüz Anomalileri
❖ CL/CP
❖ Mikrognati
❖ Hipoteleorizm / hiperteleorizm
❖ Kistik higroma
❖ Kulak anomalileri
❖ Guatr
❖ Yüzde kitle
Görüntüleme Hataları
❖ NB;
- Cilt burun kemiği gibi algılanabilir, 90 derece açı, unilateral hipoplazi, iki kemik arası boşluk
❖ Burun/dudak;
- dudak katlantıları ve dolgunluk CL gibi görünebilir
- izole CP sıklıkla atlanabilir, özellikle yumuşak damak - CP derinliği sıklıkla belirlenemez
Dismorfik bebek, Genetik sendromlar…
İzole Diğer
Anomaliler ile Birlikte
Sendromun
Parçası
Yüz Anomalileri/Anoploidi İlişkisi
❖ Artmış NT, kistik higroma, nukal ödem
❖ CL %80 CP ile birlikte, Unilateral CL+CP; %20 anoploidi
❖ Median CL+CP %50 anoploidi (en çok T13/18)
❖ NB ekojenite yokluğu ve hipoekoik
❖ Hipo/hiperteleorizm, mikrognati, kulaklar, makroglosi
❖ Ebeveynlerin tipik yüz görünümleri!
Klinik Önemi
❖ Ailenin kabullenmesi zor
❖ İzole olanlarda daha iyi prognoz
❖ Çoğunlukla genetik test endikasyonu vardır
❖ CL/CP, prenatal plastik cerrahi konsültasyonu
❖ “Face predicts the brain”
CL/CP
❖ % 0.15 sıklıkta görülür, 1. trimestir kayıplarında %12
❖ 4 tip fasial defekt var
❖ Erkeklerde sık, izole CP kızlarda fazla
❖ Beslenme, işitme ve konuşma sorunları
❖ 20. haftadan sonra daha iyi tanı
❖ MR, renkli doppler, 3D US, polihidramnios
❖ Graphic shows an axial view of the palate at 7-8 weeks. The primary palate arises dorsally from the intermaxillary process, and the secondary palate originates from the maxillary
prominence. Complete fusion occurs by the 10th week.
❖ (Left) Graphic shows a US classification system of cleft lip (CL) and cleft palate (CP). Type 1 is CL without CP, type 2 is unilateral CL + CP, type 3 is bilateral CL + CP, and type 4 is midline CL/CP. Type 2 is the most common. Most practitioners now feel that it is best to be
descriptive of the anatomy with CL/CP diagnoses instead of using a classification system.
❖ (Right) Typical snout view appearance of unilateral complete CL shows the lip defect ſt extending to the flat naris on the affected side.
Fasial Defektlerin Tanısı
Retronasal Triangle
❖ (Left) 3D surface-rendered image of the fetal face shows a midline CL ſt, flat deficient nose , and close set eyes (hypotelorism) . The fetus also had alobar holoprosencephaly. Karyotype results, however, were normal.
❖ (Right) Photograph of the child after delivery confirms the prenatal diagnosis. The family opted for comfort care, and the child died at 2 weeks of life. Midline CL/CP is highly associated with midline brain anomalies, usually on the
holoprosencephaly spectrum. Both defects are associated with trisomy 13.
❖ (Top) Coronal ultrasound through the nose and lips shows the nostrils and intact upper lip. This view is considered standard for anatomy scans.
❖ (Middle) 3D ultrasound with soft tissue reconstruction shows the normal rounded nares of the nose and the intact philtrum of the upper lip.
❖ (Bottom) T2WI MR of a 30-week fetus shows an intact secondary palate. A sliver of high-signal fluid in the mouth, superior to the tongue, provides excellent contrast, allowing for visualization of the palate. The fluid-filled hypopharynx is also seen extending down to the upper trachea.
❖ (Left) MR in a fetus with hypognathia and suspicion for associated CP shows tongue deviation through a posterior palate defect ſt and an intact anterior alveolar ridge . Fluid was seen extending into the airway inferior to the tongue, suggesting a lower likelihood that the newborn would have severe airway compromise.
❖ (Right) Sagittal CT reconstruction correlates with the prenatal MR. The tongue deviates superiorly through the palate defect. The hard palate is seen to the point of the palate defect.
❖ (Left) The profile view in this fetus with a small chin st shows a fluid-filled palate defect ſt in the dorsal palate, posterior to the intact alveolar ridge . Isolated CP is highly associated with hypognathia.
❖ (Right) Postnatal photograph from the same case shows the dorsal soft palate defect ſt and small chin. A nasal airway is placed because of the resultant airway obstruction.
❖ (Left) A normal profile, tongue st, & soft tissue palate ſt is seen in this 19-week fetus with a family history of micrognathia & cleft palate. When these structures are surrounded by fluid, 3D & multiplanar views can be diagnostic. Otherwise, fetal MR is superior to US for soft tissue palate defects.
❖ (Right) Seeing fetal facial features and expressions with 3D and 4D US increases parental-fetal bonding. Positive changes observed include reduced anxiety and increased awareness of the importance for self-care during
pregnancy.
