1. SONO. CASE PRESENTATION 가천의대길병원 초음파실 R2 이현이

2. 초음파실 통계상황 11/17~11/2311/24~11/30 OB8185 GY178144 Target10 Amnio13 Doppler22 BPP00 Aspiration01

3. CASE I 권 0 희 (31/F) C.C:for delivery P.I : 상기 산모 모자보건센터에서 PN check 받던분 으로 fetal stomach 위치가 이상하다 하여 OB7 과로 attending 되어 F/U 하다 분만 위해 입원함 OBHx: P 2-0-0-2 ’99 NFSD M 3.61kg at 서울 OBGY ’00 NFSD M 3.81kg at 부천 OBGY

4. PHx: DM/HTN/Pul Tbc/Asthma (-/-/-/-) ’91 뇌종양으로 수술 ( 서울아산병원 )  임신전까지 po 복용함 FHx: none Lab: 10.5/32.6-7940/74-206k

5. 11.17 Sono finding I BPD 9.18cm HC 33.28cm

6. 11.17 Sono finding II CTAR 17.66/47.38  0.37

7. 11.17 Sono finding III AC 34.22cm

8. 11.17 Sono finding IV FL 7.32cm

9. 11.17 Sono finding V EFW 3352 gm

10. 11.17 Sono finding VI

11. 11.17 Sono finding VII Pulmonary a. Aorta SVC

12. 11.17Sono finding VIII LV  aorta

13. 11.17 Sono finding IX RV  Pulmonary a.

14. Imp: Single preg. sized 37+6wk R/O Situs Inversus 2004.11.23 IUP 39+3wk NFSD F 3.29kg A/S 9  10

15. Postnatal X-ray finding Heart – dextro- location Liver – levo- location

16. 2004.11.25 소아과 OPD F/U situs inversus  echo : WNL Plan ; observation

17. A.4chamer view B.Long axis view C.Aortic arch and ductus arch D.Short axis view E.LV with2 papillary m.

18. Schematic drawing through normal fetal thorax (cardiac 4-chamber)

19. Long axis view

20. Crisscross relation of outflow tracts

21. Heterotaxy syndromes(cardiosplenic syndromes, polysplenia/asplenia) Situs solitus –usual arrangement of organs and vessels Situs inversus –complete reversal of mormal organ position Situs ambiguus –randomization eg. asplenia syndrome bilateral right-sidedness (Rt.isomerism) polysplenia syndrome bilateral left-sidedness (Lt. isomerism)

22. Classification of Visceroatrial Situs and Associasted Congenital Heart Disease(CHD) Situs Solitus Thoracic and abdomial viscera in normal position Levocardia- less than 1% incidence of CHD Dextrocardia- 95% incidence of CHD Situs Inversus Thoracic and abdominal viscera completely inverted Levocardia- extremely rare with greater than 95% incidence of CHD Dextrocardia- about 5% incidence of CHD Situs Ambiguous Liver midline Asplenia- 95% incidence of CHD Polysplenia- about 75% incidence of CHD

23. Heterotaxy syndromes Incidence asplenia – 1/40,000 live births Genetic defect No single genetic defect No recognized chromosome abnormality

24. Pathologic and clinical features of polysplenia and asplenia I systemPolysplenia(bilateral Lt-sidedness) Asplenia(bilateral Rt-sidedness) Pulmonary Bilateral bilobed lungsBilateral trilobed lungs Gastrointestinal Transposed liver, spleen, and stomach(Abd.situs inversus) Multiple spleens Absent gallbladder Biliary atresia Duodenal atresia Esophageal abnormalities Malrotation of bowel Horizontal, midline liver Absent spleen Midline gallbladder Duodenal atresia Esophageal abnormalities Malrotation of bowel

25. Pathologic and clinical features of polysplenia and asplenia II system Polysplenia(bilateral Lt-sidedness) Asplenia(bilateral Rt- sidedness) Cardiovascular AVSD ASD and VSD Anomalous pul. venous return Rt ventricular outflow obstruction Transposition of the great arteries Interrupted IVC Bradycardia Heart block Anomalous pul. Venous return Truncus arteriosus AVSD Univentricular septal defect Univentricle heart Rt ventricular outflow obstruction Transposition of the great arteries IVC and aorta on the same side (Lt or Rt) Bilateral SVC Genitourinary --

26. Pathologic and clinical features of polysplenia and asplenia III system Polysplenia(bilateral Lt-sidedness) Asplenia(bilateral Rt- sidedness) Central nervous system Spina bifida Hydranencephaly Hydrocephaly Holoprosencephaly Cephalocele Spina bifida Hydranencephaly Hydrocephaly Holoprosencephaly Cephalocele Facial Anophthalmia Absent mandible Anophthalmia Absent mandible skeletal --

27. Diagnosis 1.Abd. situs inversus with Rt-sided stomach. - may be Lt or Rt-sided with either asplenia or polysplenia 2.Cardiac abnormalities - heart defect and Rt- sided stomach  cardiosplenic syndrome 3.Characteristic venous or arterial abnormalities. – interruption of the IVS with azygous continuation in polysplenia

28. DDx Partial situs inversus Complete situs inversus – mirror image with the apex oriented to the Rt. - 20% of patients with Kartagener’s syndrome (total situs inversus, bronchiectasis, nasal polyposis) - cardiac malformation risk <3% AVSD –suggest chromosome abnormality, trisomy 21 AVSD + Situs inversus – polysplenia syndrome with normal karyotype

29. Px 1.>95% of infants with asplenia die by the 1 st year of life. 2.1-year mortality rate for polysplenia - 60~80%

30. Management Fontal procedure (palliative procedure) Poorer surgical outcome – associated with AV valve regurgitation and hypoplastic Pul. Arteries. Recurrence risk also been reported with autosomal dominant, recessive, and X-linked inheritance