Yael Sciaky-Tamir1,3, Ronan Said Ahmad1,3, Erik

Shinwell2,3, Igor Portnov2,3, Emad Mustafa1

1. Obstetrics and gynecology department, Ziv Medical Center
2. Neonatal pediatric department, Ziv Medical Center, Safed, Israel.
3. Bar-Ilan University, The Azrieli Faculty of Medicine
 GA
Mode of Postnatal
Case GA Referral reason Prenatal diag delive Postnatal diag
delivery symptoms
ry
Case 1 24+0 Anatomy scan Normal anatomy scan 35 NVD Post-partum Choanal Atresia - Bilateral
GDM 2180gr Apnea
34+0 AFI=10 APGAR
35+6 AFI=7, PET 9/10
Case 2 32+0 LOPC, Susp Multiple Truncus Arteriosus, PLSVC, 36+2 NVD Post-partum Choanal atresia – Bilateral
Malformations Lt. Mild- 2550gr Apnea Truncus arteriosus, VSD
Ventriculomegaly, APGAR Ventriculomegaly - mild
Polyhydramnios, AFI=27 8/6
34+0 AFI=30, MVP=8
36+0 AFI=46, MVP=12.4

Case 3 36+1 Detailed scan for Polyhydramnios AFI=44, 37 TLSCS Post-partum CHARGE
Polyhydramnios MVP=15 (Breech) Apnea Choanal atresia – Bilateral, Coloboma
Short Thick CC, susp 3280gr Bilateral, Craniosynostosis (Lt cranial
vermian dysgenesis , susp APGAR suture), short thin Corpus Calosum,
Ao coarct. Susp Tethered 2/8 enlarged subarachnoid space, ASD,
cord, ↓fetal movements PDA,
Lt mild Hydronephrosis
Case 4 22+3 Anatomy scan AF=N 34+0 TLSCS Post-natal SUSP CHARGE:
PTU Tx 1180gr resuscitation SUA, SGA
27+4 Detailed scan for MVP=10 APGAR Post-partum Microcephalus – Gyration&sulcation
Triplets 28+3 polyhydramnios MVP=9.6 5/10 Apnea anomaly, megacysterna magna
Fetus C Polyhydramnios Choanal atresia – Bilateral
Microcephaly , SUA Cochlear anomaly
ASD, PDA, Hydronephrosis – Lt mild
Case 5 35+5 Detailed scan for Scan after PPROM: 36 NVD Early Club foot – Bilateral
polyhydramnios AFI=normal PPRO 2450gr repeated Choanal stenosis – unilateral (Lt)
AFI=51 Brain, stomach, M APGAR desaturation
(community clinic) heart(4CV)= normal 9/10 s during
feeding
• 1755 Roederer – disease entity first described
• 1829 Oto further characterized the anomaly in relation to the deformity of the
palatine bones
• 1851 Emmert demonstrate the use of curved trochar in tranasal repair
• 0.91/10,000 births
• Of 202 cases
• 30% Syndromic
• Of non syndromic 67% isolated, 33%
multiple malformations (heart, skeletal,
CNS, GI)
• M:F

• Complete nasal obstruction

• Immediate respiratory distress
• Potential death due to asphyxia
• Cyclic respiratory obstruction Etiology
• Obstruction is relieved during crying • 4 embryologic theories
• Cyanosis while feeding • Retinoic acid deficiency
• Late manifestations: • Hyperthyroidism-Thioamides Tx (PTU,
• feeding difficulty Methimazole, Carbimazole)
• Respiratory collapse
• FTT
• Choanal atresia with multiple anomalies
• Multiple congenital anomalies mainly in
bilateral CA/S
• Of them 34% had other airway obstruction:
tracheomalacia, laryngomalacia, subglotic stenosis
• 21% craniofacial anomalies: Treacher Collins,
Pfeiffer, Apert, Mandibulofacial dysostosis, and Crouzon
syndromes
Pagon et al J Pediatr 1981

oloboma • Incidence 1/8,500-10,000 births

• Inheritance - Autosomal dominant
eart defects • Gene – CHD7, Location 8q12.2
• Essential for the formation of multipotent migratory neural crest
tresia of Choanae • Diagnosis:
• Harris 1997 – CA in 47% of infants w/o chromosomal
etarded growth and anomalies. If CHARGE diagnosis ≥3 malformations only 7% of
development and/or CA had CHARGE
CNS anomalies • VERLOES 2005 – 3 C’s Major: Coloboma, Choanal atresia,
Semicircular canal anomalies 5 Minor: rhombencephalic abnormalities,
enital hypoplasia hypothalamo-hypophyseal dysfunction, external/middle ear
malformations, mediastinal visceral malformations, and mental
ar anomalies and/or retardation
deafness • BLAKE 2008 – 4 C’s - Major criteria: cranial nerve involvement
coloboma, choanal atresia, and characteristic ear anomalies
25% (3/12) had polyhydramnios,
2 of them had bilateral choanal
atresia
yael.st@ziv.health.gov.il
053-7205882
Yael.st@ziv.health.gov.il