❖ (Left) Clinical photograph of a child with unilateral complete CL and CP demonstrates the flat naris, CL extending to the naris, and CP involving the alveolar ridge (and beyond). Dorsal extension of the CP is difficult to demonstrate prenatally.
❖ (Right) Clinical photograph of the same child after lip and palate repair demonstrates minimal deformity. Further lip or nasal revisions in adolescence may be performed. Modern surgical techniques yield excellent results.
Nazal Kemik
❖ Absent, 11-14 hafta(CRL, 42 mm’den sonra görülür)
❖ Hipoplazik, 15-20 hafta, 2.5 mm’den büyük
❖ Normallerde, %2.8 absent NB, %1.2 hipoplastik
❖ Absent NB; Trizomi 21, 18, 13; %67, 57, 32
❖ Hipoplastik NB; Trizomi 21, 18; % 62, 7
❖ Asyalı ve Afrokarayiplerde sensitivite düşük
❖ Ayırıcı tanı; Yanlış ölçüm, TD, kumadin embriopati
Burun kemiği
Burun kemiği yokluğu veya hipoplazisi, DS için ikinci trimestirde yüksek sensitivite ve spesifiteye sahip bir belirteçtir.
Mikrognati
❖ Mikrognati, yardımcı bulgular; retrognati, glossopitosis
❖ 3D US, MR, İkinci trimestir tanı için yeterli değil
❖ Jaw indeks(AP mandibula/BPD x 100), 23’ten küçük,
%100 sens. 21’den küçük, %100 PPD
❖ Eşlik eden anomaliler, CL, CP, genetik sendromlar
❖ Yanlış plan(off axis), oligohidramnios, agnathia, dil
❖ %70 polihidramnios, yarıdan fazlasında havayolu
sorunları, üçte birinde beslenme sorunları, üçte ikisinde anormal kromozom
Mikrognati
❖ Nadiren izole bulgu olup genetik konsültasyonu gerekli, anoploidi/genetik sendromlar, iskelet displazileri, primer mandibula anomalisi olarak 3 kategoride görülür
❖ %50 intrauterin veya erken neonatal ölüm
❖ Rekürrens; anoploidi, %1, genetik sendromlarda ise otozomal dominant veya resesif
❖ EXIT prosedür?
❖ Postnatal, plastik cerrahi, ortodonti, KBB, konuşma ted.
Makroglossi
❖ Dilin sürekli dışarıda olması, sagital koronal plan
❖ En çok T21 olmak üzere %77 oranında anoploidi, ayrıca Beckwith-Wiedemann, Hurler sendromu
❖ Eşlik eden anomaliler aranmalı, nadiren izole bulgu
❖ Havayolu, beslenme, konuşma sorunları, sürekli salya
❖ Ayırıcı tanı; lenfanjiom, dil kistleri, epignatus
❖ T21’de relatif(oral kavite küçük), fasial anomali %14
Epignatus
❖ Nazofaringeal teratom, oral teratom veya fasial teratom olarak da adlandırılır
❖ Sıklıkla sert veya yumuşak damak kökenli, hızlı
büyüme, bazen fetal baştan büyük olabilir, beyine doğru büyüyebilir, sıklıkla solid ve vasküler, ağız açık, baş
ekstansiyonda, polihidramnios
❖ EXIT prosedür? TOP?
❖ Ayırıcı tanı, servikal teratom, amniotik bant, sefalosel, bilateral CL/CP, makroglossi
❖ (Left) Sagittal US of the face of a 24-week fetus shows a large, predominately solid, complex mass
fungating from the fetal mouth.
❖ (Right) Two weeks later, the mass has nearly doubled in size, obscuring normal anatomic landmarks. Teratomas can grow at an extremely rapid rate and require close followup. The oropharynx was obstructed and polyhydramnios developed.
❖ (Left) Sagittal large field of view MR of the same fetus gives a better perspective of the size of the mass , which is ~ 2/3 that of the fetal body.
❖ (Right) The patient went into preterm labor, and an EXIT was done at 27 weeks. This intraoperative photo shows the fungating mass (compare to the size of the head ). It was resected during the EXIT procedure, and an airway was established, but support was withdrawn several weeks later after bilateral grade 4 intracranial hemorrhages.
Kulak Anomalileri
❖ Düşük yerleşimli, multipl kompleks kulak anomalileri, izole veya sıklıkla eşlik eden anomaliler, bazen
pozisyonel
❖ Uzunluğu, midtrimestirde, BPD’nin 1/3’ü
❖ En iyi 3D US ile, çoğunlukla atlanır, rutin muayenenin bir parçası değildir
❖ Anoploidi veya genetik sendromlarla birlikte olabilir
❖ Tipine göre, şekil verme(özellikle ilk 3 ay) veya cerrahi
❖ (Left) A different angle in the same case shows hemifacial microsomia. The left part of the mandible st is very small, while the right is more normal in appearance. Both eyes were normal and only the left ear was deficient ſt.
❖ (Right) Clinical photograph of the same child shows the hemifacial microsomia, affecting the left jaw and ear. Note the redundant skin over the deficient mandible st. The term Goldenhar syndrome is felt to be imprecise. The findings are best referred to as oculo-auricular-vertebral spectrum disorder.
❖ (Left) This fetus was noted to have an atypical appearance of the ear on 2D ultrasound. 3D ultrasound shows the top of the ear bent away from the head and curled downward ſt.
❖ (Right) Clinical photograph of the same newborn confirms the diagnosis ſt. The baby had multiple other anomalies as well. Lop ear results from abnormal upper ear cartilage and can be an isolated finding with no significant clinical sequelae.
Midface Anomalileri
❖ 2 Major kategori; 1. Midface hipoplazi; deprese nazal köprü, maksiller hipoplazi, 2. Holoprozensefali
spektrumu
❖ Maksilla, burun ve/veya orbitalar, genellikle subtle
❖ Flat nazal köprü, kısa burun, maksilla geride, CL/CP
❖ Anoploidi, iskelet displazilerinin(TD, akondroplazi, kraniosinostoz sendromları, Apert, Carpenter) bir parçası, fetal alkol sendromu, tegretol, kumadin
❖ (Left) An axial US through the orbits is often routinely obtained during the anatomy scan. The
binocular diameter (long line) and the interocular diameter (short line) can be measured if there is suspicion for hypotelorism or hypertelorism. By "eyeballing« it, a 3rd eye should fit between the 2 normal eyes.
❖ (Right) Axial view through the eye shows the lens ſt. The central hyaloid canal st, carrying the
central artery of the retina, is a normal finding in the 2nd trimester and usually regresses during the 3rd trimester.
❖ (Left) Two small orbits ſt, in close proximity, are seen at the time of nuchal translucency anatomy scan.
❖ (Right) Axial ultrasound through the fetal calvarium, in the same case, shows a fused monoventricle ſt and absent falx. Findings are diagnostic of holoprosencephaly, with hypotelorism. Chorionic villus sampling results showed trisomy 13.
❖ (Left) Frontal face view shows a proboscis st superior to a single orbit ſt containing dysmorphic globe tissue. Cyclopia is the most severe form of hypotelorism and almost always associated with alobar holoprosencephaly.
❖ (Right) Clinical photograph of a fetus with trisomy 13, cyclopia, and proboscis shows typical
features. In this case, a single globe, with no covering eyelid, is seen. The proboscis is most often located above the orbit.
❖ (Left) The IOD measures 17 mm, and the orbits are normal in size, measuring 9 mm. In a normal fetus, the IOD measures ~ the same as the orbital diameter. These orbits are laterally displaced from the
midline.
❖ (Right) Coronal MR, in the same fetus, confirms the diagnosis of
hypertelorism. The increased IOD ſt can be seen on coronal or axial
views. Other brain and facial anomalies were also present in this case.
❖ (Left) 3D surface-rendered image of the face in this fetus shows hypertelorism and a wide, dysmorphic nose with a vertical cleft laterally displacing the nostrils .
❖ (Right) Clinical photograph of the same child, after delivery, shows typical facial features of frontonasal dysplasia. Other findings associated with frontonasal dysplasia include cleft palate, anterior encephalocele, and midline brain anomalies.
❖ (Left) This drawing shows left dacryocystocele due to obstruction of the proximal valve of
Rusenmüller st and the distal valve of Hasner . The normal lacrimal drainage system is seen on the right. Obstruction may be partial with variable amounts of nasolacrimal sac distention.
❖ (Right) Transverse US of the orbits shows bilateral dacryocystoceles. Bilateral well-circumscribed cysts ſt are seen medial to the globes . These cysts decreased in size as the pregnancy
progressed and were asymptomatic at birth.
❖ (Left) Unilateral dacryocystocele was incidentally seen on this fetal MR. A small orbital cyst ſt is seen medial to the left globe.
❖ (Right) 3D US surfacerendered view shows a focal swelling between the upper nose and left eye in this 28-week fetus with bilateral dacryocystoceles. Clinical photograph of a child with bilateral dacryocystoceles shows the focal facial swelling ſt. Dacryocystoceles typically have a bluish tinge (seen best here with the left cyst).
❖ (Left) Facial asymmetry with absent left globe st and normal right globe ſt was noted at the time of nuchal translucency screening. A cystic hygroma was also present, and karyotype was shown to be trisomy 21 and trisomy 9.
❖ (Right) A small left orbit without recognizable globe ſt is seen in this 3rdtrimester fetus with severe brain anomalies. The other eye was normal. Families are very sensitive to the cosmetic affect of an absent eye, and prenatal diagnosis helps prepare them for delivery.
❖ (Left) This CT shows the left globe is displaced and smaller than the right globe secondary to the presence of a retrobulbar cystic mass, which is a coloboma ſt. Microphthalmia is associated with coloboma.
❖ (Right) T2 MR through the level of the orbits shows a focal bulge in globe contour at optic nerve insertion. When seen in fetal life, colobomas are often associated with a syndrome including
Aicardi, CHARGE, and PHACES.
